Seroatlas · Human Serome Atlas

TLCD3B

Ceramide synthase

Also known as: DKFZP434I2117, FAM57B, TLC3B_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q71RH2
Gene
TLCD3B
Ensembl
ENSG00000149926
Chromosome
16
Canonical length
274 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

274 residues, UniProt reviewed canonical sequence.

>Q71RH2|TLCD3B
     1  MLTPMVAGGV VFPGLFLLSK NTLQRLPQLR WEEADAVIVS ARLVSSVQAI MASTAGYIVS
    61  TSCKHIIDDQ HWLSSAYTQF AVPYFIYDIY AMFLCHWHKH QVKGHGGDDG AARAPGSTWA
   121  IARGYLHKEF LMVLHHAAMV LVCFPLSVVW RQGKGDFFLG CMLMAEVSTP FVCLGKILIQ
   181  YKQQHTLLHK VNGALMLLSF LCCRVLLFPY LYWAYGRHAG LPLLAVPLAI PAHVNLGAAL
   241  LLAPQLYWFF LICRGACRLF WPRSRPPPAC QAQD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TLCD3B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Other membrane
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.32
Highest tissue expression
99 nTPM

Expression across tissuesHPA

Tissue

  • testis: 99 nTPM
  • cerebellum: 84 nTPM
  • retina: 63 nTPM
  • cerebral cortex: 41 nTPM
  • hippocampal formation: 31 nTPM
  • amygdala: 25 nTPM

Single-cell type

  • late primary spermatocytes: 191 nCPM
  • rod photoreceptor cells: 127 nCPM
  • early spermatids: 124 nCPM
  • cone photoreceptor cells: 97 nCPM
  • late spermatids: 84 nCPM
  • early primary spermatocytes: 37 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebral cortex: 103 nTPM
  • pons: 86 nTPM
  • cerebellum: 77 nTPM
  • medulla oblongata: 69 nTPM
  • thalamus: 64 nTPM
  • white matter: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TLCD3B.

Disease | AllUniProt

Conditions TLCD3B is implicated in, by any mechanism.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 35 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Cone-rod dystrophy 22

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.52
gnomAD pLI
0.66
DepMap mean gene effect
-0.14
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TLCD3B as an antibody target. Whether an autoantibody or antibody against TLCD3B could matter depends on whether native TLCD3B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TLCD3B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TLCD3B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TLCD3B. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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