1. Gene
  2. CPNE4 - copine 4 Gene

CPNE4 - copine 4 Gene

中文名称:应对 4

种属: Homo sapiens

同用名: CPN4; COPN4

基因 ID: 131034 | 基因类型: protein coding

关于 CPNE4

Cytogenetic location: 3q22.1 Genomic coordinates (GRCh38): 3:131,533,569-132,039,606 (from NCBI)

This gene has 14 transcripts (splice variants), 317 orthologues and 8 paralogues. Biased expression in prostate (RPKM 9.1), brain (RPKM 2.4) and 2 other tissues.

功能概要

该基因属于高度保守的 copine 家族。它编码一种钙依赖性磷脂结合蛋白,可能参与膜运输、有丝分裂和发育。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 1 月]

This gene belongs to the highly conserved copine family. It encodes a calcium-dependent, phospholipid-binding protein, which may be involved in membrane trafficking, mitogenesis and development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

CPNE4 基因产物(5)

mRNA Protein Name
NM_001289112.2 NP_001276041.1 copine-4 isoform 1
NM_001388326.1 NP_001375255.1 copine-4 isoform 3
NM_001388327.1 NP_001375256.1 copine-4 isoform 3
NM_130808.3 NP_570720.1 copine-4 isoform 2
NM_153429.2 NP_702907.1 copine-4 isoform 1

CPNE4 蛋白结构

C2

C2: C2 domain (31 - 113)

C2

C2: C2 domain (162 - 245)

Copine

Copine: Copine (326 - 473)

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  • 500
  • 557 a.a.
蛋白主名 其他名称

copine-4

copine 8

关联疾病

疾病名称 别名
Baraitser-Winter Syndrome

Fryns-Aftimos Syndrome

Brws

Cerebro-Frontofacial Syndrome, Type 3

Iris Coloboma With Ptosis, Hypertelorism, And Mental Retardation

Iris Coloboma With Ptosis Hypertelorism And Intellectual Disability

Trigonocephaly Ptosis Coloboma

Trigonocephaly Ptosis Intellectual Disability

Cerebrofrontofacial Syndrome Type 3

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
Mus musculus CPNE4 MGD MGI:1921270
Bos taurus CPNE4 VGNC VGNC:56215
Macaca mulatta CPNE4 VGNC VGNC:71466
Felis catus CPNE4 VGNC VGNC:61131
Canis familiaris CPNE4 VGNC VGNC:39563
Rattus norvegicus CPNE4 RGD RGD:1308844