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Aliases for HOXA2 Gene

Aliases for HOXA2 Gene

  • Homeobox A2 2 3 5
  • Homeobox Protein Hox-1K 3 4
  • HOX1K 3 4
  • Homeo Box A2 2
  • MCOHI 3

External Ids for HOXA2 Gene

Previous HGNC Symbols for HOXA2 Gene

  • HOX1K

Previous GeneCards Identifiers for HOXA2 Gene

  • GC07M026782
  • GC07M026881
  • GC07M026882
  • GC07M026913
  • GC07M027106
  • GC07M027020

Summaries for HOXA2 Gene

Entrez Gene Summary for HOXA2 Gene

  • In vertebrates, the genes encoding the class of transcription factors called homeobox genes are found in clusters named A, B, C, and D on four separate chromosomes. Expression of these proteins is spatially and temporally regulated during embryonic development. This gene is part of the A cluster on chromosome 7 and encodes a DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation. The encoded protein may be involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXA2 Gene

HOXA2 (Homeobox A2) is a Protein Coding gene. Diseases associated with HOXA2 include microtia, hearing impairment, and cleft palate and microtia. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Developmental Biology. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is HOXD3.

UniProtKB/Swiss-Prot for HOXA2 Gene

  • Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.

Gene Wiki entry for HOXA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXA2 Gene

Genomics for HOXA2 Gene

Regulatory Elements for HOXA2 Gene

Enhancers for HOXA2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around HOXA2 on UCSC Golden Path with GeneCards custom track

Promoters for HOXA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HOXA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXA2 Gene

Chromosome:
7
Start:
27,100,354 bp from pter
End:
27,102,811 bp from pter
Size:
2,458 bases
Orientation:
Minus strand

Genomic View for HOXA2 Gene

Genes around HOXA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXA2 Gene

Proteins for HOXA2 Gene

  • Protein details for HOXA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43364-HXA2_HUMAN
    Recommended name:
    Homeobox protein Hox-A2
    Protein Accession:
    O43364
    Secondary Accessions:
    • A1L4K3
    • B2RMW3

    Protein attributes for HOXA2 Gene

    Size:
    376 amino acids
    Molecular mass:
    41002 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXA2 Gene

Proteomics data for HOXA2 Gene at MOPED

Post-translational modifications for HOXA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXA2 Gene

Domains & Families for HOXA2 Gene

Gene Families for HOXA2 Gene

Suggested Antigen Peptide Sequences for HOXA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43364

UniProtKB/Swiss-Prot:

HXA2_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family. Proboscipedia subfamily.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Antp homeobox family. Proboscipedia subfamily.
genes like me logo Genes that share domains with HOXA2: view

Function for HOXA2 Gene

Molecular function for HOXA2 Gene

GENATLAS Biochemistry:
homeo box A2(1K),homologous to mouse Hox-1.11,Drosophila pb
UniProtKB/Swiss-Prot Function:
Sequence-specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis.
genes like me logo Genes that share phenotypes with HOXA2: view

Human Phenotype Ontology for HOXA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOXA2 Gene

MGI Knock Outs for HOXA2:

Animal Model Products

miRNA for HOXA2 Gene

miRTarBase miRNAs that target HOXA2
Targeted motifs for HOXA2 Gene
HOMER Transcription Factor Regulatory Elements motif HOXA2
  • Consensus sequence: GYCATCMATCAT Submotif: canonical Cell Type: mES

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function and Transcription Factor Targets for HOXA2 Gene

Localization for HOXA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXA2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HOXA2 Gene COMPARTMENTS Subcellular localization image for HOXA2 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for HOXA2 Gene

Pathways & Interactions for HOXA2 Gene

genes like me logo Genes that share pathways with HOXA2: view

Interacting Proteins for HOXA2 Gene

Gene Ontology (GO) - Biological Process for HOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001709 cell fate determination IEA --
GO:0002076 osteoblast development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007379 segment specification IEA --
GO:0007389 pattern specification process IEA --
genes like me logo Genes that share ontologies with HOXA2: view

No data available for SIGNOR curated interactions for HOXA2 Gene

Drugs & Compounds for HOXA2 Gene

No Compound Related Data Available

Transcripts for HOXA2 Gene

mRNA/cDNA for HOXA2 Gene

Unigene Clusters for HOXA2 Gene

Homeobox A2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HOXA2 Gene

No ASD Table

Relevant External Links for HOXA2 Gene

GeneLoc Exon Structure for
HOXA2
ECgene alternative splicing isoforms for
HOXA2

Expression for HOXA2 Gene

mRNA expression in normal human tissues for HOXA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXA2 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x4.6).

