Gene Gene information from NCBI Gene database.
Entrez ID 221981
Gene name Thrombospondin type 1 domain containing 7A
Gene symbol THSD7A
Synonyms (NCBI Gene)
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Chromosome 7
Chromosome location 7p21.3
Summary 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
miRNA miRNA information provided by mirtarbase database.
350
miRTarBase ID miRNA Experiments Reference
MIRT612374 hsa-miR-3074-5p HITS-CLIP 19536157
MIRT612373 hsa-miR-7152-5p HITS-CLIP 19536157
MIRT616414 hsa-miR-532-5p HITS-CLIP 19536157
MIRT709128 hsa-miR-153-5p HITS-CLIP 19536157
MIRT709127 hsa-miR-4297 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
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
GO:0005886 Component Plasma membrane IDA 27214550
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612249 22207 ENSG00000005108
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 endot
PDB 8OXR
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
Tissue specificity TISSUE SPECIFICITY: Detected on kidney podocytes along the glomerular capillary wall (at protein level). {ECO:0000269|PubMed:25394321}.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Defective B3GALTL causes Peters-plus syndrome (PpS)
O-glycosylation of TSR domain-containing proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
7
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
THSD7A-related disorder Uncertain significance; Likely benign rs139941041, rs2534328611, rs757846971, rs536177295, rs61996269, rs185949384, rs2533736416 RCV003963768
RCV003397463
RCV003412122
RCV003964488
RCV003952097
RCV003922257
RCV003956810
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Autoimmune Diseases Associate 30520531
Bipolar Disorder Associate 32627186, 40562893
Breast Neoplasms Stimulate 31443644
Carcinoma Ovarian Epithelial Associate 30898391
Carcinoma Squamous Cell Associate 37445817
Colorectal Neoplasms Stimulate 31443644
Colorectal Neoplasms Associate 40098080
Drug Hypersensitivity Associate 30868298
Endometrial Neoplasms Associate 27436855
Eosinophilia Associate 31705303