HOXC12 (homeobox C12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 3228
Gene name Homeobox C12
Gene symbol HOXC12
Synonyms (NCBI Gene)
HOC3FHOX3HOX3F
Chromosome 12
Chromosome location 12q13.13
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.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT021328 hsa-miR-9-5p Microarray 17612493
MIRT025753 hsa-miR-7-5p Microarray 17612493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IEA
GO:0006355 Process Regulation of DNA-templated transcription IEA
GO:0006357 Process Regulation of transcription by RNA polymerase II 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
142975 5124 ENSG00000123407
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.
P31275
Protein name Homeobox protein Hox-C12 (Homeobox protein Hox-3F)
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 215 → 271 Homeodomain Domain
Sequence 
MGEHNLLNPGFVGPLVNIHTGDTFYFPNFRASGAQLPGLPSLSYPRRDNVCSLSWPSAEP
CNGYPQPYLGSPVSLNPPFGRTCELARVEDGKGYYREPCAEGGGGGLKREERGRDPGAGP
GAALLPLEPSGPPALGFKYDYAAGGGGGDGGGGAGPPHDPPSCQSLESDSSSSLLNEGNK
GAGAGDPGSLVSPLNPGGGLSASGAPWYPINSRSRKKRKPYSKLQLAELEGEFLVNEFIT
RQRRRELSDRLNLSDQQVKIWFQNRRMKKKRLLLREQALSFF
Sequence length 282
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (9)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Cognition Disorders Cognition disorder Pubtator 39615603 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Congenital clubfoot Congenital Clubfoot BEFREE 26729820
★★★★★
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down syndrome Pubtator 31915063 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Head and Neck Neoplasms Head and neck neoplasm Pubtator 24786473 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hematologic Neoplasms Hematologic neoplasm Pubtator 39615603 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hydatidiform Mole Hydatidiform Mole BEFREE 1971215
★★★★★
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 26449484 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 32176636 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Vertical Talus Vertical Talus BEFREE 26729820
★★★★★
★☆☆☆☆
Found in Text Mining only