Gene Gene information from NCBI Gene database.
Entrez ID 3229
Gene name Homeobox C13
Gene symbol HOXC13
Synonyms (NCBI Gene)
ECTD9HOX3HOX3G
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.
81
miRTarBase ID miRNA Experiments Reference
MIRT004974 hsa-miR-31-5p Luciferase reporter assayqRT-PCR 19524507
MIRT039788 hsa-miR-615-3p CLASH 23622248
MIRT462052 hsa-miR-548m PAR-CLIP 23592263
MIRT462051 hsa-miR-595 PAR-CLIP 23592263
MIRT462050 hsa-miR-545-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IMP 27506447
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.
MIM HGNC e!Ensembl
142976 5125 ENSG00000123364
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P31276
Protein name Homeobox protein Hox-C13 (Homeobox protein Hox-3G)
Protein function Transcription factor which plays a role in hair follicle differentiation. Regulates FOXQ1 expression and that of other hair-specific genes (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12284 HoxA13_N 54 168 Hox protein A13 N terminal Family
PF00046 Homeodomain 261 317 Homeodomain Domain
Sequence
MTTSLLLHPRWPESLMYVYEDSAAESGIGGGGGGGGGGTGGAGGGCSGASPGKAPSMDGL
GSSCPASHCRDLLPHPVLGRPPAPLGAPQGAVYTDIPAPEAARQCAPPPAPPTSSSATLG
YGYPFGGSYYGCRLSHNVNLQQKPCAYHPGDKYPEPSGALPGDDLSSR
AKEFAFYPSFAS
SYQAMPGYLDVSVVPGISGHPEPRHDALIPVEGYQHWALSNGWDSQVYCSKEQSQSAHLW
KSPFPDVVPLQPEVSSYRRGRKKRVPYTKVQLKELEKEYAASKFITKEKRRRISATTNLS
ERQVTIWFQNRRVKEKK
VVSKSKAPHLHST
Sequence length 330
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ectodermal dysplasia 9, hair/nail type Pathogenic rs398122913, rs398122377 RCV000033003
RCV000043557
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
HOXC13-related disorder Likely benign; Uncertain significance rs34115456, rs2540125802, rs767074923 RCV003926615
RCV003931731
RCV003947270
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Areata Associate 35983595
Carcinoma Hepatocellular Associate 31539123
Carcinoma Squamous Cell Associate 37442189
Cholangiocarcinoma Associate 31040073
Colorectal Neoplasms Associate 30541551, 30884206, 38378070
Ectodermal Dysplasia Pure Hair Nail Type Associate 28403827
Esophageal Squamous Cell Carcinoma Associate 39596630
Hemangioblastoma Associate 26768750
Hematologic Neoplasms Associate 30347268
Leukemia Associate 19922474