[1]	NUCLEOTIDE SEQUENCE [GENOMIC DNA]. DOI=10.1006/geno.1996.0230; PubMed=8661014 [NCBI, ExPASy, EBI, Israel, Japan] Johnson K.R., Smith L., Johnson D.K., Rhodes J., Rinchik E.M., Thayer M., Lewis E.J.; "Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13."; Genomics 33:527-531(1996).
[2]	NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. TISSUE=Brain; DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan] The MGC Project Team; "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."; Genome Res. 14:2121-2127(2004).
[3]	VARIANT CFEOM2 VAL-72. DOI=10.1038/ng744; PubMed=11600883 [NCBI, ExPASy, EBI, Israel, Japan] Nakano M., Yamada K., Fain J., Sener E.C., Selleck C.J., Awad A.H., Zwaan J., Mullaney P.B., Bosley T.M., Engle E.C.; "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2."; Nat. Genet. 29:315-320(2001).
[4]	VARIANT GLN-256. DOI=10.1007/s00439-003-1036-z; PubMed=14566559 [NCBI, ExPASy, EBI, Israel, Japan] Sasaki A., Kanai M., Kijima K., Akaba K., Hashimoto M., Hasegawa H., Otaki S., Koizumi T., Kusuda S., Ogawa Y., Tuchiya K., Yamamoto W., Nakamura T., Hayasaka K.; "Molecular analysis of congenital central hypoventilation syndrome."; Hum. Genet. 114:22-26(2003).

Comments

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.
SUBCELLULAR LOCATION: Nucleus (By similarity).
DISEASE: Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078]. CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM2 may result from the aberrant development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei.
SIMILARITY: Belongs to the paired homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=PHOX2A";.

Copyright

Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.

Cross-references

Sequence databases

EMBL

AF022724; AAB82744.1; -; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF022722; AAB82744.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
AF022723; AAB82744.1; JOINED; Genomic_DNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]
BC041564; AAH41564.1; -; mRNA.	[EMBL / GenBank / DDBJ] [CoDingSequence]

IPI00024171; -.

NP_005160.2; -.

3D structure databases

HSSP

P06601; 1FJL. [HSSP ENTRY / PDB]

ModBase

O14813.

Organism-specific databases

GC11M071627; -.

HIX0026290; -.

HGNC:691; PHOX2A.

602078; phenotype. [NCBI / EBI]
602753; gene. [NCBI / EBI]

Orphanet

45358; Congenital fibrosis of extraocular muscles.

PharmGKB

PA28093; -.

Gene expression databases

Bgee

O14813; -.

CleanEx

HS_PHOX2A; -.

GermOnline

ENSG00000165462; Homo sapiens.

Ontologies

GO:0005634;	Cellular component: nucleus (inferred from electronic annotation from UniProtKB-SubCell).
GO:0043565;	Molecular function: sequence-specific DNA binding (inferred from electronic annotation from InterPro).
GO:0003700;	Molecular function: transcription factor activity (non-traceable author statement from ProtInc).
GO:0006355;	Biological process: regulation of transcription, DNA-dependent (inferred from electronic annotation from UniProtKB-KW).
GO:0006350;	Biological process: transcription (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.

Family and domain databases

InterPro

IPR001356; Homeobox.
IPR017970; Homeobox_CS.
IPR012287; Homeodomain-rel.
Graphical view of domain structure.

Gene3D

G3DSA:1.10.10.60; Homeodomain-rel; 1.

Pfam

PF00046; Homeobox; 1.
Pfam graphical view of domain structure.

ProDom

PD000010; Homeobox; 1.
[Domain structure / List of seq. sharing at least 1 domain]

SMART

SM00389; HOX; 1.
SMART graphical view of domain structure.

PROSITE

PS00027; HOMEOBOX_1; 1.
PS50071; HOMEOBOX_2; 1.
PROSITE graphical view of domain structure (profiles).

Proteomic databases

PRIDE

O14813; -.

Genome annotation databases

Ensembl

ENSG00000165462; Homo sapiens. [Contig view]

GeneID

401; -.

KEGG

hsa:401; -.

Phylogenomic databases

HOGENOM

O14813; -.

HOVERGEN

O14813; -.

OMA

O14813; PAPYSAX.

Other

NextBio

1681; -.

SOURCE

PHOX2A; Homo sapiens.

ProtoNet

O14813.

UniRef

View cluster of proteins with at least 50% / 90% / 100% identity.

Keywords

Activator; Disease mutation; DNA-binding; Homeobox; Nucleus; Polymorphism; Transcription; Transcription regulation.

Features

Feature table viewer

Feature aligner

`Key`	`From To`	`Length`	`Description`	`FTId`
`CHAIN`	`1 284`	`284`	`Paired mesoderm homeobox protein 2A.`	`PRO_0000049259`
`DNA_BIND`	`90 149`	`60`	`Homeobox.`
`COMPBIAS`	`193 198`	`6`	`Poly-Pro.`
`COMPBIAS`	`237 246`	`10`	`Poly-Gly.`
`VARIANT`	`72 72`	`1`	`A -> V (in CFEOM2).`	`VAR_019014`
`VARIANT`	`256 256`	`1`	`P -> Q (may be involved in congenital central hypoventilation syndrome).`	`VAR_019016`
`CONFLICT`	`76 76`		`K -> N (in Ref. 1; AAB82744).`

Sequence information

Length: 284 AA [This is the length of the unprocessed precursor]

Molecular weight: 29653 Da [This is the MW of the unprocessed precursor]

CRC64: F123D5695FB45A99 [This is a checksum on the sequence]

        10         20         30         40         50         60 
MDYSYLNSYD SCVAAMEASA YGDFGACSQP GGFQYSPLRP AFPAAGPPCP ALGSSNCALG 

        70         80         90        100        110        120 
ALRDHQPAPY SAVPYKFFPE PSGLHEKRKQ RRIRTTFTSA QLKELERVFA ETHYPDIYTR 

       130        140        150        160        170        180 
EELALKIDLT EARVQVWFQN RRAKFRKQER AASAKGAAGA AGAKKGEARC SSEDDDSKES 

       190        200        210        220        230        240 
TCSPTPDSTA SLPPPPAPGL ASPRLSPSPL PVALGSGPGP GPGPQPLKGA LWAGVAGGGG 

       250        260        270        280 
GGPGAGAAEL LKAWQPAESG PGPFSGVLSS FHRKPGPALK TNLF

O14813 in FASTA format

View entry in raw text format (no links)
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	BLAST submission on ExPASy/SIB or at NCBI (USA)		Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
	ScanProsite, MotifScan		Submit a homology modeling request to SWISS-MODEL
	NPSA Sequence analysis tools