Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute Lung Injury | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19880587 |


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Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Acute Lung Injury | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:19880587 |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
3. | RGD automated import pipeline for gene-chemical interactions |
4. | Vestergaard EM, etal., Clin Cancer Res. 2006 Feb 1;12(3 Pt 1):807-12. |
5. | Xia HH, etal., J Clin Pathol. 2004 Aug;57(8):861-6. |
PubMed | 1505966 2303034 7566098 7961636 8405856 8836141 9043862 9050913 9070946 9272936 9781055 9855711 10189055 10716671 10830953 10950923 12054609 12477932 12613926 12717829 13679442 14759512 15101998 15115253 15177880 15177883 15256384 15489334 15578191 15984970 16142316 16166422 16341674 16359755 16718800 16786324 16830362 17118693 17207965 17332476 17982272 19064997 19172695 19204726 19344006 19541923 20063012 20801119 21228366 21461878 21472131 21873635 21982860 22159958 22286382 22329990 22997242 23000412 23376485 23628371 23933418 25124036 25210040 25876034 25899003 26201258 26240479 27523981 27668303 28355260 28687783 29850501 30324235 30431719 |
TFF2 (Homo sapiens - human) |
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Tff2 (Mus musculus - house mouse) |
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Tff2 (Rattus norvegicus - Norway rat) |
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Tff2 (Chinchilla lanigera - long-tailed chinchilla) |
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TFF2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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TFF2 (Canis lupus familiaris - dog) |
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TFF2 (Sus scrofa - pig) |
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RH66536 |
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STS-U47292 |
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RH80234 |
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The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
RefSeq Transcripts | NM_005423 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AA307808 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AB038162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AH003622 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP001623 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AP001746 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC032820 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM817851 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BM853946 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X51698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X97790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X97791 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X97792 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X97793 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_005423 ⟹ NP_005414 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
CACGGTGGAAGGGCTGGGGCCACGGGGCAGAGAAGAAAGGTTATCTCTGCTTGTTGGACAAACAhide sequence |
Protein RefSeqs | NP_005414 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAB05397 | (Get FASTA) | NCBI Sequence Viewer |
AAH32820 | (Get FASTA) | NCBI Sequence Viewer | |
BAB13730 | (Get FASTA) | NCBI Sequence Viewer | |
CAA35995 | (Get FASTA) | NCBI Sequence Viewer | |
EAX09570 | (Get FASTA) | NCBI Sequence Viewer | |
Q03403 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_005414 ⟸ NM_005423 |
- Peptide Label: | precursor |
- UniProtKB: | Q03403 (UniProtKB/Swiss-Prot) |
- Sequence: |
MGRRDAQLLAALLVLGLCALAGSEKPSPCQCSRLSPHNRTNCGFPGITSDQCFDNGCCFDSSVThide sequence |
RGD ID: | 13602926 | |||||||||
Promoter ID: | EPDNEW_H27647 | |||||||||
Type: | multiple initiation site | |||||||||
Name: | TFF2_1 | |||||||||
Description: | trefoil factor 2 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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RGD ID: | 13602928 | |||||||||
Promoter ID: | EPDNEW_H27648 | |||||||||
Type: | initiation region | |||||||||
Name: | TFF2_2 | |||||||||
Description: | trefoil factor 2 | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | |||||||||
Experiment Methods: | Single-end sequencing. | |||||||||
Position: |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1 | copy number loss | Encephalopathy [RCV000050746]|See cases [RCV000050746] | Chr21:42232926..46670405 [GRCh38] Chr21:43653036..48090317 [GRCh37] Chr21:42526105..