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Aliases for OSR2 Gene

Aliases for OSR2 Gene

  • Odd-Skipped Related Transciption Factor 2 2 3 5
  • Odd-Skipped Related 2 (Drosophila) 2

External Ids for OSR2 Gene

Previous GeneCards Identifiers for OSR2 Gene

  • GC08P098965
  • GC08P100030
  • GC08P099625
  • GC08P099913
  • GC08P099908
  • GC08P100025
  • GC08P095159
  • GC08P099956
  • GC08P098944

Summaries for OSR2 Gene

Entrez Gene Summary for OSR2 Gene

  • OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]

GeneCards Summary for OSR2 Gene

OSR2 (Odd-Skipped Related Transciption Factor 2) is a Protein Coding gene. Diseases associated with OSR2 include Orofacial Cleft. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and sequence-specific DNA binding. An important paralog of this gene is OSR1.

Gene Wiki entry for OSR2 Gene

Additional gene information for OSR2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSR2 Gene

Genomics for OSR2 Gene

GeneHancer (GH) Regulatory Elements for OSR2 Gene

Promoters and enhancers for OSR2 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
GH08I098939 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.9 +7.4 7382 12.9 PKNOX1 FOXA2 ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B POLR2B ZNF766 OSR2 STK3 ENSG00000271930 VPS13B ENSG00000245970 POP1 ENSG00000229625
GH08I098937 Enhancer 0.6 ENCODE dbSUPER 550.8 -0.4 -387 0.2 GATA3 EZH2 OSR2 STK3 RN7SKP85
GH08I099011 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.6 +75.2 75225 2.9 HDGF HNRNPUL1 PKNOX1 SMAD1 ARNT ARID4B NEUROD1 SIN3A DMAP1 ZNF2 VPS13B LOC105375666 ENSG00000245970 RPL30 OSR2 ENSG00000271930 POP1 ENSG00000253562
GH08I098973 Enhancer 0.8 Ensembl ENCODE 12.3 +36.0 35951 1.7 CTCF MAX EBF1 RAD21 FOXA1 ZNF143 ZBTB33 EMSY MAFK EZH2 STK3 OSR2 LOC105375666 VPS13B GC08P098985 ENSG00000229625
GH08I098983 Enhancer 0.7 ENCODE 12.3 +45.4 45384 0.2 PKNOX1 CLOCK JUN NEUROD1 BMI1 ZBTB40 RFX5 CTBP1 ARID3A GATA3 STK3 OSR2 LOC105375666 VPS13B GC08P098985 ENSG00000229625
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around OSR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSR2 gene promoter:

Genomic Locations for OSR2 Gene

Genomic Locations for OSR2 Gene
chr8:98,938,104-98,952,110
(GRCh38/hg38)
Size:
14,007 bases
Orientation:
Plus strand
chr8:99,956,631-99,964,332
(GRCh37/hg19)

Genomic View for OSR2 Gene

Genes around OSR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSR2 Gene

Proteins for OSR2 Gene

  • Protein details for OSR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2R0-OSR2_HUMAN
    Recommended name:
    Protein odd-skipped-related 2
    Protein Accession:
    Q8N2R0
    Secondary Accessions:
    • A8K626
    • B4E3B7
    • Q96AM6
    • Q96LB6
    • Q96LB7

    Protein attributes for OSR2 Gene

    Size:
    312 amino acids
    Molecular mass:
    35513 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for OSR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OSR2 Gene

Post-translational modifications for OSR2 Gene

No Post-translational modifications

No data available for DME Specific Peptides for OSR2 Gene

Domains & Families for OSR2 Gene

Gene Families for OSR2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for OSR2 Gene

Suggested Antigen Peptide Sequences for OSR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N2R0

UniProtKB/Swiss-Prot:

OSR2_HUMAN :
  • Belongs to the Odd C2H2-type zinc-finger protein family.
Family:
  • Belongs to the Odd C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with OSR2: view

Function for OSR2 Gene

Gene Ontology (GO) - Molecular Function for OSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0043565 sequence-specific DNA binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with OSR2: view
genes like me logo Genes that share phenotypes with OSR2: view

Animal Models for OSR2 Gene

MGI Knock Outs for OSR2:

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for OSR2 Gene

Localization for OSR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSR2 Gene

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 OSR2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
genes like me logo Genes that share ontologies with OSR2: view

