1. Gene
  2. ADAM2 - ADAM metallopeptidase domain 2 Gene

ADAM2 - ADAM metallopeptidase domain 2 Gene

中文名称:ADAM 金属肽酶域 2

种属: Homo sapiens

同用名: CT15; FTNB; PH30; CRYN1; CRYN2; PH-30b; PH30-beta

基因 ID: 2515 | 基因类型: protein coding

关于 ADAM2

Cytogenetic location: 8p11.22 Genomic coordinates (GRCh38): 8:39,743,735-39,838,227 (from NCBI)

This gene has 6 transcripts (splice variants), 1 gene allele, 361 orthologues and 20 paralogues. Restricted expression toward testis (RPKM 28.4).

功能概要

该基因编码 ADAM (一种去整合素和金属蛋白酶结构域) 家族的成员。该家族的成员是膜锚定蛋白,在结构上与蛇毒解离蛋白相关,并且涉及涉及细胞-细胞和细胞-基质相互作用的各种生物过程,包括受精、肌肉发育和神经发生。编码的蛋白质是一种称为受精蛋白的完整精子膜糖蛋白的亚基,它在精子-卵子相互作用中起着重要作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2013 年 5 月]

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]

ADAM2 基因产物(3)

mRNA Protein Name
NM_001278113.2 NP_001265042.1 disintegrin and metalloproteinase domain-containing protein 2 isoform 2 precursor
NM_001278114.2 NP_001265043.1 disintegrin and metalloproteinase domain-containing protein 2 isoform 3 precursor
NM_001464.5 NP_001455.3 disintegrin and metalloproteinase domain-containing protein 2 isoform 1 preproprotein

ADAM2 蛋白结构

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (39 - 141)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (178 - 375)

Disintegrin

Disintegrin: Disintegrin (393 - 470)

ADAM_CR

ADAM_CR: ADAM cysteine-rich (474 - 588)

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  • 735 a.a.
蛋白主名 其他名称

disintegrin and metalloproteinase domain-containing protein 2

cancer/testis antigen 15

关联疾病

疾病名称 别名
Meckel Syndrome, Type 3

MKS3

Meckel Syndrome 3

Meckel-Gruber Syndrome, Type 3

Meckel Syndrome Type 3

Severe Congenital Neutropenia 4

Autosomal Recessive Severe Congenital Neutropenia Due To G6pc3 Deficiency

Scn4

Severe Congenital Neutropenia-Pulmonary Hypertension-Superficial Venous Angiectasis Syndrome

Dursun Syndrome

Severe Congenital Neutropenia Type 4

Gait Apraxia
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Bos taurus ADAM2 VGNC VGNC:55029
Macaca mulatta ADAM2 VGNC VGNC:83976
Rattus norvegicus ADAM2 RGD RGD:69299
Mus musculus ADAM2 MGD MGI:1340894
Felis catus ADAM2 VGNC VGNC:59579