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 ... See more...

Aliases for HOXD8 Gene

Aliases for HOXD8 Gene

  • Homeobox D8 2 3 5
  • Homeobox Protein Hox-5.4 3 4
  • Homeobox Protein Hox-D8 3 4
  • Homeobox Protein Hox-4E 3 4
  • Homeo Box D8 2 3
  • HOX4E 3 4
  • Homeobox Protein 5.4 3
  • Homeo Box 4E 3
  • Hox-4.5 3
  • HOX5.4 3
  • HOXD8 5
  • HOX4 3

External Ids for HOXD8 Gene

Previous HGNC Symbols for HOXD8 Gene

  • HOX4
  • HOX4E

Previous GeneCards Identifiers for HOXD8 Gene

  • GC02P175047
  • GC02P175655
  • GC02P176958
  • GC02P177197
  • GC02P177195
  • GC02P176819
  • GC02P176702
  • GC02P168871
  • GC02P176994

Summaries for HOXD8 Gene

Entrez Gene Summary for HOXD8 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. In addition to effects during embryogenesis, this particular gene may also play a role in adult urogenital tract function. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Dec 2010]

CIViC Summary for HOXD8 Gene

GeneCards Summary for HOXD8 Gene

HOXD8 (Homeobox D8) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is HOXC8.

UniProtKB/Swiss-Prot Summary for HOXD8 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 HOXD8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HOXD8 Gene

Genomics for HOXD8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HOXD8 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
GH02J176128 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 258.7 +5.1 5096 13.3 EZH2 ZNF654 MYC ZNF600 IKZF1 ZNF580 CEBPA ZSCAN16 NFIC ZIC2 HOXD4 HOXD8 HOXD-AS2 HOXD3 LOC401021 HOXD1 HAGLR HOXD9 HAGLROS HOXD11
GH02J176171 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 10.9 +42.1 42064 0.9 SIN3A YY1 RBM22 ZNF792 EGR1 SP1 ZNF143 USF2 USF1 RBFOX2 HOXD3 HAGLROS HAGLR HOXD-AS2 HOXD10 HOXD11 HOXD8 HOXD12 HOXD9 HOXD13
GH02J176653 Enhancer 1 FANTOM5 Ensembl ENCODE 11.6 +524.4 524407 1 ZNF654 TRIM22 ZNF341 CTCF RAD21 SMC3 GABPB1 FOXK2 GATA2 TRIM28 HOXD3 HOXD8 HOXD-AS2 HOXD9 HOXD11 LINC01116 HSALNG0020627 HSALNG0020628 LINC01117 MTX2
GH02J176159 Enhancer 0.8 Ensembl ENCODE 11.6 +31.5 31468 3.1 GABPB1 CBX8 CBX2 BHLHE40 ELF3 PRDM4 EZH2 TARDBP USF2 AHR HAGLROS HAGLR HOXD1 HOXD-AS2 HOXD9 HOXD3 HOXD8 HOXD10 HOXD11 HOXD13
GH02J176445 Enhancer 0.8 Ensembl ENCODE 10.7 +316.9 316907 2 JUND FOXA2 FOSL2 FOXA1 SCRT1 TFAP4 NFIB JUN CEBPB FOS HOXD3 HOXD8 HOXD-AS2 HOXD4 MIR10B LINC01117 HSALNG0020612 HSALNG0020614 lnc-MTX2-6 MTX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HOXD8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HOXD8

Top Transcription factor binding sites by QIAGEN in the HOXD8 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HOXA5
  • HTF
  • Nkx2-5

Genomic Locations for HOXD8 Gene

Latest Assembly
chr2:176,129,694-176,132,695
(GRCh38/hg38)
Size:
3,002 bases
Orientation:
Plus strand

Previous Assembly
chr2:176,994,433-176,997,423
(GRCh37/hg19 by Entrez Gene)
Size:
2,991 bases
Orientation:
Plus strand

chr2:176,994,422-176,997,423
(GRCh37/hg19 by Ensembl)
Size:
3,002 bases
Orientation:
Plus strand

Genomic View for HOXD8 Gene

Genes around HOXD8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HOXD8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HOXD8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HOXD8 Gene

Proteins for HOXD8 Gene

  • Protein details for HOXD8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13378-HXD8_HUMAN
    Recommended name:
    Homeobox protein Hox-D8
    Protein Accession:
    P13378
    Secondary Accessions:
    • F8WBG7
    • Q5BL00
    • Q8IXZ1

    Protein attributes for HOXD8 Gene

    Size:
    290 amino acids
    Molecular mass:
    31911 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HOXD8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HOXD8 Gene

Post-translational modifications for HOXD8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HOXD8 Gene

No data available for DME Specific Peptides for HOXD8 Gene

Domains & Families for HOXD8 Gene

Gene Families for HOXD8 Gene

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

Protein Domains for HOXD8 Gene

InterPro:
Blocks:
  • Homeobox protein, antennapedia type

Suggested Antigen Peptide Sequences for HOXD8 Gene

GenScript: Design optimal peptide antigens:
  • Homeobox protein Hox-5.4 (HXD8_HUMAN)
  • HOXD8 protein (Q5BL00_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P13378

