Tissue expression of PHOX2A - Summary - The Human Protein Atlas

GENERAL INFORMATION
Gene name	PHOX2A
Gene description	Paired-like homeobox 2a
Protein class	Disease related genes Predicted intracellular proteins Transcription factors
Predicted localization	Intracellular
Number of transcripts	2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Tissue enriched (adrenal gland)
GTEx:	Tissue enhanced (adrenal gland)
FANTOM5:	Tissue enhanced (appendix)

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

Cerebral cortex

N/A

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

N/A

Thyroid gland

N/A

Parathyroid gland

N/A

Adrenal gland

N/A

Bone marrow & immune system

N/A

Appendix

N/A

Bone marrow

N/A

Lymph node

N/A

Tonsil

N/A

Spleen

N/A

Muscle tissues

N/A

Heart muscle

N/A

Skeletal muscle

N/A

Smooth muscle

N/A

Lung

N/A

Nasopharynx

N/A

Bronchus

N/A

Lung

N/A

Liver & gallbladder

N/A

Liver

N/A

Gallbladder

N/A

Pancreas

N/A

Pancreas

N/A

Gastrointestinal tract

N/A

Oral mucosa

N/A

Salivary gland

N/A

Esophagus

N/A

Stomach

N/A

Duodenum

N/A

Small intestine

N/A

Colon

N/A

Rectum

N/A

Kidney & urinary bladder

N/A

Kidney

N/A

Urinary bladder

N/A

Male tissues

N/A

Testis

N/A

Epididymis

N/A

Prostate

N/A

Seminal vesicle

N/A

Female tissues

N/A

Breast

N/A

Vagina

N/A

Cervix, uterine

N/A

Endometrium

N/A

Fallopian tube

N/A

Ovary

N/A

Placenta

N/A

Adipose & soft tissue

N/A

Adipose tissue

N/A

Soft tissue

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)
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enhanced (appendix)

GENE INFORMATION
Gene name	PHOX2A (HGNC Symbol)
Synonyms	ARIX, CFEOM2, FEOM2, PMX2A
Description	Paired-like homeobox 2a (HGNC Symbol)
Entrez gene summary	The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]
Chromosome	11
Cytoband	q13.4
Chromosome location (bp)	72239077 - 72245664
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000165462 (version 83.38)
Entrez gene	401
UniProt	O14813 (UniProt - Evidence at protein level)
neXtProt	NX_O14813
Antibodypedia	PHOX2A antibodies

PROTEIN BROWSER

PHOX2A-001	PHOX2A-002

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
PHOX2A-001 ENSP00000298231 ENST00000298231	O14813 [Direct mapping] Paired mesoderm homeobox protein 2A Show all	Predicted intracellular proteins Transcription factors Helix-turn-helix domains Disease related genes Protein evidence (Ezkurdia et al 2014) Show all	GO:0000790 [nuclear chromatin] GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding] GO:0003357 [noradrenergic neuron differentiation] GO:0003677 [DNA binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0005634 [nucleus] GO:0006351 [transcription, DNA-templated] GO:0006355 [regulation of transcription, DNA-templated] GO:0021523 [somatic motor neuron differentiation] GO:0021623 [oculomotor nerve formation] GO:0021642 [trochlear nerve formation] GO:0021703 [locus ceruleus development] GO:0030901 [midbrain development] GO:0043565 [sequence-specific DNA binding] GO:0043576 [regulation of respiratory gaseous exchange] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0048485 [sympathetic nervous system development] GO:0048486 [parasympathetic nervous system development] GO:0071542 [dopaminergic neuron differentiation] Show all	284 aa 29.7 kDa	No	0
PHOX2A-002 ENSP00000444845 ENST00000546310	H0YGU5 [Direct mapping] Paired mesoderm homeobox protein 2A Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0003677 [DNA binding] Show all	85 aa 8.7 kDa	No	0