PHOX2A - paired like homeobox 2A Gene

Also Known as ARIX; FEOM2; NCAM2; PMX2A; CFEOM2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 401

About PHOX2A

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:72,239,077-72,244,176 (from NCBI)

This gene has 3 transcripts (splice variants), 190 orthologues, 50 paralogues and is associated with 3 phenotypes. Biased expression in adrenal (RPKM 6.0) and appendix (RPKM 0.4).

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]

PHOX2A Products (1)

mRNA	Protein	Name
NM_005169.4	NP_005160.2	paired mesoderm homeobox protein 2A

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	32094113	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	16280598	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	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 positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	16280598	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

PHOX2A Protein Structure

Homeobox

0
100
200
284 a.a.

Protein Preferred Names	Protein Names
paired mesoderm homeobox protein 2A	ARIX1 homeodomain protein

PHOX2A Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PHOX2A	O14813	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
Intra	PHOX2A	O14813	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
Intra	PHOX2A	O14813	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
Intra	PHOX2A	O14813	HTRA2	Homo sapiens	O43464	Validated Y2H	32814053
Intra	PHOX2A	O14813	HTRA2	Homo sapiens	O43464	Y2H Array	32814053
Intra	PHOX2A	O14813	HTRA2	Homo sapiens	O43464	Y2H Pooling	32814053
Intra	PHOX2A	O14813	PRPH	Homo sapiens	P41219	Validated Y2H	32814053
Intra	PHOX2A	O14813	PRPH	Homo sapiens	P41219	Y2H Pooling	32814053
Intra	PHOX2A	O14813	PRPH	Homo sapiens	P41219	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Fibrosis Of Extraocular Muscles, Congenital, 2	CFEOM2 Feom2 Locus Fibrosis Of Extraocular Muscles, Congenital, Autosomal Recessive Congenital Fibrosis Of The Extraocular Muscles 2 Congenital Fibrosis Of Extraocular Muscles Autosomal Recessive Exotropic Strabismus Fixus Feom2 Fibrosis, Extraocular Muscles, Congenital, Type 2
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Tukel Syndrome	Cfeom-U Congenital Fibrosis Of The Extraocular Muscles 4 Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies Fibrosis Of Extraocular Muscles, Congenital, 4 Cfeom4 Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies Congenital Fibrosis Of The Extraocular Muscles
Hypotropia
Brown Syndrome	BRWNS Superior Oblique Tendon Sheath Syndrome Tendon Sheath Adherence, Superior Oblique Brown Tendon Sheath Syndrome
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
Hypertropia
Refractive Amblyopia	Ametropic Amblyopia
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Paralytic Squint	Paralytic Strabismus Incomitant Dissociation
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
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Myotonic Cataract
Microphthalmia, Isolated 5	Isolated Microphthalmia 5 MCOP5 Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome Microphthalmia, Isolated, 5 Microphthalmia Mfrp-Related Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen Microphthalmia, Isolated, Type 5
Strabismic Amblyopia	Suppression Amblyopia Amblyopia Amblyopia, Suppression
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Marcus Gunn Phenomenon	Jaw-Winking Syndrome Marcus-Gunn Syndrome Jaw-Winking Maxillopalpebral Synkinesis Abnormal Innervation Syndrome Of Eyelid Jaw-Blinking Pterygoid-Levator Synkinesis Familial Marcus Gunn Phenomenon Marcus Gunn Syndrome Mandibulo-Palpebral Synkinesis-Ptosis Syndrome Marcus-Gunn Phenomenon
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles, Congenital, 3b CFEOM1 Blepharoptosis With Absent Eye Movements Congenital Fibrosis Of The Extraocular Muscles 1 Congenital Fibrosis Of Extraocular Muscles Type 1 Fibrosis Ophthalmoplegia, Congenital Feom1 Locus Congenital Ophthalmoplegia Feom1 CFEOM3B Fibrosis, Extraocular Muscles, Congenital, Type 1 Congenital Fibrosis Of The Extraocular Muscles
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Accommodative Esotropia	Esotropia With Accommodative Compensation
Partial Third-Nerve Palsy	Partial Third Nerve Palsy Third Nerve Palsy With Pupil Sparing Third Or Oculomotor Nerve Palsy, Partial Oculomotor Nerve Diseases Oculomotor Nerve Paralysis
Miles-Carpenter Syndrome	X-Linked Intellectual Disability, Miles-Carpenter Type Mcs Mental Retardation, X-Linked, Syndromic 4 Mental Retardation, X-Linked, With Congenital Contractures And Low Fingertip Arches Mrxs4 Miles-Carpenter X-Linked Mental Retardation Syndrome
Moebius Syndrome	Mobius Syndrome Moebius Sequence Oromandibular-Limb Hypogenesis Spectrum Congenital Facial Diplegia MBS Moebius Congenital Oculofacial Paralysis Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Congenital Ophthalmoplegia And Facial Paresis Moebius Spectrum Möbius Sequence Möbius Syndrome Mobius Ii Syndrome
Duane-Radial Ray Syndrome	Okihiro Syndrome DRRS Dr Syndrome Duane Anomaly With Radial Ray Abnormalities And Deafness Acrorenoocular Syndrome Acrorenocular Syndrome Duane Anomaly With Radial Abnormalities And Deafness Acro-Renal-Ocular Syndrome
Duane Retraction Syndrome	Stilling-Turk-Duane Syndrome Duane'S Syndrome Duane Syndrome Isolated Duane Retraction Syndrome Co-Contractive Retraction Syndrome Duane Anomaly, Isolated Ocular Retraction Syndrome Drs Durs
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Peripheral Nervous System Benign Neoplasm
Autonomic Nervous System Benign Neoplasm
Enophthalmos
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
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
Refractive Error	Refractive Errors
Amblyopia	Lazy Eye
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
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
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

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-RS10451	PHOX2A Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PHOX2A	MGD	MGI:106633
Felis catus	PHOX2A	VGNC	VGNC:68196
Macaca mulatta	PHOX2A	VGNC	VGNC:110526
Canis familiaris	PHOX2A	VGNC	VGNC:44507
Rattus norvegicus	PHOX2A	RGD	RGD:621323
Bos taurus	PHOX2A	VGNC	VGNC:32844
Others	PHOX2A	NCBI