Gene Gene information from NCBI Gene database.
Entrez ID 148534
Gene name TLC domain containing 4
Gene symbol TLCD4
Synonyms (NCBI Gene)
TMEM56
Chromosome 1
Chromosome location 1p21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IBA
GO:0016020 Component Membrane IEA
GO:0055088 Process Lipid homeostasis IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96MV1
Protein name TLC domain-containing protein 4 (Transmembrane protein 56)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03798 TRAM_LAG1_CLN8 48 239 TLC domain Domain
Sequence
Sequence length 263
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME 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
Bipolar Disorder Bipolar Disorder GWASCAT_DG 31043756
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Hypertrophic Hypertrophic cardiomyopathy Pubtator 31889077 Inhibit
★☆☆☆☆
Found in Text Mining only
Coronary Disease Coronary artery disease Pubtator 23539218 Associate
★☆☆☆☆
Found in Text Mining only
Hypertension Hypertension Pubtator 22479346 Associate
★☆☆☆☆
Found in Text Mining only
Sepsis Sepsis Pubtator 33818300 Associate
★☆☆☆☆
Found in Text Mining only