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Aliases for HOXD12 Gene

Aliases for HOXD12 Gene

  • Homeobox D12 2 3 5
  • Homeobox Protein Hox-4H 3 4
  • Homeo Box D12 2 3
  • HOX4H 3 4
  • Hox-4.7, Mouse, Homolog Of 3

External Ids for HOXD12 Gene

Previous HGNC Symbols for HOXD12 Gene

  • HOX4H

Previous GeneCards Identifiers for HOXD12 Gene

  • GC02P175017
  • GC02P175625
  • GC02P176930
  • GC02P177168
  • GC02P177169
  • GC02P176790
  • GC02P176672
  • GC02P168842

Summaries for HOXD12 Gene

Entrez Gene Summary for HOXD12 Gene

  • This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms. Mammals possess four similar homeobox gene clusters, HOXA, HOXB, HOXC and HOXD, located on different chromosomes, consisting of 9 to 11 genes arranged in tandem. This gene is one of several homeobox HOXD genes located in a cluster on chromosome 2. Deletions that remove the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities. The exact role of this gene has not been determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXD12 Gene

HOXD12 (Homeobox D12) is a Protein Coding gene. Diseases associated with HOXD12 include Syndactyly, Type V and Brachydactyly-Syndactyly Syndrome. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXD10.

UniProtKB/Swiss-Prot for HOXD12 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 HOXD12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXD12 Gene

Genomics for HOXD12 Gene

Regulatory Elements for HOXD12 Gene

Enhancers for HOXD12 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 HOXD12 on UCSC Golden Path with GeneCards custom track

Promoters for HOXD12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HOXD12 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXD12 Gene

176,098,513 bp from pter
176,103,770 bp from pter
5,258 bases
Plus strand

Genomic View for HOXD12 Gene

Genes around HOXD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXD12 Gene

Proteins for HOXD12 Gene

  • Protein details for HOXD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Homeobox protein Hox-D12
    Protein Accession:
    Secondary Accessions:
    • B5MCP0
    • Q0VAD7
    • Q0VAD8
    • Q9NS03

    Protein attributes for HOXD12 Gene

    270 amino acids
    Molecular mass:
    29031 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HOXD12 Gene


neXtProt entry for HOXD12 Gene

Proteomics data for HOXD12 Gene at MOPED

Post-translational modifications for HOXD12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXD12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXD12 Gene

Domains & Families for HOXD12 Gene

Gene Families for HOXD12 Gene

Suggested Antigen Peptide Sequences for HOXD12 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Abd-B homeobox family.
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Abd-B homeobox family.
genes like me logo Genes that share domains with HOXD12: view

Function for HOXD12 Gene

Molecular function for HOXD12 Gene

GENATLAS Biochemistry:
homeo box D12(4H),homologous to mouse Hox-4.7,interacting with HOD13 during mouse limb development
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 HOXD12: view

Animal Models for HOXD12 Gene

MGI Knock Outs for HOXD12:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXD12 Gene

Localization for HOXD12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXD12 Gene

Subcellular locations from

Jensen Localization Image for HOXD12 Gene COMPARTMENTS Subcellular localization image for HOXD12 gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for HOXD12 Gene

Pathways & Interactions for HOXD12 Gene

SuperPathways for HOXD12 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HOXD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0007389 pattern specification process IEA --
genes like me logo Genes that share ontologies with HOXD12: view

No data available for Pathways by source and SIGNOR curated interactions for HOXD12 Gene

Drugs & Compounds for HOXD12 Gene

No Compound Related Data Available

Transcripts for HOXD12 Gene

mRNA/cDNA for HOXD12 Gene

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

Unigene Clusters for HOXD12 Gene

Homeobox D12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HOXD12 Gene

No ASD Table

Relevant External Links for HOXD12 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HOXD12 Gene

mRNA expression in normal human tissues for HOXD12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXD12 Gene

This gene is overexpressed in Vagina (x20.8), Colon - Sigmoid (x12.0), Cervix - Ectocervix (x8.0), and Prostate (x7.1).

