Imported Annotations - CTD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Experimental Liver Cirrhosis | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 |


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Imported Annotations - CTD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Experimental Liver Cirrhosis | EXP | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25380136 |
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1. | GOA_HUMAN data from the GO Consortium |
2. | RGD automated import pipeline for gene-chemical interactions |
PubMed | 7624774 8034671 9261167 9533013 10748068 12477932 14702039 14743216 15342556 15489334 16169070 17110338 17207965 17353931 17725712 18022941 18435749 18457437 19927312 20360068 20462248 20562859 20682791 21044367 21145461 21565611 21642987 21873635 21900206 21988832 22190034 22863883 22939629 23254330 23398456 23438482 23443559 23464991 23752268 23956138 24189400 24244333 24255178 24337577 24366813 25036637 25544563 25852190 25963833 26043024 26472760 26496610 26549023 26618866 26631746 26638075 26725010 26972000 27025967 27591049 27609421 27684187 27705803 27880917 28089446 28330616 28581483 28745317 29128334 29229926 29331416 29507755 29509190 29513927 29845934 30166453 30209976 30349055 31401313 |
RCN2 (Homo sapiens - human) |
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Rcn2 (Mus musculus - house mouse) |
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Rcn2 (Rattus norvegicus - Norway rat) |
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Rcn2 (Chinchilla lanigera - long-tailed chinchilla) |
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RCN2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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RCN2 (Canis lupus familiaris - dog) |
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Rcn2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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RCN2 (Sus scrofa - pig) |
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RH17429 |
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D15S1177 |
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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_001271837 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_002902 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AC051643 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AK126522 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK313833 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AL110102 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AV711990 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC004892 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BP275421 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BT009790 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471136 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
DB452318 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
HF583698 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X78669 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
X78670 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001271837 ⟹ NP_001258766 | ||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||
Position: |
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Sequence: |
ATAGGCCTCCTCCTGGCGCGCCTCCGCACCGCATTGGTGGACCGGCCCCCAGCCCGTCCATGGGhide sequence |
RefSeq Acc Id: | NM_002902 ⟹ NP_002893 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
ATAGGCCTCCTCCTGGCGCGCCTCCGCACCGCATTGGTGGACCGGCCCCCAGCCCGTCCATGGGhide sequence |
Protein RefSeqs | NP_001258766 | (Get FASTA) | NCBI Sequence Viewer |
NP_002893 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | AAH04892 | (Get FASTA) | NCBI Sequence Viewer |
AAP88792 | (Get FASTA) | NCBI Sequence Viewer | |
BAG36566 | (Get FASTA) | NCBI Sequence Viewer | |
CAA55343 | (Get FASTA) | NCBI Sequence Viewer | |
CCQ43195 | (Get FASTA) | NCBI Sequence Viewer | |
EAW99216 | (Get FASTA) | NCBI Sequence Viewer | |
Q14257 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002893 ⟸ NM_002902 |
- Peptide Label: | isoform a precursor |
- UniProtKB: | Q14257 (UniProtKB/Swiss-Prot) |
- Sequence: |
MRLGPRTAALGLLLLCAAAAGAGKAEELHYPLGERRSDYDREALLGVQEDVDEYVKLGHEEQQKhide sequence |
RefSeq Acc Id: | NP_001258766 ⟸ NM_001271837 |
- Peptide Label: | isoform b precursor |
- UniProtKB: | Q14257 (UniProtKB/Swiss-Prot) |
- Sequence: |
MRLGPRTAALGLLLLCAAAAGAGKAEELHYPLGERRSDYDREALLGVQEDVDEYVKLGHEEQQKhide sequence |
RGD ID: | 6792549 | |||||||||
Promoter ID: | HG_KWN:21995 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4 | |||||||||
Transcripts: | OTTHUMT00000289795, UC002BCE.1, UC010BKS.1 | |||||||||
Position: |
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RGD ID: | 7230187 | |||||||||
Promoter ID: | EPDNEW_H20840 | |||||||||
Type: | initiation region | |||||||||
Name: | RCN2_2 | |||||||||
Description: | reticulocalbin 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: | 7230191 | |||||||||
Promoter ID: | EPDNEW_H20841 | |||||||||
Type: | initiation region | |||||||||
Name: | RCN2_1 | |||||||||
Description: | reticulocalbin 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 15q24.2-26.3(chr15:75307767-101723215)x3 | copy number gain | Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] | Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3 |
