O43364 (HXA2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Homeobox protein Hox-A2

Alternative name(s):
Homeobox protein Hox-1K

Gene names

Name:	HOXA2
Synonyms:	HOX1K

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	376 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
Subcellular location	Nucleus.
Involvement in disease	Defects in HOXA2 are a cause of microtia hearing impairment and cleft palate (MHICP) [MIM:612290]. Microtia is a congenital deformity of the outer ear and occurs in approximately one in 8'000-10'000 births. It is characterized by a small, abnormally shaped outer ear. It can be unilateral or bilateral. Syndromic forms of microtia occur in conjunction with other abnormalities. The most common associated malformations is the cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion. Defects in HOXA2 are a cause of autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment and partial cleft palate. Ref.5
Sequence similarities	Belongs to the Antp homeobox family. Proboscipedia subfamily. Contains 1 homeobox DNA-binding domain.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation
Domain	Homeobox
Ligand	DNA-binding
Molecular function	Developmental protein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	nucleus Inferred from direct assay. Source: HPA
Molecular function	sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 376	376	Homeobox protein Hox-A2		PRO_0000200036
Regions
	DNA binding	143 – 202	60	Homeobox
	Motif	94 – 99	6	Antp-type hexapeptide
Natural variations
	Natural variant	186	1	Q → K in MHICP. Ref.5		VAR_048023
	Natural variant	196	1	M → L. Corresponds to variant rs941002 [ dbSNP | Ensembl ].		VAR_011880

Sequences

	Sequence		Length	Mass (Da)
	O43364 [UniParc]. Last modified June 1, 1998. Version 1. Checksum: 78EB388FE1EEAD72	FASTA	376	41,002
	10 20 30 40 50 60 MNYEFEREIG FINSQPSLAE CLTSFPPVAD TFQSSSIKTS TLSHSTLIPP PFEQTIPSLN 70 80 90 100 110 120 PGSHPRHGAG GRPKPSPAGS RGSPVPAGAL QPPEYPWMKE KKAAKKTALL PAAAAAATAA 130 140 150 160 170 180 ATGPACLSHK ESLEIADGSG GGSRRLRTAY TNTQLLELEK EFHFNKYLCR PRRVEIAALL 190 200 210 220 230 240 DLTERQVKVW FQNRRMKHKR QTQCKENQNS EGKCKSLEDS EKVEEDEEEK TLFEQALSVS 250 260 270 280 290 300 GALLEREGYT FQQNALSQQQ APNGHNGDSQ SFPVSPLTSN EKNLKHFQHQ SPTVPNCLST 310 320 330 340 350 360 MGQNCGAGLN NDSPEALEVP SLQDFSVFST DSCLQLSDAV SPSLPGSLDS PVDISADSLD 370 FFTDTLTTID LQHLNY