SOURCE GeneReport for Unigene cluster for HOXD12 Gene Hs.450028

genes like me logo Genes that share expression patterns with HOXD12: view

Primer 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 HOXD12 Gene

Orthologs for HOXD12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HOXD12 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HOXD12 35
  • 88.72 (n)
  • 90.33 (a)
HOXD12 36
  • 90 (a)
(Canis familiaris)
Mammalia HOXD12 35
  • 88.27 (n)
  • 91.11 (a)
HOXD12 36
  • 91 (a)
(Mus musculus)
Mammalia Hoxd12 35
  • 84.58 (n)
  • 85.07 (a)
Hoxd12 16
Hoxd12 36
  • 87 (a)
(Pan troglodytes)
Mammalia HOXD12 35
  • 99.14 (n)
  • 99.26 (a)
HOXD12 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Hoxd12 35
  • 84.2 (n)
  • 85.45 (a)
(Monodelphis domestica)
Mammalia HOXD12 36
  • 77 (a)
(Ornithorhynchus anatinus)
Mammalia HOXD12 36
  • 70 (a)
(Gallus gallus)
Aves HOXD12 35
  • 65.29 (n)
  • 64.66 (a)
HOXD12 36
  • 66 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 85 (a)
(Danio rerio)
Actinopterygii hoxd12a 35
  • 54.65 (n)
  • 46.12 (a)
hoxd12a 36
  • 43 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 15 (a)
Species with no ortholog for HOXD12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HOXD12 Gene

Gene Tree for HOXD12 (if available)
Gene Tree for HOXD12 (if available)

Paralogs for HOXD12 Gene

(8) SIMAP similar genes for HOXD12 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with HOXD12: view

Variants for HOXD12 Gene

Sequence variations from dbSNP and Humsavar for HOXD12 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs35817516 - 176,100,358(+) CCTGC(A/G)ACCTT reference, missense
rs711812 -- 176,099,576(-) AATCA(A/C/G/T)GTTGA upstream-variant-2KB, utr-variant-5-prime
rs711813 -- 176,101,462(-) TCCAC(A/G)TATTC intron-variant
rs847150 -- 176,103,495(-) AGAAA(C/T)GGCCT utr-variant-3-prime
rs847151 -- 176,100,176(-) GGAGC(C/T)AGGCT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for HOXD12 Gene

Variant ID Type Subtype PubMed ID
nsv520227 CNV Loss 19592680
dgv676n67 CNV Gain 20364138
nsv875437 CNV Loss 21882294
nsv875438 CNV Loss 21882294
nsv527187 CNV Loss 19592680
nsv517968 CNV Loss 19592680
dgv4368n71 CNV Loss 21882294
nsv524250 CNV Loss 19592680
nsv875441 CNV Loss 21882294
nsv875442 CNV Loss 21882294
dgv4369n71 CNV Loss 21882294
nsv875446 CNV Loss 21882294
nsv875447 CNV Loss 21882294

Variation tolerance for HOXD12 Gene

Residual Variation Intolerance Score: 86.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.20% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for HOXD12 Gene

Disorders for HOXD12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HOXD12 Gene - From: GeneCards

Disorder Aliases PubMed IDs
syndactyly, type v
  • syndactyly type 5
brachydactyly-syndactyly syndrome
  • bdsd
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for HOXD12

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with HOXD12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOXD12 Gene

Publications for HOXD12 Gene

  1. EVX2, a human homeobox gene homologous to the even-skipped segmentation gene, is localized at the 5' end of HOX4 locus on chromosome 2. (PMID: 1675198) D'Esposito M. … Boncinelli E. (Genomics 1991) 2 3 4 67
  2. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine P.J. … Shows T.B. (Genomics 1990) 2 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. Study of HOXD genes in autism particularly regarding the ratio of second to fourth digit length. (PMID: 19540081) Sugie Y. … Osawa J. (Brain Dev. 2010) 3
  5. A region of the human HOXD cluster that confers polycomb-group responsiveness. (PMID: 20085705) Woo C.J. … Kingston R.E. (Cell 2010) 3

Products for HOXD12 Gene

Sources for HOXD12 Gene