GBX2 - gastrulation brain homeobox 2 Gene

Homo sapiens

Gene ID: 2637 | Gene type: protein coding

About GBX2

Cytogenetic location: 2q37.2 Genomic coordinates (GRCh38): 2:236,161,340-236,168,386 (from NCBI)

This gene has 3 transcripts (splice variants), 187 orthologues and 1 paralogue. Low expression observed in reference dataset.

Summary

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of nervous system development and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including branching involved in blood vessel morphogenesis; nervous system development; and neural crest cell migration. Predicted to be part of chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]

GBX2 Products(2)

mRNA	Protein	Name
NM_001301687.2	NP_001288616.1	homeobox protein GBX-2 isoform 2
NM_001485.4	NP_001476.2	homeobox protein GBX-2 isoform 1

GBX2 Protein Structure

Homeobox

0
100
200
300
348 a.a.

Protein Preferred Names

Protein Names

homeobox protein GBX-2

gastrulation and brain-specific homeobox protein 2

Related Diseases

Diseases

Alias

Developmental And Epileptic Encephalopathy 28

DEE28	Epileptic Encephalopathy, Early Infantile, 28
Eiee28	Developmental And Epileptic Encephalopathy, 28
Early Infantile Epileptic Encephalopathy 28	Encephalopathy, Epileptic, Early Infantile, Type 28

Arthrogryposis, Distal, Type 1a

Distal Arthrogryposis Type 1	Digitotalar Dysmorphism
DA1A	Da1
Amcd1	Arthrogryposis, Distal, Type 2b4
Distal Arthrogryposis Type 1a	Arthrogryposis, Distal, Type 1
Arthrogryposis Multiplex Congenita Distal Type 1	Arthrogryposis Multiplex Congenita, Distal Type 1
Arthrogryposis Multiplex Congenita, Distal, Type I	Distal Arthrogryposis Type 1b
Arthrogryposis, Distal, 1a	Amc
Arthrogryposis Multiplex Congenita	Arthrogryposis, Distal, 2b4
DA2B4	Arthrogryposis Multiplex Congenita, Distal, Type 1
Arthrogryposis

Charge Syndrome

Charge Association	Hall-Hittner Syndrome
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies	Hhs
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies	Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
CHARGES

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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-RS05315	GBX2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	GBX2	VGNC	VGNC:29276
Macaca mulatta	GBX2	VGNC	VGNC:72896
Felis catus	GBX2	VGNC	VGNC:80216
Mus musculus	GBX2	MGD	MGI:95668
Rattus norvegicus	GBX2	RGD	RGD:621866
Canis familiaris	GBX2	VGNC	VGNC:41135