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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 Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and HIV Life Cycle. GO annotations related to this gene include carbohydrate binding and glycoprotein 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

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

Genomics for OS9 Gene

Regulatory Elements for OS9 Gene

Enhancers for OS9 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G057608 1.2 ENCODE dbSUPER 5.4 -83.3 -83316 3.7 HDGF ARID4B DMAP1 ZNF48 GLIS2 SP3 SP5 MXD4 ZNF592 KAT8 ENSG00000224713 TSFM ARHGEF25 OS9 EEF1AKMT3 PIP4K2C SLC26A10
GH12G057233 1.2 ENCODE dbSUPER 4.6 -459.0 -459046 2.7 AGO1 ZNF48 YY1 GLIS2 KLF7 PAF1 ZNF263 SP3 SP5 ZNF623 MIR1228 EEF1AKMT3 OS9 ENSG00000276727 NDUFA4L2
GH12G057793 1.1 FANTOM5 ENCODE 1.9 +100.1 100148 1.5 JUN FOSL1 ZNF121 CTBP1 GATA3 GATA2 FOSL2 FOS SMARCE1 STAT1 TSFM EEF1AKMT3 MIR26A2 METTL1 CYP27B1 DDIT3 OS9 ENSG00000270039
GH12G057693 1.1 ENCODE 0.7 +0.3 281 1.8 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 SLC26A10 NEMP1 OS9 ENSG00000257342
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around OS9 on UCSC Golden Path with GeneCards custom track

Promoters for OS9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000052695 145 1401 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9

Genomic Location for OS9 Gene

Chromosome:
12
Start:
57,693,955 bp from pter
End:
57,721,557 bp from pter
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.
  • Ubiquitination at posLast=563563 and posLast=619619
  • Glycosylation at Asn177, Ser529, and posLast=533533
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for OS9 Gene

Domains & Families for OS9 Gene

Gene Families for OS9 Gene

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

GENATLAS Biochemistry:
homogeneously staining-region encoded sequence OS9,from an osteosarcoma-cell line,with three isoforms,coamplified with CDK4,PRIM1,SAS in osteosarcoma
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).

Gene Ontology (GO) - Molecular Function for OS9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001948 glycoprotein binding IDA 18264092
GO:0002020 protease binding IEA --
GO:0005515 protein binding 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 tm1a(EUCOMM)Wtsi

Animal Model Products

CRISPR Products

miRNA for OS9 Gene

miRTarBase miRNAs that target OS9

Inhibitory RNA 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

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 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:0006605 protein targeting IEA --
GO:0006621 protein retention in ER lumen IDA 18417469
GO:0016567 protein ubiquitination IMP 19084021
GO:0030433 ER-associated ubiquitin-dependent protein catabolic process IMP 18264092
GO:0034976 response to endoplasmic reticulum stress IDA 19084021
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:

CRISPR Products

Inhibitory RNA 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, PaxDb, 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

Primer Products

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 35
  • 99.75 (n)
cow
(Bos Taurus)
Mammalia OS9 34 35
  • 90.64 (n)
dog
(Canis familiaris)
Mammalia OS9 34 35
  • 88.36 (n)
rat
(Rattus norvegicus)
Mammalia Os9 34
  • 84.26 (n)
mouse
(Mus musculus)
Mammalia Os9 34 16 35
  • 83.28 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OS9 35
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia OS9 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OS9 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia os9 34
  • 57.58 (n)
Str.46 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.19223 34
zebrafish
(Danio rerio)
Actinopterygii os9 34 35
  • 55.44 (n)
worm
(Caenorhabditis elegans)
Secernentea F48E8.4 35
  • 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)

Paralogs for OS9 Gene

Paralogs for OS9 Gene

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

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 Sequence Context AA Info Type
rs1000093469 -- 57,713,546(+) TGGGG(C/T)TGAGT intron-variant
rs1000138920 -- 57,695,768(+) TATTT(G/T)TTAAT intron-variant
rs1000192750 -- 57,704,240(+) TATGT(A/G)TAAAA intron-variant
rs1000308820 -- 57,705,424(+) AGATA(A/C)CTTAT intron-variant
rs1000417600 -- 57,699,355(+) TATGG(A/T)TGAAA 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)

Relevant External Links for OS9 Gene

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

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

Disorders for OS9 Gene

Relevant External Links for OS9

Genetic Association Database (GAD)
OS9
Human Genome Epidemiology (HuGE) Navigator
OS9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
OS9

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. (J. Biol. Chem. 2009) 2 3 4 64
  2. OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD. (PMID: 18264092) Christianson J.C. … Kopito R.R. (Nat. Cell Biol. 2008) 2 3 4 64
  3. Genomic organization of the OS-9 gene amplified in human sarcomas. (PMID: 9498564) Kimura Y. … Yamada M. (J. Biochem. 1997) 2 3 4 64
  4. Complete sequence analysis of a gene (OS-9) ubiquitously expressed in human tissues and amplified in sarcomas. (PMID: 8634085) Su Y.A. … Meltzer P.S. (Mol. Carcinog. 1996) 2 3 4 64
  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. (J. Biol. Chem. 2016) 2 3 64

Products for OS9 Gene

Sources for OS9 Gene

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