PHOX2B - paired like homeobox 2B Gene

Also Known as CCHS; PMX2B; NBLST2; NBPhox

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 8929

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	References	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	References	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	References	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
300
314 a.a.

Protein Preferred Names	Protein Names
paired mesoderm homeobox protein 2B	PHOX2B homeodomain protein

PHOX2B Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83283	PHOX2B Antibody (YA3028)	WB, IHC-P, ICC/IF	Human, Mouse

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

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 Set	/	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
Others	PHOX2B	NCBI