COBL - cordon-bleu WH2 repeat protein Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23242

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
1200
1261 a.a.

Protein Preferred Names	Protein Names
protein cordon-bleu

COBL Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	COBL	O75128	ALAS1	Homo sapiens	P13196	Y2H Prey Pooling	32296183
Intra	COBL	O75128	ALAS1	Homo sapiens	P13196	Validated Y2H	32296183
Intra	COBL	O75128	ALAS1	Homo sapiens	P13196	Y2H Array	32296183
Intra	COBL	O75128	PACSIN1	Homo sapiens	Q9BY11	Y2H Pooling	20936779
Intra	COBL	O75128	PACSIN1	Homo sapiens	Q9BY11	Anti Tag CoIP	33961781
Intra	COBL	O75128	PACSIN2	Homo sapiens	Q9UNF0	Anti Tag CoIP	33961781
Intra	COBL	O75128	PACSIN2	Homo sapiens	Q9UNF0	Validated Y2H	32296183
Intra	COBL	O75128	PACSIN2	Homo sapiens	Q9UNF0	Y2H Array	32296183
Intra	COBL	O75128	PACSIN2	Homo sapiens	Q9UNF0	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS02947	COBL Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	COBL	NCBI