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O43364

- HXA2_HUMAN

UniProt

O43364 - HXA2_HUMAN

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Protein

Homeobox protein Hox-A2

Gene

HOXA2

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  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
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: Chromosome 7

Organism-specific databases

HGNCiHGNC:5103. HOXA2.

Subcellular locationi

GO - Cellular componenti

  1. nucleus Source: HPA
Complete GO annotation...

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. 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:
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. 5 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.
GeneTreei ENSGT00760000118940.
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

« 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: October 29, 2014
This is version 124 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