CBX3 - chromobox 3 Gene

Homo sapiens

Also known as HECH; HP1-GAMMA; HP1Hs-gamma

Gene ID: 11335 | Gene type: protein coding

About CBX3

Cytogenetic location: 7p15.2 Genomic coordinates (GRCh38): 7:26,201,443-26,213,607 (from NCBI)

This gene has 8 transcripts (splice variants), 183 orthologues and 8 paralogues. Ubiquitous expression in lymph node (RPKM 47.3), testis (RPKM 43.1) and 25 other tissues.

Summary

At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane protein found in the inner nuclear membrane. The dual binding functions of the encoded protein may explain the association of heterochromatin with the inner nuclear membrane. This protein binds histone H3 tails methylated at Lys-9 sites. This protein is also recruited to sites of ultraviolet-induced DNA damage and double-strand breaks. Two transcript variants encoding the same protein but differing in the 5' UTR, have been found for this gene.[provided by RefSeq, Mar 2011]

CBX3 Products(3)

mRNA	Protein	Name
NM_001410866.1	NP_001397795.1	chromobox protein homolog 3 isoform b
NM_007276.5	NP_009207.2	chromobox protein homolog 3 isoform a
NM_016587.4	NP_057671.2	chromobox protein homolog 3 isoform a

CBX3 Protein Structure

Chromo

Chromo_shadow

0
100
183 a.a.

Protein Preferred Names

Protein Names

chromobox protein homolog 3

HP1 gamma homolog

Related Diseases

Diseases

Alias

Hutchinson-Gilford Progeria Syndrome

Progeria	HGPS
Hutchinson-Gilford Syndrome	Hutchinson-Gilford Progeria
Hutchinson Gilford Syndrome	Hutchinson Gilford Progeria Syndrome
Hutchinson-Gilford Disease	Progeria Of Childhood
Hutchinson-Gilford-Progeria Syndrome

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1	HP1
Glycolic Aciduria	Alanine-Glyoxylate Aminotransferase Deficiency
Hepatic Agt Deficiency	Oxalosis I
Primary Hyperoxaluria, Type I	Serine:Pyruvate Aminotransferase Deficiency
Hyperoxaluria, Primary, Type 1	Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency	Serine Pyruvate Aminotransferase Deficiency
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Oxalosis 1
Hyperoxaluria Primary 1	Hyperoxaluria Primary Type I
Ph1	Primary Hyperoxaluria Type I
Oxalosis Type 1	2-Oxoglutarate Glyoxylate Carboligase Deficiency

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Cornelia De Lange Syndrome

De Lange Syndrome	Brachmann De Lange Syndrome
Brachmann-De Lange Syndrome	Cdls
Bdls	Typus Degenerativus Amstelodamensis

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy	Fshd
Landouzy-Dejerine Muscular Dystrophy	Muscular Dystrophy, Facioscapulohumeral
FSHD1	Fshd1a
Muscular Dystrophy, Facioscapulohumeral, Type 1a	Facioscapulohumeral Muscular Dystrophy Type 1a
Fsh Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy 1a
Facioscapulohumeral Atrophy	Facioscapulohumeral Myopathy
Muscular Dystrophy, Facioscapulohumeral, Type 1	Facioscapulohumeral Muscular Dystrophy Type 1
Landouzy Dejerine Muscular Dystrophy	Muscular Dystrophy, Landouzy-Dejerine
Fshmd1a	Facio-Scapulo-Humeral Dystrophy
Facioscapulohumeral Type Progressive Muscular Dystrophy	Facioscapuloperoneal Muscular Dystrophy
Facioscapulohumeral Dystrophy	Fsh Dystrophy
Landouzy-Dejerine Dystrophy	Landouzy-Dejerine Myopathy
Fmd	Facioscapulohumeral Muscular Dystrophy-1a
Muscular Dystrophy Facioscapulohumeral	Dystrophy, Muscular, Facioscapulohumeral
Dystrophy, Muscular, Facioscapulohumeral, Type 1	Landouzy-Dejerine Disease
Landouzy-Déjerine Atrophy	Facioscapulohumeral Muscle Dystrophy
Fmd - [Facioscapulohumeral Muscular Dystrophy]	Fsh - [Facioscapulohumeral Muscular Dystrophy]
Fshd - [Facioscapulohumeral Muscular Dystrophy]	Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy
Landouzy-Déjérine Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 2, Digenic

Facioscapulohumeral Muscular Dystrophy 2	FSHD2
Fshd1b	Facioscapulohumeral Muscular Dystrophy 1b
Fshd2, Digenic	Muscular Dystrophy, Facioscapulohumeral, Type 2
Muscular Dystrophy, Facioscapulohumeral, Type 1b	Fascioscapulohumeral Muscular Dystrophy 2, Digenic
Facioscapulohumeral Muscular Dystrophy Type 2	Digenic Facioscapulohumeral Muscular Dystrophy
Digenic Fshd2	Facioscapulohumeral Muscular Dystrophy Type 1b
Dystrophy, Muscular, Facioscapulohumeral, Type 2

Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome	Immunodeficiency Syndrome, Variable
Ciid	Centromeric Instability, Immunodeficiency Syndrome
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16	Icf

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-RS02010	CBX3 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	CBX3	VGNC	VGNC:50017
Rattus norvegicus	CBX3	RGD	RGD:1549705
Mus musculus	CBX3	MGD	MGI:108515