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Aliases for HOXA2 Gene

Aliases for HOXA2 Gene

  • Homeobox A2 2 3
  • Homeobox Protein Hox-1K 3 4
  • HOX1K 3 4
  • MCOHI 3 6
  • Homeobox Protein Hox-A2 3
  • Homeo Box A2 2

External Ids for HOXA2 Gene

Previous Symbols for HOXA2 Gene

  • HOX1K

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. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is EVX1.

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

Genomic Location for HOXA2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HOXA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXA2 Gene

Regulatory Elements 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

No Post-translational modifications

Other Protein References for HOXA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXA2 Gene

Domains for HOXA2 Gene

Gene Families for HOXA2 Gene

HGNC:
  • HOXL :Homeoboxes / ANTP class : HOXL subclass

UniProtKB/Swiss-Prot:

HXA2_HUMAN
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • O43364
Family:
  • Belongs to the Antp homeobox family. Proboscipedia subfamily.:
    • O43364
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

Gene Ontology (GO) - Molecular Function for HOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HOXA2: view
genes like me logo Genes that share phenotypes with HOXA2: view

Animal Models for HOXA2 Gene

MGI Knock Outs for HOXA2:

miRNA for HOXA2 Gene

miRTarBase miRNAs that target HOXA2
Targeting 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) and Transcription Factor Targeting 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

Gene Ontology (GO) - Cellular Components for HOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
genes like me logo Genes that share ontologies with HOXA2: view

Pathways for HOXA2 Gene

SuperPathways for HOXA2 Gene

No Data Available

Interacting Proteins for HOXA2 Gene

Gene Ontology (GO) - Biological Process for HOXA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0001709 cell fate determination IEA --
GO:0002076 osteoblast development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007379 segment specification IEA --
genes like me logo Genes that share ontologies with HOXA2: view

No data available for Pathways by source for HOXA2 Gene

Transcripts for HOXA2 Gene

mRNA/cDNA for HOXA2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(27) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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) (4.6).

SOURCE GeneReport for Unigene cluster for HOXA2 Gene Hs.592177

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

Orthologs for HOXA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOXA2 36
  • 99.91 (n)
  • 100 (a)
HOXA2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HOXA2 36
  • 95.88 (n)
  • 96.77 (a)
HOXA2 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXA2 36
  • 95.72 (n)
  • 96.52 (a)
HOXA2 37
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxa2 36
  • 93.33 (n)
  • 95.68 (a)
Hoxa2 16
Hoxa2 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HOXA2 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXA2 37
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100911443 36
  • 93.6 (n)
  • 95.41 (a)
chicken
(Gallus gallus)
Aves HOXA2 36
  • 85.61 (n)
  • 85.79 (a)
HOXA2 37
  • 87 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXA2 37
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia hoxa2b-A 36
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxa2 36
  • 79.16 (n)
  • 82.48 (a)
Str.13271 36
zebrafish
(Danio rerio)
Actinopterygii hoxa2b 36
  • 73.94 (n)
  • 72.1 (a)
hoxa2b 37
  • 72 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta pb 37
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 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

Selected 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 MAF
rs706016 -- 27,101,648(+) CCGTC(C/T)CCTCC intron-variant
rs941002 - 27,101,271(-) GGAGA(A/T)TGAAG frameshift-variant
rs2428431 -- 27,102,038(+) CCCCC(C/G)ACAGC intron-variant
rs2462909 -- 27,101,636(+) CCTGG(C/G)CAGAC intron-variant
rs2465278 -- 27,101,636(+) CTGGC(C/G)AGACC intron-variant

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

Relevant External Links for HOXA2 Gene

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

Disorders for HOXA2 Gene

(1) OMIM Diseases for HOXA2 Gene (604685)

UniProtKB/Swiss-Prot

HXA2_HUMAN
  • 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.
  • 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.

(2) University of Copenhagen DISEASES for HOXA2 Gene

Relevant External Links for HOXA2

Genetic Association Database (GAD)
HOXA2
Human Genome Epidemiology (HuGE) Navigator
HOXA2
genes like me logo Genes that share disorders with HOXA2: view

Publications for HOXA2 Gene

  1. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott M.P. (Cell 1992) 2 3
  2. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  3. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier L.W. … Wilson R.K. (Nature 2003) 3 4
  4. A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family. (PMID: 18394579) Alasti F. … Van Camp G. (Am. J. Hum. Genet. 2008) 3 4
  5. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges L.M. … Zmuda J.M. (J. Bone Miner. Res. 2009) 3 49

Products for HOXA2 Gene

Sources for HOXA2 Gene

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