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] See more...

Aliases for OSR2 Gene

Aliases for OSR2 Gene

  • Odd-Skipped Related Transciption Factor 2 2 3 5
  • Protein Odd-Skipped-Related 2 3 4
  • Odd-Skipped Related 2 (Drosophila) 2
  • Odd-Skipped Related 2 3
  • FLJ90037 2
  • OSR2 5

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 Mental Retardation, X-Linked, Syndromic 13 and Cleft Palate, Isolated. 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

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OSR2 Gene

Genomics for OSR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for OSR2 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 OSR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OSR2

Top Transcription factor binding sites by QIAGEN in the OSR2 gene promoter:
  • AP-2gamma
  • ARP-1
  • Brachyury
  • C/EBPalpha
  • E47
  • Evi-1
  • Hand1
  • POU2F1
  • POU2F1a

Genomic Locations for OSR2 Gene

Genomic Locations for OSR2 Gene
chr8:98,944,403-98,952,104
(GRCh38/hg38)
Size:
7,702 bases
Orientation:
Plus strand
chr8:99,956,631-99,964,332
(GRCh37/hg19)
Size:
7,702 bases
Orientation:
Plus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OSR2 Gene

GenScript: Design optimal peptide antigens:
  • Protein odd-skipped-related 2 (OSR2_HUMAN)

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:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IBA 21873635
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:
  • Osr2 Osr2<tm1Pzg>
  • Osr2 Osr2<tm1Jian>
  • Osr2 Osr2<tm3(Osr1)Jian>
  • Osr2 Osr2<tm4(Osr2*)Jian>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSR2

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
extracellular 2
cytosol 2
plasma membrane 1
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (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

PathCards logo

SuperPathways 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:0001655 urogenital system development IBA 21873635
GO:0001656 metanephros development ISS --
GO:0001823 mesonephros development ISS --
GO:0002062 chondrocyte differentiation 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

mRNA/cDNA for OSR2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for OSR2

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

Expression for OSR2 Gene

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



Protein tissue co-expression partners for OSR2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OSR2

SOURCE GeneReport for Unigene cluster for OSR2 Gene:

Hs.253247

Evidence on tissue expression from TISSUES for OSR2 Gene

  • Kidney(4.3)
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 30 31
  • 99.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia OSR2 30 31
  • 95.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia OSR2 30 31
  • 93.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Osr2 30 17 31
  • 92.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Osr2 30
  • 92.52 (n)
Chicken
(Gallus gallus)
Aves OSR2 30 31
  • 82.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia OSR2 31
  • 63 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia osr2 30
  • 82.69 (n)
Str.10705 30
Zebrafish
(Danio rerio)
Actinopterygii osr2 30 31
  • 75.16 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ODR1 30
  • 74.64 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta drm 31
  • 51 (a)
ManyToMany
odd 31 32
  • 31 (a)
ManyToMany
sob 31 32
  • 28 (a)
ManyToMany
bowl 31 32
  • 22 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea odd-2 31 32
  • 39 (a)
ManyToMany
odd-1 31 32
  • 35 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.10104 30
Species where no ortholog for OSR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 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 OSR2 Gene

ENSEMBL:
Gene Tree for OSR2 (if available)
TreeFam:
Gene Tree for OSR2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OSR2: view image

Paralogs for OSR2 Gene

Paralogs for OSR2 Gene

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

  • OSR2_HUMAN
  • B4E3B7_HUMAN
  • E5RGY8_HUMAN
  • E5RH04_HUMAN
  • E5RH47_HUMAN
genes like me logo Genes that share paralogs with OSR2: view

Variants for OSR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OSR2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
713270 Likely Benign: not provided 98,949,342(+) G/C SYNONYMOUS_VARIANT
768250 Benign: not provided 98,948,934(+) A/C SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for OSR2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for OSR2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic 13
  • mrxs13
cleft palate, isolated
  • cpi
cleft soft palate
  • cleft velum
blepharocheilodontic syndrome 1
  • bcds1
peptic ulcer perforation
  • acute peptic ulcer with perforation
- 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
Open Targets Platform
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 41
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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 23
  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
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for OSR2 Gene

Sources for OSR2 Gene