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Protein

Homeobox protein Hox-A2

Gene

HOXA2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi143 – 202HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-9010553 Regulation of expression of SLITs and ROBOs

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
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000105996.6
HGNCiHGNC:5103 HOXA2
MIMi604685 gene
neXtProtiNX_O43364

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_048023186Q → K in MHICP. 1 PublicationCorresponds to variant dbSNP:rs119489104EnsemblClinVar.1
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

DisGeNETi3199
MalaCardsiHOXA2
MIMi612290 phenotype
OpenTargetsiENSG00000105996
Orphaneti140963 Bilateral microtia-deafness-cleft palate syndrome
83463 Microtia
PharmGKBiPA29380

Polymorphism and mutation databases

BioMutaiHOXA2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002000361 – 376Homeobox protein Hox-A2Add BLAST376

Proteomic databases

PaxDbiO43364
PeptideAtlasiO43364
PRIDEiO43364
ProteomicsDBi48911

PTM databases

iPTMnetiO43364
PhosphoSitePlusiO43364

Expressioni

Gene expression databases

BgeeiENSG00000105996 Expressed in 88 organ(s), highest expression level in amniotic fluid
CleanExiHS_HOXA2
GenevisibleiO43364 HS

Organism-specific databases

HPAiHPA078220

Interactioni

Protein-protein interaction databases

BioGridi109439, 5 interactors
STRINGi9606.ENSP00000222718

Structurei

3D structure databases

ProteinModelPortaliO43364
SMRiO43364
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi94 – 99Antp-type hexapeptide6

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0489 Eukaryota
ENOG410ZTBY LUCA
GeneTreeiENSGT00910000144005
HOGENOMiHOG000063664
HOVERGENiHBG006088
InParanoidiO43364
KOiK09302
OMAiNCGSGLN
OrthoDBiEOG091G0IJ4
PhylomeDBiO43364
TreeFamiTF317730

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001827 Homeobox_Antennapedia_CS
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00032 ANTENNAPEDIA, 1 hit
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit

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)DescriptionActionsGraphical viewLength
Natural variantiVAR_048023186Q → K in MHICP. 1 PublicationCorresponds to variant dbSNP:rs119489104EnsemblClinVar.1

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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

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
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109439, 5 interactors
STRINGi9606.ENSP00000222718

PTM databases

iPTMnetiO43364
PhosphoSitePlusiO43364

Polymorphism and mutation databases

BioMutaiHOXA2

Proteomic databases

PaxDbiO43364
PeptideAtlasiO43364
PRIDEiO43364
ProteomicsDBi48911

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000222718; ENSP00000222718; ENSG00000105996
GeneIDi3199
KEGGihsa:3199
UCSCiuc003syh.4 human

Organism-specific databases

CTDi3199
DisGeNETi3199
EuPathDBiHostDB:ENSG00000105996.6
GeneCardsiHOXA2
HGNCiHGNC:5103 HOXA2
HPAiHPA078220
MalaCardsiHOXA2
MIMi604685 gene
612290 phenotype
neXtProtiNX_O43364
OpenTargetsiENSG00000105996
Orphaneti140963 Bilateral microtia-deafness-cleft palate syndrome
83463 Microtia
PharmGKBiPA29380
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0489 Eukaryota
ENOG410ZTBY LUCA
GeneTreeiENSGT00910000144005
HOGENOMiHOG000063664
HOVERGENiHBG006088
InParanoidiO43364
KOiK09302
OMAiNCGSGLN
OrthoDBiEOG091G0IJ4
PhylomeDBiO43364
TreeFamiTF317730

Enzyme and pathway databases

ReactomeiR-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-9010553 Regulation of expression of SLITs and ROBOs

Miscellaneous databases

GeneWikiiHOXA2
GenomeRNAii3199
PROiPR:O43364
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000105996 Expressed in 88 organ(s), highest expression level in amniotic fluid
CleanExiHS_HOXA2
GenevisibleiO43364 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR001827 Homeobox_Antennapedia_CS
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR020479 Homeobox_metazoa
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PRINTSiPR00024 HOMEOBOX
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00032 ANTENNAPEDIA, 1 hit
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHXA2_HUMAN
AccessioniPrimary (citable) accession number: O43364
Secondary accession number(s): A1L4K3, B2RMW3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: June 1, 1998
Last modified: November 7, 2018
This is version 157 of the entry and version 1 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Vertebrate homeotic Hox proteins
    Nomenclature of vertebrate homeotic Hox proteins and list of entries
  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. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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