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Aliases for OSR1 Gene

Aliases for OSR1 Gene

  • Odd-Skipped Related Transciption Factor 1 2 3 5
  • ODD 3 4
  • Odd-Skipped Related 1 (Drosophila) 2
  • Odd-Skipped (Drosophila) Homolog 2
  • Protein Odd-Skipped-Related 1 3
  • Odd-Skipped Related 1 3
  • Odd-Skipped Homolog 3

External Ids for OSR1 Gene

Previous HGNC Symbols for OSR1 Gene

  • ODD

Previous GeneCards Identifiers for OSR1 Gene

  • GC03P037496
  • GC03P038020
  • GC03P038167
  • GC03P038182
  • GC02M019473
  • GC02M019308
  • GC02M019551

Summaries for OSR1 Gene

GeneCards Summary for OSR1 Gene

OSR1 (Odd-Skipped Related Transciption Factor 1) is a Protein Coding gene. Diseases associated with OSR1 include Hydronephrosis. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is OSR2.

UniProtKB/Swiss-Prot for OSR1 Gene

  • Transcription factor that plays a role in the regulation of embryonic heart and urogenital development.

Gene Wiki entry for OSR1 Gene

Additional gene information for OSR1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for OSR1 Gene

Genomics for OSR1 Gene

GeneHancer (GH) Regulatory Elements for OSR1 Gene

Promoters and enhancers for OSR1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J019354 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 650.7 +1.8 1751 5.2 ZBTB6 SUZ12 SIN3A KDM3A RBPJ ZNF335 E2F1 CTBP1 GATA3 POLR2A OSR1 GC02P019358 SDC1 MIR4757
GH02J019854 Enhancer 0.7 dbSUPER 10.9 -497.3 -497285 2.2 IRF2 ZNF644 TEAD3 ZNF614 CREM MIXL1 TEAD1 HLF ZHX2 CEBPB OSR1 LINC00954 CISD1P1
GH02J019137 Enhancer 1.4 FANTOM5 Ensembl ENCODE 3.4 +217.9 217888 6.3 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B NEUROD1 DMAP1 ETS1 TCF12 ENSG00000271991 OSR1 GC02P019090 GC02P019209 LINC01376
GH02J019378 Enhancer 0.3 VISTA 11.9 -20.4 -20381 1.2 MNT GC02P019379 OSR1 GC02P019428
GH02J018625 Enhancer 0.6 FANTOM5 ENCODE 4.4 +732.1 732067 2 JUND POLR2A NT5C1B NT5C1B-RDH14 RNU6-1215P OSR1 GC02M018608 GC02P018659 LOC105373456
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OSR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the OSR1 gene promoter:
  • PPAR-gamma2
  • PPAR-gamma1
  • Nkx2-5
  • CREB
  • Pax-2a
  • Pax-2
  • deltaCREB
  • USF-1

Genomic Locations for OSR1 Gene

Genomic Locations for OSR1 Gene
7,169 bases
Minus strand
7,169 bases
Minus strand

Genomic View for OSR1 Gene

Genes around OSR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OSR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OSR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OSR1 Gene

Proteins for OSR1 Gene

  • Protein details for OSR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein odd-skipped-related 1
    Protein Accession:
    Secondary Accessions:
    • B3KV97
    • D6W521

    Protein attributes for OSR1 Gene

    266 amino acids
    Molecular mass:
    29611 Da
    Quaternary structure:
    No Data Available

neXtProt entry for OSR1 Gene

Post-translational modifications for OSR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for OSR1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for OSR1 Gene

Domains & Families for OSR1 Gene

Gene Families for OSR1 Gene

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

Protein Domains for OSR1 Gene


Suggested Antigen Peptide Sequences for OSR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the Odd C2H2-type zinc-finger protein family.
  • Belongs to the Odd C2H2-type zinc-finger protein family.
genes like me logo Genes that share domains with OSR1: view

Function for OSR1 Gene

Molecular function for OSR1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that plays a role in the regulation of embryonic heart and urogenital development.
GENATLAS Biochemistry:
oxidative-stress responsive 1,homolog to the human SOK1 (Ste20/oxidant stress response kinase-1),widely expressed

Phenotypes From GWAS Catalog for OSR1 Gene

Gene Ontology (GO) - Molecular Function for OSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA --
GO:0003676 nucleic acid binding IEA --
GO:0004674 protein serine/threonine kinase activity IMP 16669787
GO:0005515 protein binding IPI 16669787
GO:0019901 protein kinase binding IPI 16669787
genes like me logo Genes that share ontologies with OSR1: view
genes like me logo Genes that share phenotypes with OSR1: view

Animal Models for OSR1 Gene

MGI Knock Outs for OSR1:
  • Osr1 Osr1<tm1Jian>
  • Osr1 Osr1<tm2.1Jian>

miRNA for OSR1 Gene

Clone Products

  • Addgene plasmids for OSR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for OSR1 Gene

