Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10956
Gene name Gene Name - the full gene name approved by the HGNC.
OS9 endoplasmic reticulum lectin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
OS9
Synonyms (NCBI Gene) Gene synonyms aliases
ERLEC2, OS-9
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.3-q14.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT1205769 hsa-miR-103a CLIP-seq
MIRT1205770 hsa-miR-107 CLIP-seq
MIRT1205771 hsa-miR-1179 CLIP-seq
MIRT1205772 hsa-miR-1228 CLIP-seq
MIRT1205773 hsa-miR-1287 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000836 Component Hrd1p ubiquitin ligase complex IDA 28827405
GO:0000836 Component Hrd1p ubiquitin ligase complex NAS 18502753, 19084021
GO:0002020 Function Protease binding IEA
GO:0005515 Function Protein binding IDA 18264092, 19346256
GO:0005515 Function Protein binding IPI 15721254, 18264092, 18502753, 18711132, 19706418, 20546900, 22119785, 26551274, 26972000, 28827405, 29496332, 33961781, 34591642, 35384245
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609677 16994 ENSG00000135506
Protein
UniProt ID Q13438
Protein name Protein OS-9 (Amplified in osteosarcoma 9)
Protein function Lectin component of the HRD1 complex, which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD) (PubMed:18264092, PubMed:18417469, PubMed:19084021, PubMed:19346256, PubMed:21172656, PubMed:24899641). Spec
PDB 3AIH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07915 PRKCSH 108 181 Glucosidase II beta subunit-like protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:8634085). Found as well in all tumor cell lines analyzed, amplified in sarcomas (PubMed:8634085). Highly expressed in osteosarcoma SJSA-1 and rhabdomyosarcoma Rh30 cell lines (PubMed:8634085). {ECO:000026
Sequence
MAAETLLSSLLGLLLLGLLLPASLTGGVGSLNLEELSEMRYGIEILPLPVMGGQSQSSDV
VIVSSKYKQRYECRLPAGAIHFQREREEETPAYQGPGIPELLSPMRDAPCLLKTKDWWTY
EFCYGRHIQQYHMEDSEIKGEVLYLGYYQSAFDWDDETAKASKQHRLKRYHSQTYGNGSK
C
DLNGRPREAEVRFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAA
PQAILCHPSLQPEEYMAYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGAS
PTKDDSKDSDFWKMLNEPEDQAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIR
SPADLIRFIEELKGGTKKGKPNIGQEQPVDDAAEVPQREPEKERGDPERQREMEEEEDED
EDEDEDEDERQLLGEFEKELEGILLPSDRDRLRSEVKAGMERELENIIQETEKELDPDGL
KKESERDRAMLALTSTLNKLIKRLEEKQSPELVKKHKKKRVVPKKPPPSPQPTEEDPEHR
VRVRVTKLRLGGPNQDLTVLEMKRENPQLKQIEGLVKELLEREGLTAAGKIEIKIVRPWA
EGTEEGARWLTDEDTRNLKEIFFNILVPGAEEAQKERQRQKELESNYRRVWGSPGGEGTG
DLDEFDF
Sequence length 667
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Insomnia Insomnia N/A N/A GWAS
Multiple Sclerosis Multiple sclerosis N/A N/A GWAS
Rheumatoid arthritis Rheumatoid arthritis N/A N/A GWAS
Ulcerative colitis Ulcerative colitis N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis Associate 29725981
Arthritis Gouty Associate 39511617
Breast Neoplasms Associate 40489916
Carcinoma Hepatocellular Associate 35429130
Inflammation Associate 39511617
Leukemia Myeloid Associate 9562620
Lymphoma Non Hodgkin Associate 29725981
Neoplasms Associate 9562620
Osteosarcoma Associate 10403379, 9562620
Polycythemia Associate 27651169