HOXD10 (homeobox D10)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3236
Gene name Homeobox D10
Gene symbol HOXD10
Synonyms (NCBI Gene)
HOX4HOX4DHOX4EHox-4.4
Chromosome 2
Chromosome location 2q31.1
Summary 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 transcriptio
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs104893634 T>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
154
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (154)
miRTarBase ID miRNA Experiments Reference
MIRT002021 hsa-miR-10b-5p Luciferase reporter assayWestern blot 17898713
MIRT002021 hsa-miR-10b-5p Luciferase reporter assayWestern blot 17898713
MIRT002021 hsa-miR-10b-5p Review 19935707
MIRT002021 hsa-miR-10b-5p Luciferase reporter assay 17898713
MIRT002021 hsa-miR-10b-5p Luciferase reporter assayWestern blot 21419107
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (38)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
142984 5133 ENSG00000128710
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P28358
Protein name Homeobox protein Hox-D10 (Homeobox protein Hox-4D) (Homeobox protein Hox-4E)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 267 → 323 Homeodomain Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in the adult male and female urogenital tracts.
Sequence 
MSFPNSSPAANTFLVDSLISACRSDSFYSSSASMYMPPPSADMGTYGMQTCGLLPSLAKR
EVNHQNMGMNVHPYIPQVDSWTDPNRSCRIEQPVTQQVPTCSFTTNIKEESNCCMYSDKR
NKLISAEVPSYQRLVPESCPVENPEVPVPGYFRLSQTYATGKTQEYNNSPEGSSTVMLQL
NPRGAAKPQLSAAQLQMEKKMNEPVSGQEPTKVSQVESPEAKGGLPEERSCLAEVSVSSP
EVQEKESKEEIKSDTPTSNWLTAKSGRKKRCPYTKHQTLELEKEFLFNMYLTRERRLEIS
KSVNLTDRQVKIWFQNRRMKLKKMSRENRIRELTANLTFS
Sequence length 340
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Proteoglycans in cancer
MicroRNAs in cancer 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital vertical talus Pathogenic rs104893634 RCV000016006
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HOXD10-related disorder Benign; Likely benign rs141770128, rs770477761, rs143111542, rs7604313 RCV003957713
RCV003906787
RCV003959279
RCV003946914
Show/Hide Text Mining Associations (39)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
ATR X syndrome Associate 37812190
Breast Neoplasms Associate 18922890, 20843787, 24386080, 25081374
Breast Neoplasms Male Associate 19664288
Carcinogenesis Associate 23980595, 26260613, 9773404
Carcinoma Ductal Breast Associate 25081374
Carcinoma Hepatocellular Associate 25236186, 34761603, 34911488
Carcinoma Renal Cell Inhibit 34825321
Charcot Marie Tooth Disease Associate 15146389, 16450407
Cholangiocarcinoma Associate 26260613
Colonic Neoplasms Stimulate 23980595