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Aliases for OS9 Gene

Aliases for OS9 Gene

  • OS9, Endoplasmic Reticulum Lectin 2 3 5
  • Osteosarcoma Amplified 9, Endoplasmic Reticulum Lectin 2 3
  • Endoplasmic Reticulum Lectin 2 2 3
  • Amplified In Osteosarcoma 9 3 4
  • Erlectin 2 2 3
  • Osteosarcoma Amplified 9, Endoplasmic Reticulum Associated Protein 3
  • Protein OS-9 3
  • ERLEC2 3
  • OS-9 3

External Ids for OS9 Gene

Previous GeneCards Identifiers for OS9 Gene

  • GC12P056375
  • GC12P058088
  • GC12P055124

Summaries for OS9 Gene

Entrez Gene Summary for OS9 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 transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for OS9 Gene

OS9 (OS9, Endoplasmic Reticulum Lectin) is a Protein Coding gene. Among its related pathways are Calnexin/calreticulin cycle and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is ERLEC1.

UniProtKB/Swiss-Prot for OS9 Gene

  • Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins, retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4.

Gene Wiki entry for OS9 Gene

Additional gene information for OS9 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OS9 Gene

Genomics for OS9 Gene

GeneHancer (GH) Regulatory Elements for OS9 Gene

Promoters and enhancers for OS9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J057693 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.3 280 1.8 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A ZNF2 IRF4 YY1 OS9 NEMP1 SLC26A10 ZBTB39 ATP23 PRIM1 CDK4 ENSG00000224713 ENSG00000257342
GH12J057109 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 30.3 -582.7 -582701 3.8 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 MCM3 STAT6 NEMP1 EEF1AKMT3 ENSG00000257740 BAZ2A PAN2 SMARCC2 CDK4 ANKRD52 DTX3
GH12J057429 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 30.9 -263.1 -263107 3.5 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 R3HDM2 ENSG00000258001 BAZ2A NEMP1 MBD6 RN7SL809P CTDSP2 CDK4 OS9 EEF1AKMT3
GH12J057516 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.3 -172.9 -172866 8.8 CLOCK FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 MBD6 MIR616 ENSG00000285133 DDIT3 NEMP1 BAZ2A RN7SL809P ZBTB39 EEF1AKMT3 DTX3
GH12J056748 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 19.7 -943.0 -942996 4.1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 POLR2B ZNF213 E2F8 ZNF143 PRIM1 HSD17B6 BAZ2A MBD6 NEMP1 RN7SL809P CDK2 ZC3H10 TMEM198B DNAJC14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OS9 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OS9 gene promoter:
  • AML1a
  • C/EBPalpha
  • LCR-F1
  • MZF-1
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • NF-Y

Genomic Locations for OS9 Gene

Genomic Locations for OS9 Gene
chr12:57,693,955-57,721,557
(GRCh38/hg38)
Size:
27,603 bases
Orientation:
Plus strand
chr12:58,087,738-58,115,340
(GRCh37/hg19)
Size:
27,603 bases
Orientation:
Plus strand

Genomic View for OS9 Gene

Genes around OS9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OS9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OS9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OS9 Gene

Proteins for OS9 Gene

  • Protein details for OS9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13438-OS9_HUMAN
    Recommended name:
    Protein OS-9
    Protein Accession:
    Q13438
    Secondary Accessions:
    • A6NDD1
    • A6NFR7
    • A6NLB2
    • A8K5Q9
    • B4DE28
    • B4DPX1
    • B4E1I6
    • E7ENT8
    • E7EW91
    • F8VUH2
    • G3XA88
    • O00579
    • Q6IBL2
    • Q8IZ58
    • Q9BW99

    Protein attributes for OS9 Gene

    Size:
    667 amino acids
    Molecular mass:
    75562 Da
    Quaternary structure:
    • Interacts (via C-terminus) with CPNE6 (via second C2 domain); this interaction occurs in a calcium-dependent manner in vitro (By similarity). Probably part of the HRD1 ubiquitin ligase complex composed at least of SYVN1/HRD1 and SEL1L with which it interacts directly (PubMed:18502753, PubMed:18264092, PubMed:19084021). Through this complex it may interact with ERLEC1 and HSPA5 (PubMed:18502753). Interacts with DERL2 (PubMed:19084021). Interacts with HSP90B1 (PubMed:18264092). Interacts with CREB3 (PubMed:20546900). Interacts with SYVN1 (PubMed:18264092).

