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Aliases for HOXD3 Gene

Aliases for HOXD3 Gene

  • Homeobox D3 2 3 5
  • Homeobox Protein Hox-4A 3 4
  • Homeo Box D3 2 3
  • HOX1D 3 4
  • HOX4A 3 4
  • Hox-4.1, Mouse, Homolog Of 3
  • Hox-4.1 3
  • HOX4 3

External Ids for HOXD3 Gene

Previous HGNC Symbols for HOXD3 Gene

  • HOX4A
  • HOX4
  • HOX1D

Previous GeneCards Identifiers for HOXD3 Gene

  • GC02P175081
  • GC02P175689
  • GC02P176992
  • GC02P177231
  • GC02P176854
  • GC02P176737
  • GC02P177001
  • GC02P168905

Summaries for HOXD3 Gene

Entrez Gene Summary for HOXD3 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 at 2q31-2q37 chromosome regions. Deletions that removed the entire HOXD gene cluster or 5' end of this cluster have been associated with severe limb and genital abnormalities. The protein encoded by this gene may play a role in the regulation of cell adhesion processes. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXD3 Gene

HOXD3 (Homeobox D3) is a Protein Coding gene. Diseases associated with HOXD3 include Thyroid Hemiagenesis. Among its related pathways are Developmental Biology and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. 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 NKX1-1.

UniProtKB/Swiss-Prot for HOXD3 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 HOXD3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HOXD3 Gene

Genomics for HOXD3 Gene

Regulatory Elements for HOXD3 Gene

Enhancers for HOXD3 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 HOXD3 on UCSC Golden Path with GeneCards custom track

Promoters for HOXD3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around HOXD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for HOXD3 Gene

Chromosome:
2
Start:
176,136,612 bp from pter
End:
176,173,102 bp from pter
Size:
36,491 bases
Orientation:
Plus strand

Genomic View for HOXD3 Gene

Genes around HOXD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXD3 Gene

Proteins for HOXD3 Gene

  • Protein details for HOXD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31249-HXD3_HUMAN
    Recommended name:
    Homeobox protein Hox-D3
    Protein Accession:
    P31249
    Secondary Accessions:
    • Q99955
    • Q9BSC5

    Protein attributes for HOXD3 Gene

    Size:
    432 amino acids
    Molecular mass:
    45730 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA01891.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HOXD3 Gene

Proteomics data for HOXD3 Gene at MOPED

Post-translational modifications for HOXD3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXD3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXD3 Gene

Domains & Families for HOXD3 Gene

Gene Families for HOXD3 Gene

Suggested Antigen Peptide Sequences for HOXD3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P31249

UniProtKB/Swiss-Prot:

HXD3_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the Antp homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the Antp homeobox family.
genes like me logo Genes that share domains with HOXD3: view

Function for HOXD3 Gene

Molecular function for HOXD3 Gene

GENATLAS Biochemistry:
homeo box D3(4A),homologous to mouse Hox-4.1,Drosophila Zen
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 HOXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23088713
genes like me logo Genes that share ontologies with HOXD3: view
genes like me logo Genes that share phenotypes with HOXD3: view

Animal Models for HOXD3 Gene

MGI Knock Outs for HOXD3:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXD3 Gene

Localization for HOXD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXD3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HOXD3 Gene COMPARTMENTS Subcellular localization image for HOXD3 gene
Compartment Confidence
nucleus 5
cytosol 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for HOXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
genes like me logo Genes that share ontologies with HOXD3: view

Pathways & Interactions for HOXD3 Gene

genes like me logo Genes that share pathways with HOXD3: view

Gene Ontology (GO) - Biological Process for HOXD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007160 cell-matrix adhesion IDA 7742539
GO:0007219 Notch signaling pathway IMP 12836255
GO:0009952 anterior/posterior pattern specification ISS --
GO:0010628 positive regulation of gene expression IMP 12836255
GO:0021615 glossopharyngeal nerve morphogenesis IEA --
genes like me logo Genes that share ontologies with HOXD3: view

No data available for SIGNOR curated interactions for HOXD3 Gene

Drugs & Compounds for HOXD3 Gene

No Compound Related Data Available

Transcripts for HOXD3 Gene

Unigene Clusters for HOXD3 Gene

Homeobox D3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for HOXD3 Gene

No ASD Table

Relevant External Links for HOXD3 Gene

GeneLoc Exon Structure for
HOXD3
ECgene alternative splicing isoforms for
HOXD3

Expression for HOXD3 Gene

mRNA expression in normal human tissues for HOXD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXD3 Gene

This gene is overexpressed in Uterus (x6.8), Kidney - Cortex (x5.7), and Ovary (x4.4).