Localization for OSR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for OSR1 Gene

Subcellular locations from

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 OSR1 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for OSR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005829 cytosol IEA,ISS --
GO:0019898 extrinsic component of membrane ISS,IEA --
genes like me logo Genes that share ontologies with OSR1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for OSR1 Gene

Pathways & Interactions for OSR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for OSR1 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 ISS,IEA --
GO:0001656 metanephros development IEA --
GO:0001657 ureteric bud development ISS,IEA --
GO:0001823 mesonephros development IEA,ISS --
genes like me logo Genes that share ontologies with OSR1: view

No data available for Pathways by source and SIGNOR curated interactions for OSR1 Gene

Drugs & Compounds for OSR1 Gene

No Compound Related Data Available

Transcripts for OSR1 Gene

mRNA/cDNA for OSR1 Gene

(2) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(57) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for OSR1 Gene

Odd-skipped related 1 (Drosophila):
Representative Sequences:

Clone Products

  • Addgene plasmids for OSR1

Alternative Splicing Database (ASD) splice patterns (SP) for OSR1 Gene

No ASD Table

Relevant External Links for OSR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for OSR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for OSR1 Gene

mRNA differential expression in normal tissues according to GTEx for OSR1 Gene

This gene is overexpressed in Artery - Aorta (x7.6), Bladder (x6.1), and Esophagus - Muscularis (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of OSR1 Gene:


SOURCE GeneReport for Unigene cluster for OSR1 Gene:


mRNA Expression by UniProt/SwissProt for OSR1 Gene:

Tissue specificity: Expressed in adult colon, small intestine, prostate, testis, and fetal lung.

Evidence on tissue expression from TISSUES for OSR1 Gene

  • Nervous system(4.2)
  • Pancreas(4)
genes like me logo Genes that share expression patterns with OSR1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for OSR1 Gene

Orthologs for OSR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for OSR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia OSR1 34 33
  • 99.62 (n)
(Bos Taurus)
Mammalia OSR1 34 33
  • 91.98 (n)
(Monodelphis domestica)
Mammalia OSR1 34
  • 91 (a)
(Canis familiaris)
Mammalia OSR1 34 33
  • 90.6 (n)
(Rattus norvegicus)
Mammalia Osr1 33
  • 90.6 (n)
(Mus musculus)
Mammalia Osr1 16 34 33
  • 89.85 (n)
(Gallus gallus)
Aves OSR1 34 33
  • 77.95 (n)
(Anolis carolinensis)
Reptilia OSR1 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia osr1 33
  • 74.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13607 33
(Danio rerio)
Actinopterygii osr1 34 33
  • 71.96 (n)
Dr.13499 33
fruit fly
(Drosophila melanogaster)
Insecta fray 35
  • 56 (a)
drm 34
  • 44 (a)
odd 34
  • 25 (a)
sob 34
  • 21 (a)
bowl 34
  • 15 (a)
(Caenorhabditis elegans)
Secernentea Y59A8B.23 35
  • 63 (a)
odd-2 34
  • 36 (a)
odd-1 34
  • 34 (a)
Species where no ortholog for OSR1 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)
  • 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)
  • 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 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 OSR1 Gene

Gene Tree for OSR1 (if available)
Gene Tree for OSR1 (if available)
Evolutionary constrained regions (ECRs) for OSR1: view image

Paralogs for OSR1 Gene

Paralogs for OSR1 Gene

(2) SIMAP similar genes for OSR1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with OSR1: view

Variants for OSR1 Gene

Sequence variations from dbSNP and Humsavar for OSR1 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1001345533 -- 19,356,957(-) T/C intron_variant
rs1001696742 -- 19,353,021(-) A/G intron_variant
rs1001885948 -- 19,357,545(-) GACAG/G 5_prime_UTR_variant, intron_variant
rs1001947254 -- 19,358,679(-) C/T upstream_transcript_variant
rs1001959898 -- 19,351,860(-) C/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for OSR1 Gene

Variant ID Type Subtype PubMed ID
nsv819849 CNV gain 19587683

Variation tolerance for OSR1 Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.61; 13.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OSR1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OSR1 Gene

Disorders for OSR1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for OSR1 Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
- elite association - COSMIC cancer census association via MalaCards
Search OSR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for OSR1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with OSR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for OSR1 Gene

Publications for OSR1 Gene

  1. Molecular cloning and characterization of OSR1 on human chromosome 2p24. (PMID: 12119563) Katoh M (International journal of molecular medicine 2002) 2 3 4 58
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 44 58
  3. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PMID: 18978678) Vieira AR … Marazita ML (Genetics in medicine : official journal of the American College of Medical Genetics 2008) 3 44 58
  4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for OSR1 Gene

Sources for OSR1 Gene

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