Gene Gene information from NCBI Gene database.
Entrez ID 157378
Gene name Transmembrane protein 65
Gene symbol TMEM65
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8q24.13
miRNA miRNA information provided by mirtarbase database.
305
miRTarBase ID miRNA Experiments Reference
MIRT028186 hsa-miR-33a-5p Sequencing 20371350
MIRT032438 hsa-let-7b-5p Proteomics 18668040
MIRT632299 hsa-miR-4695-5p HITS-CLIP 23824327
MIRT632297 hsa-miR-4768-3p HITS-CLIP 23824327
MIRT632296 hsa-miR-4459 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0003231 Process Cardiac ventricle development IBA
GO:0003231 Process Cardiac ventricle development IEA
GO:0003231 Process Cardiac ventricle development ISS
GO:0005515 Function Protein binding IPI 32296183
GO:0005730 Component Nucleolus IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616609 25203 ENSG00000164983
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PI78
Protein name Transmembrane protein 65
Protein function Essential for maintaining proper cardiac intercalated disk (ICD) structure and function as well as cardiac conduction velocity in the heart. Its association with SCN1B is required for stabilizing the perinexus in the ICD and for localization of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10507 TMEM65 120 228 Transmembrane protein 65 Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed the ventricular tissue (at protein level). {ECO:0000269|PubMed:26403541}.
Sequence
MSRLLPLLRSRTARSLRPGPAAAAAPRPPSWCCCGRGLLALAPPGGLPGGPRRLGTHPKK
EPMEALNTAQGARDFIYSLHSTERSCLLKELHRFESIAIAQEKLEAPPPTPGQLRYVFIH
NAIPFIGFGFLDNAIMIVAGTHIEMSIGIILGISTMAAAALGNLVSDLAGLGLAGYVEAL
ASRLGLSIPDLTPKQVDMWQTRLSTHLGKAVGVTIGCILGMFPLIFFG
GGEEDEKLETKS
Sequence length 240
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE ClinGen, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
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
Mitochondrial Diseases Mitochondrial disease Pubtator 28295037 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Mitochondrial Encephalomyopathies Mitochondrial encephalomyopathy BEFREE 28295037
★☆☆☆☆
Found in Text Mining only
Mitochondrial Encephalomyopathies Mitochondrial encephalomyopathy Pubtator 28295037 Associate
★☆☆☆☆
Found in Text Mining only
Mitochondrial Myopathies Mitochondrial myopathy BEFREE 28295037
★☆☆☆☆
Found in Text Mining only
Mitochondrial Myopathies Mitochondrial myopathy Pubtator 28295037 Associate
★☆☆☆☆
Found in Text Mining only