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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
IDA: Inferred from direct assay
19356220 GOA
enables DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
18973687 GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
12054735 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
19559479 GOA
Biological Process GO Annotation Evidence Reference Source
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
19356220 GOA
Cellular Component GO Annotation Evidence Reference Source
located in nucleus IDA
IDA: Inferred from direct assay
18973687 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

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

PBX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra PBX2 P40425 BFSP2 Homo sapiens Q13515
Validated Y2H
32296183
Intra PBX2 P40425 RIPPLY2 Homo sapiens Q5TAB7
Complementation
32296183
Intra PBX2 P40425 RIPPLY2 Homo sapiens Q5TAB7
Validated Y2H
32296183
Intra PBX2 P40425 PPFIBP1 Homo sapiens Q86W92
Validated Y2H
32296183
Intra PBX2 P40425 HOXC5 Homo sapiens Q00444
Validated Y2H
32296183
Intra PBX2 P40425 ZCWPW2 Homo sapiens Q504Y3
Validated Y2H
32296183
Intra PBX2 P40425 PKNOX1 Homo sapiens P55347
Y2H
19559479
Intra PBX2 P40425 TLX1 Homo sapiens P31314
Y2H
19559479
Intra PBX2 P40425 BLOC1S5 Homo sapiens Q8TDH9
Validated Y2H
32296183
Intra PBX2 P40425 CDCA7L Homo sapiens Q96GN5
Validated Y2H
32296183
Intra PBX2 P40425 BRMS1L Homo sapiens Q5PSV4
Validated Y2H
32296183
Intra PBX2 P40425 ZNF587 Homo sapiens Q96SQ5
Validated Y2H
32296183
Intra PBX2 P40425 FAM90A1 Homo sapiens Q86YD7
Validated Y2H
32296183
Intra PBX2 P40425 HOXA1 Homo sapiens P49639
Validated Y2H
25416956
Intra PBX2 P40425 HOXA1 Homo sapiens P49639
Y2H Prey Pooling
25416956
Intra PBX2 P40425 HOXA1 Homo sapiens P49639
Y2H Array
25416956
Intra PBX2 P40425 EFHC1 Homo sapiens Q5JVL4
Validated Y2H
32296183
Intra PBX2 P40425 CARD9 Homo sapiens Q9H257
Y2H Prey Pooling
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

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