PHOX2B - paired like homeobox 2B Gene

Homo sapiens

Also known as CCHS; PMX2B; NBLST2; NBPhox

Gene ID: 8929 | Gene type: protein coding

About PHOX2B

Cytogenetic location: 4p13 Genomic coordinates (GRCh38): 4:41,744,082-41,748,725 (from NCBI)

This gene has 2 transcripts (splice variants), 195 orthologues, 50 paralogues and is associated with 68 phenotypes. Biased expression in adrenal (RPKM 4.8), small intestine (RPKM 0.5) and 3 other tissues.

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. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]

PHOX2B Products(1)

mRNA	Protein	Name
NM_003924.4	NP_003915.2	paired mesoderm homeobox protein 2B

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	16144830	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16144830	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16280598	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in autonomic nervous system development	IMP IMP: Inferred from mutant phenotype	12640453	GOA
involved in brainstem development	IEP IEP: Inferred from expression pattern	12640453	GOA
involved in enteric nervous system development	IEP IEP: Inferred from expression pattern	12640453	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16144830	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19573018	GOA
acts upstream of or within regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	32094113	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in chromatin	IDA IDA: Inferred from direct assay	16280598	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

PHOX2B Protein Structure

Homeobox

0
100
200
314 a.a.

Protein Preferred Names

Protein Names

paired mesoderm homeobox protein 2B

PHOX2B homeodomain protein

Related Diseases

Diseases

Alias

Central Hypoventilation Syndrome, Congenital, 1

Cchs	CCHS1
Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung Disease	Central Hypoventilation Syndrome, Congenital
Congenital Failure Of Autonomic Control	Autonomic Control, Congenital Failure Of
Ondine Curse, Congenital	Ondine Curse
Central Hypoventilation Syndrome, Congenital, 1, With Or Without Hirschsprung	Hypoventilation, Central, Syndrome, Congenital, Type 1
Congenital Central Hypoventilation	Sleep Apnea, Central
Central Alveolar Hypoventilation Syndrome	Cchs With Hirschsprung Disease
Congenital Central Alveolar Hypoventilation Syndrome	Sleep-Related Respiratory Failure
Hypoventilation

Neuroblastoma 2

Neuroblastoma, Susceptibility To, 2	Hirschsprung Disease-Ganglioneuroblastoma Syndrome
NBLST2	Neuroblastoma With Hirschsprung Disease
Hirschsprung Disease Ganglioneuroblastoma	Neuroblastoma, Susceptibility To, Type 2

Congenital Central Hypoventilation Syndrome

Cchs	Haddad Syndrome
Ondine Curse	Ondine Syndrome
Congenital Central Hypoventilation	Congenital Central Alveolar Hypoventilation Syndrome
Congenital Failure Of Autonomic Control	Ondine'S Curse
Primary Alveolar Hypoventilation	Ondine-Hirschsprung Disease
Central Congenital Hypoventilation Syndrome	Congenital Ondine Curse
Idiopathic Congenital Central Alveolar Hypoventilation	Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
Ondine-Hirschsprung Syndrome

Neuroblastoma

Nb	Neuroblastoma, Susceptibility To
Neuroblastomas	Central Neuroblastoma

Hirschsprung Disease 1

Hirschsprung Disease	Aganglionic Megacolon
Hscr	Hirschsprung'S Disease
Congenital Megacolon	Congenital Intestinal Aganglionosis
Colonic Aganglionosis	Hirschsprung Disease, Susceptibility To, 1
Hirschsprung Disease, Protection Against	HSCR1
Mgc	Pelvirectal Achalasia
Total Intestinal Aganglionosis	Megacolon, Aganglionic
Macrocolon	Hscr 1
Hirschsprung Disease Type 1	Hirschsprung Disease, Type 1
Congenital Dilatation Of Colon	Aganglionosis
Congenital Aganglionic Megacolon	Aganglionosis Of Colon
Bowel Aganglionosis	Colon Aganglionosis
Hirschsprung Megacolon

Central Sleep Apnea

Central Sleep Apnea Syndrome	Sleep Apnea, Central
Primary Central Sleep Apnea	Central Sleep Apnea, Primary
Central Sleep Apnoea Syndrome	Csa - [Central Sleep Apnoea]
Csas - [Central Sleep Apnoea Syndrome]	Central Sleep Apnoea Due To Substances Including Medications

