ITGBL1 (integrin subunit beta like 1)

2015-12-01  

Identity

HGNC
LOCATION
13q33.1
LOCUSID
ALIAS
OSCP,TIED

Other Information

Locus ID:

NCBI: 9358
MIM: 604234
HGNC: 6164
Ensembl: ENSG00000198542

Variants:

dbSNP: 9358
ClinVar: 9358
TCGA: ENSG00000198542
COSMIC: ITGBL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198542ENST00000376162O95965
ENSG00000198542ENST00000376180O95965
ENSG00000198542ENST00000376180A0A024RDW7
ENSG00000198542ENST00000490242U3KPX5
ENSG00000198542ENST00000545560O95965
ENSG00000198542ENST00000618057A0A087WY35
ENSG00000198542ENST00000622834A0A087WXI7

Expression (GTEx)

0
50
100
150
200
250

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA443635Cardiovascular DiseasesDiseaseVariantAnnotationnot associatedPD24816038
PA446021Vascular DiseasesDiseaseVariantAnnotationnot associatedPD24816038
PA451089pravastatinChemicalVariantAnnotationnot associatedPD24816038

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
260600172015ITGBL1 Is a Runx2 Transcriptional Target and Promotes Breast Cancer Bone Metastasis by Activating the TGFβ Signaling Pathway.28
282626702017Characterization of gene expression profiles in HBV-related liver fibrosis patients and identification of ITGBL1 as a key regulator of fibrogenesis.15
272615882016Extracellular matrix protein ITGBL1 promotes ovarian cancer cell migration and adhesion through Wnt/PCP signaling and FAK/SRC pathway.12
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
263073932016Epigenetic downregulated ITGBL1 promotes non-small cell lung cancer cell invasion through Wnt/PCP signaling.9
297724382018ITGBL1 promotes migration, invasion and predicts a poor prognosis in colorectal cancer.4
303054542018ITGBL1 modulates integrin activity to promote cartilage formation and protect against arthritis.4
307178072019Transcriptomic expression profiling identifies ITGBL1, an epithelial to mesenchymal transition (EMT)-associated gene, is a promising recurrence prediction biomarker in colorectal cancer.4

Citation

Dessen P

ITGBL1 (integrin subunit beta like 1)

Atlas Genet Cytogenet Oncol Haematol. 2015-12-01

Online version: http://atlasgeneticsoncology.org/gene/55539/itgbl1