Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	10956
Gene name	OS9 endoplasmic reticulum lectin
Gene symbol	OS9
Synonyms (NCBI Gene)	ERLEC2OS-9
Chromosome	12
Chromosome location	12q13.3-q14.1
Summary	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

199

Show/Hide all (199)

miRTarBase ID	miRNA	Experiments
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
MIRT1205774	hsa-miR-1294	CLIP-seq
MIRT1205775	hsa-miR-1538	CLIP-seq
MIRT1205776	hsa-miR-218	CLIP-seq
MIRT1205777	hsa-miR-2682	CLIP-seq
MIRT1205778	hsa-miR-3135b	CLIP-seq
MIRT1205779	hsa-miR-3689d	CLIP-seq
MIRT1205780	hsa-miR-377	CLIP-seq
MIRT1205781	hsa-miR-3977	CLIP-seq
MIRT1205782	hsa-miR-4257	CLIP-seq
MIRT1205783	hsa-miR-4268	CLIP-seq
MIRT1205784	hsa-miR-4310	CLIP-seq
MIRT1205785	hsa-miR-4420	CLIP-seq
MIRT1205786	hsa-miR-4433	CLIP-seq
MIRT1205787	hsa-miR-4459	CLIP-seq
MIRT1205788	hsa-miR-4493	CLIP-seq
MIRT1205789	hsa-miR-449c	CLIP-seq
MIRT1205790	hsa-miR-4658	CLIP-seq
MIRT1205791	hsa-miR-4693-3p	CLIP-seq
MIRT1205792	hsa-miR-4710	CLIP-seq
MIRT1205793	hsa-miR-4719	CLIP-seq
MIRT1205794	hsa-miR-4745-3p	CLIP-seq
MIRT1205795	hsa-miR-4747-3p	CLIP-seq
MIRT1205796	hsa-miR-4758-5p	CLIP-seq
MIRT1205797	hsa-miR-4761-5p	CLIP-seq
MIRT1205798	hsa-miR-4765	CLIP-seq
MIRT1205799	hsa-miR-4768-3p	CLIP-seq
MIRT1205800	hsa-miR-4783-3p	CLIP-seq
MIRT1205801	hsa-miR-5096	CLIP-seq
MIRT1205802	hsa-miR-513a-5p	CLIP-seq
MIRT1205803	hsa-miR-513c	CLIP-seq
MIRT1205804	hsa-miR-514b-5p	CLIP-seq
MIRT1205805	hsa-miR-541	CLIP-seq
MIRT1205806	hsa-miR-654-5p	CLIP-seq
MIRT1205807	hsa-miR-940	CLIP-seq
MIRT1205769	hsa-miR-103a	CLIP-seq
MIRT1205770	hsa-miR-107	CLIP-seq
MIRT1205771	hsa-miR-1179	CLIP-seq
MIRT1205772	hsa-miR-1228	CLIP-seq
MIRT1205808	hsa-miR-1266	CLIP-seq
MIRT1205809	hsa-miR-15a	CLIP-seq
MIRT1205810	hsa-miR-15b	CLIP-seq
MIRT1205811	hsa-miR-16	CLIP-seq
MIRT1205812	hsa-miR-1909	CLIP-seq
MIRT1205813	hsa-miR-1915	CLIP-seq
MIRT1205814	hsa-miR-195	CLIP-seq
MIRT1205815	hsa-miR-214	CLIP-seq
MIRT1205816	hsa-miR-219-5p	CLIP-seq
MIRT1205817	hsa-miR-3150a-3p	CLIP-seq
MIRT1205818	hsa-miR-3175	CLIP-seq
MIRT1205819	hsa-miR-3619-5p	CLIP-seq
MIRT1205780	hsa-miR-377	CLIP-seq
MIRT1205781	hsa-miR-3977	CLIP-seq
MIRT1205820	hsa-miR-424	CLIP-seq
MIRT1205784	hsa-miR-4310	CLIP-seq
MIRT1205785	hsa-miR-4420	CLIP-seq
MIRT1205821	hsa-miR-4445	CLIP-seq
MIRT1205822	hsa-miR-4518	CLIP-seq
MIRT1205823	hsa-miR-4685-5p	CLIP-seq
