Gene Gene information from NCBI Gene database.
Entrez ID 9358
Gene name Integrin subunit beta like 1
Gene symbol ITGBL1
Synonyms (NCBI Gene)
OSCPTIED
Chromosome 13
Chromosome location 13q33.1
Summary This gene encodes a beta integrin-related protein that is a member of the EGF-like protein family. The encoded protein contains integrin-like cysteine-rich repeats. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 201
miRNA miRNA information provided by mirtarbase database.
156
miRTarBase ID miRNA Experiments Reference
MIRT021246 hsa-miR-146a-5p Microarray 18057241
MIRT702628 hsa-miR-33b-5p HITS-CLIP 23313552
MIRT702627 hsa-miR-33a-5p HITS-CLIP 23313552
MIRT702626 hsa-miR-382-3p HITS-CLIP 23313552
MIRT702625 hsa-miR-20a-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0005178 Function Integrin binding IBA
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0005925 Component Focal adhesion IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604234 6164 ENSG00000198542
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95965
Protein name Integrin beta-like protein 1 (Osteoblast-specific cysteine-rich protein) (Ten integrin EGF-like repeat domain-containing protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07974 EGF_2 96 126 EGF-like domain Domain
PF07974 EGF_2 185 216 EGF-like domain Domain
PF07974 EGF_2 276 310 EGF-like domain Domain
PF07974 EGF_2 368 398 EGF-like domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in many tissues, but readily detectable only in aorta. {ECO:0000269|PubMed:10051402}.
Sequence
MRPPGFRNFLLLASSLLFAGLSAVPQSFSPSLRSWPGAACRLSRAESERRCRAPGQPPGA
ALCHGRGRCDCGVCICHVTEPGMFFGPLCECHEWVCETYDGSTCAGHGKCDCGKCKCDQG
WYGDAC
QYPTNCDLTKKKSNQMCKNSQDIICSNAGTCHCGRCKCDNSDGSGLVYGKFCEC
DDRECIDDETEEICGGHGKCYCGNCYCKAGWHGDKCEFQCDITPWESKRRCTSPDGKICS
NRGTCVCGECTCHDVDPTGDWGDIHGDTCECDERDCRAVYDRYSDDFCSGHGQCNCGRCD
CKAGWYGKKC
EHPQSCTLSAEESIRKCQGSSDLPCSGRGKCECGKCTCYPPGDRRVYGKT
CECDDRRCEDLDGVVCGGHGTCSCGRCVCERGWFGKLCQHPRKCNMTEEQSKNLCESADG
ILCSGKGSCHCGKCICSAEEWYISGEFCDCDDRDCDKHDGLICTGNGICSCGNCECWDGW
NGNACEIWLGSEYP
Sequence length 494
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    RUNX2 regulates genes involved in cell migration
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis BEFREE 30305454
★☆☆☆☆
Found in Text Mining only
Benign Prostatic Hyperplasia Benign Prostatic Hyperplasia BEFREE 29285211
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26060017
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36046013 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31683459
★☆☆☆☆
Found in Text Mining only
Cartilage Diseases Cartilage Diseases BEFREE 30305454
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29772438, 30717807
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 30717807 Associate
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 34409913 Associate
★☆☆☆☆
Found in Text Mining only
Fibrosis, Liver Liver Fibrosis BEFREE 28262670
★☆☆☆☆
Found in Text Mining only