HOXA2

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
Inferred from biological aspect of ancestorⁱ
- 21873635
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

anterior/posterior pattern specification
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
brain segmentation Source: Ensembl
cell fate determination Source: Ensembl
cellular response to retinoic acid Source: Ensembl
dorsal/ventral pattern formation Source: Ensembl
embryonic skeletal system morphogenesis
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
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
Inferred from biological aspect of ancestorⁱ
- 21873635
osteoblast development Source: Ensembl
positive regulation of transcription by RNA polymerase II
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
rhombomere 2 development Source: Ensembl
rhombomere 3 morphogenesis Source: Ensembl
segment specification Source: Ensembl

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Developmental protein, DNA-binding
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

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

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-A2 Alternative name(s): Homeobox protein Hox-1K
Gene namesⁱ	Name:HOXA2 Synonyms:HOX1K
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 7

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000105996.6
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:5103 HOXA2
MIMⁱ	604685 gene
neXtProtⁱ	NX_O43364

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.

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.

Keywords - Diseaseⁱ

Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3199
MalaCards human disease database More...MalaCardsⁱ	HOXA2
MIMⁱ	612290 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000105996
Orphanetⁱ	140963 Bilateral microtia-deafness-cleft palate syndrome 83463 Microtia
PharmGKBⁱ	PA29380

Polymorphism and mutation databases

BioMutaⁱ	HOXA2

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

PaxDbⁱ	O43364
PeptideAtlas More...PeptideAtlasⁱ	O43364
PRIDEⁱ	O43364
ProteomicsDBⁱ	48911

PTM databases

iPTMnetⁱ	O43364
PhosphoSitePlusⁱ	O43364

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000105996 Expressed in 88 organ(s), highest expression level in amniotic fluid
CleanExⁱ	HS_HOXA2
Genevisibleⁱ	O43364 HS

Organism-specific databases

Human Protein Atlas More...HPAⁱ	HPA078220

HPAⁱ

HPA078220

Interactionⁱ

Protein-protein interaction databases

BioGridⁱ	109439, 5 interactors
STRINGⁱ	9606.ENSP00000222718

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	O43364
SMRⁱ	O43364
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	94 – 99	Antp-type hexapeptide		6

Sequence similaritiesⁱ

Belongs to the Antp homeobox family. Proboscipedia subfamily.Curated

Keywords - Domainⁱ

Homeobox

Phylogenomic databases

eggNOGⁱ	KOG0489 Eukaryota ENOG410ZTBY LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00910000144005
HOGENOMⁱ	HOG000063664
HOVERGENⁱ	HBG006088
InParanoidⁱ	O43364
KEGG Orthology (KO) More...KOⁱ	K09302
OMAⁱ	NCGSGLN
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0IJ4
PhylomeDBⁱ	O43364
TreeFamⁱ	TF317730

Family and domain databases

Conserved Domains Database More...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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF00046 Homeobox, 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

Sequenceⁱ

Sequence statusⁱ: Complete.

O43364-1 [UniParc]FASTA Add 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 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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS5403.1
NCBI Reference Sequences More...RefSeqⁱ	NP_006726.1, NM_006735.3
UniGeneⁱ	Hs.445239 Hs.592177

Genome annotation databases

Ensemblⁱ	ENST00000222718; ENSP00000222718; ENSG00000105996
GeneIDⁱ	3199
KEGGⁱ	hsa:3199
UCSC genome browser More...UCSCⁱ	uc003syh.4 human

Keywords - Coding sequence diversityⁱ

Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
O43364	HOXA2 isoform 1		PANTR		376	UniRef100_O43364

Protein	Similar proteins		Species	Score	Length	Source
O43364	Homeobox protein Hox-A2		MOUSE		372	UniRef90_P31245
Homeobox protein Hox-A2		CALJA		375
Homeobox protein Hox-A2		BOVIN		372
Homeobox protein (Fragment)		MUSSI		246
homeobox protein Hox-A2		Yangtze finless porpoise		409
+110

Protein	Similar proteins		Species	Score	Length	Source
O43364	Homeobox protein Hox-A2		MOUSE		372	UniRef50_P31245
Homeobox protein Hox-A2		CALJA		375
Homeobox protein Hox-A2		BOVIN		372
Homeobox protein Hox-A2		HETFR		363
Homeobox protein Hox-A2		PAPAN		377
+333

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
UniGeneⁱ	Hs.445239 Hs.592177

3D structure databases

ProteinModelPortalⁱ	O43364
SMRⁱ	O43364
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109439, 5 interactors
STRINGⁱ	9606.ENSP00000222718

PTM databases

iPTMnetⁱ	O43364
PhosphoSitePlusⁱ	O43364

Polymorphism and mutation databases

BioMutaⁱ	HOXA2

BioMutaⁱ

HOXA2

Proteomic databases

PaxDbⁱ	O43364
PeptideAtlasⁱ	O43364
PRIDEⁱ	O43364
ProteomicsDBⁱ	48911

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000222718; ENSP00000222718; ENSG00000105996
GeneIDⁱ	3199
KEGGⁱ	hsa:3199
UCSCⁱ	uc003syh.4 human

Organism-specific databases

CTDⁱ	3199
DisGeNETⁱ	3199
EuPathDBⁱ	HostDB:ENSG00000105996.6
GeneCardsⁱ	HOXA2
HGNCⁱ	HGNC:5103 HOXA2
HPAⁱ	HPA078220
MalaCardsⁱ	HOXA2
MIMⁱ	604685 gene 612290 phenotype
neXtProtⁱ	NX_O43364
OpenTargetsⁱ	ENSG00000105996
Orphanetⁱ	140963 Bilateral microtia-deafness-cleft palate syndrome 83463 Microtia
PharmGKBⁱ	PA29380
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG0489 Eukaryota ENOG410ZTBY LUCA
GeneTreeⁱ	ENSGT00910000144005
HOGENOMⁱ	HOG000063664
HOVERGENⁱ	HBG006088
InParanoidⁱ	O43364
KOⁱ	K09302
OMAⁱ	NCGSGLN
OrthoDBⁱ	EOG091G0IJ4
PhylomeDBⁱ	O43364
TreeFamⁱ	TF317730

Enzyme and pathway databases

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

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

GeneWikiⁱ	HOXA2
GenomeRNAiⁱ	3199
Protein Ontology More...PROⁱ	PR:O43364
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000105996 Expressed in 88 organ(s), highest expression level in amniotic fluid
CleanExⁱ	HS_HOXA2
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 Homeobox, 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...

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:	November 7, 2018
	This is version 157 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

Complete proteome, Reference proteome

Documents

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

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UniRef

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Supporting data

UniProtKB - O43364 (HXA2_HUMAN)

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Homeobox protein Hox-A2

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Other locations

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Motif

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Natural variant

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ

Cross-referencesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