ADAM2 ADAM metallopeptidase domain 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ADAM2provided by HGNC
Official Full Name: ADAM metallopeptidase domain 2provided by HGNC
Primary source: HGNC:HGNC:198
See related: Ensembl:ENSG00000104755 MIM:601533; AllianceGenome:HGNC:198
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CT15; FTNB; PH30; CRYN1; CRYN2; PH-30b; PH30-beta
Summary: This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. The encoded protein is a subunit of an integral sperm membrane glycoprotein called fertilin, which plays an important role in sperm-egg interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
Expression: Restricted expression toward testis (RPKM 28.4) See more
Orthologs: mouse all
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Genomic context

Location:: 8p11.22

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (39743735..39838227, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (40020946..40115447, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (39601254..39695746, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Is there a relationship between infertility and fertilin beta protein distribution?
Title: Is there a relationship between infertility and fertilin β protein distribution?
Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection.
Title: Assessing the potential of HSPA2 and ADAM2 as two biomarkers for human sperm selection.
ADAM2, CALR3 and SAGE1 cancer/testis antigens are not promising targets for immunotherapy of breast and lung cancer.
Title: Lack of ADAM2, CALR3 and SAGE1 Cancer/Testis Antigen Expression in Lung and Breast Cancer.
The fertilin beta contributes not only to successful fertilization, but may has an important impact in development of preimplantation embryos.
Title: Association between fertilin beta, protamines 1 and 2 and spermatid-specific linker histone H1-like protein mRNA levels, fertilization ability of human spermatozoa, and quality of preimplantation embryos.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-111659 (e-PCR)
- UniSTS:168466

RH70674 (e-PCR)
- UniSTS:33582

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables integrin binding	TAS Traceable Author Statement more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metallopeptidase activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in adult behavior	IEA Inferred from Electronic Annotation more info
involved_in binding of sperm to zona pellucida	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in fusion of sperm to egg plasma membrane involved in single fertilization	TAS Traceable Author Statement more info	PubMed
involved_in male gonad development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual learning	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell surface	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: disintegrin and metalloproteinase domain-containing protein 2

Names: cancer/testis antigen 15; fertilin subunit beta

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001278113.2 → NP_001265042.1 disintegrin and metalloproteinase domain-containing protein 2 isoform 2 precursor

See identical proteins and their annotated locations for NP_001265042.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal in-frame exon in the coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AP005902, BC034957

Consensus CDS

CCDS64882.1

UniProtKB/Swiss-Prot

Q99965

Related

ENSP00000343854.4, ENST00000347580.8

Conserved Domains (4) summary

smart00050
Location:374 → 451

DISIN; Homologues of snake disintegrins

smart00608
Location:453 → 590

ACR; ADAM Cysteine-Rich Domain

pfam01421
Location:171 → 356

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:26 → 141

Pep_M12B_propep; Reprolysin family propeptide
NM_001278114.2 → NP_001265043.1 disintegrin and metalloproteinase domain-containing protein 2 isoform 3 precursor

See identical proteins and their annotated locations for NP_001265043.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site and lacks an internal exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.

Source sequence(s)

AK301734, BC034957

Consensus CDS

CCDS64883.1

UniProtKB/TrEMBL

B4DWY7

Related

ENSP00000429352.1, ENST00000521880.5

Conserved Domains (5) summary

smart00050
Location:393 → 470

DISIN; Homologues of snake disintegrins

smart00608
Location:472 → 536

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:178 → 373

ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...

pfam01421
Location:178 → 375

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:42 → 140

Pep_M12B_propep; Reprolysin family propeptide
NM_001464.5 → NP_001455.3 disintegrin and metalloproteinase domain-containing protein 2 isoform 1 preproprotein

See identical proteins and their annotated locations for NP_001455.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AJ133005, AP005902, U38805

Consensus CDS

CCDS34884.1

UniProtKB/Swiss-Prot

P78326, Q99965, Q9UQQ8

Related

ENSP00000265708.4, ENST00000265708.9

Conserved Domains (5) summary

smart00050
Location:393 → 470

DISIN; Homologues of snake disintegrins

smart00608
Location:472 → 609

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:178 → 373

ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...

pfam01421
Location:178 → 375

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:42 → 140

Pep_M12B_propep; Reprolysin family propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

39743735..39838227 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011544480.1 → XP_011542782.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X3

See identical proteins and their annotated locations for XP_011542782.1

UniProtKB/TrEMBL

Q6P2G0

Related

ENSP00000369182.2, ENST00000379853.6

Conserved Domains (4) summary

smart00050
Location:267 → 344

DISIN; Homologues of snake disintegrins

smart00608
Location:346 → 453

ACR; ADAM Cysteine-Rich Domain

pfam01562
Location:26 → 141

Pep_M12B_propep; Reprolysin family propeptide

cl26139
Location:170 → 249

Reprolysin; Reprolysin (M12B) family zinc metalloprotease
XM_011544479.1 → XP_011542781.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X2

See identical proteins and their annotated locations for XP_011542781.1

Conserved Domains (4) summary

smart00050
Location:267 → 344

DISIN; Homologues of snake disintegrins

smart00608
Location:346 → 483

ACR; ADAM Cysteine-Rich Domain

pfam01562
Location:42 → 140

Pep_M12B_propep; Reprolysin family propeptide

cl00064
Location:170 → 247

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
XM_005273468.1 → XP_005273525.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X1

See identical proteins and their annotated locations for XP_005273525.1

Conserved Domains (5) summary

smart00050
Location:393 → 470

DISIN; Homologues of snake disintegrins

smart00608
Location:472 → 579

ACR; ADAM Cysteine-Rich Domain

cd04269
Location:178 → 373

ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...

pfam01421
Location:178 → 375

Reprolysin; Reprolysin (M12B) family zinc metalloprotease

pfam01562
Location:42 → 140

Pep_M12B_propep; Reprolysin family propeptide

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187577.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

494374..588863 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328860.1 → XP_054184835.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X3

UniProtKB/TrEMBL

Q6P2G0
XM_054328859.1 → XP_054184834.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X2
XM_054328858.1 → XP_054184833.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

40020946..40115447 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054360242.1 → XP_054216217.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X3

UniProtKB/TrEMBL

Q6P2G0
XM_054360241.1 → XP_054216216.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X2
XM_054360240.1 → XP_054216215.1 disintegrin and metalloproteinase domain-containing protein 2 isoform X1