full name
thrombospondin type 1 domain containing 7B

synonyms
THSD7B, ENSG00000144229

HGNC
HGNC:29348

Entrez Gene
Gene:80731

ENSEMBL
ENSG00000144229

location
chr: 2
start: 137639718
stop: 138435287
strand: +

transcripts
NM_001080427.1

pathways
Defective B3GALTL causes Peters-plus syndrome (PpS) [NCBI:1383054] [REACTOME:R-HSA-5083635] [PUBMED:25544610] [PUBMED:18720094]
Disease [NCBI:1268854] [REACTOME:R-HSA-1643685]
Diseases associated with O-glycosylation of proteins [NCBI:1383049] [REACTOME:R-HSA-3906995] [PUBMED:24051442] [PUBMED:24507773]
Diseases of glycosylation [NCBI:1269010] [REACTOME:R-HSA-3781865] [PUBMED:22983739] [PUBMED:12756558] [PUBMED:22343051] [PUBMED:6543331] [PUBMED:16755287] [PUBMED:19765534] [PUBMED:12409504] [PUBMED:22838182] [PUBMED:2301971] [PUBMED:21384229]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
O-glycosylation of TSR domain-containing proteins [NCBI:1268735] [REACTOME:R-HSA-5173214] [PUBMED:12096136] [PUBMED:17395589] [PUBMED:22722607] [PUBMED:10842357] [PUBMED:16464858] [PUBMED:11067851] [PUBMED:17395588]
O-linked glycosylation [NCBI:1268734] [REACTOME:R-HSA-5173105] [PUBMED:9673446] [PUBMED:22722607]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]