Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ADAM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | genetic disease | | ISO | ADAM2 (Homo sapiens) | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | |
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# | Reference Title | Reference Citation |
1. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
2. | Altered cell-matrix associated ADAM proteins in Alzheimer disease. | Gerst JL, etal., J Neurosci Res. 2000 Mar 1;59(5):680-4. |
3. | Rat ISS GO annotations from GOA human gene data--August 2006 | GOA data from the GO Consortium |
4. | Cloning and sequence analysis of rat fertilin alpha and beta--developmental expression, processing and immunolocalization. | McLaughlin EA, etal., Mol Hum Reprod 1997 Sep;3(9):801-9. |
5. | Rat ISS GO annotations from MGI mouse gene data--August 2006 | MGD data from the GO Consortium |
6. | Electronic Transfer of LocusLink and RefSeq Data | NCBI rat LocusLink and RefSeq merged data July 26, 2002 |
7. | GOA pipeline | RGD automated data pipeline |
8. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
9. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
10. | Comprehensive gene review and curation | RGD comprehensive gene curation |
11. | Chronological gene expression of ADAMs during testicular development: prespermatogonia (gonocytes) express fertilin beta (ADAM2). | Rosselot C, etal., Dev Dyn. 2003 Jul;227(3):458-67. |
12. | Localization of 54 rat genes, and definition of new synteny groups conserved in the human and the rat. | Szpirer C, etal., Mamm Genome 2000 Sep;11(9):729-35 |
13. | Monitoring changes in gene expression in renal ischemia-reperfusion in the rat. | Yoshida T, etal., Kidney Int. 2002 May;61(5):1646-54. |
PMID:16504143 | PMID:19129510 | PMID:21060781 | PMID:21273369 | PMID:30396079 |
Adam2 (Rattus norvegicus - Norway rat) |
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ADAM2 (Homo sapiens - human) |
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Adam2 (Mus musculus - house mouse) |
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Adam2 (Chinchilla lanigera - long-tailed chinchilla) |
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ADAM2 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ADAM2 (Canis lupus familiaris - dog) |
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Adam2 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ADAM2 (Sus scrofa - pig) |
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ADAM2 (Chlorocebus sabaeus - green monkey) |
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Adam2 (Heterocephalus glaber - naked mole-rat) |
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Variants in Adam2
288 total Variants |
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. |
The following QTLs overlap with this region. | Full Report | CSV | TAB | Printer | Gviewer |
Adam2 |
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alimentary part of gastrointestinal system | endocrine system | exocrine system | hemolymphoid system | hepatobiliary system | integumental system | musculoskeletal system | nervous system | renal system | reproductive system | respiratory system | appendage | |
High | ||||||||||||
Medium | 7 | |||||||||||
Low | 6 | 6 | 6 | 2 | 2 | 5 | 5 | 2 | ||||
Below cutoff | 1 | 28 | 24 | 6 | 24 | 3 | 5 | 22 | 2 | 18 | 4 | 3 |
RefSeq Acc Id: | ENSRNOT00000066478 ⟹ ENSRNOP00000061122 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | ENSRNOT00000118188 ⟹ ENSRNOP00000084478 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_020077 ⟹ NP_064462 | ||||||||||||||||||||||||||||
RefSeq Status: | VALIDATED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
RefSeq Acc Id: | XM_039093614 ⟹ XP_038949542 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039093615 ⟹ XP_038949543 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039093616 ⟹ XP_038949544 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_039093617 ⟹ XP_038949545 | ||||||||||||
Type: | CODING | ||||||||||||
Position: |
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RefSeq Acc Id: | XM_063274593 ⟹ XP_063130663 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NP_064462 ⟸ NM_020077 |
- Peptide Label: | precursor |
- UniProtKB: | A6K6L5 (UniProtKB/TrEMBL), F1M6W4 (UniProtKB/TrEMBL) |
- Sequence: |
RefSeq Acc Id: | ENSRNOP00000061122 ⟸ ENSRNOT00000066478 |
RefSeq Acc Id: | XP_038949542 ⟸ XM_039093614 |
- Peptide Label: | isoform X1 |
- UniProtKB: | F1M6W4 (UniProtKB/TrEMBL) |
RefSeq Acc Id: | XP_038949543 ⟸ XM_039093615 |
- Peptide Label: | isoform X2 |
