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 transcript variants. [provided by RefSeq, Jan 2016] See more...

Aliases for TLCD3B Gene

Aliases for TLCD3B Gene

  • TLC Domain Containing 3B 2 3 5
  • Family With Sequence Similarity 57 Member B 2 3
  • TLC Domain-Containing Protein 3B 3 4
  • TLC Domain Ceramide Synthase 3B 2 3
  • Ceramide Synthase 3 4
  • Protein FAM57B 3 4
  • TLC Domain 3B 2 3
  • FAM57B 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • DKFZP434I2117 2
  • EC 2.3.1.- 4
  • FP1188 3
  • TLCD3B 5

External Ids for TLCD3B Gene

Previous HGNC Symbols for TLCD3B Gene

  • FAM57B

Previous GeneCards Identifiers for TLCD3B Gene

  • GC16M030025
  • GC16M030028
  • GC16M030036

Summaries for TLCD3B Gene

Entrez Gene Summary for TLCD3B 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 transcript variants. [provided by RefSeq, Jan 2016]

GeneCards Summary for TLCD3B Gene

TLCD3B (TLC Domain Containing 3B) is a Protein Coding gene. Diseases associated with TLCD3B include Central Nervous System Germ Cell Tumor. An important paralog of this gene is TLCD3A.

UniProtKB/Swiss-Prot Summary for TLCD3B Gene

Gene Wiki entry for TLCD3B Gene

Additional gene information for TLCD3B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TLCD3B Gene

Genomics for TLCD3B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TLCD3B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TLCD3B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TLCD3B

Genomic Locations for TLCD3B Gene

Genomic Locations for TLCD3B Gene
chr16:30,024,423-30,053,026
(GRCh38/hg38)
Size:
28,604 bases
Orientation:
Minus strand
chr16:30,035,748-30,064,299
(GRCh37/hg19)
Size:
28,552 bases
Orientation:
Minus strand

Genomic View for TLCD3B Gene

Genes around TLCD3B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TLCD3B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TLCD3B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TLCD3B Gene

Proteins for TLCD3B Gene

  • Protein details for TLCD3B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q71RH2-TLC3B_HUMAN
    Recommended name:
    Ceramide synthase
    Protein Accession:
    Q71RH2
    Secondary Accessions:
    • Q9H0J1

    Protein attributes for TLCD3B Gene

    Size:
    274 amino acids
    Molecular mass:
    30629 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TLCD3B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TLCD3B Gene

Post-translational modifications for TLCD3B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TLCD3B Gene

Domains & Families for TLCD3B Gene

Gene Families for TLCD3B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TLCD3B Gene

InterPro:
Blocks:
  • TRAM, LAG1 and CLN8 homology
ProtoNet:

Suggested Antigen Peptide Sequences for TLCD3B Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM57B (FA57B_HUMAN)
genes like me logo Genes that share domains with TLCD3B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TLCD3B Gene

Function for TLCD3B Gene

Molecular function for TLCD3B Gene

UniProtKB/Swiss-Prot Function:
Involved in ceramide synthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=octadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N-octadecanoylsphing-4-enine; Xref=Rhea:RHEA:36691, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57394, ChEBI:CHEBI:57756, ChEBI:CHEBI:72961; Evidence={ECO:0000250|UniProtKB:Q7TNV1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=eicosanoyl-CoA + sphing-4-enine = CoA + H(+) + N-eicosanoyl-sphing-4-enine; Xref=Rhea:RHEA:45284, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57380, ChEBI:CHEBI:57756, ChEBI:CHEBI:72962; Evidence={ECO:0000250|UniProtKB:Q7TNV1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=hexadecanoyl-CoA + sphing-4-enine = CoA + H(+) + N-hexadecanoylsphing-4-enine; Xref=Rhea:RHEA:36687, ChEBI:CHEBI:15378, ChEBI:CHEBI:57287, ChEBI:CHEBI:57379, ChEBI:CHEBI:57756, ChEBI:CHEBI:72959; Evidence={ECO:0000250|UniProtKB:Q7TNV1};.