MIRT1205824	hsa-miR-4688	CLIP-seq
MIRT1205825	hsa-miR-4782-3p	CLIP-seq
MIRT1205826	hsa-miR-486-3p	CLIP-seq
MIRT1205827	hsa-miR-491-5p	CLIP-seq
MIRT1205828	hsa-miR-497	CLIP-seq
MIRT1205829	hsa-miR-508-3p	CLIP-seq
MIRT1205801	hsa-miR-5096	CLIP-seq
MIRT1205805	hsa-miR-541	CLIP-seq
MIRT1205806	hsa-miR-654-5p	CLIP-seq
MIRT1205830	hsa-miR-761	CLIP-seq
MIRT1205831	hsa-miR-939	CLIP-seq
MIRT1205832	hsa-miR-142-3p	CLIP-seq
MIRT1205833	hsa-miR-3179	CLIP-seq
MIRT1205834	hsa-miR-4255	CLIP-seq
MIRT1205835	hsa-miR-4280	CLIP-seq
MIRT1205836	hsa-miR-4320	CLIP-seq
MIRT1205837	hsa-miR-455-3p	CLIP-seq
MIRT1205838	hsa-miR-4676-5p	CLIP-seq
MIRT1205839	hsa-miR-4782-5p	CLIP-seq
MIRT1205840	hsa-miR-575	CLIP-seq
MIRT1205841	hsa-miR-665	CLIP-seq
MIRT1205816	hsa-miR-219-5p	CLIP-seq
MIRT1205821	hsa-miR-4445	CLIP-seq
MIRT1205825	hsa-miR-4782-3p	CLIP-seq
MIRT1205829	hsa-miR-508-3p	CLIP-seq
MIRT1205771	hsa-miR-1179	CLIP-seq
MIRT2287610	hsa-miR-1238	CLIP-seq
MIRT1205813	hsa-miR-1915	CLIP-seq
MIRT2287611	hsa-miR-296-5p	CLIP-seq
MIRT2287612	hsa-miR-3612	CLIP-seq
MIRT2287613	hsa-miR-3918	CLIP-seq
MIRT2287614	hsa-miR-3925-3p	CLIP-seq
MIRT1205782	hsa-miR-4257	CLIP-seq
MIRT1205783	hsa-miR-4268	CLIP-seq
MIRT1205784	hsa-miR-4310	CLIP-seq
MIRT1205836	hsa-miR-4320	CLIP-seq
MIRT1205788	hsa-miR-4493	CLIP-seq
MIRT1205837	hsa-miR-455-3p	CLIP-seq
MIRT1205838	hsa-miR-4676-5p	CLIP-seq
MIRT1205823	hsa-miR-4685-5p	CLIP-seq
MIRT1205839	hsa-miR-4782-5p	CLIP-seq
MIRT1205802	hsa-miR-513a-5p	CLIP-seq
MIRT2287615	hsa-miR-545	CLIP-seq
MIRT1205840	hsa-miR-575	CLIP-seq
MIRT2287616	hsa-miR-650	CLIP-seq
MIRT1205841	hsa-miR-665	CLIP-seq
MIRT2287617	hsa-miR-766	CLIP-seq
MIRT2585610	hsa-miR-1178	CLIP-seq
MIRT2585611	hsa-miR-148a	CLIP-seq
MIRT2585612	hsa-miR-148b	CLIP-seq
MIRT2585613	hsa-miR-152	CLIP-seq
MIRT1205815	hsa-miR-214	CLIP-seq
MIRT1205777	hsa-miR-2682	CLIP-seq
MIRT2585614	hsa-miR-2861	CLIP-seq
MIRT2585615	hsa-miR-3125	CLIP-seq
MIRT2585616	hsa-miR-3145-5p	CLIP-seq
MIRT2585617	hsa-miR-3150b-3p	CLIP-seq
MIRT2585618	hsa-miR-34c-3p	CLIP-seq
MIRT1205819	hsa-miR-3619-5p	CLIP-seq
MIRT2585619	hsa-miR-3665	CLIP-seq
MIRT2585620	hsa-miR-3916	CLIP-seq
MIRT2287614	hsa-miR-3925-3p	CLIP-seq
MIRT2585621	hsa-miR-4278	CLIP-seq
MIRT2585622	hsa-miR-4290	CLIP-seq
MIRT2585623	hsa-miR-4327	CLIP-seq
MIRT2585624	hsa-miR-4436b-3p	CLIP-seq
MIRT2585625	hsa-miR-4447	CLIP-seq
MIRT2585626	hsa-miR-4472	CLIP-seq