    Three dimensional structures from OCA and Proteopedia for OS9 Gene

    Alternative splice isoforms for OS9 Gene

neXtProt entry for OS9 Gene

Post-translational modifications for OS9 Gene

  • Intramolecular disulfide bonds.
  • Isoform 1 and isoform 2 are N-glycosylated.
  • Glycosylation at isoforms=4533, isoforms=4529, and isoforms=2, 3, 4, 7, 8177
  • Ubiquitination at isoforms=2, 3, 4, 5, 6, 7, 8619 and Lys563
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OS9 Gene

Domains & Families for OS9 Gene

Gene Families for OS9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins
  • Transporters

Protein Domains for OS9 Gene

Graphical View of Domain Structure for InterPro Entry

Q13438

UniProtKB/Swiss-Prot:

OS9_HUMAN :
  • Belongs to the OS-9 family.
Family:
  • Belongs to the OS-9 family.
genes like me logo Genes that share domains with OS9: view

Function for OS9 Gene

Molecular function for OS9 Gene

UniProtKB/Swiss-Prot Function:
Lectin which functions in endoplasmic reticulum (ER) quality control and ER-associated degradation (ERAD). May bind terminally misfolded non-glycosylated proteins as well as improperly folded glycoproteins, retain them in the ER, and possibly transfer them to the ubiquitination machinery and promote their degradation. Possible targets include TRPV4.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to endoplasmic reticulum stress (at protein level).
GENATLAS Biochemistry:
homogeneously staining-region encoded sequence OS9,from an osteosarcoma-cell line,with three isoforms,coamplified with CDK4,PRIM1,SAS in osteosarcoma

Phenotypes From GWAS Catalog for OS9 Gene

Gene Ontology (GO) - Molecular Function for OS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0005515 protein binding IDA,IPI 15721254
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with OS9: view
genes like me logo Genes that share phenotypes with OS9: view

Animal Models for OS9 Gene

MGI Knock Outs for OS9:
  • Os9 Os9<tm1a(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OS9 Gene

Localization for OS9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OS9 Gene

Endoplasmic reticulum lumen.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OS9 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000836 Hrd1p ubiquitin ligase complex NAS 18502753
GO:0005783 endoplasmic reticulum IDA,IEA --
GO:0005788 endoplasmic reticulum lumen IEA,IDA 18264092
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0044322 endoplasmic reticulum quality control compartment IEA --
genes like me logo Genes that share ontologies with OS9: view

Pathways & Interactions for OS9 Gene

genes like me logo Genes that share pathways with OS9: view

Pathways by source for OS9 Gene

Gene Ontology (GO) - Biological Process for OS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006511 ubiquitin-dependent protein catabolic process IMP 19084021
GO:0006605 protein targeting IEA --
GO:0006621 protein retention in ER lumen IDA 18417469
GO:0016567 protein ubiquitination IMP 19084021
GO:0030433 ubiquitin-dependent ERAD pathway IMP 18264092
genes like me logo Genes that share ontologies with OS9: view

No data available for SIGNOR curated interactions for OS9 Gene

Drugs & Compounds for OS9 Gene

No Compound Related Data Available

Transcripts for OS9 Gene

Unigene Clusters for OS9 Gene

Osteosarcoma amplified 9, endoplasmic reticulum lectin:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OS9 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b · 8c · 8d ^ 9a · 9b · 9c ^ 10a · 10b ·
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: -
SP5: - - - - - - - - - - - - - - - - - - - -
SP6: - - - - -
SP7: - - - -
SP8:
SP9: - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - -
SP11: - - - - - - - - - -
SP12: -
SP13: - - - - - - - - - - - - - - - - -
SP14: - - - - - - - - - - - - - - -
SP15:
SP16:
SP17:
SP18:
SP19: -
SP20: - - - - - - - - - -
SP21: - -
SP22: - - - - - - - - - -
SP23: - - - -
SP24: - - - - - - - - - - -
SP25:
SP26:

ExUns: 10c ^ 11a · 11b · 11c ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a · 17b · 17c · 17d ^ 18a · 18b ^ 19 ^ 20a · 20b · 20c
SP1: - -
SP2: -
SP3: -
SP4: - -
SP5: -
SP6:
SP7:
SP8: -
SP9: - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11:
SP12:
SP13: - - - -
SP14: - - -
SP15: -
SP16:
SP17: - - - -
SP18: - - -
SP19:
SP20:
SP21:
SP22:
SP23:
SP24:
SP25: - -
SP26: -

Relevant External Links for OS9 Gene

GeneLoc Exon Structure for
OS9
ECgene alternative splicing isoforms for
OS9

Expression for OS9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OS9 Gene

Protein differential expression in normal tissues from HIPED for OS9 Gene

This gene is overexpressed in Pancreas (13.7), Breast (13.4), and Placenta (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for OS9 Gene



