Human Gene HOXD10 (ENST00000249501.5) from GENCODE V44
  Description: Homo sapiens homeobox D10 (HOXD10), mRNA. (from RefSeq NM_002148)
RefSeq Summary (NM_002148): 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].
Gencode Transcript: ENST00000249501.5
Gencode Gene: ENSG00000128710.6
Transcript (Including UTRs)
   Position: hg38 chr2:176,116,778-176,119,937 Size: 3,160 Total Exon Count: 2 Strand: +
Coding Region
   Position: hg38 chr2:176,116,834-176,119,231 Size: 2,398 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:176,116,778-176,119,937)mRNA (may differ from genome)Protein (340 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: HXD10_HUMAN
DESCRIPTION: RecName: Full=Homeobox protein Hox-D10; AltName: Full=Homeobox protein Hox-4D; AltName: Full=Homeobox protein Hox-4E;
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.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Strongly expressed in the adult male and female urogenital tracts.
DEVELOPMENTAL STAGE: Expressed in the developing limb buds.
DISEASE: Defects in HOXD10 are a cause of congenital vertical talus (CVT) [MIM:192950]; also known as rocker-bottom foot deformity or congenital convex pes valgus. CVT is a dislocation of the talonavicular joint, with rigid dorsal dislocation of the navicular over the neck of the talus. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity.
SIMILARITY: Belongs to the Abd-B homeobox family.
SIMILARITY: Contains 1 homeobox DNA-binding domain.
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HOXD10";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: HOXD10
Diseases sorted by gene-association score: vertical talus, congenital* (1341), congenital vertical talus, unilateral* (350), congenital vertical talus, bilateral* (350), synpolydactyly (9), syndactyly, type v (9), brachydactyly-syndactyly syndrome (8), clubfoot (8), hand-foot-uterus syndrome (7), charcot-marie-tooth disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.60 RPKM in Uterus
Total median expression: 140.00 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -9.0056-0.161 Picture PostScript Text
3' UTR -188.90706-0.268 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR017970 - Homeobox_CS
IPR020479 - Homeobox_metazoa
IPR001356 - Homeodomain
IPR009057 - Homeodomain-like

Pfam Domains:
PF00046 - Homeobox domain

ModBase Predicted Comparative 3D Structure on P28358
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001501 skeletal system development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007338 single fertilization
GO:0007519 skeletal muscle tissue development
GO:0008344 adult locomotory behavior
GO:0009952 anterior/posterior pattern specification
GO:0009954 proximal/distal pattern formation
GO:0010468 regulation of gene expression
GO:0021520 spinal cord motor neuron cell fate specification
GO:0030326 embryonic limb morphogenesis
GO:0035136 forelimb morphogenesis
GO:0035137 hindlimb morphogenesis
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048704 embryonic skeletal system morphogenesis
GO:0048935 peripheral nervous system neuron development
GO:0050905 neuromuscular process

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0036464 cytoplasmic ribonucleoprotein granule


-  Descriptions from all associated GenBank mRNAs
  LF205724 - JP 2014500723-A/13227: Polycomb-Associated Non-Coding RNAs.
MA441301 - JP 2018138019-A/13227: Polycomb-Associated Non-Coding RNAs.
LF211812 - JP 2014500723-A/19315: Polycomb-Associated Non-Coding RNAs.
MA447389 - JP 2018138019-A/19315: Polycomb-Associated Non-Coding RNAs.
LF212894 - JP 2014500723-A/20397: Polycomb-Associated Non-Coding RNAs.
MA448471 - JP 2018138019-A/20397: Polycomb-Associated Non-Coding RNAs.
AK309451 - Homo sapiens cDNA, FLJ99492.
BC069619 - Homo sapiens homeobox D10, mRNA (cDNA clone MGC:97208 IMAGE:7262455), complete cds.
BC074760 - Homo sapiens homeobox D10, mRNA (cDNA clone MGC:103837 IMAGE:30915219), complete cds.
JD411076 - Sequence 392100 from Patent EP1572962.
X59373 - Human HOX4D mRNA for a homeobox protein.
KJ891386 - Synthetic construct Homo sapiens clone ccsbBroadEn_00780 HOXD10 gene, encodes complete protein.
KR711358 - Synthetic construct Homo sapiens clone CCSBHm_00023119 HOXD10 (HOXD10) mRNA, encodes complete protein.
AB464584 - Synthetic construct DNA, clone: pF1KB8960, Homo sapiens HOXD10 gene for homeobox D10, without stop codon, in Flexi system.
EU446483 - Synthetic construct Homo sapiens clone IMAGE:100070288; IMAGE:100011692; FLH257239.01L homeobox D10 (HOXD10) gene, encodes complete protein.
JD264440 - Sequence 245464 from Patent EP1572962.
JD128564 - Sequence 109588 from Patent EP1572962.
JD409438 - Sequence 390462 from Patent EP1572962.
JD500177 - Sequence 481201 from Patent EP1572962.
JD160029 - Sequence 141053 from Patent EP1572962.
JD244260 - Sequence 225284 from Patent EP1572962.
FW573309 - JP 2010529847-A/30: Oligonucleotides for modulation of target RNA activity.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000249501.1, ENST00000249501.2, ENST00000249501.3, ENST00000249501.4, HOX4D, HOX4E, HXD10_HUMAN, NM_002148, P28358, Q6NT10, uc002ukj.1, uc002ukj.2, uc002ukj.3, uc002ukj.4, uc002ukj.5
UCSC ID: ENST00000249501.5
RefSeq Accession: NM_002148
Protein: P28358 (aka HXD10_HUMAN or HXDA_HUMAN)
CCDS: CCDS2266.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.