MIRT2585627	hsa-miR-4488	CLIP-seq
MIRT1205789	hsa-miR-449c	CLIP-seq
MIRT2585628	hsa-miR-4639-5p	CLIP-seq
MIRT1205790	hsa-miR-4658	CLIP-seq
MIRT2585629	hsa-miR-4697-5p	CLIP-seq
MIRT2585630	hsa-miR-4722-3p	CLIP-seq
MIRT2585631	hsa-miR-4736	CLIP-seq
MIRT1205796	hsa-miR-4758-5p	CLIP-seq
MIRT2585632	hsa-miR-4763-5p	CLIP-seq
MIRT2585633	hsa-miR-4784	CLIP-seq
MIRT2585634	hsa-miR-499-3p	CLIP-seq
MIRT2585635	hsa-miR-499a-3p	CLIP-seq
MIRT2585636	hsa-miR-515-3p	CLIP-seq
MIRT2585637	hsa-miR-519e	CLIP-seq
MIRT2585638	hsa-miR-548ad	CLIP-seq
MIRT2585639	hsa-miR-550a	CLIP-seq
MIRT2585640	hsa-miR-595	CLIP-seq
MIRT1205830	hsa-miR-761	CLIP-seq
MIRT2287617	hsa-miR-766	CLIP-seq
MIRT1205807	hsa-miR-940	CLIP-seq
MIRT2585610	hsa-miR-1178	CLIP-seq
MIRT2686870	hsa-miR-1224-3p	CLIP-seq
MIRT2585611	hsa-miR-148a	CLIP-seq
MIRT2585612	hsa-miR-148b	CLIP-seq
MIRT2585613	hsa-miR-152	CLIP-seq
MIRT1205815	hsa-miR-214	CLIP-seq
MIRT1205777	hsa-miR-2682	CLIP-seq
MIRT2585614	hsa-miR-2861	CLIP-seq
MIRT2585615	hsa-miR-3125	CLIP-seq
MIRT2585616	hsa-miR-3145-5p	CLIP-seq
MIRT2585617	hsa-miR-3150b-3p	CLIP-seq
MIRT2585618	hsa-miR-34c-3p	CLIP-seq
MIRT1205819	hsa-miR-3619-5p	CLIP-seq
MIRT2585619	hsa-miR-3665	CLIP-seq
MIRT2686871	hsa-miR-371b-5p	CLIP-seq
MIRT2585620	hsa-miR-3916	CLIP-seq
MIRT2287614	hsa-miR-3925-3p	CLIP-seq
MIRT2585621	hsa-miR-4278	CLIP-seq
MIRT2585622	hsa-miR-4290	CLIP-seq
MIRT2585623	hsa-miR-4327	CLIP-seq
MIRT2585624	hsa-miR-4436b-3p	CLIP-seq
MIRT2585625	hsa-miR-4447	CLIP-seq
MIRT2585626	hsa-miR-4472	CLIP-seq
MIRT2585627	hsa-miR-4488	CLIP-seq
MIRT1205789	hsa-miR-449c	CLIP-seq
MIRT2585628	hsa-miR-4639-5p	CLIP-seq
MIRT1205790	hsa-miR-4658	CLIP-seq
MIRT2686872	hsa-miR-4667-3p	CLIP-seq
MIRT2686873	hsa-miR-4684-5p	CLIP-seq
MIRT2585629	hsa-miR-4697-5p	CLIP-seq
MIRT2585630	hsa-miR-4722-3p	CLIP-seq
MIRT2585631	hsa-miR-4736	CLIP-seq
MIRT1205796	hsa-miR-4758-5p	CLIP-seq
MIRT2585632	hsa-miR-4763-5p	CLIP-seq
MIRT1205798	hsa-miR-4765	CLIP-seq
MIRT2585633	hsa-miR-4784	CLIP-seq
MIRT2585634	hsa-miR-499-3p	CLIP-seq
MIRT2585635	hsa-miR-499a-3p	CLIP-seq
MIRT2686874	hsa-miR-502-5p	CLIP-seq
MIRT2585636	hsa-miR-515-3p	CLIP-seq
MIRT2585637	hsa-miR-519e	CLIP-seq
MIRT2585638	hsa-miR-548ad	CLIP-seq
MIRT2585639	hsa-miR-550a	CLIP-seq
MIRT2585640	hsa-miR-595	CLIP-seq
MIRT1205830	hsa-miR-761	CLIP-seq
MIRT2287617	hsa-miR-766	CLIP-seq
MIRT2686875	hsa-miR-888	CLIP-seq
MIRT1205807	hsa-miR-940	CLIP-seq

