This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in ... See more...

Aliases for HOXD10 Gene

Aliases for HOXD10 Gene

  • Homeobox D10 2 3 5
  • Homeobox Protein Hox-D10 3 4
  • Homeobox Protein Hox-4D 3 4
  • Homeobox Protein Hox-4E 3 4
  • Homeo Box D10 2 3
  • HOX4D 3 4
  • HOX4E 3 4
  • Homeo Box 4D 3
  • Hox-4.4 3
  • HOX4 3

External Ids for HOXD10 Gene

Previous HGNC Symbols for HOXD10 Gene

  • HOX4
  • HOX4D

Previous GeneCards Identifiers for HOXD10 Gene

  • GC02P175034
  • GC02P175642
  • GC02P176945
  • GC02P177184
  • GC02P176807
  • GC02P176689
  • GC02P168858
  • GC02P176973

Summaries for HOXD10 Gene

Entrez Gene Summary for HOXD10 Gene

  • This gene is a member of the Abd-B homeobox family and encodes a protein with a homeobox DNA-binding domain. It is included in a cluster of homeobox D genes located on chromosome 2. The encoded nuclear protein functions as a sequence-specific transcription factor that is expressed in the developing limb buds and is involved in differentiation and limb development. Mutations in this gene have been associated with Wilm's tumor and congenital vertical talus (also known as "rocker-bottom foot" deformity or congenital convex pes valgus) and/or a foot deformity resembling that seen in Charcot-Marie-Tooth disease. [provided by RefSeq, Jul 2008]

GeneCards Summary for HOXD10 Gene

HOXD10 (Homeobox D10) is a Protein Coding gene. Diseases associated with HOXD10 include Vertical Talus, Congenital and Congenital Vertical Talus, Unilateral. Among its related pathways are Proteoglycans in cancer and MicroRNAs in cancer. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and chromatin binding. An important paralog of this gene is HOXA10.

UniProtKB/Swiss-Prot Summary for HOXD10 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 HOXD10 Gene

Additional gene information for HOXD10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOXD10 Gene

Genomics for HOXD10 Gene

GeneHancer (GH) Regulatory Elements for HOXD10 Gene

Promoters and enhancers for HOXD10 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J176104 Promoter/Enhancer 1.7 EPDnew FANTOM5 Ensembl 505.8 -4.2 -4189 2 TCF12 ZIC2 ZBTB10 ZBTB26 TRIM28 KLF7 ZEB1 ZNF341 OSR2 EZH2 HOXD11 HOXD10 HSALNG0020587 HOXD13 HAGLROS HOXD9 HOXD8 HOXD3 HOXD12
GH02J176116 Promoter/Enhancer 1 EPDnew ENCODE 500.4 +7.9 7912 0.2 USF1 EZH2 CTCF SUZ12 BHLHE40 POLR2A MITF RAD21 ZBTB33 MAX HOXD10 HOXD13 HOXD-AS2 HOXD9 HSALNG0020587
GH02J176107 Promoter 0.7 Ensembl 500.7 -0.9 -889 0.6 ZBTB26 EZH2 SIN3A CBX8 RNF2 POLR2A L3MBTL2 GLIS2 SUZ12 PRDM1 HOXD10 HOXD11 HSALNG0020587
GH02J176171 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 21.9 +63.0 62968 0.9 USF1 SRSF1 YY1 RBM22 E2F6 SRSF4 CTCF SUZ12 TAF15 SIN3A HOXD3 HAGLROS HOXD9 HOXD10 HAGLR HOXD-AS2 HOXD11 HOXD8 HOXD12 HOXD13
GH02J175180 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 10.8 -927.5 -927490 2.6 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 POLR2G SP1 NCOR1 lnc-ATF2-1 lnc-SCRN3-10 piR-59456 ATF2 ATP5MC3 HOXD9 HOXD4 CHN1 HOXD10 OLA1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOXD10 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOXD10

Top Transcription factor binding sites by QIAGEN in the HOXD10 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for HOXD10 Gene

Genomic Locations for HOXD10 Gene
chr2:176,108,790-176,119,942
(GRCh38/hg38)
Size:
11,153 bases
Orientation:
Plus strand
chr2:176,973,518-176,984,670
(GRCh37/hg19)
Size:
11,153 bases
Orientation:
Plus strand

Genomic View for HOXD10 Gene

Genes around HOXD10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXD10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXD10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXD10 Gene

Proteins for HOXD10 Gene

  • Protein details for HOXD10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28358-HXD10_HUMAN
    Recommended name:
    Homeobox protein Hox-D10
    Protein Accession:
    P28358
    Secondary Accessions:
    • Q6NT10

    Protein attributes for HOXD10 Gene

    Size:
    340 amino acids
    Molecular mass:
    38411 Da
    Quaternary structure:
    No Data Available

neXtProt entry for HOXD10 Gene

Post-translational modifications for HOXD10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXD10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HOXD10 Gene

Domains & Families for HOXD10 Gene

Gene Families for HOXD10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for HOXD10 Gene

Suggested Antigen Peptide Sequences for HOXD10 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Hox-4E (HXD10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28358

UniProtKB/Swiss-Prot:

HXD10_HUMAN :
  • Belongs to the Abd-B homeobox family.
Family:
  • Belongs to the Abd-B homeobox family.
genes like me logo Genes that share domains with HOXD10: view

Function for HOXD10 Gene

Molecular function for HOXD10 Gene

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.
GENATLAS Biochemistry:
homeo box D10(4D),homologous to mouse Hox-4.5

