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PHOX2B

GENERAL INFORMATION

Gene name

 PHOX2B

Gene description

 Paired-like homeobox 2b

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins
Transcription factors

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enriched (adrenal gland)
GTEx:Tissue enhanced (adrenal gland, colon)
FANTOM5:Tissue enhanced (appendix, colon, small intestine)

Protein evidence

 Evidence at protein level

DATA RELIABILITY

Reliability score

 Pending normal tissue annotation.

RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
N/A
Hippocampus
N/A
N/A
Caudate
N/A
N/A
Cerebellum
N/A
N/A
Endocrine tissues
N/A
Bone marrow & immune system
N/A
Appendix
N/A
Tonsil
N/A
Spleen
N/A
Muscle tissues
N/A
Lung
N/A
Nasopharynx
N/A
N/A
Bronchus
N/A
N/A
Lung
N/A
Liver & gallbladder
N/A
Liver
N/A
Pancreas
N/A
Pancreas
N/A
Gastrointestinal tract
N/A
Oral mucosa
N/A
N/A
Esophagus
N/A
Stomach
N/A
Duodenum
N/A
Colon
N/A
Rectum
N/A
Kidney & urinary bladder
N/A
Kidney
N/A
Male tissues
N/A
Testis
N/A
Prostate
N/A
Female tissues
N/A
Breast
N/A
Vagina
N/A
N/A
Ovary
N/A
Placenta
N/A
Adipose & soft tissue
N/A
Soft tissue
N/A
N/A
Skin
N/A
Skin
N/A

PROTEIN EXPRESSION OVERVIEW
Pending normal tissue annotation.

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (adrenal gland)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (adrenal gland, colon)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (appendix, colon, small intestine)

GENE INFORMATION

Gene name

 PHOX2B (HGNC Symbol)

Synonyms

 NBPhox, Phox2b, PMX2B

Description

 Paired-like homeobox 2b (HGNC Symbol)

Entrez gene summary

 The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. [provided by RefSeq, Jul 2008]

Chromosome

 4

Cytoband

 p13

Chromosome location (bp)

 41744082 - 41748970

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000109132 (version 83.38)

Entrez gene

 8929

UniProt

 Q99453 (UniProt - Evidence at protein level)

neXtProt

 NX_Q99453

Antibodypedia

 PHOX2B antibodies

PROTEIN BROWSER
PHOX2B-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PHOX2B-001
ENSP00000226382
ENST00000226382
Q99453 [Direct mapping]
Paired mesoderm homeobox protein 2B
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   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   Helix-turn-helix domains
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Show all
GO:0000790 [nuclear chromatin]
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001764 [neuron migration]
GO:0002087 [regulation of respiratory gaseous exchange by neurological system process]
GO:0003357 [noradrenergic neuron differentiation]
GO:0003358 [noradrenergic neuron development]
GO:0003360 [brainstem development]
GO:0003677 [DNA binding]
GO:0005634 [nucleus]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0008285 [negative regulation of cell proliferation]
GO:0010001 [glial cell differentiation]
GO:0010468 [regulation of gene expression]
GO:0010971 [positive regulation of G2/M transition of mitotic cell cycle]
GO:0021533 [cell differentiation in hindbrain]
GO:0021723 [medullary reticular formation development]
GO:0021934 [hindbrain tangential cell migration]
GO:0030182 [neuron differentiation]
GO:0035914 [skeletal muscle cell differentiation]
GO:0043565 [sequence-specific DNA binding]
GO:0045665 [negative regulation of neuron differentiation]
GO:0045666 [positive regulation of neuron differentiation]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0048468 [cell development]
GO:0048483 [autonomic nervous system development]
GO:0048484 [enteric nervous system development]
GO:0048485 [sympathetic nervous system development]
GO:0048486 [parasympathetic nervous system development]
GO:0048839 [inner ear development]
GO:0048894 [efferent axon development in a lateral line nerve]
GO:0060541 [respiratory system development]
GO:0061452 [retrotrapezoid nucleus neuron differentiation]
GO:0061549 [sympathetic ganglion development]
GO:0071157 [negative regulation of cell cycle arrest]
GO:0071542 [dopaminergic neuron differentiation]
GO:0071773 [cellular response to BMP stimulus]
GO:1901166 [neural crest cell migration involved in autonomic nervous system development]
Show all
 314 aa
31.6 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.