PHOX2A - paired like homeobox 2A Gene

Homo sapiens

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

Gene ID: 401 | Gene type: protein coding

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

PHOX2A Protein Structure

Homeobox

0
100
200
284 a.a.

Protein Preferred Names

Protein Names

paired mesoderm homeobox protein 2A

ARIX1 homeodomain protein

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10451	PHOX2A Human Pre-designed siRNA Set A		/	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