RefSeq Acc Id: | XP_038949544 ⟸ XM_039093616 |
- Peptide Label: | isoform X3 |
RefSeq Acc Id: | XP_038949545 ⟸ XM_039093617 |
- Peptide Label: | isoform X4 |
RefSeq Acc Id: | ENSRNOP00000084478 ⟸ ENSRNOT00000118188 |
RefSeq Acc Id: | XP_063130663 ⟸ XM_063274593 |
- Peptide Label: | isoform X2 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-Q63202-F1-model_v2 | AlphaFold | Q63202 | 1-737 | view protein structure |
eQTL | View at Phenogen | |
WGCNA | View at Phenogen | |
Tissue/Strain Expression | View at Phenogen |
RGD ID: | 13699754 | ||||||||
Promoter ID: | EPDNEW_R10277 | ||||||||
Type: | multiple initiation site | ||||||||
Name: | Adam2_1 | ||||||||
Description: | ADAM metallopeptidase domain 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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Database | Acc Id | Source(s) |
AGR Gene | RGD:69299 | AgrOrtholog |
BioCyc Gene | G2FUF-13333 | BioCyc |
Ensembl Genes | ENSRNOG00000017027 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
Ensembl Transcript | ENSRNOT00000066478 | ENTREZGENE |
ENSRNOT00000066478.4 | UniProtKB/TrEMBL | |
ENSRNOT00000118188.1 | UniProtKB/TrEMBL | |
Gene3D-CATH | 3.40.390.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
4.10.70.10 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
InterPro | ADAM_Cys-rich | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Disintegrin_CS | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Disintegrin_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Disintegrin_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF-like_dom | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
MetalloPept_cat_dom_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_M12B | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Peptidase_M12B_N | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Reprolysin_adamalysin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
KEGG Report | rno:56806 | UniProtKB/Swiss-Prot |
NCBI Gene | 56806 | ENTREZGENE |
PANTHER | ADAM A DISINTEGRIN AND METALLOPROTEASE DOMAIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
PTHR11905:SF108 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pfam | ADAM_CR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Disintegrin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Pep_M12B_propep | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Reprolysin | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
PhenoGen | Adam2 | PhenoGen |
PROSITE | ADAM_MEPRO | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DISINTEGRIN_1 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
DISINTEGRIN_2 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
EGF_3 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
RatGTEx | ENSRNOG00000017027 | RatGTEx |
SMART | ACR | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
DISIN | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Superfamily-SCOP | Metalloproteases ('zincins'), catalytic domain | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
SSF57552 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | A0A8I5ZZF4_RAT | UniProtKB/TrEMBL |
A6K6L5 | ENTREZGENE, UniProtKB/TrEMBL | |
ADAM2_RAT | UniProtKB/Swiss-Prot | |
F1M6W4 | ENTREZGENE, UniProtKB/TrEMBL | |
Q63202 | ENTREZGENE |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
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2008-09-18 | Adam2 | ADAM metallopeptidase domain 2 | Adam2 | a disintegrin and metallopeptidase domain 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2008-02-18 | Adam2 | a disintegrin and metallopeptidase domain 2 | Adam2 | a disintegrin and metalloprotease domain 2 | Nomenclature updated to reflect human and mouse nomenclature | 1299863 | APPROVED |
2002-06-10 | Adam2 | a disintegrin and metalloprotease domain 2 | Name updated | 70584 | APPROVED |
Note Type | Note | Reference |
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gene_cellular_localization | localized to the acrosomal cap of spermatozoa and elongating spermatids | 68863 |
gene_process | sperm surface membrane protein that may be involved in sperm-egg plasma membrane adhesion and fusion during fertilization; may have a direct role in sperm-zona binding or migration of sperm from the uterus into the oviduct | 724707 |
gene_product | member of the MDC (metalloproteinase-like, disintegrin-like, cysteine-rich) protein family; non catalytic | 724707 |
gene_regulation | interactions with egg membrane could be mediated via binding between its disintegrin-like domain to one or more integrins receptors on the egg | 68863 |