Phenotypes From GWAS Catalog for HOXD10 Gene

Gene Ontology (GO) - Molecular Function for HOXD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
genes like me logo Genes that share ontologies with HOXD10: view
genes like me logo Genes that share phenotypes with HOXD10: view

Human Phenotype Ontology for HOXD10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HOXD10 Gene

MGI Knock Outs for HOXD10:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HOXD10 Gene

Localization for HOXD10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXD10 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HOXD10 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytoplasmic bodies (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HOXD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol IDA --
GO:0036464 cytoplasmic ribonucleoprotein granule IDA --
genes like me logo Genes that share ontologies with HOXD10: view

Pathways & Interactions for HOXD10 Gene

PathCards logo

SuperPathways for HOXD10 Gene

genes like me logo Genes that share pathways with HOXD10: view

Pathways by source for HOXD10 Gene

2 KEGG pathways for HOXD10 Gene

SIGNOR curated interactions for HOXD10 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for HOXD10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007338 single fertilization IEA --
GO:0007519 skeletal muscle tissue development IEA --
genes like me logo Genes that share ontologies with HOXD10: view

Drugs & Compounds for HOXD10 Gene

No Compound Related Data Available

Transcripts for HOXD10 Gene

mRNA/cDNA for HOXD10 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HOXD10 Gene

No ASD Table

Relevant External Links for HOXD10 Gene

GeneLoc Exon Structure for
HOXD10

Expression for HOXD10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOXD10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXD10 Gene

This gene is overexpressed in Uterus (x13.3), Vagina (x7.8), Colon - Sigmoid (x6.9), Cervix - Ectocervix (x5.5), Kidney - Cortex (x4.9), and Prostate (x4.8).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOXD10

SOURCE GeneReport for Unigene cluster for HOXD10 Gene:

Hs.123070

mRNA Expression by UniProt/SwissProt for HOXD10 Gene:

P28358-HXD10_HUMAN
Tissue specificity: Strongly expressed in the adult male and female urogenital tracts.

Evidence on tissue expression from TISSUES for HOXD10 Gene

  • Intestine(4.2)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXD10 Gene

Germ Layers:
  • mesoderm
Systems:
  • skeletal muscle
  • skeleton
Regions:
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
genes like me logo Genes that share expression patterns with HOXD10: view

No data available for Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for HOXD10 Gene

Orthologs for HOXD10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HOXD10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HOXD10 31 30
  • 99.8 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HOXD11 30
  • 98.24 (n)
HOXD10 31
  • 83 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HOXD10 31 30
  • 97.45 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hoxd10 30
  • 97.45 (n)
mouse
(Mus musculus)
Mammalia Hoxd10 17 31 30
  • 97.16 (n)
oppossum
(Monodelphis domestica)
Mammalia HOXD10 31
  • 93 (a)
OneToOne
chicken
(Gallus gallus)
Aves HOXD10 31 30
  • 87.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HOXD10 31
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hoxd10 30
  • 83.04 (n)
Str.2493 30
African clawed frog
(Xenopus laevis)
Amphibia MGC68611 30
zebrafish
(Danio rerio)
Actinopterygii hoxd10a 31 30 30
  • 70.9 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 22 (a)
OneToMany
Species where no ortholog for HOXD10 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 HOXD10 Gene

ENSEMBL:
Gene Tree for HOXD10 (if available)
TreeFam:
Gene Tree for HOXD10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOXD10: view image

Paralogs for HOXD10 Gene

(2) SIMAP similar genes for HOXD10 Gene using alignment to 1 proteins:

  • HXD10_HUMAN
genes like me logo Genes that share paralogs with HOXD10: view

Variants for HOXD10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOXD10 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
714132 Benign: not provided 176,118,976(+) A/C SYNONYMOUS_VARIANT
775790 Benign: not provided 176,118,951(+) T/C INTRON_VARIANT
808888 Uncertain Significance: not provided 176,117,125(+) G/A MISSENSE_VARIANT
811018 Benign: not specified 176,117,597(+) G/A INTRON_VARIANT
811668 Likely Benign: not specified 176,117,262(+) C/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for HOXD10 Gene

Structural Variations from Database of Genomic Variants (DGV) for HOXD10 Gene

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

Variation tolerance for HOXD10 Gene

Residual Variation Intolerance Score: 42.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.29; 25.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOXD10 Gene

Human Gene Mutation Database (HGMD)
HOXD10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXD10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HOXD10 Gene

Disorders for HOXD10 Gene

MalaCards: The human disease database

(11) MalaCards diseases for HOXD10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

HXD10_HUMAN
  • Vertical talus, congenital (CVT) [MIM:192950]: A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence. {ECO:0000269 PubMed:15146389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HOXD10

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HOXD10: view

No data available for Genatlas for HOXD10 Gene

Publications for HOXD10 Gene

  1. A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. (PMID: 15146389) Shrimpton AE … Hootnick DR (American journal of human genetics 2004) 3 4 23 54
  2. HOX4 genes encode transcription factors with potential auto- and cross-regulatory capacities. (PMID: 1756725) Zappavigna V … Duboule D (The EMBO journal 1991) 3 4 23 54
  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 LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 41 54
  4. MicroRNA-7, a homeobox D10 target, inhibits p21-activated kinase 1 and regulates its functions. (PMID: 18922890) Reddy SD … Kumar R (Cancer research 2008) 3 23 54
  5. Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus. (PMID: 17417092) Gurnett CA … Dobbs MB (Clinical orthopaedics and related research 2007) 3 41 54

Products for HOXD10 Gene

Sources for HOXD10 Gene