Show/Hide all (25)

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
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	18264092, 18417469, 19084021
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IMP	19084021
GO:0006605	Process	Protein targeting	IEA
GO:0006621	Process	Protein retention in ER lumen	IDA	18417469
GO:0008104	Process	Intracellular protein localization	IEA
GO:0016567	Process	Protein ubiquitination	IMP	19084021
GO:0030246	Function	Carbohydrate binding	IEA
GO:0030968	Process	Endoplasmic reticulum unfolded protein response	IEA
GO:0030970	Process	Retrograde protein transport, ER to cytosol	IBA
GO:0034976	Process	Response to endoplasmic reticulum stress	IDA	19084021
GO:0036503	Process	ERAD pathway	IDA	24899641
GO:0036503	Process	ERAD pathway	IEA
GO:0036503	Process	ERAD pathway	IMP	18264092, 18417469, 19346256
GO:0140032	Function	Glycosylation-dependent protein binding	IDA	24899641
GO:1904153	Process	Negative regulation of retrograde protein transport, ER to cytosol	IMP	25660456

MIM	HGNC	e!Ensembl
609677	16994	ENSG00000135506

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
CDLNGRPREAEVRFLCDEGAGISGDYIDRVDEPLSCSYVLTIRTPRLCPHPLLRPPPSAA
PQAILCHPSLQPEEYMAYVQRQADSKQYGDKIIEELQDLGPQVWSETKSGVAPQKMAGAS
PTKDDSKDSDFWKMLNEPEDQAPGGEEVPAEEQDPSPEAADSASGAPNDFQNNVQVKVIR
SPADLIRFIEELKGGTKKGKPNIGQEQPVDDAAEVPQREPEKERGDPERQREMEEEEDED
EDEDEDEDERQLLGEFEKELEGILLPSDRDRLRSEVKAGMERELENIIQETEKELDPDGL
KKESERDRAMLALTSTLNKLIKRLEEKQSPELVKKHKKKRVVPKKPPPSPQPTEEDPEHR
VRVRVTKLRLGGPNQDLTVLEMKRENPQLKQIEGLVKELLEREGLTAAGKIEIKIVRPWA
EGTEEGARWLTDEDTRNLKEIFFNILVPGAEEAQKERQRQKELESNYRRVWGSPGGEGTG
DLDEFDF

Sequence length

667

Interactions

View interactions

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)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (15)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29725981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Gouty	Gouty arthritis	Pubtator	39511617	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	40489916	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35429130	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	9562620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12747754		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	10403379, 9562620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	27651169	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Alveolar	Rhabdomyosarcoma	Pubtator	24551291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma Embryonal	Rhabdomyosarcoma	Pubtator	24551291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	24390342, 24532676, 30423114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	24390342		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	9498564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	9498564, 9562620	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	40345896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

OS9 (OS9 endoplasmic reticulum lectin)