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THSD7A (thrombospondin type 1 domain containing 7A)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221981
Gene nameGene Name - the full gene name approved by the HGNC.
Thrombospondin type 1 domain containing 7A
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
THSD7A
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.3
SummarySummary of gene provided in NCBI Entrez Gene.
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. This protein may be involved in cytoskeletal organization. Variations in this gene may be associated with low bone mineral density in osteoporosis. [provided by RefSeq, Aug 2010]
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT520745 hsa-miR-574-5p PAR-CLIP 23446348
MIRT520745 hsa-miR-574-5p PAR-CLIP 21572407
MIRT520746 hsa-miR-448 PAR-CLIP 23446348
MIRT520746 hsa-miR-448 PAR-CLIP, HITS-CLIP 21572407
MIRT520747 hsa-miR-6867-5p PAR-CLIP 23446348
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane IDA 27214550
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID Q9UPZ6
Protein name Thrombospondin type-1 domain-containing protein 7A [Cleaved into: Thrombospondin type-1 domain-containing protein 7A, soluble form]
Protein function [Thrombospondin type-1 domain-containing protein 7A]: Plays a role in actin cytoskeleton rearrangement. ; [Thrombospondin type-1 domain-containing protein 7A, soluble form]: The soluble form promotes endothelial cell migration and filopodia formation during sprouting angiogenesis via a FAK-dependent mechanism.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19030 TSP1_ADAMTS
61 115
Domain
PF19028 TSP1_spondin
195 246
Spondin-like TSP1 domain
Domain
PF00090 TSP_1
364 416
Thrombospondin type 1 domain
Domain
PF19028 TSP1_spondin
635 694
Spondin-like TSP1 domain
Domain
PF00090 TSP_1
775 830
Thrombospondin type 1 domain
Domain
PF00090 TSP_1
910 960
Thrombospondin type 1 domain
Domain
PF00090 TSP_1
1039 1093
Thrombospondin type 1 domain
Domain
PF19030 TSP1_ADAMTS
1099 1162
Domain
PF00090 TSP_1
1169 1219
Thrombospondin type 1 domain
Domain
PF19028 TSP1_spondin
1287 1340
Spondin-like TSP1 domain
Domain
PF00090 TSP_1
1344 1392
Thrombospondin type 1 domain
Domain
PF19028 TSP1_spondin
1415 1474
Spondin-like TSP1 domain
Domain
Sequence
MGLQARRWASGSRGAAGPRRGVLQLLPLPLPLPLLLLLLLRPGAGRAAAQGEAEAPTLYL
WKTGPWGRCMGDECGPGGIQTRAVWCAHVEGWTTLHTNCKQAERPNNQQNCFKVCDWHKE
LYDWRLGPWNQCQPVISKSLEKPLECIKGEEGIQVREIACIQKDKDIPAEDIICEYFEPK
PLLEQACLIPCQQDCIVSEFSAWSECSKTCGSGLQHRTRHVVAPPQFGGSGCPNLTEFQV
CQSSPC
EAEELRYSLHVGPWSTCSMPHSRQVRQARRRGKNKEREKDRSKGVKDPEARELI
KKKRNRNRQNRQENKYWDIQIGYQTREVMCINKTGKAADLSFCQQEKLPMTFQSCVITKE
CQVSEWSEWSPCSKTCHDMVSPAGTRVRTRTIRQFPIGSEKECPEFEEKEPCLSQGDGVV
PCATYGWRTTEWTECRVDPLLSQQDKRRGNQTALCGGGIQTREVYCVQANENLLSQLSTH
KNKEASKPMDLKLCTGPIPNTTQLCHIPCPTECEVSPWSAWGPCTYENCNDQQGKKGFKL
RKRRITNEPTGGSGVTGNCPHLLEAIPCEEPACYDWKAVRLGNCEPDNGKECGPGTQVQE
VVCINSDGEEVDRQLCRDAIFPIPVACDAPCPKDCVLSTWSTWSSCSHTCSGKTTEGKQI
RARSILAYAGEEGGIRCPNSSALQEVRSCNEHPC
TVYHWQTGPWGQCIEDTSVSSFNTTT
TWNGEASCSVGMQTRKVICVRVNVGQVGPKKCPESLRPETVRPCLLPCKKDCIVTPYSDW
TSCPSSCKEGDSSIRKQSRHRVIIQLPANGGRDCTDPLYEEKACEAPQAC
QSYRWKTHKW
RRCQLVPWSVQQDSPGAQEGCGPGRQARAITCRKQDGGQAGIHECLQYAGPVPALTQACQ
IPCQDDCQLTSWSKFSSCNGDCGAVRTRKRTLVGKSKKKEKCKNSHLYPLIETQYCPCDK
YNAQPVGNWSDCILPEGKVEVLLGMKVQGDIKECGQGYRYQAMACYDQNGRLVETSRCNS
HGYIEEACIIPCPSDCKLSEWSNWSRCSKSCGSGVKVRSKWLREKPYNGGRPCPKLDHVN
QAQVYEVVPCHSD
CNQYLWVTEPWSICKVTFVNMRENCGEGVQTRKVRCMQNTADGPSEH
VEDYLCDPEEMPLGSRVCKLPC
PEDCVISEWGPWTQCVLPCNQSSFRQRSADPIRQPADE
GRSCPNAVEKEPCNLNKNC
YHYDYNVTDWSTCQLSEKAVCGNGIKTRMLDCVRSDGKSVD
LKYCEALGLEKNWQMNTSCMVECPVNCQLSDWSPWSECSQTCGLTGKMIRRRTVTQPFQG
DGRPCPSLMDQSKPCPVKPC
YRWQYGQWSPCQVQEAQCGEGTRTRNISCVVSDGSADDFS
KVVDEEFCADIE
LIIDGNKNMVLEESCSQPCPGDCYLKDWSSWSLCQLTCVNGEDLGFGG
IQVRSRPVIIQELENQHLCPEQMLETKSCYDGQC
YEYKWMASAWKGSSRTVWCQRSDGIN
VTGGCLVMSQPDADRSCNPPCSQPHSYCSETKTCHCEEGYTEVMSSNSTLEQCTLIPVVV
LPTMEDKRGDVKTSRAVHPTQPSSNPAGRGRTWFLQPFGPDGRLKTWVYGVAAGAFVLLI
FIVSMIYLACKKPKKPQRRQNNRLKPLTLAYDGDADM
Sequence length 1657
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537 29472232
Leukemia Leukemia, Myelocytic, Acute rs-1, rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Glaucoma Glaucoma, Glaucoma, Open-Angle rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644 30054594, 29891935
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder, Depression, Bipolar 31043756
Kidney failure Kidney Failure, Chronic 31178898
Manic disorder Manic, Manic Disorder 31043756
Ovarian neoplasm ovarian neoplasm 30898391

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