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Molecular Function
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Analyze GeneStrainQTL List |
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![]() Biological Process Term | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | DNA metabolic process | | IEA | GO:0008310 | 2290271 | | GOC | GO_REF:0000108 | RNA phosphodiester bond hydrolysis, exonucleolytic | | IEA | GO:0000175 | 2290271 | | GOC | GO_REF:0000108 | |
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1. | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
2. | RGD automated import pipeline for gene-chemical interactions |
ERI2 (Homo sapiens - human) |
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Eri2 (Mus musculus - house mouse) |
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Eri2 (Rattus norvegicus - Norway rat) |
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Eri2 (Chinchilla lanigera - long-tailed chinchilla) |
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ERI2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ERI2 (Canis lupus familiaris - dog) |
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Eri2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ERI2 (Sus scrofa - pig) |
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SHGC-60770 |
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SHGC-60682 |
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SHGC-68627 |
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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_001142725 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
NM_080663 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
GenBank Nucleotide | AB040937 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AC004381 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK127391 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK292594 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AK304347 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC010503 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BX437401 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471228 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
KC877592 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | NM_001142725 ⟹ NP_001136197 | |||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | |||||||||||||||||||||||||||||
Type: | CODING | |||||||||||||||||||||||||||||
Position: |
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Sequence: |
CGACTTCCGGCAGCTGGACTTGGAAAAGCAAGGAGTGTCGGGAATGGCGACCAAGCGGCTCGCGhide sequence |
RefSeq Acc Id: | NM_080663 ⟹ NP_542394 | ||||||||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||||||||
Position: |
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Sequence: |
CGACTTCCGGCAGCTGGACTTGGAAAAGCAAGGAGTGTCGGGAATGGCGACCAAGCGGCTCGCGhide sequence |
Protein RefSeqs | NP_001136197 | (Get FASTA) | NCBI Sequence Viewer |
NP_542394 | (Get FASTA) | NCBI Sequence Viewer | |
GenBank Protein | A8K979 | (Get FASTA) | NCBI Sequence Viewer |
AAC31669 | (Get FASTA) | NCBI Sequence Viewer | |
AAH10503 | (Get FASTA) | NCBI Sequence Viewer | |
BAA96028 | (Get FASTA) | NCBI Sequence Viewer | |
BAC86956 | (Get FASTA) | NCBI Sequence Viewer | |
BAF85283 | (Get FASTA) | NCBI Sequence Viewer | |
BAG65191 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66836 | (Get FASTA) | NCBI Sequence Viewer | |
EAW66837 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_542394 ⟸ NM_080663 |
- Peptide Label: | isoform 2 |
- UniProtKB: | A8K979 (UniProtKB/Swiss-Prot) |
- Sequence: |
MATKRLARQLGLIRRKSIAPANGNLGRSKSKQLFDYLIVIDFESTCWNDGKHHHSQEIIEFPAVhide sequence |
RefSeq Acc Id: | NP_001136197 ⟸ NM_001142725 |
- Peptide Label: | isoform 1 |
- UniProtKB: | A8K979 (UniProtKB/Swiss-Prot) |
- Sequence: |
MATKRLARQLGLIRRKSIAPANGNLGRSKSKQLFDYLIVIDFESTCWNDGKHHHSQEIIEFPAVhide sequence |
RGD ID: | 6793122 | |||||||||
Promoter ID: | HG_KWN:23211 | |||||||||
Type: | CpG-Island | |||||||||
SO ACC ID: | SO:0000170 | |||||||||
Source: | MPROMDB | |||||||||
Tissues & Cell Lines: | CD4+TCell, HeLa_S3 | |||||||||
Transcripts: | NM_001142725, OTTHUMT00000254419, UC002DHU.1, UC010BWH.1 | |||||||||
Position: |
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RGD ID: | 7231521 | |||||||||
Promoter ID: | EPDNEW_H21506 | |||||||||
Type: | initiation region | |||||||||
Name: | ERI2_1 | |||||||||
Description: | ERI1 exoribonuclease family member 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: | 7231523 | |||||||||
Promoter ID: | EPDNEW_H21508 | |||||||||
Type: | initiation region | |||||||||
Name: | AC004381_3 | |||||||||
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 16p13.11-12.1(chr16:14954894-28306843)x3 | copy number gain | Nonsyndromic microcephaly [RCV000051828]|See cases [RCV000051828] | Chr16:14954894..28306843 [GRCh38] Chr16:15048751..28318164 [GRCh37] Chr16:14956252..28225665 [NCBI36] Chr16:16p13.11-12.1 |