pathogenic |
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1 | copy number loss | See cases [RCV000137079] | Chr15:76006154..79982417 [GRCh38] Chr15:76298495..80274759 [GRCh37] Chr15:74085550..78061814 [NCBI36] Chr15:15q24.2-25.1 |
pathogenic|uncertain significance |
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 | copy number loss | See cases [RCV000141666] | Chr15:70025300..78705993 [GRCh38] Chr15:70317639..78998335 [GRCh37] Chr15:68104693..76785390 [NCBI36] Chr15:15q23-25.1 |
pathogenic |
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 | copy number gain | See cases [RCV000142915] | Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3 |
pathogenic |
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 | copy number gain | See cases [RCV000143019] | Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 | copy number gain | See cases [RCV000511332] | Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3 |
pathogenic |
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3 | copy number gain | See cases [RCV000240526] | Chr15:74368270..78122737 [GRCh37] Chr15:15q24.1-24.3 |
uncertain significance |
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 | copy number gain | See cases [RCV000240602] | Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3 |
pathogenic |
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 | copy number gain | not provided [RCV000415836] | Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3 |
likely pathogenic |
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 | copy number gain | See cases [RCV000447123] | Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3 |
pathogenic |
GRCh37/hg19 15q24.2-24.3(chr15:76061143-78265674)x3 | copy number gain | See cases [RCV000446527] | Chr15:76061143..78265674 [GRCh37] Chr15:15q24.2-24.3 |
uncertain significance |
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 | copy number gain | See cases [RCV000447765] | Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 | copy number gain | See cases [RCV000510717] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) | copy number gain | See cases [RCV000512019] | Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3 |
pathogenic |
Single allele | duplication | not provided [RCV000677926] | Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3 |
pathogenic |
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 | copy number gain | not provided [RCV000683703] | Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3 |
pathogenic |
GRCh37/hg19 15q24.3(chr15:77202427-77279162)x1 | copy number loss | not provided [RCV000683709] | Chr15:77202427..77279162 [GRCh37] Chr15:15q24.3 |
uncertain significance |
Single allele | duplication | Schizophrenia [RCV000754167] | Chr15:74071509..77878298 [GRCh38] Chr15:15q24.1-24.3 |
likely pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 | copy number gain | not provided [RCV000751156] | Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 | copy number gain | not provided [RCV000751155] | Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:9935 | AgrOrtholog |
COSMIC | RCN2 | COSMIC |
Ensembl Genes | ENSG00000117906 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000319739 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000378347 | UniProtKB/TrEMBL | |
ENSP00000378349 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000453052 | UniProtKB/TrEMBL | |
Ensembl Transcript | ENST00000320963 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000394883 | UniProtKB/TrEMBL | |
ENST00000394885 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000557805 | UniProtKB/TrEMBL | |
GTEx | ENSG00000117906 | GTEx |
HGNC ID | HGNC:9935 | ENTREZGENE |
Human Proteome Map | RCN2 | Human Proteome Map |
InterPro | EF-hand-dom_pair | UniProtKB/Swiss-Prot |
EF_Hand_1_Ca_BS | UniProtKB/Swiss-Prot | |
EF_hand_dom | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:5955 | UniProtKB/Swiss-Prot |
NCBI Gene | 5955 | ENTREZGENE |
OMIM | 602584 | OMIM |
Pfam | EF-hand_5 | UniProtKB/Swiss-Prot |
EF-hand_7 | UniProtKB/TrEMBL | |
PharmGKB | PA34304 | PharmGKB |
PROSITE | EF_HAND_1 | UniProtKB/Swiss-Prot |
EF_HAND_2 | UniProtKB/Swiss-Prot | |
ER_TARGET | UniProtKB/Swiss-Prot | |
SMART | EFh | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF47473 | UniProtKB/Swiss-Prot |
UniGene | Hs.79088 | ENTREZGENE |
UniProt | A8MXP8_HUMAN | UniProtKB/TrEMBL |
H0YL43_HUMAN | UniProtKB/TrEMBL | |
L8E7F0_HUMAN | UniProtKB/TrEMBL | |
Q14257 | ENTREZGENE, UniProtKB/Swiss-Prot | |
UniProt Secondary | A8MTG6 | UniProtKB/Swiss-Prot |
F8WCY5 | UniProtKB/Swiss-Prot | |
Q53XN8 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2015-11-24 | RCN2 | reticulocalbin 2 | reticulocalbin 2, EF-hand calcium binding domain | Symbol and/or name change | 5135510 | APPROVED | |
2011-09-01 | RCN2 | reticulocalbin 2, EF-hand calcium binding domain | RCN2 | reticulocalbin 2, EF-hand calcium binding domain | Symbol and/or name change | 5135510 | APPROVED |
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More on RCN2 | |
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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: | 733014 |
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.