UniProtKB - O43364 (HXA2_HUMAN)
Protein
Homeobox protein Hox-A2
Gene
HOXA2
Organism
Homo sapiens (Human)
Status
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 143 – 202 | HomeoboxPROSITE-ProRule annotationAdd BLAST | 60 |
GO - Molecular functioni
- DNA-binding transcription factor activity Source: GO_Central
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- anterior/posterior pattern specification Source: Ensembl
- brain segmentation Source: Ensembl
- cell fate determination Source: Ensembl
- cellular response to retinoic acid Source: Ensembl
- dorsal/ventral pattern formation Source: Ensembl
- embryonic viscerocranium morphogenesis Source: Ensembl
- middle ear morphogenesis Source: Ensembl
- motor neuron axon guidance Source: Ensembl
- negative regulation of neuron differentiation Source: Ensembl
- negative regulation of osteoblast differentiation Source: Ensembl
- negative regulation of transcription by RNA polymerase II Source: GO_Central
- osteoblast development Source: Ensembl
- positive regulation of transcription by RNA polymerase II Source: GO_Central
- rhombomere 2 development Source: Ensembl
- rhombomere 3 morphogenesis Source: Ensembl
- segment specification Source: Ensembl
Keywordsi
Molecular function | Developmental protein, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | O43364 |
Reactomei | R-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-A2Alternative name(s): Homeobox protein Hox-1K |
Gene namesi | Name:HOXA2 Synonyms:HOX1K |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:5103, HOXA2 |
MIMi | 604685, gene |
neXtProti | NX_O43364 |
VEuPathDBi | HostDB:ENSG00000105996.6 |
Subcellular locationi
Nucleus
Nucleus
- nuclear chromatin Source: NTNU_SB
- nucleoplasm Source: HPA
- nucleus Source: GO_Central
Other locations
- intracellular membrane-bounded organelle Source: HPA
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Microtia, hearing impairment, and cleft palate (MHICP)1 Publication
The disease is caused by variants 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048023 | 186 | Q → K in MHICP. 1 PublicationCorresponds to variant dbSNP:rs119489104EnsemblClinVar. | 1 |
Microtia with or without hearing impairment (MCRT)1 Publication
The disease is caused by variants 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.
Related information in OMIMKeywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 3199 |
MalaCardsi | HOXA2 |
MIMi | 612290, phenotype |
OpenTargetsi | ENSG00000105996 |
Orphaneti | 140963, Bilateral microtia-deafness-cleft palate syndrome 83463, Microtia |
PharmGKBi | PA29380 |
Miscellaneous databases
Pharosi | O43364, Tbio |
Genetic variation databases
BioMutai | HOXA2 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000200036 | 1 – 376 | Homeobox protein Hox-A2Add BLAST | 376 |
Proteomic databases
jPOSTi | O43364 |
MassIVEi | O43364 |
PaxDbi | O43364 |
PeptideAtlasi | O43364 |
PRIDEi | O43364 |
ProteomicsDBi | 48911 |
PTM databases
iPTMneti | O43364 |
PhosphoSitePlusi | O43364 |
Expressioni
Gene expression databases
Bgeei | ENSG00000105996, Expressed in amniotic fluid and 104 other tissues |
Genevisiblei | O43364, HS |
Organism-specific databases
HPAi | ENSG00000105996, Tissue enhanced (brain) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 109439, 5 interactors |
IntActi | O43364, 2 interactors |
STRINGi | 9606.ENSP00000222718 |
Miscellaneous databases
RNActi | O43364, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 94 – 99 | Antp-type hexapeptide | 6 |
Sequence similaritiesi
Keywords - Domaini
HomeoboxPhylogenomic databases
eggNOGi | KOG0489, Eukaryota |
GeneTreei | ENSGT00940000162533 |
HOGENOMi | CLU_048378_0_0_1 |
InParanoidi | O43364 |
OMAi | MGQNCGS |
OrthoDBi | 835724at2759 |
PhylomeDBi | O43364 |
TreeFami | TF317730 |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR001827, Homeobox_Antennapedia_CS IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00032, ANTENNAPEDIA, 1 hit PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
i Sequence
Sequence statusi: Complete.