Enzyme Numbers (IUBMB) for TLCD3B Gene

Phenotypes From GWAS Catalog for TLCD3B Gene

Gene Ontology (GO) - Molecular Function for TLCD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0050291 sphingosine N-acyltransferase activity IEA --
genes like me logo Genes that share ontologies with TLCD3B: view
genes like me logo Genes that share phenotypes with TLCD3B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLCD3B

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for TLCD3B Gene

Localization for TLCD3B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TLCD3B Gene

[Isoform 1]: Golgi apparatus membrane. Multi-pass membrane protein.
[Isoform 2]: Endoplasmic reticulum membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TLCD3B gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 3
golgi apparatus 3

Gene Ontology (GO) - Cellular Components for TLCD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TLCD3B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TLCD3B Gene

Pathways & Interactions for TLCD3B Gene

PathCards logo

SuperPathways for TLCD3B Gene

No Data Available

Interacting Proteins for TLCD3B Gene

Gene Ontology (GO) - Biological Process for TLCD3B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0045599 negative regulation of fat cell differentiation IEA --
GO:0046513 ceramide biosynthetic process IEA --
genes like me logo Genes that share ontologies with TLCD3B: view

No data available for Pathways by source and SIGNOR curated interactions for TLCD3B Gene

Drugs & Compounds for TLCD3B Gene

No Compound Related Data Available

Transcripts for TLCD3B Gene

mRNA/cDNA for TLCD3B Gene

3 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TLCD3B

Alternative Splicing Database (ASD) splice patterns (SP) for TLCD3B Gene

No ASD Table

Relevant External Links for TLCD3B Gene

GeneLoc Exon Structure for
TLCD3B

Expression for TLCD3B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TLCD3B

SOURCE GeneReport for Unigene cluster for TLCD3B Gene:

Hs.558560

Evidence on tissue expression from TISSUES for TLCD3B Gene

  • Nervous system(4.5)
  • Eye(3.3)
genes like me logo Genes that share expression patterns with TLCD3B: view

Primer Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TLCD3B Gene

Orthologs for TLCD3B Gene

This gene was present in the common ancestor of animals.

Orthologs for TLCD3B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM57B 30 31
  • 98.42 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM57B 30 31
  • 91 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam57b 30 31
  • 89.54 (n)
OneToOne
Tlcd3b 17
Rat
(Rattus norvegicus)
Mammalia Fam57b 30
  • 89.29 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM57B 31
  • 79 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM57B 31
  • 67 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM57B 31
  • 69 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.32611 30
Zebrafish
(Danio rerio)
Actinopterygii fam57ba 30 31
  • 67.93 (n)
OneToMany
fam57bb 31
  • 60 (a)
OneToMany
wufb95d07 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011200 30
  • 51.68 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG17841 30 31
  • 51.26 (n)
OneToMany
Species where no ortholog for TLCD3B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for TLCD3B Gene

ENSEMBL:
Gene Tree for TLCD3B (if available)
TreeFam:
Gene Tree for TLCD3B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TLCD3B: view image

Paralogs for TLCD3B Gene

Paralogs for TLCD3B Gene

genes like me logo Genes that share paralogs with TLCD3B: view

Variants for TLCD3B Gene

Additional dbSNP identifiers (rs#s) for TLCD3B Gene

Structural Variations from Database of Genomic Variants (DGV) for TLCD3B Gene

Variant ID Type Subtype PubMed ID
nsv1160384 CNV duplication 26073780
nsv478491 CNV novel sequence insertion 20440878

Variation tolerance for TLCD3B Gene

Residual Variation Intolerance Score: 24.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.65; 65.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TLCD3B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TLCD3B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TLCD3B Gene

Disorders for TLCD3B Gene

MalaCards: The human disease database

(1) MalaCards diseases for TLCD3B Gene - From: DISEASES

Disorder Aliases PubMed IDs
central nervous system germ cell tumor
  • central nervous system germ cell tumour
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with TLCD3B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TLCD3B Gene

Publications for TLCD3B Gene

  1. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S … Poustka A (Genome research 2001) 2 3 4
  2. Fam57b (family with sequence similarity 57, member B), a novel peroxisome proliferator-activated receptor γ target gene that regulates adipogenesis through ceramide synthesis. (PMID: 23275342) Yamashita-Sugahara Y … Okazaki Y (The Journal of biological chemistry 2013) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PMID: 15498874) Wan D … Gu J (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4
  5. ZFP36L2 is a cell cycle-regulated CCCH protein necessary for DNA lesion-induced S-phase arrest. (PMID: 29449217) Noguchi A … Kawahara H (Biology open 2018) 3

Products for TLCD3B Gene

Sources for TLCD3B Gene