Gene Gene information from NCBI Gene database.
Entrez ID 79669
Gene name Chromosome 3 open reading frame 52
Gene symbol C3orf52
Synonyms (NCBI Gene)
HYPT15TTMP
Chromosome 3
Chromosome location 3q13.2
miRNA miRNA information provided by mirtarbase database.
133
miRTarBase ID miRNA Experiments Reference
MIRT538797 hsa-miR-3606-3p PAR-CLIP 22012620
MIRT538796 hsa-miR-513a-3p PAR-CLIP 22012620
MIRT538795 hsa-miR-513c-3p PAR-CLIP 22012620
MIRT538794 hsa-miR-3653-5p PAR-CLIP 22012620
MIRT538793 hsa-miR-1976 PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183, 32336749, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005886 Component Plasma membrane IDA 32336749
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611956 26255 ENSG00000114529
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5BVD1
Protein name TPA-induced transmembrane protein
Protein function Has a role in LIPH-mediated synthesis of 2-acyl lysophosphatidic acid (LPA). LPA is a bioactive lipid mediator involved in different biological processes, and necessary to promote hair formation and growth.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Detected predominantly in the skin, with strongest expression in the inner root sheath of the hair follicle. {ECO:0000269|PubMed:32336749}.
Sequence
MDLAQPSQPVDELELSVLERQPEENTPLNGADKVFPSLDEEVPPAEANKESPWSSCNKNV
VGRCKLWMIITSIFLGVITVIIIGLCLAAVTYVDEDENEILELSSNKTFFIMLKIPEECV
AEEELPHLLTERLTDVYSTSPSLGRYFTSVEIVDFSGENATVTYDLQFGVPSDDENFMKY
MMSEELVLGILLQDFRDQNIPGCESLGLDPTSLLLYE
Sequence length 217
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hypotrichosis 15 Pathogenic rs545208237, rs764787339, rs2472299130 RCV002472348
RCV002472349
RCV002472350
★★★★☆
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
Cervical cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colorectal cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lymphoma Uncertain significance ClinVar
★★☆☆☆
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
Breast Neoplasms Breast neoplasm Pubtator 29271998 Associate
★☆☆☆☆
Found in Text Mining only