SOURCE GeneReport for Unigene cluster for HOXA2 Gene Hs.592177

genes like me logo Genes that share expression patterns with HOXA2: view

Primer Products

In Situ Assay Products

No data available for Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for HOXA2 Gene

Orthologs for HOXA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HOXA2 35
  • 95.88 (n)
  • 96.77 (a)
HOXA2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXA2 35
  • 95.72 (n)
  • 96.52 (a)
HOXA2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxa2 35
  • 93.33 (n)
  • 95.68 (a)
Hoxa2 16
Hoxa2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HOXA2 35
  • 99.91 (n)
  • 100 (a)
HOXA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911443 35
  • 93.6 (n)
  • 95.41 (a)
oppossum
(Monodelphis domestica)
Mammalia HOXA2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXA2 36
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXA2 35
  • 85.61 (n)
  • 85.79 (a)
HOXA2 36
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXA2 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxa2 35
  • 79.16 (n)
  • 82.48 (a)
Str.13271 35
African clawed frog
(Xenopus laevis)
Amphibia hoxa2b-A 35
zebrafish
(Danio rerio)
Actinopterygii hoxa2b 35
  • 73.94 (n)
  • 72.1 (a)
hoxa2b 36
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pb 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 58 (a)
OneToMany
Species with no ortholog for HOXA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOXA2 Gene

ENSEMBL:
Gene Tree for HOXA2 (if available)
TreeFam:
Gene Tree for HOXA2 (if available)

Paralogs for HOXA2 Gene

(1) SIMAP similar genes for HOXA2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HOXA2: view

Variants for HOXA2 Gene

Sequence variations from dbSNP and Humsavar for HOXA2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_011880 -
VAR_048023 Microtia, hearing impairment, and cleft palate (MHICP)
rs17427567 -- 27,104,348(+) CTTTT(C/G)CTTCC upstream-variant-2KB
rs17465344 -- 27,104,245(+) AAATA(A/T)TTTTT upstream-variant-2KB
rs17465351 -- 27,104,715(+) GACAG(A/C)TTCTA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for HOXA2 Gene

Variant ID Type Subtype PubMed ID
nsv7393 OTHER Inversion 18451855
nsv887856 CNV Loss 21882294
dgv1094n67 CNV Gain 20364138
dgv7231n71 CNV Loss 21882294
dgv7232n71 CNV Loss 21882294
dgv7233n71 CNV Loss 21882294
dgv7234n71 CNV Loss 21882294
nsv887870 CNV Loss 21882294
dgv7235n71 CNV Loss 21882294

Variation tolerance for HOXA2 Gene

Residual Variation Intolerance Score: 38.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.09% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HOXA2 Gene

HapMap Linkage Disequilibrium report
HOXA2
Human Gene Mutation Database (HGMD)
HOXA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXA2 Gene

Disorders for HOXA2 Gene

MalaCards: The human disease database

(12) MalaCards diseases for HOXA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
microtia, hearing impairment, and cleft palate
  • microtia with or without hearing impairment
microtia
bilateral microtia-deafness-cleft palate syndrome
bamforth-lazarus syndrome
  • hypothyroidism, athyroidal, with spiky hair and cleft palate
skin tag
  • cutaneous tag
- elite association - COSMIC cancer census association via MalaCards
Search HOXA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HXA2_HUMAN
  • 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. {ECO:0000269 PubMed:23775976}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:18394579}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HOXA2

Genetic Association Database (GAD)
HOXA2
Human Genome Epidemiology (HuGE) Navigator
HOXA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXA2
genes like me logo Genes that share disorders with HOXA2: view

No data available for Genatlas for HOXA2 Gene

Publications for HOXA2 Gene

  1. HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss. (PMID: 23775976) Brown K.K. … Seidman C.E. (Hum. Mutat. 2013) 3 4 67
  2. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott M.P. (Cell 1992) 2 3
  3. Molecular Analysis of the HOXA2-Dependent Degradation of RCHY1. (PMID: 26496426) Bridoux L. … Rezsohazy R. (PLoS ONE 2015) 3
  4. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R. … Iakoucheva L.M. (Nat. Commun. 2014) 3
  5. Aberrantly hypermethylated Homeobox A2 derepresses metalloproteinase-9 through TBP and promotes invasion in Nasopharyngeal carcinoma. (PMID: 24243817) Li H.P. … Chang Y.S. (Oncotarget 2013) 3

Products for HOXA2 Gene

Sources for HOXA2 Gene

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