Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID	83723
Gene name	TLC domain containing 3B
Gene symbol	TLCD3B
Synonyms (NCBI Gene)	CORD22FAM57BFP1188
Chromosome	16
Chromosome location	16p11.2
Summary	This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcri

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence
GO:0000139	Component	Golgi membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0045599	Process	Negative regulation of fat cell differentiation	IEA
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0050291	Function	Sphingosine N-acyltransferase activity	IBA
GO:0050291	Function	Sphingosine N-acyltransferase activity	IEA
GO:0055088	Process	Lipid homeostasis	IBA

MIM	HGNC	e!Ensembl
615175	25295	ENSG00000149926

Q71RH2

Protein name

Ceramide synthase (EC 2.3.1.-) (Protein FAM57B) (TLC domain-containing protein 3B)

Protein function

Involved in ceramide synthesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03798	TRAM_LAG1_CLN8	39 → 254	TLC domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in testis (PubMed:33077892). Expressed in the retina with higher expression levels in the macular than in the peripheral region (PubMed:33077892). {ECO:0000269|PubMed:33077892}.

Sequence

MLTPMVAGGVVFPGLFLLSKNTLQRLPQLRWEEADAVIVSARLVSSVQAIMASTAGYIVS
TSCKHIIDDQHWLSSAYTQFAVPYFIYDIYAMFLCHWHKHQVKGHGGDDGAARAPGSTWA
IARGYLHKEFLMVLHHAAMVLVCFPLSVVWRQGKGDFFLGCMLMAEVSTPFVCLGKILIQ
YKQQHTLLHKVNGALMLLSFLCCRVLLFPYLYWAYGRHAGLPLLAVPLAIPAHVNLGAAL
LLAPQLYWFFLICRGACRLFWPRSRPPPACQAQD

Sequence length

274

Interactions

View interactions

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 Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod dystrophy 22	Pathogenic	rs745587834, rs2150976700	RCV001678583 RCV001678584	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
CATARACT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE ROD DYSTROPHY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONE-ROD DYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

TLCD3B (TLC domain containing 3B)