1. Gene
  2. NECTIN3 - nectin cell adhesion molecule 3 Gene

NECTIN3 - nectin cell adhesion molecule 3 Gene

中文名称:连接蛋白细胞粘附分子 3

种属: Homo sapiens

同用名: PPR3; PRR3; CD113; PVRL3; PVRR3; CDW113; NECTIN-3

基因 ID: 25945 | 基因类型: protein coding

关于 NECTIN3

Cytogenetic location: 3q13.13 Genomic coordinates (GRCh38): 3:111,071,816-111,194,170 (from NCBI)

This gene has 11 transcripts (splice variants), 285 orthologues and 14 paralogues. Broad expression in thyroid (RPKM 7.4), testis (RPKM 7.4) and 22 other tissues.

功能概要

该基因编码连接蛋白家族的一个成员,其在粘附连接处起粘附分子的作用。该家族成员与其他 nectin 样蛋白和 afadin 相互作用,afadin 是一种丝状肌动蛋白结合蛋白,参与定向运动、细胞增殖和存活的调节。该基因在涉及睫状体的眼部发育中发挥作用。该基因的突变被认为会导致先天性眼部缺陷。可变剪接导致多个转录本变体。[RefSeq 提供,2011 年 8 月]

This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

NECTIN3 基因产物(3)

mRNA Protein Name
NM_001243286.2 NP_001230215.1 nectin-3 isoform 2 precursor
NM_001243288.2 NP_001230217.1 nectin-3 isoform 3
NM_015480.3 NP_056295.1 nectin-3 isoform 1 precursor

NECTIN3 蛋白结构

V-set

V-set: Immunoglobulin V-set domain (64 - 166)

C2-set_2

C2-set_2: CD80-like C2-set immunoglobulin domain (175 - 256)

Ig_2

Ig_2: Immunoglobulin domain (287 - 348)

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  • 549 a.a.
蛋白主名 其他名称

nectin-3

nectin 3

重组 NECTIN3 蛋白

关联疾病

疾病名称 别名
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome

Orofacial Cleft 7

Zlotogora-Ogur Syndrome

CLPED1

Ectodermal Dysplasia, Margarita Island Type

Ed4

Cleft Lip-Palate-Ectodermal Dysplasia Syndrome

Cleft Lip/Palate-Syndactyly-Pili Torti Syndrome

Syndactyly-Ectodermal Dysplasia-Cleft/Lip Palate

Ectodermal Dysplasia 4

Ectodermal Dysplasia Margarita Type

Ectodermal Dysplasia, Type 4

Ectodermal Dysplasia, Cleft Lip And Palate, Mental Retardation, And Syndactyly

Margarita Type Of Ectodermal Dysplasia

Zlotogora-Zilberman-Tenenbaum Syndrome

Ectd4

Ectodermal Dysplasia 4, Hair/Nail Type

EDMI

Ectodermal Dysplasia Type 4

Margarita Island Ectodermal Dysplasia

Syndactyly-Ectodermal Dysplasia-Cleft Lip/Palate

Non-Syndromic Orofacial Cleft 7

OFC7

Non-Syndromic Cleft Lip/Palate 7

Non-Syndromic Cleft Lip With Or Without Cleft Palate 7

Clostridium Difficile Colitis

Pseudomembranous Colitis

Colitis Pseudomembranous

Enterocolitis, Pseudomembranous

Pseudomembranous Enterocolitis

Clostridium Difficile Infection

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
Felis catus NECTIN3 VGNC VGNC:102787
Rattus norvegicus NECTIN3 RGD RGD:1309516
Mus musculus NECTIN3 MGD MGI:1930171
Macaca mulatta NECTIN3 VGNC VGNC:83928
Bos taurus NECTIN3 VGNC VGNC:106835