Sudden Infant Death Syndrome

SIDS	Sudden Infant Death Syndrome, Susceptibility To
Cot Death	Crib Death
Sudden Death Of Nonspecific Cause In Infancy	Sudden Infant Death
Death, Sudden, Syndrome, Infant

Autonomic Nervous System Disease

Autonomic Nervous System Dysfunction	Autonomic Nervous System Disorders
Autonomic Nervous System Disorder	Autonomic Nervous System Diseases
Abnormality Of The Autonomic Nervous System

Peripheral Nervous System Benign Neoplasm

Autonomic Nervous System Benign Neoplasm

Sleep Apnea

Sleep Apnea Syndromes

Bulbar Polio

Poliomyelitis, Bulbar

Bulbar Poliomyelitis

Retinitis Pigmentosa 24

RP24	Retinitis Pigmentosa-24

Megacolon

Dilatation Of Colon

Osteogenesis Imperfecta, Type X

Osteogenesis Imperfecta Type 10	OI10
Osteogenesis Imperfecta Type X	Oi, Type X
Osteogenesis Imperfecta 10	Oi Type X
Oi-X

Exotropia

Divergent Concomitant Strabismus	Divergent Strabismus
Divergent Squint	External Strabismus
Xt - [Exotropia]

Laryngomalacia

Congenital Laryngomalacia	Congenital Laryngeal Stridor
Laryngomalacia Congenital	Floppy Epiglottis

Ganglioneuroblastoma

Melanotic Neuroectodermal Tumor

Melanotic Neuroectodermal Tumor Of Infancy	Neuroectodermal Tumor, Melanotic
Infantile Melanotic Neuroectodermal Neoplasm	Melanotic Neuroectodermal Tumour
Melanotic Neuroectodermal Tumour Of Infancy	Pigmented Neuroectodermal Tumour Of Infancy

Adrenal Neuroblastoma

Neuroblastoma Of Adrenal Gland	Adrenal Gland Neuroblastoma
Neuroblastoma Nos

Dyskinesia Of Esophagus

Esophageal Motility Disorders	Dyskinesia Of Oesophagus
Esophageal Dysmotility	Esophageal Motility Disorder
Oesophageal Dysmotility	Oesophageal Motor Disorder
Esophageal Spasm

Hyperinsulinism

Hyperinsulinemia

Autonomic Nervous System Neoplasm

Tumor Of Autonomic Nervous System

Mowat-Wilson Syndrome

MOWS	Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease
Hirschsprung Disease-Mental Retardation Syndrome	Mowat-Wilson Syndrome Due To Monosomy 2q22
Hirschsprung Disease Mental Retardation Syndrome	Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease
Hirschsprung Disease - Intellectual Disability Syndrome	Hirschsprung Disease Intellectual Disability Syndrome
Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease	Mws
Hirschsprung Disease-Intellectual Disability Syndrome	Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion
Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)	Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22
Mowat-Wilson Syndrome Due To 2q22 Microdeletion	Mowat-Wilson Syndrome Due To Del(2)Q(22)
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Peripheral Nervous System Neoplasm

Peripheral Nervous System Neoplasms	Nerve Sheath Neoplasm
Neoplasm Of Peripheral Nerve	Tumor Of Pns
Nerve Sheath Neoplasms	Nerve Sheath Tumors

Differentiating Neuroblastoma

Ectodermal Dysplasia 14, Hair/Tooth Type With Or Without Hypohidrosis

ECTD14	Ectodermal Dysplasia 14
Ectn14

Lung Disease

Lung Diseases	Disorder Of Lung
Abnormality Of The Lung

Physical Disorder

Physical Illness

Hand-Foot-Genital Syndrome

Hand-Foot-Uterus Syndrome	Hfgs
Hfg Syndrome	Hfu Syndrome
HFG	Hfu
Hand Foot Uterus Syndrome	Hand Foot Genital Syndrome

Peripheral Nervous System Disease

Peripheral Neuropathy	Peripheral Nerve Disease
Peripheral Nerve Disorders	Neuropathy, Peripheral
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Inflammatory Bowel Disease

Inflammatory Bowel Diseases

Bowel Disease, Inflammatory

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10452	PHOX2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PHOX2B	VGNC	VGNC:44508
Bos taurus	PHOX2B	VGNC	VGNC:32845
Macaca mulatta	PHOX2B	VGNC	VGNC:107191
Mus musculus	PHOX2B	MGD	MGI:1100882
Felis catus	PHOX2B	VGNC	VGNC:107413
Rattus norvegicus	PHOX2B	RGD	RGD:1560582