pathogenic |
NM_005622.3(ACSM3):c.992G>A (p.Arg331Gln) | single nucleotide variant | Malignant melanoma [RCV000071021] | Chr16:20781760 [GRCh38] Chr16:20793082 [GRCh37] Chr16:20700583 [NCBI36] Chr16:16p12.3 |
not provided |
NM_005622.3(ACSM3):c.1173G>A (p.Met391Ile) | single nucleotide variant | Malignant melanoma [RCV000071022] | Chr16:20786107 [GRCh38] Chr16:20797429 [GRCh37] Chr16:20704930 [NCBI36] Chr16:16p12.3 |
not provided |
NM_202000.2(ACSM3):c.1241C>T (p.Ser414Phe) | single nucleotide variant | Malignant melanoma [RCV000071023] | Chr16:20786175 [GRCh38] Chr16:20797497 [GRCh37] Chr16:20704998 [NCBI36] Chr16:16p12.3 |
not provided |
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 | copy number gain | See cases [RCV000133809] | Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2 |
pathogenic |
GRCh38/hg38 16p12.3-12.2(chr16:20408020-21244474)x1 | copy number loss | See cases [RCV000139900] | Chr16:20408020..21244474 [GRCh38] Chr16:20419342..21255795 [GRCh37] Chr16:20326843..21163296 [NCBI36] Chr16:16p12.3-12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 | copy number gain | See cases [RCV000203445] | Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 | copy number gain | Ductal breast carcinoma [RCV000207226] | Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 | copy number gain | Ductal breast carcinoma [RCV000207053] | Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 | copy number gain | See cases [RCV000449403] | Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.3-12.2(chr16:20258837-21405328)x3 | copy number gain | See cases [RCV000447220] | Chr16:20258837..21405328 [GRCh37] Chr16:16p12.3-12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 | copy number gain | See cases [RCV000446684] | Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 | copy number gain | See cases [RCV000511622] | Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
maternal UPD(16p) | complex | Hemimegalencephaly [RCV000494707] | Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 | copy number gain | See cases [RCV000512138] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 | copy number gain | See cases [RCV000511360] | Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) | copy number gain | See cases [RCV000511296] | Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 | copy number gain | See cases [RCV000512428] | Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 | copy number gain | not provided [RCV000738918] | Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 | copy number gain | not provided [RCV000738915] | Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 | copy number gain | not provided [RCV000738917] | Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
Database | Acc Id | Source(s) |
AGR Gene | HGNC:30541 | AgrOrtholog |
COSMIC | ERI2 | COSMIC |
Ensembl Genes | ENSG00000196678 | ENTREZGENE, UniProtKB/Swiss-Prot |
Ensembl Protein | ENSP00000300005 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENSP00000350651 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENSP00000454661 | UniProtKB/Swiss-Prot | |
ENSP00000454720 | UniProtKB/TrEMBL | |
ENSP00000455982 | UniProtKB/Swiss-Prot | |
ENSP00000457488 | UniProtKB/Swiss-Prot | |
Ensembl Transcript | ENST00000300005 | ENTREZGENE, UniProtKB/Swiss-Prot |
ENST00000357967 | ENTREZGENE, UniProtKB/Swiss-Prot | |
ENST00000563117 | UniProtKB/Swiss-Prot | |
ENST00000564349 | UniProtKB/Swiss-Prot | |
ENST00000568805 | UniProtKB/TrEMBL | |
ENST00000569729 | UniProtKB/Swiss-Prot | |
Gene3D-CATH | 3.30.420.10 | UniProtKB/Swiss-Prot |
GTEx | ENSG00000196678 | GTEx |
HGNC ID | HGNC:30541 | ENTREZGENE |
Human Proteome Map | ERI2 | Human Proteome Map |
InterPro | Exonuclease_RNaseT/DNA_pol3 | UniProtKB/Swiss-Prot |
RNaseH-like_sf | UniProtKB/Swiss-Prot | |
RNaseH_sf | UniProtKB/Swiss-Prot | |
Znf_GRF | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:112479 | UniProtKB/Swiss-Prot |
NCBI Gene | 112479 | ENTREZGENE |
Pfam | RNase_T | UniProtKB/Swiss-Prot |
zf-GRF | UniProtKB/Swiss-Prot | |
PharmGKB | PA164719245 | PharmGKB |
SMART | EXOIII | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF53098 | UniProtKB/Swiss-Prot |
UniGene | Hs.248437 | ENTREZGENE |
UniProt | A8K979 | ENTREZGENE, UniProtKB/Swiss-Prot |
H3BN77_HUMAN | UniProtKB/TrEMBL | |
UniProt Secondary | Q6ZSJ2 | UniProtKB/Swiss-Prot |
Q96FR9 | UniProtKB/Swiss-Prot | |
Q9P224 | UniProtKB/Swiss-Prot | |
Q9Y6V3 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2011-07-27 | ERI2 | ERI1 exoribonuclease family member 2 | ERI2 | exoribonuclease 2 | Symbol and/or name change | 5135510 | APPROVED |
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More on ERI2 | |
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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: | 1605306 |
Created: | 2007-04-28 |
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.