UniProtKB/Swiss-Prot:

HXD8_HUMAN :
  • Belongs to the Antp homeobox family.
Family:
  • Belongs to the Antp homeobox family.
genes like me logo Genes that share domains with HOXD8: view

Function for HOXD8 Gene

Molecular function for HOXD8 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 D8(4E),homologous to mouse Hox-4.3,Drosophila antp,Ubx,abd-A

Phenotypes From GWAS Catalog for HOXD8 Gene

Gene Ontology (GO) - Molecular Function for HOXD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 1756725
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IDA 1756725
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
genes like me logo Genes that share ontologies with HOXD8: view
genes like me logo Genes that share phenotypes with HOXD8: view

Animal Models for HOXD8 Gene

MGI Knock Outs for HOXD8:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXD8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HOXD8 Gene

Localization for HOXD8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HOXD8 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 HOXD8 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for HOXD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA,NAS 2568311
genes like me logo Genes that share ontologies with HOXD8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HOXD8 Gene

Pathways & Interactions for HOXD8 Gene

PathCards logo

SuperPathways for HOXD8 Gene

No Data Available

Gene Ontology (GO) - Biological Process for HOXD8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007275 multicellular organism development IEA --
GO:0008595 anterior/posterior axis specification, embryo NAS 2568311
genes like me logo Genes that share ontologies with HOXD8: view

No data available for Pathways by source and SIGNOR curated interactions for HOXD8 Gene

Drugs & Compounds for HOXD8 Gene

No Compound Related Data Available

Transcripts for HOXD8 Gene

mRNA/cDNA for HOXD8 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HOXD8

Alternative Splicing Database (ASD) splice patterns (SP) for HOXD8 Gene

ExUns: 1 ^ 2a · 2b
SP1:
SP2:

Relevant External Links for HOXD8 Gene

GeneLoc Exon Structure for
HOXD8

Expression for HOXD8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HOXD8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HOXD8 Gene

This gene is overexpressed in Kidney - Cortex (x8.0).

Protein differential expression in normal tissues from HIPED for HOXD8 Gene

This gene is overexpressed in Testis (49.1), Fetal testis (11.2), and Platelet (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HOXD8 Gene



Protein tissue co-expression partners for HOXD8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HOXD8

SOURCE GeneReport for Unigene cluster for HOXD8 Gene:

Hs.301963

Evidence on tissue expression from TISSUES for HOXD8 Gene

  • Kidney(4.5)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with HOXD8: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HOXD8 Gene

Orthologs for HOXD8 Gene

This gene was present in the common ancestor of animals.

Orthologs for HOXD8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HOXD8 29 30
  • 99.77 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia HOXD8 29 30
  • 94.61 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HOXD8 29
  • 91.91 (n)
Mouse
(Mus musculus)
Mammalia Hoxd8 29 16 30
  • 90.2 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia HOXD8 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia HOXD8 30
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HOXD8 29 30
  • 81.14 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hoxd8 29
  • 74.3 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68588 29
Fruit Fly
(Drosophila melanogaster)
Insecta Ubx 30
  • 23 (a)
ManyToMany
abd-A 30
  • 15 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea mab-5 30
  • 33 (a)
ManyToMany
lin-39 30
  • 26 (a)
ManyToMany
Species where no ortholog for HOXD8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Lizard (Anolis carolinensis)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Zebrafish (Danio rerio)

Evolution for HOXD8 Gene

ENSEMBL:
Gene Tree for HOXD8 (if available)
TreeFam:
Gene Tree for HOXD8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HOXD8: view image
Alliance of Genome Resources:
Additional Orthologs for HOXD8

Paralogs for HOXD8 Gene

Variants for HOXD8 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HOXD8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HOXD8 Gene

Variant ID Type Subtype PubMed ID
dgv676n67 CNV gain 20364138
dgv7173n54 CNV loss 21841781
nsv1122013 CNV deletion 24896259
nsv517968 CNV loss 19592680
nsv583673 CNV loss 21841781
nsv821805 CNV gain 20364138

Variation tolerance for HOXD8 Gene

Residual Variation Intolerance Score: 72.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.34; 63.20% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HOXD8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HOXD8
Leiden Open Variation Database (LOVD)
HOXD8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HOXD8 Gene

Disorders for HOXD8 Gene

Additional Disease Information for HOXD8

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for HOXD8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HOXD8 Gene

Publications for HOXD8 Gene

  1. 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 40
  2. Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot. (PMID: 19938081) Ester AR … Hecht JT (American journal of medical genetics. Part A 2009) 3 40
  3. Complete mutation analysis panel of the 39 human HOX genes. (PMID: 11857506) Kosaki K … Matsuo N (Teratology 2002) 3 4
  4. Vertebrate homeobox gene nomenclature. (PMID: 1358459) Scott MP (Cell 1992) 2 3
  5. Nomenclature for human homeobox genes. (PMID: 1973146) McAlpine PJ … Shows TB (Genomics 1990) 2 3

Products for HOXD8 Gene

Sources for HOXD8 Gene