TLCD4 (TLC domain containing 4)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
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
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (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.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
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
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (4)
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
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Cardiomyopathy Hypertrophic Inhibit 31889077
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Disease Associate 23539218
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypertension Associate 22479346
★★★★★
★☆☆☆☆
Found in Text Mining only
Respiratory Distress Syndrome Associate 33818300
★★★★★
★☆☆☆☆
Found in Text Mining only
Sepsis Associate 33818300
★★★★★
★☆☆☆☆
Found in Text Mining only