Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3229
Gene name Gene Name - the full gene name approved by the HGNC.
Homeobox C13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HOXC13
Synonyms (NCBI Gene) Gene synonyms aliases
ECTD9, HOX3, HOX3G
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ECTD9
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.13
Summary Summary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT004974 hsa-miR-31-5p Luciferase reporter assay, qRT-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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
142976 5125 ENSG00000123364
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Ectodermal dysplasia Ectodermal Dysplasia, Ectodermal Dysplasia, Pure Hair-Nail Type, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, Pure hair and nail ectodermal dysplasia rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326
View all (42 more)
23063621, 24239177, 28297138
Hypotrichosis Hypotrichosis rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819
View all (18 more)
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Biliary Atresia Biliary Atresia GWAS
Associations from Text Mining
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