HOXD12 (homeobox D12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 3238
Gene name Homeobox D12
Gene symbol HOXD12
Synonyms (NCBI Gene)
HOX4H
Chromosome 2
Chromosome location 2q31.1
Summary 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 cluster
miRNA miRNA information provided by mirtarbase database.
84
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (84)
miRTarBase ID miRNA Experiments Reference
MIRT635171 hsa-miR-3606-3p HITS-CLIP 23824327
MIRT635170 hsa-miR-513a-3p HITS-CLIP 23824327
MIRT635169 hsa-miR-513c-3p HITS-CLIP 23824327
MIRT635168 hsa-miR-495-3p HITS-CLIP 23824327
MIRT635167 hsa-miR-5688 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001501 Process Skeletal system development IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
142988 5135 ENSG00000170178
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35452
Protein name Homeobox protein Hox-D12 (Homeobox protein Hox-4H)
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 203 → 259 Homeodomain Domain
Sequence 
MCERSLYRAGYVGSLLNLQSPDSFYFSNLRPNGGQLAALPPISYPRGALPWAATPASCAP
AQPAGATAFGGFSQPYLAGSGPLGLQPPTAKDGPEEQAKFYAPEAAAGPEERGRTRPSFA
PESSLAPAVAALKAAKYDYAGVGRATPGSTTLLQGAPCAPGFKDDTKGPLNLNMTVQAAG
VASCLRPSLPDGLPWGAAPGRARKKRKPYTKQQIAELENEFLVNEFINRQKRKELSNRLN
LSDQQVKIWFQNRRMKKKRVVLREQALALY
Sequence length 270
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HOXD12-related disorder Uncertain significance; Likely benign rs558043201, rs146731562 RCV004758914
RCV003961958
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anorectal Malformations Associate 23127126
Celiac Disease Associate 27836013
Glioma Associate 18404365
Nystagmus Pathologic Associate 21654727
Oligodendroglioma Associate 39259414
Ovarian Neoplasms Stimulate 36213580
Syndactyly Associate 21654727