Pathways & Interactions for OSR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II ISS --
GO:0001656 metanephros development ISS --
GO:0001823 mesonephros development ISS --
GO:0002062 chondrocyte differentiation ISS --
GO:0008284 positive regulation of cell proliferation ISS --
genes like me logo Genes that share ontologies with OSR2: view

No data available for Pathways by source and SIGNOR curated interactions for OSR2 Gene

Drugs & Compounds for OSR2 Gene

No Compound Related Data Available

Transcripts for OSR2 Gene

Unigene Clusters for OSR2 Gene

Odd-skipped related 2 (Drosophila):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for OSR2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for OSR2 Gene

GeneLoc Exon Structure for
OSR2
ECgene alternative splicing isoforms for
OSR2

Expression for OSR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for OSR2 Gene

This gene is overexpressed in Uterus (x7.3), Fallopian Tube (x6.9), Cervix - Ectocervix (x6.6), and Cervix - Endocervix (x5.4).

Protein differential expression in normal tissues from HIPED for OSR2 Gene

This gene is overexpressed in Plasma (47.7) and Adipocyte (21.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for OSR2 Gene



Protein tissue co-expression partners for OSR2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of OSR2 Gene:

OSR2

SOURCE GeneReport for Unigene cluster for OSR2 Gene:

Hs.253247

Evidence on tissue expression from TISSUES for OSR2 Gene

  • Kidney(4.2)
genes like me logo Genes that share expression patterns with OSR2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSR2 Gene

Orthologs for OSR2 Gene

This gene was present in the common ancestor of animals.

Orthologs for OSR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OSR2 33 34
  • 99.54 (n)
dog
(Canis familiaris)
Mammalia OSR2 33 34
  • 95.62 (n)
cow
(Bos Taurus)
Mammalia OSR2 33 34
  • 93.12 (n)
mouse
(Mus musculus)
Mammalia Osr2 33 16 34
  • 92.52 (n)
rat
(Rattus norvegicus)
Mammalia Osr2 33
  • 92.52 (n)
chicken
(Gallus gallus)
Aves OSR2 34 33
  • 82.75 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OSR2 34
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia osr2 33
  • 82.69 (n)
Str.10705 33
zebrafish
(Danio rerio)
Actinopterygii osr2 33 34
  • 75.16 (n)
fruit fly
(Drosophila melanogaster)
Insecta sob 35 34
  • 87 (a)
bowl 35 34
  • 82 (a)
odd 35 34
  • 78 (a)
drm 34
  • 51 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta ODR1 33
  • 74.64 (n)
worm
(Caenorhabditis elegans)
Secernentea odd-2 35 34
  • 81 (a)
odd-1 35 34
  • 60 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10104 33
Species where no ortholog for OSR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 OSR2 Gene

ENSEMBL:
Gene Tree for OSR2 (if available)
TreeFam:
Gene Tree for OSR2 (if available)

Paralogs for OSR2 Gene

Paralogs for OSR2 Gene

(449) SIMAP similar genes for OSR2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with OSR2: view

Variants for OSR2 Gene

Sequence variations from dbSNP and Humsavar for OSR2 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000129398 -- 98,944,489(+) C/G 5_prime_UTR_variant, genic_upstream_transcript_variant
rs1000315856 -- 98,947,909(+) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000368330 -- 98,948,117(+) C/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000467525 -- 98,942,977(+) G/A upstream_transcript_variant
rs1000914058 -- 98,942,882(+) A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for OSR2 Gene

Variant ID Type Subtype PubMed ID
esv3891446 CNV gain 25118596
nsv611809 CNV loss 21841781
nsv6327 CNV deletion 18451855

Variation tolerance for OSR2 Gene

Residual Variation Intolerance Score: 40.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.65; 31.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSR2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
OSR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSR2 Gene

Disorders for OSR2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSR2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
orofacial cleft
- elite association - COSMIC cancer census association via MalaCards
Search OSR2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OSR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OSR2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OSR2 Gene

Publications for OSR2 Gene

  1. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Odd-skipped related 2 (Osr2) encodes a key intrinsic regulator of secondary palate growth and morphogenesis. (PMID: 15175245) Lan Y … Jiang R (Development (Cambridge, England) 2004) 3 22 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Detection of OSR2, VAV3, and PPFIA3 Methylation in the Serum of Patients with Gastric Cancer. (PMID: 27143812) Li WH … Chang DM (Disease markers 2016) 3 58

Products for OSR2 Gene

Sources for OSR2 Gene

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