1. Gene
  2. PBX2 - PBX homeobox 2 Gene

PBX2 - PBX homeobox 2 Gene

Homo sapiens

Also known as G17; HOX12; PBX2MHC

Gene ID: 5089 | Gene type: protein coding

About PBX2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,184,733-32,190,202 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 132 orthologues and 12 paralogues. Ubiquitous expression in placenta (RPKM 34.1), spleen (RPKM 33.9) and 25 other tissues.

Summary

This gene encodes a ubiquitously expressed member of the TALE/PBX homeobox family. It was identified by its similarity to a homeobox gene which is involved in t(1;19) translocation in acute pre-B-cell leukemias. This protein is a transcriptional activator which binds to the TLX1 promoter. The gene is located within the major histocompatibility complex (MHC) on chromosome 6. [provided by RefSeq, Jul 2008]

PBX2 Products(1)

mRNA Protein Name
NM_002586.5 NP_002577.2 pre-B-cell leukemia transcription factor 2

PBX2 Protein Structure

PBC

PBC: PBC domain (50 - 243)

Homeobox

Homeobox: Homeobox domain (245 - 304)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 430 a.a.
Protein Preferred Names Protein Names

pre-B-cell leukemia transcription factor 2

XXbac-BPG300A18.13

Related Diseases

Diseases Alias
Bare Lymphocyte Syndrome, Type I

Hla Class I Deficiency

Mhc Class I Deficiency

Bls, Type I

Bare Lymphocyte Syndrome Type I

Bare Lymphocyte Syndrome, Type I, Due To Tap2 Deficiency

Blsi

Mhc Class 1 Deficiency

Major Histocompatibility Complex Class 1 Deficiency

Bare Lymphocyte Syndrome 1

BLS1

Bls I

Bls Type I

Bl-1

Bare Lymphocyte Syndrome Type 1

Immunodeficiency By Defective Expression Of Hla - [Human Leukocyte Antigen] Class 1

Scid - [Severe Combined Immunodeficiency] Due To Absent Class 2 Hla Antigens

Bls - [Bare Lymphocyte Syndrome] Nos

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta PBX2 VGNC VGNC:75771
Mus musculus PBX2 MGD MGI:1341793
Canis familiaris PBX2 VGNC VGNC:44287
Bos taurus PBX2 VGNC VGNC:32608
Rattus norvegicus PBX2 RGD RGD:1303084
Felis catus PBX2 VGNC VGNC:68707