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|Autism [RCV000050446]|Nonsyndromic microcephaly [RCV000050447]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050445]|See cases [RCV000050445] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1 | copy number loss | Global developmental delay [RCV000051022]|See cases [RCV000051022] | Chr21:41285201..46670405 [GRCh38] Chr21:42657128..48090317 [GRCh37] Chr21:41578998..46914745 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:37135738-42434515)x1 | copy number loss | Pectus excavatum [RCV000051047]|See cases [RCV000051047] | Chr21:37135738..42434515 [GRCh38] Chr21:38508038..43854625 [GRCh37] Chr21:37429908..42727694 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh37/hg19 21q22.1-22.3(chr21:35527952-44298520)x1 | copy number loss | Intellectual functioning disability [RCV000052807]|See cases [RCV000052807] | Chr21:35527952..44298520 [GRCh37] Chr21:34449822..43171589 [NCBI36] Chr21:21q22.1-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:35027972-46670405)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052836]|See cases [RCV000052836] | Chr21:35027972..46670405 [GRCh38] Chr21:36400269..48090317 [GRCh37] Chr21:35322139..46914745 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:38273492-46670405)x1 | copy number loss | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052838]|See cases [RCV000052838] | Chr21:38273492..46670405 [GRCh38] Chr21:39645414..48090317 [GRCh37] Chr21:38567284..46914745 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh38/hg38 21q22.2-22.3(chr21:40127825-46670546)x1 | copy number loss | Global developmental delay [RCV000052839]|See cases [RCV000052839] | Chr21:40127825..46670546 [GRCh38] Chr21:41499752..48090458 [GRCh37] Chr21:40421622..46914886 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053042]|See cases [RCV000053042] | Chr21:7749532..46623792 [GRCh38] Chr21:14595524..48043704 [GRCh37] Chr21:13517395..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053043]|See cases [RCV000053043] | Chr21:7749532..46623792 [GRCh38] Chr21:14629063..48043704 [GRCh37] Chr21:13550934..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670546)x3 | copy number gain | Cleft upper lip [RCV000053045]|Abnormality of the heart [RCV000053046]|See cases [RCV000053045] | Chr21:7749532..46670546 [GRCh38] Chr21:15499647..48090458 [GRCh37] Chr21:14421518..46914886 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | Abnormal facial shape [RCV000053065]|See cases [RCV000053065] | Chr21:7749532..46661140 [GRCh38] Chr21:15499647..48081052 [GRCh37] Chr21:14421518..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053067]|See cases [RCV000053067] | Chr21:7749532..46661140 [GRCh38] Chr21:15499847..48081052 [GRCh37] Chr21:14421718..46905480 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053068]|See cases [RCV000053068] | Chr21:7749532..46670405 [GRCh38] Chr21:20655360..48090317 [GRCh37] Chr21:19577231..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053069]|See cases [RCV000053069] | Chr21:7749532..46670405 [GRCh38] Chr21:34423268..48090317 [GRCh37] Chr21:33345138..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053039]|See cases [RCV000053039] | Chr21:7749532..46623792 [GRCh38] Chr21:14524963..48043704 [GRCh37] Chr21:13446834..46868132 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3 | copy number gain | Global developmental delay [RCV000053040]|Abnormal facial shape [RCV000053041]|See cases [RCV000053040] | Chr21:7749532..46653090 [GRCh38] Chr21:14539679..48073002 [GRCh37] Chr21:13461550..46897430 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
NM_005423.4(TFF2):c.360C>T (p.Phe120=) | single nucleotide variant | Malignant melanoma [RCV000072851] | Chr21:42347502 [GRCh38] Chr21:43767611 [GRCh37] Chr21:42640680 [NCBI36] Chr21:21q22.3 |
not provided |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3 | copy number gain | See cases [RCV000133676] | Chr21:7749532..42971047 [GRCh38] Chr21:15499847..44391157 [GRCh37] Chr21:14421718..43264226 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3 | copy number gain | See cases [RCV000134727] | Chr21:7749532..46653084 [GRCh38] Chr21:15485038..48072996 [GRCh37] Chr21:14406909..46897424 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3 | copy number gain | See cases [RCV000134509] | Chr21:7749532..46649831 [GRCh38] Chr21:14577835..48069743 [GRCh37] Chr21:13499706..46894171 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134119] | Chr21:7749532..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000135310] | Chr21:7749532..46670346 [GRCh38] Chr21:34111831..48090258 [GRCh37] Chr21:33033702..46914686 [NCBI36] Chr21:21q22.11-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3 | copy number gain | See cases [RCV000134972] | Chr21:36206067..46670405 [GRCh38] Chr21:37578365..48090317 [GRCh37] Chr21:36500235..46914745 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3 | copy number gain | See cases [RCV000134836] | Chr21:7749532..46664250 [GRCh38] Chr21:15485038..48084162 [GRCh37] Chr21:14406909..46908590 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3 | copy number gain | See cases [RCV000134842] | Chr21:7749532..46670440 [GRCh38] Chr21:15513244..48090352 [GRCh37] Chr21:14435115..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3 | copy number gain | See cases [RCV000135448] | Chr21:7749532..46660999 [GRCh38] Chr21:15499847..48080911 [GRCh37] Chr21:14421718..46905339 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3 | copy number gain | See cases [RCV000136142] | Chr21:36519173..46670405 [GRCh38] Chr21:37891471..48090317 [GRCh37] Chr21:36813341..46914745 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1 | copy number loss | See cases [RCV000136828] | Chr21:34789953..46636538 [GRCh38] Chr21:36162250..48056450 [GRCh37] Chr21:35084120..46880878 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137255] | Chr21:7749532..46671060 [GRCh38] Chr21:35319225..48090972 [GRCh37] Chr21:34241095..