Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	401
Gene name	Paired like homeobox 2A
Gene symbol	PHOX2A
Synonyms (NCBI Gene)	ARIXCFEOM2FEOM2NCAM2PMX2A
Chromosome	11
Chromosome location	11q13.4
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 tyr

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894269	G>A	Pathogenic	Missense variant, coding sequence variant
rs1178102382	C>G,T	Pathogenic	Splice acceptor variant
rs1590729541	C>T	Pathogenic	Splice donor variant

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023218	hsa-miR-122-5p	Microarray	19296470
MIRT025054	hsa-miR-181a-5p	Microarray	17612493
MIRT530891	hsa-miR-3936	PAR-CLIP	22012620
MIRT530890	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT530889	hsa-miR-3158-5p	PAR-CLIP	22012620
MIRT530888	hsa-miR-1180-5p	PAR-CLIP	22012620
MIRT530887	hsa-miR-7114-3p	PAR-CLIP	22012620
MIRT530886	hsa-miR-2467-3p	PAR-CLIP	22012620
MIRT530885	hsa-miR-7973	PAR-CLIP	22012620
MIRT530884	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT530891	hsa-miR-3936	PAR-CLIP	22012620
MIRT530890	hsa-miR-6782-5p	PAR-CLIP	22012620
MIRT530889	hsa-miR-3158-5p	PAR-CLIP	22012620
MIRT530888	hsa-miR-1180-5p	PAR-CLIP	22012620
MIRT530887	hsa-miR-7114-3p	PAR-CLIP	22012620
MIRT530886	hsa-miR-2467-3p	PAR-CLIP	22012620
MIRT530885	hsa-miR-7973	PAR-CLIP	22012620
MIRT530884	hsa-miR-3678-3p	PAR-CLIP	22012620
MIRT2295579	hsa-miR-138	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
HAND2	Activation	16280598
PHOX2B	Unknown	15888479

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	16280598
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	16280598
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	32094113
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	IC	19573018
GO:0003357	Process	Noradrenergic neuron differentiation	IEA
GO:0003357	Process	Noradrenergic neuron differentiation	NAS	16280598
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	8661014
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	32094113
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0021523	Process	Somatic motor neuron differentiation	IEA
GO:0021623	Process	Oculomotor nerve formation	IEA
GO:0021642	Process	Trochlear nerve formation	IEA
GO:0021703	Process	Locus ceruleus development	IEA
GO:0030901	Process	Midbrain development	IEA
GO:0043576	Process	Regulation of respiratory gaseous exchange	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	16280598
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	19573018
GO:0048485	Process	Sympathetic nervous system development	IEA
GO:0048486	Process	Parasympathetic nervous system development	IEA
GO:0048666	Process	Neuron development	IBA
GO:0071542	Process	Dopaminergic neuron differentiation	IC	19573018
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536, 32094113
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
602753	691	ENSG00000165462

O14813

Protein name

Paired mesoderm homeobox protein 2A (ARIX1 homeodomain protein) (Aristaless homeobox protein homolog) (Paired-like homeobox 2A)

Protein function

May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00046	Homeodomain	91 → 147	Homeodomain	Domain

Sequence

MDYSYLNSYDSCVAAMEASAYGDFGACSQPGGFQYSPLRPAFPAAGPPCPALGSSNCALG
ALRDHQPAPYSAVPYKFFPEPSGLHEKRKQRRIRTTFTSAQLKELERVFAETHYPDIYTR
EELALKIDLTEARVQVWFQNRRAKFRKQERAASAKGAAGAAGAKKGEARCSSEDDDSKES
TCSPTPDSTASLPPPPAPGLASPRLSPSPLPVALGSGPGPGPGPQPLKGALWAGVAGGGG
GGPGAGAAELLKAWQPAESGPGPFSGVLSSFHRKPGPALKTNLF

Sequence length

284

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Fibrosis of extraocular muscles, congenital, 2	Pathogenic	rs1590729541, rs1178102382	RCV000007240 RCV000007241	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHOX2A-related disorder	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (30)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blepharoptosis	Ptosis	BEFREE	11960793		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28767682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28767682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fibrosis of extraocular muscles	Congenital fibrosis of extraocular muscles	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	BEFREE	11600883, 11882252, 11960793, 14597037, 15223798, 16815872, 18214786, 19896199, 24940936		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
congenital fibrosis of the extraocular muscles	Congenital fibrosis of extraocular muscles	Pubtator	15747768, 31541710	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Fibrosis of the Extraocular Muscles	Congenital fibrosis of extraocular muscles	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	LHGDN	11889467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	BEFREE	11960793, 14597037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis Of Extraocular Muscles, Congenital, 1	Fibrosis Of Extraocular Muscles	BEFREE	9683611		★★★★★ ★☆☆☆☆ Found in Text Mining only
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	Fibrosis Of Extraocular Muscles	UNIPROT_DG	11600883		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	Fibrosis Of Extraocular Muscles	BEFREE	11882252, 11960793, 14597037		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	Fibrosis Of Extraocular Muscles	GENOMICS_ENGLAND_DG	22311481		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	Fibrosis Of Extraocular Muscles	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2	Fibrosis Of Extraocular Muscles	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT	Fibrosis Of Extraocular Muscles	BEFREE	12324876		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	17584765		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotropia	Hypotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28767682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	LHGDN	11889467		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	16815872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18949361, 19212675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18949361, 20957039, 26902400		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20957039, 26902400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	11960793		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	24940936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	BEFREE	14709596, 16815872		★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	24940936	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	28767682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PHOX2A (paired like homeobox 2A)