COBL - cordon-bleu WH2 repeat protein Gene

Homo sapiens

Gene ID: 23242 | Gene type: protein coding

About COBL

Cytogenetic location: 7p12.1 Genomic coordinates (GRCh38): 7:51,016,212-51,316,809 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues and 1 paralogue. Broad expression in brain (RPKM 13.9), heart (RPKM 7.3) and 18 other tissues.

Summary

This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]

COBL Products(8)

mRNA	Protein	Name
NM_001287436.3	NP_001274365.1	protein cordon-bleu isoform a
NM_001287438.3	NP_001274367.1	protein cordon-bleu isoform c
NM_001346441.2	NP_001333370.1	protein cordon-bleu isoform d
NM_001346442.2	NP_001333371.1	protein cordon-bleu isoform e
NM_001346443.2	NP_001333372.1	protein cordon-bleu isoform f
NM_001346444.2	NP_001333373.1	protein cordon-bleu isoform g
NM_001410881.1	NP_001397810.1	protein cordon-bleu isoform h
NM_015198.5	NP_056013.2	protein cordon-bleu isoform b

COBL Protein Structure

Cobl

WH2

0
200
400
600
800
1000
1261 a.a.

Protein Preferred Names

Protein Names

protein cordon-bleu

Related Diseases

Diseases

Alias

Van Maldergem Syndrome 2

VMLDS2

Hemoglobin H Disease

HBH	Hemoglobin H Disease, Nondeletional
Hemoglobin H Disease, Deletional	Alpha-Thalassemia Intermedia
Haemoglobin H Disease	Alpha-Thalassemia, Hemoglobin H Type
Hemoglobin H Disease, Deletional And Nondeletional	Alpha Thalassemia, Haemoglobin H Type
Alpha Thalassemia, Hemoglobin H Type	Haemoglobin H Disease, Deletional
Hbh Disease	Alpha-Thalassemia Hemoglobin H Type
Hemoglobin H Disease Deletional	Hemoglobin H Disease Non-Deletional
Alpha-Thalassemia	Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia
Alpha Thalassaemia Intermedia

Granulomatosis With Polyangiitis

GPA	Wegener Granulomatosis
Wegener Granulomatosis, Formerly	Midline Granulomatosis
Wg, Formerly	Necrotizing Respiratory Granulomatosis
Wg	Wegeners Granulomatosis
Pauci-Immune Glomerulonephritis Associated With Granulomatosis With Polyangiitis

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02947	COBL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COBL	MGD	MGI:105056
Bos taurus	COBL	VGNC	VGNC:106697
Macaca mulatta	COBL	VGNC	VGNC:71308
Canis familiaris	COBL	VGNC	VGNC:39445
Rattus norvegicus	COBL	RGD	RGD:1312002
Felis catus	COBL	VGNC	VGNC:78410