SOURCE GeneReport for Unigene cluster for HOXD3 Gene Hs.93574

genes like me logo Genes that share expression patterns with HOXD3: 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 HOXD3 Gene

Orthologs for HOXD3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HOXD3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HOXD3 35
  • 91.98 (n)
  • 95.37 (a)
HOXD3 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia HOXD3 35
  • 92.73 (n)
  • 97.45 (a)
HOXD3 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hoxd3 35
  • 90.12 (n)
  • 94.68 (a)
Hoxd3 16
Hoxd3 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HOXD3 35
  • 97.92 (n)
  • 97.67 (a)
HOXD3 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hoxd3 35
  • 90.9 (n)
  • 96.76 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia HOXD3 36
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXD3 35
  • 76.38 (n)
  • 77.91 (a)
HOXD3 36
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXD3 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxd3 35
  • 68.61 (n)
  • 69.83 (a)
zebrafish
(Danio rerio)
Actinopterygii hoxd3a 35
  • 65.74 (n)
  • 68.61 (a)
hoxd3a 36
  • 69 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 17 (a)
OneToMany
Species with no ortholog for HOXD3:
  • 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)
  • oppossum (Monodelphis domestica)
  • 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 HOXD3 Gene

ENSEMBL:
Gene Tree for HOXD3 (if available)
TreeFam:
Gene Tree for HOXD3 (if available)

Paralogs for HOXD3 Gene

(4) SIMAP similar genes for HOXD3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with HOXD3: view

Variants for HOXD3 Gene

Sequence variations from dbSNP and Humsavar for HOXD3 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_011881 -
rs711830 -- 176,172,583(-) GCCGC(A/C/G/T)GATGG utr-variant-3-prime
rs2857533 -- 176,170,801(+) GCAGG(G/T)TAGTA intron-variant
rs2857534 -- 176,170,948(+) TTTTT(G/T)GTTTG intron-variant
rs2857535 -- 176,171,483(+) CACTC(A/G)CTCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HOXD3 Gene

Variant ID Type Subtype PubMed ID
dgv676n67 CNV Gain 20364138
nsv875438 CNV Loss 21882294

Variation tolerance for HOXD3 Gene

Residual Variation Intolerance Score: 34% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.73% 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 HOXD3 Gene

Disorders for HOXD3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for HOXD3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
thyroid hemiagenesis
- elite association - COSMIC cancer census association via MalaCards
Search HOXD3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for HOXD3

Genetic Association Database (GAD)
HOXD3
Human Genome Epidemiology (HuGE) Navigator
HOXD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HOXD3
genes like me logo Genes that share disorders with HOXD3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HOXD3 Gene

Publications for HOXD3 Gene

  1. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24. (PMID: 20852632) Goode E.L. … Pharoah P.D. (Nat. Genet. 2010) 3 48 67
  2. Overexpression of the HOX4A (HOXD3) homeobox gene in human erythroleukemia HEL cells results in altered adhesive properties. (PMID: 7742539) Taniguchi Y. … Moriuchi T. (Blood 1995) 3 23
  3. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott M.P. (Cell 1992) 2 3
  4. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine P.J. … Shows T.B. (Genomics 1990) 2 3
  5. The absence of mutations in homeobox candidate genes HOXA3, HOXB3, HOXD3 and PITX2 in familial and sporadic thyroid hemiagenesis. (PMID: 24127533) Kizys M.M. … Maciel R.M. (J. Pediatr. Endocrinol. Metab. 2014) 3

Products for HOXD3 Gene

Sources for HOXD3 Gene

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