Protein tissue co-expression partners for OS9 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OS9 Gene:

OS9

SOURCE GeneReport for Unigene cluster for OS9 Gene:

Hs.527861

mRNA Expression by UniProt/SwissProt for OS9 Gene:

Q13438-OS9_HUMAN
Tissue specificity: Ubiquitously expressed. Found as well in all tumor cell lines analyzed, amplified in sarcomas. Highly expressed in osteosarcoma SJSA-1 and rhabdomyosarcoma Rh30 cell lines. Isoform 2 is the major isoform detected in all cell types examined.

Evidence on tissue expression from TISSUES for OS9 Gene

  • Nervous system(5)
  • Muscle(4.8)
  • Liver(4.7)
  • Kidney(4.5)
  • Lung(4.4)
  • Intestine(4.1)
  • Spleen(4)
  • Skin(3.8)
  • Eye(3.1)
  • Blood(2.7)
  • Stomach(2.4)
  • Pancreas(2.3)
  • Heart(2.2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with OS9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for OS9 Gene

Orthologs for OS9 Gene

This gene was present in the common ancestor of animals.

Orthologs for OS9 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OS9 34 33
  • 99.75 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OS9 34 33
  • 90.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OS9 34 33
  • 88.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Os9 33
  • 84.26 (n)
mouse
(Mus musculus)
Mammalia Os9 16 34 33
  • 83.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OS9 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OS9 34
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OS9 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia os9 33
  • 57.58 (n)
Str.46 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19223 33
zebrafish
(Danio rerio)
Actinopterygii os9 34 33
  • 55.44 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F48E8.4 34
  • 12 (a)
OneToOne
Species where no ortholog for OS9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OS9 Gene

ENSEMBL:
Gene Tree for OS9 (if available)
TreeFam:
Gene Tree for OS9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OS9: view image

Paralogs for OS9 Gene

Paralogs for OS9 Gene

(1) SIMAP similar genes for OS9 Gene using alignment to 8 proteins:

  • OS9_HUMAN
  • B4E321_HUMAN
  • F8VWQ2_HUMAN
  • F8VZI7_HUMAN
  • F8W0R2_HUMAN
  • F8W1N0_HUMAN
  • F8W1V2_HUMAN
  • Q9BR60_HUMAN
genes like me logo Genes that share paralogs with OS9: view

Variants for OS9 Gene

Sequence variations from dbSNP and Humsavar for OS9 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000093469 -- 57,713,546(+) C/T intron_variant
rs1000138920 -- 57,695,768(+) T/G intron_variant
rs1000192750 -- 57,704,240(+) A/G intron_variant
rs1000308820 -- 57,705,424(+) C/A intron_variant
rs1000417600 -- 57,699,355(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for OS9 Gene

Variant ID Type Subtype PubMed ID
nsv470296 CNV loss 18288195
nsv482992 CNV gain+loss 15286789
nsv508676 CNV deletion 20534489
nsv559045 CNV loss 21841781

Variation tolerance for OS9 Gene

Residual Variation Intolerance Score: 9.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.01; 49.96% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OS9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OS9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OS9 Gene

Disorders for OS9 Gene

Additional Disease Information for OS9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for OS9 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for OS9 Gene

Publications for OS9 Gene

  1. Human OS-9, a lectin required for glycoprotein endoplasmic reticulum-associated degradation, recognizes mannose-trimmed N-glycans. (PMID: 19346256) Hosokawa N … Nagata K (The Journal of biological chemistry 2009) 2 3 4 58
  2. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PMID: 18264092) Christianson JC … Kopito RR (Nature cell biology 2008) 2 3 4 58
  3. Genomic organization of the OS-9 gene amplified in human sarcomas. (PMID: 9498564) Kimura Y … Yamada M (Journal of biochemistry 1997) 2 3 4 58
  4. Complete sequence analysis of a gene (OS-9) ubiquitously expressed in human tissues and amplified in sarcomas. (PMID: 8634085) Su YA … Meltzer PS (Molecular carcinogenesis 1996) 2 3 4 58
  5. OS9 Protein Interacts with Na-K-2Cl Co-transporter (NKCC2) and Targets Its Immature Form for the Endoplasmic Reticulum-associated Degradation Pathway. (PMID: 26721884) Seaayfan E … Laghmani K (The Journal of biological chemistry 2016) 2 3 58

Products for OS9 Gene

Sources for OS9 Gene