TLCD3B (TLC domain containing 3B)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83723
Gene name Gene Name - the full gene name approved by the HGNC.
TLC domain containing 3B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TLCD3B
Synonyms (NCBI Gene) Gene synonyms aliases
CORD22, FAM57B, FP1188
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615175 25295 ENSG00000149926
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Sequence length 274
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cone Dystrophy cone-rod dystrophy N/A N/A GenCC
Diabetes Type 2 diabetes N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS