GBX2 - gastrulation brain homeobox 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2637

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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GBX2 Protein Structure

Homeobox

Homeobox: Homeobox domain (248 - 304)

  • 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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS05315 GBX2 Human Pre-designed siRNA Set A Pre-designed Set / 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
Others GBX2 NCBI