TLCD3B (TLC domain containing 3B)

Gene

• Entrez ID: 83723
• Gene name: TLC domain containing 3B
• Gene symbol: TLCD3B
• Synonyms (NCBI Gene): CORD22, FAM57B, FP1188
• 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
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

Other IDs

• MIM: 615175
• HGNC: 25295
• e!Ensembl: ENSG00000149926

Protein

• UniProt ID: 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

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)

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

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	19125296, 19912991		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	GENOMICS_ENGLAND_DG	28041643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	BEFREE	24008422		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	24008422		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24706805		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24706805		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19125296, 19912991		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15837784, 19029835		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28572516		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23267130		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	21455605, 21756066		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24822250		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15837784, 19029835		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24008422		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28179290		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28864659		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28572516		★☆☆☆☆ Found in Text Mining only