Gene Gene information from NCBI Gene database.
Entrez ID 3222
Gene name Homeobox C5
Gene symbol HOXC5
Synonyms (NCBI Gene)
CP11HOX3HOX3D
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.
55
miRTarBase ID miRNA Experiments Reference
MIRT1053606 hsa-miR-1912 CLIP-seq
MIRT1053607 hsa-miR-3120-3p CLIP-seq
MIRT1053608 hsa-miR-3121-3p CLIP-seq
MIRT1053609 hsa-miR-3908 CLIP-seq
MIRT1053610 hsa-miR-4259 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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
142973 5127 ENSG00000172789
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00444
Protein name Homeobox protein Hox-C5 (Homeobox protein CP11) (Homeobox protein Hox-3D)
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 156 212 Homeodomain Domain
Sequence
MSSYVANSFYKQSPNIPAYNMQTCGNYGSASEVQASRYCYGGLDLSITFPPPAPSNSLHG
VDMAANPRAHPDRPACSAAAAPGHAPGRDEAAPLNPGMYSQKAARPALEERAKSSGEIKE
EQAQTGQPAGLSQPPAPPQIYPWMTKLHMSHETDGKRSRTSYTRYQTLELEKEFHFNRYL
TRRRRIEIANNLCLNERQIKIWFQNRRMKWKK
DSKMKSKEAL
Sequence length 222
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
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
Acute Erythroblastic Leukemia Erythroblastic Leukemia BEFREE 9823947
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 9823947
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 9823947
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia BEFREE 9823947
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 9823947
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 9354682
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart Diseases LHGDN 16215934
★☆☆☆☆
Found in Text Mining only
Hydatidiform Mole Hydatidiform Mole BEFREE 1971215
★☆☆☆☆
Found in Text Mining only
Ki-1+ Anaplastic Large Cell Lymphoma Anaplastic Lymphoma BEFREE 9327740
★☆☆☆☆
Found in Text Mining only
leukemia Leukemia BEFREE 8634419, 9823947
★☆☆☆☆
Found in Text Mining only