Free for academic non-profit institutions. Other users need a Commercial license

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
  • Homeobox Protein Hox-D12 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 Brachydactyly-Syndactyly Syndrome and Syndactyly, Type V. GO annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is HOXC12.

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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around HOXD12 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXD12 Gene

Chromosome:
2
Start:
176,098,513 bp from pter
End:
176,103,770 bp from pter
Size:
5,258 bases
Orientation:
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:
    P35452-HXD12_HUMAN
    Recommended name:
    Homeobox protein Hox-D12
    Protein Accession:
    P35452
    Secondary Accessions:
    • B5MCP0
    • Q0VAD7
    • Q0VAD8
    • Q9NS03

    Protein attributes for HOXD12 Gene

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

    Alternative splice isoforms for HOXD12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOXD12 Gene

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

P35452

UniProtKB/Swiss-Prot:

HXD12_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Abd-B homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • 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.

Gene Ontology (GO) - Molecular Function for HOXD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 25416956
GO:0043565 sequence-specific DNA binding IEA --
genes like me logo Genes that share ontologies with HOXD12: view
genes like me logo Genes that share phenotypes with HOXD12: view

Animal Models for HOXD12 Gene

MGI Knock Outs for HOXD12:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

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

Gene Ontology (GO) - Cellular Components for HOXD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005667 transcription factor complex IEA --
genes like me logo Genes that share ontologies with HOXD12: view

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:0001501 skeletal system development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007389 pattern specification process IEA --
GO:0042733 embryonic digit morphogenesis 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

(1) 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for HOXD12 Gene

GeneLoc Exon Structure for
HOXD12
ECgene alternative splicing isoforms for
HOXD12

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).

NURSA nuclear receptor signaling pathways regulating expression of HOXD12 Gene:

HOXD12

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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia HOXD12 34
  • 88.72 (n)
  • 90.33 (a)
HOXD12 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXD12 34
  • 88.27 (n)
  • 91.11 (a)
HOXD12 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxd12 34
  • 84.58 (n)
  • 85.07 (a)
Hoxd12 16
Hoxd12 35
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HOXD12 34
  • 99.14 (n)
  • 99.26 (a)
HOXD12 35
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hoxd12 34
  • 84.2 (n)
  • 85.45 (a)
oppossum
(Monodelphis domestica)
Mammalia HOXD12 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HOXD12 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXD12 34
  • 65.29 (n)
  • 64.66 (a)
HOXD12 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 85 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii hoxd12a 34
  • 54.65 (n)
  • 46.12 (a)
hoxd12a 35
  • 43 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 15 (a)
OneToMany
Species where no ortholog for HOXD12 was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for HOXD12 (if available)
TreeFam:
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
rs11356868 -- 176,102,162(+) CTTCT(-/C)CCCTC intron-variant
rs11411044 -- 176,103,755(+) AAAAA(-/A)GCCGA utr-variant-3-prime
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

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

Variant ID Type Subtype PubMed ID
dgv676n67 CNV gain 20364138
dgv7173n54 CNV loss 21841781
nsv517968 CNV loss 19592680
nsv520227 CNV loss 19592680
nsv524250 CNV loss 19592680
nsv527187 CNV loss 19592680
nsv583673 CNV loss 21841781

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)

Relevant External Links for HOXD12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXD12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXD12 Gene

Disorders for HOXD12 Gene

MalaCards: The human disease database

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

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

Relevant External Links for HOXD12

Genetic Association Database (GAD)
HOXD12
Human Genome Epidemiology (HuGE) Navigator
HOXD12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXD12
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 65
  2. 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 46 65
  3. 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 46 65
  4. Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. (PMID: 19938081) Ester A.R. … Hecht J.T. (Am. J. Med. Genet. A 2009) 3 46 65
  5. [Analysis of association between 5' HOXD gene and idiopathic congenital talipes equinovarus]. (PMID: 16331564) Wang L.L. … Sun K.L. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2005) 3 46 65

Products for HOXD12 Gene

Sources for HOXD12 Gene

Content