CLIP2 - CAP-Gly domain containing linker protein 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 7461

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
1000
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02716	CILP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS02811	CLIP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	CLIP2	NCBI