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] See more...

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

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. Diseases associated with OS9 include Overhydrated Hereditary Stomatocytosis and Bone Cancer. Among its related pathways are Calnexin/calreticulin cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is ERLEC1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for OS9 Gene

Genomics for OS9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OS9 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OS9

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

Genomic Locations for OS9 Gene

Latest Assembly
chr12:57,693,955-57,721,557
(GRCh38/hg38)
Size:
27,603 bases
Orientation:
Plus strand

Previous Assembly
chr12:58,087,915-58,115,340
(GRCh37/hg19 by Entrez Gene)
Size:
27,426 bases
Orientation:
Plus strand

chr12:58,087,738-58,115,340
(GRCh37/hg19 by Ensembl)
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). Component of the HRD1 complex, which comprises at least SYNV1/HRD1, DERL1/2, FAM8A1, HERPUD1/HERP, OS9, SEL1L and UBE2J1. FAM8A1 is stabilized by interaction with SYNV1, which prevents its proteasomal degradation. OS9 and UBE2J1 recruitment to the complex may be mediated by SEL1L (PubMed:18502753, PubMed:18264092, PubMed:19084021, PubMed:28827405). Through this complex, may interact with ERLEC1 and HSPA5 (PubMed:18502753). Interacts with HSP90B1 (PubMed:18264092). Interacts with CREB3 (PubMed:20546900).
    Miscellaneous:
    • [Isoform 1]: Major isoform.
    • [Isoform 2]: Major isoform.

    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 Asn177, Ser529, and Thr533
  • Ubiquitination at Lys619 and Lys563
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

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 intracellular proteins
  • Transporters

Protein Domains for OS9 Gene

InterPro:
Blocks:
  • Glucosidase II beta subunit-like

Suggested Antigen Peptide Sequences for OS9 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ58173, highly similar to Protein OS-9 (A6NLB2_HUMAN)
  • cDNA FLJ58567, highly similar to Homo sapiens amplified in osteosarcoma (OS9), transcript variant 2, mRNA (B4E321_HUMAN)
  • Amplified in osteosarcoma 9 (OS9_HUMAN)
  • OS-9 protein (Q6IBL2_HUMAN)
  • OS9 protein (Q9BR60_HUMAN)

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>

Clone products for research

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
cytosol 2
lysosome 2
golgi apparatus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endosome 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 --
GO:0005788 endoplasmic reticulum lumen IBA,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

SIGNOR curated interactions for OS9 Gene

Activates:
Is activated by:

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

Drugs & Compounds for OS9 Gene

No Compound Related Data Available

Transcripts for OS9 Gene

mRNA/cDNA for OS9 Gene

8 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
23 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone products for research

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

Expression for OS9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.9)
  • Liver(4.7)
  • Kidney(4.6)
  • Lung(4.5)
  • Intestine(4.3)
  • Spleen(4.1)
  • Skin(4.1)
  • Eye(3.3)
  • Blood(3.2)
  • Pancreas(2.8)
  • Heart(2.7)
  • Lymph node(2.4)
  • Stomach(2.4)
  • Bone(2.4)
  • Bone marrow(2.3)
genes like me logo Genes that share expression patterns with OS9: view

Primer products for research

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 29 30
  • 99.75 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OS9 29 30
  • 90.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OS9 29 30
  • 88.36 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Os9 29
  • 84.26 (n)
Mouse
(Mus musculus)
Mammalia Os9 29 16 30
  • 83.28 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia OS9 30
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia OS9 30
  • 66 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OS9 30
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia os9 29
  • 57.58 (n)
Str.46 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.19223 29
Zebrafish
(Danio rerio)
Actinopterygii os9 29 30
  • 55.44 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F48E8.4 30
  • 12 (a)
OneToOne
Species where no ortholog for OS9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for OS9

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OS9 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs114532828 Benign: not provided 57,696,268(+) T/C
NM_006812.4(OS9):c.481-7T>C
INTRON
rs34299538 Benign: not provided 57,694,302(+) G/A
NM_006812.4(OS9):c.141G>A (p.Pro47=)
SYNONYMOUS
rs34764811 Benign: not provided 57,718,372(+) C/Tp.Ser454Leu
NM_006812.4(OS9):c.1361C>T (p.Ser454Leu)
MISSENSE
rs547241583 Uncertain Significance: not provided 57,718,274(+) GGATGAGGATGAA/G
NM_006812.4(OS9):c.1264_1275GATGAGGATGAA[1] (p.418_419DE[4])
INFRAME_DELETION
rs141986192 -- p.Asp305Asn

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for OS9 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
OS9

SNP Genotyping and Copy Number Assays for research

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

Disorders for OS9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for OS9 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
overhydrated hereditary stomatocytosis
  • ohst
bone cancer
  • bone neoplasm
rhabdomyosarcoma
- elite association - COSMIC cancer census association via MalaCards
Search OS9 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OS9

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with OS9: view

No data available for 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
  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
  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
  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
  5. Conserved cytoplasmic domains promote Hrd1 ubiquitin ligase complex formation for ER-associated degradation (ERAD). (PMID: 28827405) Schulz J … Christianson JC (Journal of cell science 2017) 3 4

Products for OS9 Gene