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000137337] | Chr21:7749532..46671060 [GRCh38] Chr21:10697897..48090972 [GRCh37] Chr21:1..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1 | copy number loss | See cases [RCV000137341] | Chr21:41733640..46671060 [GRCh38] Chr21:43153800..48090972 [GRCh37] Chr21:42026869..46915400 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138216] | Chr21:7749532..46671060 [GRCh38] Chr21:10944001..48090972 [GRCh37] Chr21:9965872..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1 | copy number loss | See cases [RCV000138096] | Chr21:37669628..46671060 [GRCh38] Chr21:39041930..48090972 [GRCh37] Chr21:37963800..46915400 [NCBI36] Chr21:21q22.13-22.3 |
pathogenic |
GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3 | copy number gain | See cases [RCV000138164] | Chr21:36066991..46671060 [GRCh38] Chr21:37439289..48090972 [GRCh37] Chr21:36361159..46915400 [NCBI36] Chr21:21q22.12-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3 | copy number gain | See cases [RCV000138436] | Chr21:7749532..46671060 [GRCh38] Chr21:15451032..48090972 [GRCh37] Chr21:14372903..46915400 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1 | copy number loss | See cases [RCV000139158] | Chr21:40296025..46670440 [GRCh38] Chr21:41667952..48090352 [GRCh37] Chr21:40589822..46914780 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3 | copy number gain | See cases [RCV000140103] | Chr21:7749532..46670346 [GRCh38] Chr21:14577894..48090258 [GRCh37] Chr21:13499765..46914686 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3 | copy number gain | See cases [RCV000141346] | Chr21:7749532..46698247 [GRCh38] Chr21:14577835..48118159 [GRCh37] Chr21:13499706..46942587 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000141827] | Chr21:7749532..46677460 [GRCh38] Chr21:28285299..48097372 [GRCh37] Chr21:27207170..46921800 [NCBI36] Chr21:21q21.3-22.3 |
uncertain significance |
GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1 | copy number loss | See cases [RCV000142311] | Chr21:38816399..46677460 [GRCh38] Chr21:40188323..48097372 [GRCh37] Chr21:39110193..46921800 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1 | copy number loss | See cases [RCV000142427] | Chr21:7817158..46670440 [GRCh38] Chr21:15485038..48090352 [GRCh37] Chr21:14406909..46914780 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143120] | Chr21:7749532..46677460 [GRCh38] Chr21:15006457..48097372 [GRCh37] Chr21:13928328..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1 | copy number loss | See cases [RCV000142650] | Chr21:39375937..44246148 [GRCh38] Chr21:40747863..45666031 [GRCh37] Chr21:39669733..44490459 [NCBI36] Chr21:21q22.2-22.3 |
pathogenic |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3 | copy number gain | See cases [RCV000143376] | Chr21:7749532..46677460 [GRCh38] Chr21:15006458..48097372 [GRCh37] Chr21:13928329..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:41368412-42556043)x3 | copy number gain | See cases [RCV000143383] | Chr21:41368412..42556043 [GRCh38] Chr21:42740339..43976153 [GRCh37] Chr21:41662209..42849222 [NCBI36] Chr21:21q22.3 |
likely benign|uncertain significance |
GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460) | copy number gain | See cases [RCV000143160] | Chr21:7749532..46677460 [GRCh38] Chr21:14386013..48097372 [GRCh37] Chr21:13307884..46921800 [NCBI36] Chr21:21q11.2-22.3 |
pathogenic |
GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1 | copy number loss | See cases [RCV000143335] | Chr21:42129699..46671060 [GRCh38] Chr21:43549809..48090972 [GRCh37] Chr21:42422878..46915400 [NCBI36] Chr21:21q22.3 |
pathogenic |
GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3 | copy number gain | See cases [RCV000148131] | Chr21:7749532..46670405 [GRCh38] Chr21:15499847..48090317 [GRCh37] Chr21:14421718..46914745 [NCBI36] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43749126-43904643)x1 | copy number loss | See cases [RCV000203432] | Chr21:43749126..43904643 [GRCh37] Chr21:21q22.3 |
uncertain significance |
Single allele | duplication | not provided [RCV000768458] | Chr21:43010560..48093051 [GRCh37] Chr21:21q22.3 |
likely pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1 | copy number loss | See cases [RCV000239948] | Chr21:15538655..48080926 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:39841248-44652723)x3 | copy number gain | See cases [RCV000239953] | Chr21:39841248..44652723 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3 | copy number gain | See cases [RCV000240397] | Chr21:15410701..48090317 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43268694-48097372)x1 | copy number loss | See cases [RCV000446372] | Chr21:43268694..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43598607-48097372)x1 | copy number loss | See cases [RCV000447618] | Chr21:43598607..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)x1 | copy number loss | See cases [RCV000448694] | Chr21:42410406..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3 | copy number gain | See cases [RCV000447884] | Chr21:14771770..48080867 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-44827632)x3 | copy number gain | See cases [RCV000448199] | Chr21:15006457..44827632 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43766629-43904583)x1 | copy number loss | See cases [RCV000448851] | Chr21:43766629..43904583 [GRCh37] Chr21:21q22.3 |
