Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80731
Gene name Gene Name - the full gene name approved by the HGNC.
Thrombospondin type 1 domain containing 7B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
THSD7B
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q22.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1424008 hsa-miR-1304 CLIP-seq
MIRT1424009 hsa-miR-1827 CLIP-seq
MIRT1424010 hsa-miR-192 CLIP-seq
MIRT1424011 hsa-miR-215 CLIP-seq
MIRT1424012 hsa-miR-338-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IBA 21873635
GO:0016021 Component Integral component of membrane IEA
GO:0031532 Process Actin cytoskeleton reorganization IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein
UniProt ID Q9C0I4
Protein name Thrombospondin type-1 domain-containing protein 7B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF19030 TSP1_ADAMTS 44 97 Domain
PF19028 TSP1_spondin 180 232 Spondin-like TSP1 domain Domain
PF19028 TSP1_spondin 337 392 Spondin-like TSP1 domain Domain
PF19028 TSP1_spondin 602 660 Spondin-like TSP1 domain Domain
PF19030 TSP1_ADAMTS 689 738 Domain
PF19028 TSP1_spondin 738 795 Spondin-like TSP1 domain Domain
PF00090 TSP_1 1004 1055 Thrombospondin type 1 domain Domain
PF19030 TSP1_ADAMTS 1064 1126 Domain
PF00090 TSP_1 1133 1182 Thrombospondin type 1 domain Domain
PF19028 TSP1_spondin 1250 1303 Spondin-like TSP1 domain Domain
PF19028 TSP1_spondin 1373 1432 Spondin-like TSP1 domain Domain
Sequence
MFPKSNLTVTCWVWRSMRKLFLLLSLLLSHAAHLEGKKDNQFIWKPGPWGRCTGDCGPGG
VQSRAVWCFHVDGWTSHLSNCGESNRPPKERSCFRVC
DWHSDLFQWEVSDWHHCVLVPYA
RGEVKPRTAECVTAQHGLQHRMVRCIQKLNRTVVANEICEHFALQPPTEQACLIPCPRDC
VVSEFLPWSNCSKGCGKKLQHRTRAVIAPPLFGGLQCPNLTESRACDAPISC
PLGEEEYT
FSLKVGPWSKCRLPHLKEINPSGRTVLDFNSDSNERVTFKHQSYKAHHHSKSWAIEIGYQ
TRQVSCTRSDGQNAMLSLCLQDSFPLTVQSCIMPKDCETSQWSSWSPCSKTCRSGSLLPG
FRSRSRNVKHMAIGGGKECPELLEKEACIVEG
ELLQQCPRYSWRTSEWKECQVSLLLEQQ
DPHWHVTGPVCGGGIQTREVYCAQSVPAAAALRAKEVSRPVEKALCVGPAPLPSQLCNIP
CSTDCIVSSWSAWGLCIHENCHDPQGKKGFRTRQRHVLMESTGPAGHCPHLVESVPCEDP
MCYRWLASEGICFPDHGKCGLGHRILKAVCQNDRGEDVSGSLCPVPPPPERKSCEIPCRM
DCVLSEWTEWSSCSQSCSNKNSDGKQTRSRTILALAGEGGKPCPPSQALQEHRLCNDHSC
MQLHWETSPWGPCSEDTLVTALNATIGWNGEATCGVGIQTRRVFCVKSHVGQVMTKRCPD
STRPETVRPCFLPCKKD
CIVTAFSEWTPCPRMCQAGNATVKQSRYRIIIQEAANGGQECP
DTLYEERECEDVSLC
PVYRWKPQKWSPCILVPESVWQGITGSSEACGKGLQTRAVSCISD
DNRSAEMMECLKQTNGMPLLVQECTVPCREDCTFTAWSKFTPCSTNCEATKSRRRQLTGK
SRKKEKCQDSDLYPLVETELCPCDEFISQPYGNWSDCILPEGRREPHRGLRVQADSKECG
EGLRFRAVACSDKNGRPVDPSFCSSSGYIQEKCVIPCPFDCKLSDWSSWGSCSSSCGIGV
RIRSKWLKEKPYNGGRPCPKLDLKNQVHEAVPCYS
ECNQYSWVVEHWSSCKINNELRSLR
CGGGTQSRKIRCVNTADGEGGAVDSNLCNQDEIPPETQSCSLMCPN
ECVMSEWGLWSKCP
QSCDPHTMQRRTRHLLRPSLNSRTCAEDSQVQPCLLNENCFQ
FQYNLTEWSTCQLSENAP
CGQGVRTRLLSCVCSDGKPVSMDQCEQHNLEKPQRMSIPCLVECVVNCQLSGWTAWTECS
QTCGHGGRMSRTRFIIMPTQGEGRPCPTELTQEKTCPVTPCYS
WVLGNWSACKLEGGDCG
EGVQIRSLSCMVHSGSISHAAGRVEDALCGEMPFQDSILKQLCSVPCPGDCHLTEWSEWS
TCELTCIDGRSFETVGRQSRSRTFIIQSFENQDSCPQQVLETRPCTGGKCYH
YTWKASLW
NNNERTVWCQRSDGVNVTGGCSPQARPAAIRQCIPACRKPFSYCTQGGVCGCEKGYTEIM
KSNGFLDYCMKVPGSEDKKADVKNLSGKNRPVNSKIHDIFKGWSLQPLDPDGRVKIWVYG
VSGGAFLIMIFLIFTSYLVCKKPKPHQSTPPQQKPLTLAYDGDLDM
Sequence length 1606
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes Diabetes rs80356611 29703844
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
29703844
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Unknown
Disease term Disease name Evidence References Source
Pemphigus Vulgaris Pemphigus Vulgaris GWAS
Dementia Dementia GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36820582
Alcoholism Associate 31294817
Autistic Disorder Associate 31294817
COVID 19 Associate 34775353
Heroin Dependence Associate 31294817
Neoplasm Metastasis Associate 35685767
Schizophrenia Associate 31294817
Small Cell Lung Carcinoma Associate 35685767
Tobacco Use Disorder Associate 31294817