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Protein

Homeobox protein Hox-A2

Gene

HOXA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi143 – 20260HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Homeobox protein Hox-A2
Alternative name(s):
Homeobox protein Hox-1K
Gene namesi
Name:HOXA2
Synonyms:HOX1K
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:5103. HOXA2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Microtia, hearing impairment, and cleft palate (MHICP)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA disease characterized by microtia, mixed symmetric severe to profound hearing impairment, and partial cleft palate. Microtia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule. Syndromic forms of microtia occur in conjunction with other abnormalities including cleft palate, a congenital fissure of the soft and/or hard palate due to faulty fusion.

See also OMIM:612290
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861Q → K in MHICP. 1 Publication
VAR_048023
Microtia with or without hearing impairment (MCRT)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionMicrotia is a congenital deformity of the outer ear that is small and abnormally shaped. In classic microtia, the pinna is essentially absent, except for a vertical sausage-shaped skin remnant. The superior aspect of this sausage-shaped skin remnant consists of underlying unorganized cartilage, and the inferior aspect of this remnant consists of a relatively well-formed lobule.

See also OMIM:612290

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi612290. phenotype.
Orphaneti93976. Anotia.
140963. Bilateral microtia - deafness - cleft palate.
83463. Microtia.
PharmGKBiPA29380.

Polymorphism and mutation databases

BioMutaiHOXA2.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 376376Homeobox protein Hox-A2PRO_0000200036Add
BLAST

Proteomic databases

PaxDbiO43364.
PRIDEiO43364.

PTM databases

PhosphoSiteiO43364.

Expressioni

Gene expression databases

BgeeiO43364.
CleanExiHS_HOXA2.
GenevestigatoriO43364.

Organism-specific databases

HPAiHPA029774.

Interactioni

Protein-protein interaction databases

BioGridi109439. 5 interactions.
STRINGi9606.ENSP00000222718.

Structurei

3D structure databases

ProteinModelPortaliO43364.
SMRiO43364. Positions 145-201.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi94 – 996Antp-type hexapeptide

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG321520.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000063664.
HOVERGENiHBG006088.
InParanoidiO43364.
KOiK09302.
OMAiNCGSGLN.
OrthoDBiEOG73RBBF.
PhylomeDBiO43364.
TreeFamiTF317730.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001827. Homeobox_Antennapedia_CS.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O43364-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNYEFEREIG FINSQPSLAE CLTSFPPVAD TFQSSSIKTS TLSHSTLIPP
60 70 80 90 100
PFEQTIPSLN PGSHPRHGAG GRPKPSPAGS RGSPVPAGAL QPPEYPWMKE
110 120 130 140 150
KKAAKKTALL PAAAAAATAA ATGPACLSHK ESLEIADGSG GGSRRLRTAY
160 170 180 190 200
TNTQLLELEK EFHFNKYLCR PRRVEIAALL DLTERQVKVW FQNRRMKHKR
210 220 230 240 250
QTQCKENQNS EGKCKSLEDS EKVEEDEEEK TLFEQALSVS GALLEREGYT
260 270 280 290 300
FQQNALSQQQ APNGHNGDSQ SFPVSPLTSN EKNLKHFQHQ SPTVPNCLST
310 320 330 340 350
MGQNCGAGLN NDSPEALEVP SLQDFSVFST DSCLQLSDAV SPSLPGSLDS
360 370
PVDISADSLD FFTDTLTTID LQHLNY
Length:376
Mass (Da):41,002
Last modified:June 1, 1998 - v1
Checksum:i78EB388FE1EEAD72
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti186 – 1861Q → K in MHICP. 1 Publication
VAR_048023
Natural varianti196 – 1961M → L.
Corresponds to variant rs941002 [ dbSNP | Ensembl ].
VAR_011880

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5403.1.
RefSeqiNP_006726.1. NM_006735.3.
UniGeneiHs.445239.
Hs.592177.

Genome annotation databases

EnsembliENST00000222718; ENSP00000222718; ENSG00000105996.
GeneIDi3199.
KEGGihsa:3199.
UCSCiuc003syh.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS5403.1.
RefSeqiNP_006726.1. NM_006735.3.
UniGeneiHs.445239.
Hs.592177.

3D structure databases

ProteinModelPortaliO43364.
SMRiO43364. Positions 145-201.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109439. 5 interactions.
STRINGi9606.ENSP00000222718.

PTM databases

PhosphoSiteiO43364.

Polymorphism and mutation databases

BioMutaiHOXA2.

Proteomic databases

PaxDbiO43364.
PRIDEiO43364.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222718; ENSP00000222718; ENSG00000105996.
GeneIDi3199.
KEGGihsa:3199.
UCSCiuc003syh.3. human.

Organism-specific databases

CTDi3199.
GeneCardsiGC07M027106.
HGNCiHGNC:5103. HOXA2.
HPAiHPA029774.
MIMi604685. gene.
612290. phenotype.
neXtProtiNX_O43364.
Orphaneti93976. Anotia.
140963. Bilateral microtia - deafness - cleft palate.
83463. Microtia.
PharmGKBiPA29380.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG321520.
GeneTreeiENSGT00760000118940.
HOGENOMiHOG000063664.
HOVERGENiHBG006088.
InParanoidiO43364.
KOiK09302.
OMAiNCGSGLN.
OrthoDBiEOG73RBBF.
PhylomeDBiO43364.
TreeFamiTF317730.

Miscellaneous databases

GeneWikiiHOXA2.
GenomeRNAii3199.
NextBioi12724.
PROiO43364.
SOURCEiSearch...

Gene expression databases

BgeeiO43364.
CleanExiHS_HOXA2.
GenevestigatoriO43364.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR001827. Homeobox_Antennapedia_CS.
IPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR020479. Homeobox_metazoa.
IPR009057. Homeodomain-like.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
[Graphical view]
PRINTSiPR00024. HOMEOBOX.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00032. ANTENNAPEDIA. 1 hit.
PS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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] [Europe PMC] [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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. 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] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. Cited for: INVOLVEMENT IN MCRT.
  6. "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] [Europe PMC] [Abstract]
    Cited for: VARIANT MHICP LYS-186.
  7. 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)

Entry informationi

Entry nameiHXA2_HUMAN
AccessioniPrimary (citable) accession number: O43364
Secondary accession number(s): A1L4K3, B2RMW3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: April 29, 2015
This is version 128 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.