likely benign |
GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)x3 | copy number gain | See cases [RCV000447729] | Chr21:15285841..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 | copy number gain | See cases [RCV000447749] | Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1 | copy number loss | See cases [RCV000512071] | Chr21:43498966..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1 | copy number loss | See cases [RCV000510684] | Chr21:38699545..48097372 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1 | copy number loss | See cases [RCV000511808] | Chr21:41254101..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372) | copy number gain | See cases [RCV000511589] | Chr21:15006458..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1 | copy number loss | See cases [RCV000510798] | Chr21:37914123..48097372 [GRCh37] Chr21:21q22.13-22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1 | copy number loss | not provided [RCV000684165] | Chr21:42335622..48097372 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43415139-43845652)x3 | copy number gain | not provided [RCV000684144] | Chr21:43415139..43845652 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1 | copy number loss | not provided [RCV000684163] | Chr21:43687353..48097372 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10824040-48090629)x3 | copy number gain | not provided [RCV000741418] | Chr21:10824040..48090629 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10827533-48100155)x3 | copy number gain | not provided [RCV000741419] | Chr21:10827533..48100155 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:40364245-44169928)x1 | copy number loss | not provided [RCV000741567] | Chr21:40364245..44169928 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10699330-48117896)x3 | copy number gain | not provided [RCV000741413] | Chr21:10699330..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21p11.2-q22.3(chr21:10704198-48117896)x3 | copy number gain | not provided [RCV000741415] | Chr21:10704198..48117896 [GRCh37] Chr21:21p11.2-q22.3 |
pathogenic |
GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745) | copy number loss | not provided [RCV000767626] | Chr21:41537095..46914745 [GRCh37] Chr21:21q22.2-22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1 | copy number loss | not provided [RCV000849014] | Chr21:43756585..46240105 [GRCh37] Chr21:21q22.3 |
pathogenic |
GRCh37/hg19 21q22.3(chr21:43757247-43879787)x1 | copy number loss | not provided [RCV000846406] | Chr21:43757247..43879787 [GRCh37] Chr21:21q22.3 |
uncertain significance |
GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3 | copy number gain | not provided [RCV000846937] | Chr21:15006457..48097372 [GRCh37] Chr21:21q11.2-22.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:11756 | AgrOrtholog |
COSMIC | TFF2 | COSMIC |
Ensembl Genes | ENSG00000160181 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000291526 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Transcript | ENST00000291526 | ENTREZGENE, UniProtKB/Swiss-Prot |
GTEx | ENSG00000160181 | GTEx |
HGNC ID | HGNC:11756 | ENTREZGENE |
Human Proteome Map | TFF2 | Human Proteome Map |
InterPro | P_trefoil_chordata | UniProtKB/Swiss-Prot |
P_trefoil_CS | UniProtKB/Swiss-Prot | |
P_trefoil_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:7032 | UniProtKB/Swiss-Prot |
NCBI Gene | 7032 | ENTREZGENE |
OMIM | 182590 | OMIM |
PANTHER | PTHR13826 | UniProtKB/Swiss-Prot |
Pfam | Trefoil | UniProtKB/Swiss-Prot |
PharmGKB | PA36471 | PharmGKB |
PRINTS | PTREFOIL | UniProtKB/Swiss-Prot |
PROSITE | P_TREFOIL_1 | UniProtKB/Swiss-Prot |
P_TREFOIL_2 | UniProtKB/Swiss-Prot | |
SMART | SM00018 | UniProtKB/Swiss-Prot |
UniGene | Hs.2979 | ENTREZGENE |
UniProt | Q03403 | ENTREZGENE, UniProtKB/Swiss-Prot |
UniProt Secondary | Q15854 | UniProtKB/Swiss-Prot |
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More on TFF2 | |
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Alliance Gene |
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NCBI Gene |
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Ensembl Gene |
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JBrowse: hg19 hg38 |
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HGNC Report |
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NCBI Genome Data Viewer |
CRRD Object Information | |
CRRD ID: | 731368 |
Created: | 2004-01-12 |
Species: | Homo sapiens |
Last Modified: | 2019-11-26 |
Status: | ACTIVE |
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.