HOXD10
Homeobox protein Hox-D10
Also known as: HOX4, HOX4D, HXD10_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P28358
- Gene
- HOXD10
- Ensembl
- ENSG00000128710
- Chromosome
- 2
- Canonical length
- 340 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm,Cytosol,Cytoplasmic bodies
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
340 residues, UniProt reviewed canonical sequence.
>P28358|HOXD10
1 MSFPNSSPAA NTFLVDSLIS ACRSDSFYSS SASMYMPPPS ADMGTYGMQT CGLLPSLAKR
61 EVNHQNMGMN VHPYIPQVDS WTDPNRSCRI EQPVTQQVPT CSFTTNIKEE SNCCMYSDKR
121 NKLISAEVPS YQRLVPESCP VENPEVPVPG YFRLSQTYAT GKTQEYNNSP EGSSTVMLQL
181 NPRGAAKPQL SAAQLQMEKK MNEPVSGQEP TKVSQVESPE AKGGLPEERS CLAEVSVSSP
241 EVQEKESKEE IKSDTPTSNW LTAKSGRKKR CPYTKHQTLE LEKEFLFNMY LTRERRLEIS
301 KSVNLTDRQV KIWFQNRRMK LKKMSRENRI RELTANLTFSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against HOXD10 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.67
- Highest tissue expression
- 38 nTPM
Expression across tissuesHPA
Tissue
- endometrium: 38 nTPM
- vagina: 25 nTPM
- kidney: 24 nTPM
- cervix: 21 nTPM
- colon: 18 nTPM
- smooth muscle: 17 nTPM
Single-cell type
- renal connecting tubule cells: 124 nCPM
- renal collecting duct principal cells: 96 nCPM
- distal convoluted tubule cells: 95 nCPM
- basal prostatic cells: 78 nCPM
- decidual stromal cells: 68 nCPM
- loop of henle epithelial cells: 56 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- thalamus: 0.5 nTPM
- amygdala: 0.2 nTPM
- cerebellum: 0.2 nTPM
- cerebral cortex: 0.2 nTPM
- medulla oblongata: 0.2 nTPM
- midbrain: 0.2 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about HOXD10.
Disease | AllUniProt
Conditions HOXD10 is implicated in, by any mechanism.
- Vertical talus, congenital (CVT) MIM:192950
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 102 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital vertical talus
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.76
- gnomAD pLI
- 0.06
- gnomAD missense Z
- -0.09
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- adult locomotory behavior
- anterior/posterior pattern specification
- embryonic limb morphogenesis
- embryonic skeletal system morphogenesis
- forelimb morphogenesis
- hindlimb morphogenesis
- negative regulation of cell cycle
- neuromuscular process
- peripheral nervous system neuron development
- proximal/distal pattern formation
- regulation of transcription by RNA polymerase II
- single fertilization
- skeletal muscle tissue development
- spinal cord motor neuron cell fate specification
Molecular functions
- chromatin binding
- DNA-binding transcription activator activity, RNA polymerase II-specific
- DNA-binding transcription factor activity, RNA polymerase II-specific
- RNA polymerase II cis-regulatory region sequence-specific DNA binding
- sequence-specific double-stranded DNA binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads HOXD10 as an antibody target. Whether an autoantibody or antibody against HOXD10 could matter depends on whether native HOXD10 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
HOXD10 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label HOXD10 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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