Seroatlas · Human Serome Atlas

TSPEAR

Thrombospondin-type laminin G domain and EAR repeat-containing protein

Also known as: C21orf29, DFNB98, MGC11251, TSEAR_HUMAN, TSP-EAR

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

Protein identityUniProt · HPA

UniProt accession
Q8WU66
Gene
TSPEAR
Ensembl
ENSG00000175894
Chromosome
21
Canonical length
669 aa
Protein class
Disease related genes, Human disease related genes, Predicted secreted proteins
Secretome location
Secreted in other tissues

OverviewNCBI Gene

This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

Canonical amino-acid sequenceUniProt

669 residues, UniProt reviewed canonical sequence.

>Q8WU66|TSPEAR
     1  MSALLSLCFV LPLAAPGHGT QGWEPCTDLR PLDILAEVVP SDGATSGIRI VQVHGARGLQ
    61  LSVAAPRTMS FPASRIFSQC DLFPEEFSIV VTLRVPNLPP KRNEYLLTVV AEESDLLLLG
   121  LRLSPAQLHF LFLREDTAGA WQTRVSFRSP ALVDGRWHTL VLAVSAGVFS LTTDCGLPVD
   181  IMADVPFPAT LSVKGARFFV GSRRRAKGLF MGLVRQLVLL PGSDATPRLC PSRNAPLAVL
   241  SIPRVLQALT GKPEDNEVLK YPYETNIRVT LGPQPPCTEV EDAQFWFDAS RKGLYLCVGN
   301  EWVSVLAAKE RLDYVEEHQN LSTNSETLGI EVFRIPQVGL FVATANRKAT SAVYKWTEEK
   361  FVSYQNIPTH QAQAWRHFTI GKKIFLAVAN FEPDEKGQEF SVIYKWSHRK LKFTPYQSIA
   421  THSARDWEAF EVDGEHFLAV ANHREGDNHN IDSVIYKWNP ATRLFEANQT IATSGAYDWE
   481  FFSVGPYSFL VVANTFNGTS TKVHSHLYIR LLGSFQLFQS FPTFGAADWE VFQIGERIFL
   541  AVANSHSYDV EMQVQNDSYV INSVIYELNV TAQAFVKFQD ILTCSALDWE FFSVGEDYFL
   601  VVANSFDGRT FSVNSIIYRW QGYEGFVAVH SLPTVGCRDW EAFSTTAGAY LIYSSAKEPL
   661  SRVLRLRTR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TSPEAR 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.28
Highest tissue expression
2.4 nTPM

Expression across tissuesHPA

Tissue

  • testis: 2.4 nTPM
  • pituitary gland: 2.3 nTPM
  • heart muscle: 1.7 nTPM
  • thyroid gland: 1.3 nTPM
  • choroid plexus: 1 nTPM
  • skin: 0.9 nTPM

Single-cell type

  • thyrotrophs: 120 nCPM
  • corticotrophs: 105 nCPM
  • podocytes: 68 nCPM
  • lymphatic endothelial cells: 54 nCPM
  • early spermatids: 51 nCPM
  • gonadotrophs: 41 nCPM

Immune cell

  • neutrophil: 0.1 nTPM
  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • choroid plexus: 1.8 nTPM
  • basal ganglia: 0.7 nTPM
  • hypothalamus: 0.5 nTPM
  • medulla oblongata: 0.5 nTPM
  • cerebral cortex: 0.4 nTPM
  • thalamus: 0.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TSPEAR.

Disease | AllUniProt

Conditions TSPEAR is implicated in, by any mechanism.

  • Deafness, autosomal recessive, 98 (DFNB98) MIM:614861
  • Ectodermal dysplasia 14, hypohidrotic/hair/tooth/nail type (ECTD14) MIM:618180
  • Tooth agenesis, selective, 10 (STHAG10) MIM:620173

Disease | GeneticClinVar

72 pathogenic / likely-pathogenic of 591 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis
  • Tooth agenesis, selective, 10
  • Autosomal recessive nonsyndromic hearing loss 98
  • TSPEAR-related disorder
  • Inborn genetic diseases

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)
1.2
gnomAD pLI
0
gnomAD missense Z
-0.95
DepMap mean gene effect
0.08
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

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

TSPEAR is annotated at the cell surface, where native TSPEAR is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

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

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