• Gene id: 221981

Gene Summary

• Gene Symbol: THSD7A   Gene   UCSC   Ensembl
• Gene name: thrombospondin type 1 domain containing 7A
• Alternate names: thrombospondin type-1 domain-containing protein 7A, thrombospondin, type I, domain containing 7A,
• Gene location: 7p21.3 (11832197: 11370364)     Exons: 66     NC_000007.14
• Gene summary(Entrez): The protein encoded by this gene is found almost exclusively in endothelial cells from placenta and umbilical cord. The encoded protein appears to interact with alpha(V)beta(3) integrin and paxillin to inhibit endothelial cell migration and tube formation
• OMIM: 612249

Protein Summary

• Protein general information: Q9UPZ6  
  • Name: Thrombospondin type 1 domain containing protein 7A [Cleaved into: Thrombospondin type 1 domain containing protein 7A, soluble form]
  • Length: 1657  
  • Mass: 185363
  • Tissue specificity: Detected on kidney podocytes along the glomerular capillary wall (at protein level). {ECO
• Sequence:

  MGLQARRWASGSRGAAGPRRGVLQLLPLPLPLPLLLLLLLRPGAGRAAAQGEAEAPTLYLWKTGPWGRCMGDECG
  PGGIQTRAVWCAHVEGWTTLHTNCKQAERPNNQQNCFKVCDWHKELYDWRLGPWNQCQPVISKSLEKPLECIKGE
  EGIQVREIACIQKDKDIPAEDIICEYFEPKPLLEQACLIPCQQDCIVSEFSAWSECSKTCGSGLQHRTRHVVAPP
  QFGGSGCPNLTEFQVCQSSPCEAEELRYSLHVGPWSTCSMPHSRQVRQARRRGKNKEREKDRSKGVKDPEARELI
  KKKRNRNRQNRQENKYWDIQIGYQTREVMCINKTGKAADLSFCQQEKLPMTFQSCVITKECQVSEWSEWSPCSKT
  CHDMVSPAGTRVRTRTIRQFPIGSEKECPEFEEKEPCLSQGDGVVPCATYGWRTTEWTECRVDPLLSQQDKRRGN
  QTALCGGGIQTREVYCVQANENLLSQLSTHKNKEASKPMDLKLCTGPIPNTTQLCHIPCPTECEVSPWSAWGPCT
  YENCNDQQGKKGFKLRKRRITNEPTGGSGVTGNCPHLLEAIPCEEPACYDWKAVRLGNCEPDNGKECGPGTQVQE
  VVCINSDGEEVDRQLCRDAIFPIPVACDAPCPKDCVLSTWSTWSSCSHTCSGKTTEGKQIRARSILAYAGEEGGI
  RCPNSSALQEVRSCNEHPCTVYHWQTGPWGQCIEDTSVSSFNTTTTWNGEASCSVGMQTRKVICVRVNVGQVGPK
  KCPESLRPETVRPCLLPCKKDCIVTPYSDWTSCPSSCKEGDSSIRKQSRHRVIIQLPANGGRDCTDPLYEEKACE
  APQACQSYRWKTHKWRRCQLVPWSVQQDSPGAQEGCGPGRQARAITCRKQDGGQAGIHECLQYAGPVPALTQACQ
  IPCQDDCQLTSWSKFSSCNGDCGAVRTRKRTLVGKSKKKEKCKNSHLYPLIETQYCPCDKYNAQPVGNWSDCILP
  EGKVEVLLGMKVQGDIKECGQGYRYQAMACYDQNGRLVETSRCNSHGYIEEACIIPCPSDCKLSEWSNWSRCSKS
  CGSGVKVRSKWLREKPYNGGRPCPKLDHVNQAQVYEVVPCHSDCNQYLWVTEPWSICKVTFVNMRENCGEGVQTR
  KVRCMQNTADGPSEHVEDYLCDPEEMPLGSRVCKLPCPEDCVISEWGPWTQCVLPCNQSSFRQRSADPIRQPADE
  GRSCPNAVEKEPCNLNKNCYHYDYNVTDWSTCQLSEKAVCGNGIKTRMLDCVRSDGKSVDLKYCEALGLEKNWQM
  NTSCMVECPVNCQLSDWSPWSECSQTCGLTGKMIRRRTVTQPFQGDGRPCPSLMDQSKPCPVKPCYRWQYGQWSP
  CQVQEAQCGEGTRTRNISCVVSDGSADDFSKVVDEEFCADIELIIDGNKNMVLEESCSQPCPGDCYLKDWSSWSL
  CQLTCVNGEDLGFGGIQVRSRPVIIQELENQHLCPEQMLETKSCYDGQCYEYKWMASAWKGSSRTVWCQRSDGIN
  VTGGCLVMSQPDADRSCNPPCSQPHSYCSETKTCHCEEGYTEVMSSNSTLEQCTLIPVVVLPTMEDKRGDVKTSR
  AVHPTQPSSNPAGRGRTWFLQPFGPDGRLKTWVYGVAAGAFVLLIFIVSMIYLACKKPKKPQRRQNNRLKPLTLA
  YDGDADM

• Structural information:
  • Protein Domains: (57..11-)
    1 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (120..19-)
    2 (/note="TSP-type-1)
    (/evidence="ECO:0000255-)
    (194..24-)
    3 (/note="TSP-type-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00210-)
    (3-)
  • Interpro: IPR000884  IPR036383  
  • Prosite: PS50092
  • STRING: ENSP00000406482
• Other Databases: GeneCards:  THSD7A  Malacards:  THSD7A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031532	actin cytoskeleton reorganization	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq