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O43364

- HXA2_HUMAN

UniProt

O43364 - HXA2_HUMAN

Protein

Homeobox protein Hox-A2

Gene

HOXA2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Jun 1998)
      Previous versions | rss
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    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

    1. sequence-specific DNA binding Source: Ensembl
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. anterior/posterior pattern specification Source: Ensembl
    2. brain segmentation Source: Ensembl
    3. cell fate determination Source: Ensembl
    4. dorsal/ventral pattern formation Source: Ensembl
    5. embryonic viscerocranium morphogenesis Source: Ensembl
    6. middle ear morphogenesis Source: Ensembl
    7. motor neuron axon guidance Source: Ensembl
    8. negative regulation of neuron differentiation Source: Ensembl
    9. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
    10. osteoblast development Source: Ensembl
    11. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    12. rhombomere 2 development Source: Ensembl
    13. rhombomere 3 morphogenesis Source: Ensembl
    14. segment specification Source: Ensembl
    15. transcription, DNA-templated Source: UniProtKB-KW

    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: Chromosome 7

    Organism-specific databases

    HGNCiHGNC:5103. HOXA2.

    Subcellular locationi

    GO - Cellular componenti

    1. nucleus Source: HPA

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290]: A 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti186 – 1861Q → K in MHICP. 1 Publication
    VAR_048023
    Microtia with or without hearing impairment (MCRT) [MIM:612290]: 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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

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

    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. 3 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.
    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

    MNYEFEREIG FINSQPSLAE CLTSFPPVAD TFQSSSIKTS TLSHSTLIPP    50
    PFEQTIPSLN PGSHPRHGAG GRPKPSPAGS RGSPVPAGAL QPPEYPWMKE 100
    KKAAKKTALL PAAAAAATAA ATGPACLSHK ESLEIADGSG GGSRRLRTAY 150
    TNTQLLELEK EFHFNKYLCR PRRVEIAALL DLTERQVKVW FQNRRMKHKR 200
    QTQCKENQNS EGKCKSLEDS EKVEEDEEEK TLFEQALSVS GALLEREGYT 250
    FQQNALSQQQ APNGHNGDSQ SFPVSPLTSN EKNLKHFQHQ SPTVPNCLST 300
    MGQNCGAGLN NDSPEALEVP SLQDFSVFST DSCLQLSDAV SPSLPGSLDS 350
    PVDISADSLD FFTDTLTTID LQHLNY 376
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS5403.1.
    RefSeqi NP_006726.1. NM_006735.3.
    UniGenei Hs.445239.
    Hs.592177.

    3D structure databases

    ProteinModelPortali O43364.
    SMRi O43364. Positions 145-201.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 109439. 3 interactions.
    STRINGi 9606.ENSP00000222718.

    PTM databases

    PhosphoSitei O43364.

    Proteomic databases

    PaxDbi O43364.
    PRIDEi O43364.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000222718 ; ENSP00000222718 ; ENSG00000105996 .
    GeneIDi 3199.
    KEGGi hsa:3199.
    UCSCi uc003syh.3. human.

    Organism-specific databases

    CTDi 3199.
    GeneCardsi GC07M027106.
    HGNCi HGNC:5103. HOXA2.
    HPAi HPA029774.
    MIMi 604685. gene.
    612290. phenotype.
    neXtProti NX_O43364.
    Orphaneti 93976. Anotia.
    140963. Bilateral microtia - deafness - cleft palate.
    83463. Microtia.
    PharmGKBi PA29380.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG321520.
    HOGENOMi HOG000063664.
    HOVERGENi HBG006088.
    InParanoidi O43364.
    KOi K09302.
    OMAi NCGSGLN.
    OrthoDBi EOG73RBBF.
    PhylomeDBi O43364.
    TreeFami TF317730.

    Miscellaneous databases

    GeneWikii HOXA2.
    GenomeRNAii 3199.
    NextBioi 12724.
    PROi O43364.
    SOURCEi Search...

    Gene expression databases

    Bgeei O43364.
    CleanExi HS_HOXA2.
    Genevestigatori O43364.

    Family and domain databases

    Gene3Di 1.10.10.60. 1 hit.
    InterProi IPR001827. Homeobox_Antennapedia_CS.
    IPR017970. Homeobox_CS.
    IPR001356. Homeobox_dom.
    IPR020479. Homeobox_metazoa.
    IPR009057. Homeodomain-like.
    [Graphical view ]
    Pfami PF00046. Homeobox. 1 hit.
    [Graphical view ]
    PRINTSi PR00024. HOMEOBOX.
    SMARTi SM00389. HOX. 1 hit.
    [Graphical view ]
    SUPFAMi SSF46689. SSF46689. 1 hit.
    PROSITEi PS00032. ANTENNAPEDIA. 1 hit.
    PS00027. HOMEOBOX_1. 1 hit.
    PS50071. HOMEOBOX_2. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    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: October 1, 2014
    This is version 123 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