• Gene id: 54084

Gene Summary

• Gene Symbol: TSPEAR   Gene   UCSC   Ensembl
• Aliases: C21orf29, DFNB98, ECTD14, TSP-EAR
• Gene name: thrombospondin type laminin G domain and EAR repeats
• Alternate names: thrombospondin-type laminin G domain and EAR repeat-containing protein, thrombospondin-type laminin G domain and EAR repeats-containing protein,
• Gene location: 21q22.3 (44711571: 44497892)     Exons: 13     NC_000021.9
• Gene summary(Entrez): 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
• OMIM: 174761

Protein Summary

• Protein general information: Q8WU66  
  • Name: Thrombospondin type laminin G domain and EAR repeat containing protein (TSP EAR)
  • Length: 669  
  • Mass: 74924
• Sequence:

  MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGATSGIRIVQVHGARGLQLSVAAPRTMSFPASR
  IFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSP
  ALVDGRWHTLVLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDA
  TPRLCPSRNAPLAVLSIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFWFDASRKGLYLCVGN
  EWVSVLAAKERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAW
  RHFTIGKKIFLAVANFEPDEKGQEFSVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHN
  IDSVIYKWNPATRLFEANQTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLFQSFPTFG
  AADWEVFQIGERIFLAVANSHSYDVEMQVQNDSYVINSVIYELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFL
  VVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR

• Structural information:
  • Protein Domains: (58..27-)
    (/note="Laminin-G-like")
  • Interpro: IPR013320  IPR009039  IPR005492  IPR001791  
  • Prosite: PS50912
  • STRING: ENSP00000321987
• Other Databases: GeneCards:  TSPEAR  Malacards:  TSPEAR

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IBA	biological process
GO:0034505	tooth mineralization	IMP	biological process
GO:0008593	regulation of Notch signaling pathway	IMP	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007605	sensory perception of sound	IMP	biological process
GO:0060170	ciliary membrane	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0032420	stereocilium	IEA	cellular component
GO:0032420	stereocilium	ISS	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0009986	cell surface	ISS	cellular component
GO:0007605	sensory perception of sound	IMP	biological process

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray