Seroatlas · Human Serome Atlas

TGFB3

Transforming growth factor beta-3 proprotein

Also known as: ARVD, ARVD1, TGFB3_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
P10600
Gene
TGFB3
Ensembl
ENSG00000119699
Chromosome
14
Canonical length
412 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted secreted proteins
Subcellular location
Vesicles
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGF-beta family members. This protein is involved in embryogenesis and cell differentiation, and may play a role in wound healing. Mutations in this gene are a cause of aortic aneurysms and dissections, as well as familial arrhythmogenic right ventricular dysplasia 1. [provided by RefSeq, Aug 2016]

Canonical amino-acid sequenceUniProt

412 residues, UniProt reviewed canonical sequence.

>P10600|TGFB3
     1  MKMHLQRALV VLALLNFATV SLSLSTCTTL DFGHIKKKRV EAIRGQILSK LRLTSPPEPT
    61  VMTHVPYQVL ALYNSTRELL EEMHGEREEG CTQENTESEY YAKEIHKFDM IQGLAEHNEL
   121  AVCPKGITSK VFRFNVSSVE KNRTNLFRAE FRVLRVPNPS SKRNEQRIEL FQILRPDEHI
   181  AKQRYIGGKN LPTRGTAEWL SFDVTDTVRE WLLRRESNLG LEISIHCPCH TFQPNGDILE
   241  NIHEVMEIKF KGVDNEDDHG RGDLGRLKKQ KDHHNPHLIL MMIPPHRLDN PGQGGQRKKR
   301  ALDTNYCFRN LEENCCVRPL YIDFRQDLGW KWVHEPKGYY ANFCSGPCPY LRSADTTHST
   361  VLGLYNTLNP EASASPCCVP QDLEPLTILY YVGRTPKVEQ LSNMVVKSCK CS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TGFB3 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
Secreted
Secreted
Yes
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.38
Highest tissue expression
52 nTPM

Expression across tissuesHPA

Tissue

  • placenta: 52 nTPM
  • cervix: 44 nTPM
  • urinary bladder: 43 nTPM
  • midbrain: 39 nTPM
  • prostate: 36 nTPM
  • spinal cord: 36 nTPM

Single-cell type

  • prostatic glandular cells: 73 nCPM
  • late spermatids: 72 nCPM
  • hepatic stellate cells: 65 nCPM
  • pericytes: 50 nCPM
  • vascular smooth muscle cells: 40 nCPM
  • breast hormone-responsive cells: 35 nCPM

Immune cell

  • naive CD4 T-cell: 0.2 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • white matter: 119 nTPM
  • basal ganglia: 69 nTPM
  • amygdala: 65 nTPM
  • midbrain: 63 nTPM
  • thalamus: 62 nTPM
  • medulla oblongata: 61 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TGFB3.

Disease | AllUniProt

Conditions TGFB3 is implicated in, by any mechanism.

  • Arrhythmogenic right ventricular dysplasia, familial, 1 (ARVD1) MIM:107970
  • Loeys-Dietz syndrome 5 (LDS5) MIM:615582

Disease | GeneticClinVar

82 pathogenic / likely-pathogenic of 725 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Disease | ImmuneIEDB

Conditions an epitope on TGFB3 was assayed in.

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)
0.27
gnomAD pLI
0.99
gnomAD missense Z
1.66
DepMap mean gene effect
-0.04
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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

InteractionsUniProt · HPA

Protein binding partners of TGFB3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TGFB3 as an antibody target. Whether an autoantibody or antibody against TGFB3 could matter depends on whether native TGFB3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TGFB3 is annotated as secreted, so native TGFB3 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label TGFB3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TGFB3. 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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