Gene Gene information from NCBI Gene database.
Entrez ID 3223
Gene name Homeobox C6
Gene symbol HOXC6
Synonyms (NCBI Gene)
CP25HHO.C8HOX3HOX3C
Chromosome 12
Chromosome location 12q13.13
Summary This gene belongs to the homeobox family, members of which 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 clusters, HOXA, HO
miRNA miRNA information provided by mirtarbase database.
161
miRTarBase ID miRNA Experiments Reference
MIRT017144 hsa-miR-335-5p Microarray 18185580
MIRT021916 hsa-miR-128-3p Sequencing 20371350
MIRT028721 hsa-miR-27a-3p Sequencing 20371350
MIRT502247 hsa-miR-6758-5p PAR-CLIP 24398324
MIRT502246 hsa-miR-6856-5p PAR-CLIP 24398324
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
MLL2 Unknown 21683083
MLL3 Unknown 21683083
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
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
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
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
142972 5128 ENSG00000197757
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09630
Protein name Homeobox protein Hox-C6 (Homeobox protein CP25) (Homeobox protein HHO.C8) (Homeobox protein Hox-3C)
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 142 198 Homeodomain Domain
Sequence
MNSYFTNPSLSCHLAGGQDVLPNVALNSTAYDPVRHFSTYGAAVAQNRIYSTPFYSPQEN
VVFSSSRGPYDYGSNSFYQEKDMLSNCRQNTLGHNTQTSIAQDFSSEQGRTAPQDQKASI
QIYPWMQRMNSHSGVGYGADRRRGRQIYSRYQTLELEKEFHFNRYLTRRRRIEIANALCL
TERQIKIWFQNRRMKWKK
ESNLTSTLSGGGGGATADSLGGKEEKREETEEEKQKE
Sequence length 235
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis BEFREE 29930509, 30446734, 30557832, 30798135, 31521892, 31661133
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 29410624, 30804784
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 9354682
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 24937670
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25725483, 8870653
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 21683083, 8870653 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28397780 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoid Tumor Carcinoid tumor Pubtator 18655788 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29348394 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of larynx Laryngeal carcinoma BEFREE 31629025
★☆☆☆☆
Found in Text Mining only