1. Gene
  2. CLIP2 - CAP-Gly domain containing linker protein 2 Gene

CLIP2 - CAP-Gly domain containing linker protein 2 Gene

中文名称:含 CAP-Gly 结构域的接头蛋白 2

种属: Homo sapiens

同用名: CLIP; CYLN2; WSCR3; WSCR4; WBSCR3; WBSCR4; CLIP-115

基因 ID: 7461 | 基因类型: protein coding

关于 CLIP2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:74,289,407-74,405,935 (from NCBI)

This gene has 8 transcripts (splice variants), 208 orthologues, 4 paralogues and is associated with 1 phenotype. Ubiquitous expression in brain (RPKM 29.5), colon (RPKM 11.1) and 21 other tissues.

功能概要

由该基因编码的蛋白质属于细胞质连接蛋白家族,已被提议用于介导特定膜细胞器和微管之间的相互作用。发现这种蛋白质与微管和称为树突状层状体的细胞器相关。该基因在 Williams 综合征中半合子缺失,Williams 综合征是一种由 7q11.23 连续基因缺失引起的多系统发育障碍。该基因的选择性剪接产生 2 个转录本变体。[RefSeq 提供,2008 年 7 月]

The protein encoded by this gene belongs to the family of cytoplasmic linker proteins, which have been proposed to mediate the interaction between specific membranous organelles and microtubules. This protein was found to associate with both microtubules and an organelle called the dendritic lamellar body. This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]

CLIP2 基因产物(2)

mRNA Protein Name
NM_003388.5 NP_003379.4 CAP-Gly domain-containing linker protein 2 isoform 1
NM_032421.3 NP_115797.2 CAP-Gly domain-containing linker protein 2 isoform 2

CLIP2 蛋白结构

CAP_GLY

CAP_GLY: CAP-Gly domain (81 - 145)

CAP_GLY

CAP_GLY: CAP-Gly domain (221 - 285)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1046 a.a.
蛋白主名 其他名称

CAP-Gly domain-containing linker protein 2

Williams-Beuren syndrome chromosome region 3

关联疾病

疾病名称 别名
Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

Schizophrenia 1

SCZD1

Schizophrenia Susceptibility Locus, Chromosome 5-Related

Schizophrenia 1 With Or Without An Affective Disorder

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Charcot-Marie-Tooth Disease

Cmt

Hmsn

Hereditary Motor And Sensory Neuropathy

Pma

Cmt - Charcot-Marie-Tooth Disease

Charcot Marie Tooth Disease

Charcot-Marie-Tooth Hereditary Neuropathy

Charcot-Marie-Tooth Syndrome

Peroneal Muscular Atrophy

Hereditary Motor And Sensory Neuropathies

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive

Autosomal Recessive Mental Retardation

Autosomal Recessive Non-Syndromic Mental Retardation

Autosomal Recessive Non-Syndromic Intellectual Disability

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 CLIP2 MGD MGI:1313136
Bos taurus CLIP2 VGNC VGNC:27445
Rattus norvegicus CLIP2 RGD RGD:62019
Felis catus CLIP2 VGNC VGNC:60962
Canis familiaris CLIP2 VGNC VGNC:54013
Macaca mulatta CLIP2 VGNC VGNC:108392