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed: 12853948] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Human chromosome 7: DNA sequence and biology." Scherer S.W., Cheung J., MacDonald J.R., Osborne L.R., Nakabayashi K., Herbrick J.-A., Carson A.R., Parker-Katiraee L., Skaug J., Khaja R., Zhang J., Hudek A.K., Li M., Haddad M., Duggan G.E., Fernandez B.A., Kanematsu E., Gentles S. , Christopoulos C.C., Choufani S., Kwasnicka D., Zheng X.H., Lai Z., Nusskern D.R., Zhang Q., Gu Z., Lu F., Zeesman S., Nowaczyk M.J., Teshima I., Chitayat D., Shuman C., Weksberg R., Zackai E.H., Grebe T.A., Cox S.R., Kirkpatrick S.J., Rahman N., Friedman J.M., Heng H.H.Q., Pelicci P.G., Lo-Coco F., Belloni E., Shaffer L.G., Pober B., Morton C.C., Gusella J.F., Bruns G.A.P., Korf B.R., Quade B.J., Ligon A.H., Ferguson H., Higgins A.W., Leach N.T., Herrick S.R., Lemyre E., Farra C.G., Kim H.-G., Summers A.M., Gripp K.W., Roberts W., Szatmari P., Winsor E.J.T., Grzeschik K.-H., Teebi A., Minassian B.A., Kere J., Armengol L., Pujana M.A., Estivill X., Wilson M.D., Koop B.F., Tosi S., Moore G.E., Boright A.P., Zlotorynski E., Kerem B., Kroisel P.M., Petek E., Oscier D.G., Mould S.J., Doehner H., Doehner K., Rommens J.M., Vincent J.B., Venter J.C., Li P.W., Mural R.J., Adams M.D., Tsui L.-C. Science 300:767-772(2003) [PubMed: 12690205] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	"A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family." Alasti F., Sadeghi A., Sanati M.H., Farhadi M., Stollar E., Somers T., Van Camp G. Am. J. Hum. Genet. 82:982-991(2008) [PubMed: 18394579] [Abstract] Cited for: VARIANT MHICP LYS-186.
[6]	Erratum Alasti F., Sadeghi A., Sanati M.H., Farhadi M., Stollar E., Somers T., Van Camp G. Am. J. Hum. Genet. 83:424-424(2008)
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AC004079 Genomic DNA. Translation: AAS00375.1. CH236948 Genomic DNA. Translation: EAL24227.1. CH471073 Genomic DNA. Translation: EAW93864.1. BC130571 mRNA. Translation: AAI30572.1. BC136500 mRNA. Translation: AAI36501.1.
IPI	IPI00012049.
RefSeq	NP_006726.1. NM_006735.3.
UniGene	Hs.445239. Hs.592177.
3D structure databases
ProteinModelPortal	O43364.
SMR	O43364. Positions 145-201.
ModBase	Search...
Protein-protein interaction databases
STRING	O43364.
Proteomic databases
PRIDE	O43364.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000222718; ENSP00000222718; ENSG00000105996.
GeneID	3199.
KEGG	hsa:3199.
UCSC	uc003syh.1. human.
Organism-specific databases
CTD	3199.
GeneCards	GC07M027106.
H-InvDB	HIX0201149.
HGNC	HGNC:5103. HOXA2.
HPA	HPA029774.
MIM	604685. gene. 612290. phenotype.
neXtProt	NX_O43364.
Orphanet	93976. Anotia. 140963. Bilateral microtia - deafness - cleft palate.
PharmGKB	PA29380.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG06380.
GeneTree	ENSGT00600000084339.
HOGENOM	HBG282283.
HOVERGEN	HBG006088.
InParanoid	O43364.
OMA	NCGSGLN.
OrthoDB	EOG43TZVT.
PhylomeDB	O43364.
Gene expression databases
ArrayExpress	O43364.
Bgee	O43364.
CleanEx	HS_HOXA2.
Genevestigator	O43364.
GermOnline	ENSG00000105996. Homo sapiens.
Family and domain databases
InterPro	IPR001356. Homeobox. IPR001827. Homeobox_Antennapedia_CS. IPR017970. Homeobox_CS. IPR020479. Homeobox_eu. IPR009057. Homeodomain-like. IPR012287. Homeodomain-rel. [Graphical view]
Gene3D	G3DSA:1.10.10.60. Homeodomain-rel. 1 hit.
KO	K09302.
Pfam	PF00046. Homeobox. 1 hit. [Graphical view]
PRINTS	PR00024. HOMEOBOX.
SMART	SM00389. HOX. 1 hit. [Graphical view]
SUPFAM	SSF46689. Homeodomain_like. 1 hit.
PROSITE	PS00032. ANTENNAPEDIA. 1 hit. PS00027. HOMEOBOX_1. 1 hit. PS50071. HOMEOBOX_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	12724.
SOURCE	Search...

Entry information

Entry name

HXA2_HUMAN

Accession

Primary (citable) accession number: O43364
Secondary accession number(s): A1L4K3, B2RMW3

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	June 1, 1998
Last modified:	January 25, 2012
This is version 100 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.