CLIP2 - CAP-Gly domain containing linker protein 2 Gene

Homo sapiens

Also known as CLIP; CYLN2; WSCR3; WSCR4; WBSCR3; WBSCR4; CLIP-115

Gene ID: 7461 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

CAP_GLY

0
200
400
600
800
1046 a.a.

Protein Preferred Names

Protein Names

CAP-Gly domain-containing linker protein 2

Williams-Beuren syndrome chromosome region 3

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02811	CLIP2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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

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