O43364-1 [UniParc]FASTAAdd to basket
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
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_048023 | 186 | Q → 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 |
CCDSi | CCDS5403.1 |
RefSeqi | NP_006726.1, NM_006735.3 |
Genome annotation databases
Ensembli | ENST00000222718; ENSP00000222718; ENSG00000105996 |
GeneIDi | 3199 |
KEGGi | hsa:3199 |
UCSCi | uc003syh.4, human |
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 |
CCDSi | CCDS5403.1 |
RefSeqi | NP_006726.1, NM_006735.3 |
3D structure databases
SMRi | O43364 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 109439, 5 interactors |
IntActi | O43364, 2 interactors |
STRINGi | 9606.ENSP00000222718 |
PTM databases
iPTMneti | O43364 |
PhosphoSitePlusi | O43364 |
Genetic variation databases
BioMutai | HOXA2 |
Proteomic databases
jPOSTi | O43364 |
MassIVEi | O43364 |
PaxDbi | O43364 |
PeptideAtlasi | O43364 |
PRIDEi | O43364 |
ProteomicsDBi | 48911 |
Protocols and materials databases
Antibodypediai | 12364, 151 antibodies |
Genome annotation databases
Ensembli | ENST00000222718; ENSP00000222718; ENSG00000105996 |
GeneIDi | 3199 |
KEGGi | hsa:3199 |
UCSCi | uc003syh.4, human |
Organism-specific databases
CTDi | 3199 |
DisGeNETi | 3199 |
GeneCardsi | HOXA2 |
HGNCi | HGNC:5103, HOXA2 |
HPAi | ENSG00000105996, Tissue enhanced (brain) |
MalaCardsi | HOXA2 |
MIMi | 604685, gene 612290, phenotype |
neXtProti | NX_O43364 |
OpenTargetsi | ENSG00000105996 |
Orphaneti | 140963, Bilateral microtia-deafness-cleft palate syndrome 83463, Microtia |
PharmGKBi | PA29380 |
VEuPathDBi | HostDB:ENSG00000105996.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0489, Eukaryota |
GeneTreei | ENSGT00940000162533 |
HOGENOMi | CLU_048378_0_0_1 |
InParanoidi | O43364 |
OMAi | MGQNCGS |
OrthoDBi | 835724at2759 |
PhylomeDBi | O43364 |
TreeFami | TF317730 |
Enzyme and pathway databases
PathwayCommonsi | O43364 |
Reactomei | R-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
BioGRID-ORCSi | 3199, 2 hits in 896 CRISPR screens |
GeneWikii | HOXA2 |
GenomeRNAii | 3199 |
Pharosi | O43364, Tbio |
PROi | PR:O43364 |
RNActi | O43364, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000105996, Expressed in amniotic fluid and 104 other tissues |
Genevisiblei | O43364, HS |
Family and domain databases
CDDi | cd00086, homeodomain, 1 hit |
InterProi | View protein in InterPro IPR009057, Homeobox-like_sf IPR001827, Homeobox_Antennapedia_CS IPR017970, Homeobox_CS IPR001356, Homeobox_dom IPR020479, Homeobox_metazoa |
Pfami | View protein in Pfam PF00046, Homeodomain, 1 hit |
PRINTSi | PR00024, HOMEOBOX |
SMARTi | View protein in SMART SM00389, HOX, 1 hit |
SUPFAMi | SSF46689, SSF46689, 1 hit |
PROSITEi | View protein in PROSITE PS00032, ANTENNAPEDIA, 1 hit PS00027, HOMEOBOX_1, 1 hit PS50071, HOMEOBOX_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HXA2_HUMAN | |
Accessioni | O43364Primary (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: | February 10, 2021 | |
This is version 174 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 7
Human chromosome 7: entries, gene names and cross-references to MIM - Vertebrate homeotic Hox proteins
Nomenclature of vertebrate homeotic Hox proteins and list of entries