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    OSR2 odd-skipped related transciption factor 2 [ Homo sapiens (human) ]

    Gene ID: 116039, updated on 28-Oct-2024

    Summary

    Official Symbol
    OSR2provided by HGNC
    Official Full Name
    odd-skipped related transciption factor 2provided by HGNC
    Primary source
    HGNC:HGNC:15830
    See related
    Ensembl:ENSG00000164920 MIM:611297; AllianceGenome:HGNC:15830
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    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]
    Expression
    Biased expression in endometrium (RPKM 68.5), ovary (RPKM 33.5) and 8 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See OSR2 in Genome Data Viewer
    Location:
    8q22.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (98944442..98952100)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (100069165..100076821)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99956670..99964328)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase 3 Neighboring gene collagen alpha-1(I) chain-like Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19400 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19401 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19402 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19403 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:99956934-99957434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:99957435-99957935 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:99959518-99960123 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27681 Neighboring gene MPRA-validated peak7120 silencer Neighboring gene uncharacterized LOC107986872 Neighboring gene RN7SK pseudogene 85 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19405 Neighboring gene Sharpr-MPRA regulatory region 5914 Neighboring gene VPS13B divergent transcript

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Clone Names

    • FLJ90037

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in bone morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chondrocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryo development ending in birth or egg hatching ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic digit morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic forelimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic hindlimb morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal joint development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal joint morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal limb joint morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic skeletal system morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in eyelid development in camera-type eye ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in head development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in mesonephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in metanephros development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in middle ear morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in odontogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in osteoblast proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pattern specification process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of DNA-templated transcription ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of bone mineralization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell population proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of epithelial cell proliferation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of gene expression ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in pronephros development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in roof of mouth development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in stem cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in urogenital system development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    protein odd-skipped-related 2
    Names
    odd-skipped related 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142462.3NP_001135934.1  protein odd-skipped-related 2 isoform a

      See identical proteins and their annotated locations for NP_001135934.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and 5' coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (a) with a shorter N-terminus, compared to isoform c.
      Source sequence(s)
      AC016877, AK074518
      Consensus CDS
      CCDS47901.1
      UniProtKB/Swiss-Prot
      A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7
      Related
      ENSP00000297565.4, ENST00000297565.9
      Conserved Domains (3) summary
      COG5048
      Location:172307
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:174194
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl14876
      Location:18124
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    2. NM_001286841.2NP_001273770.1  protein odd-skipped-related 2 isoform c

      See identical proteins and their annotated locations for NP_001273770.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes to the longest isoform (c).
      Source sequence(s)
      AK074518, AK304654, BX101198
      Consensus CDS
      CCDS69520.1
      UniProtKB/Swiss-Prot
      Q8N2R0
      Related
      ENSP00000414657.2, ENST00000457907.3
      Conserved Domains (4) summary
      COG5048
      Location:293428
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:295315
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:377399
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:307332
      zf-H2C2_2; Zinc-finger double domain
    3. NM_001394683.1NP_001381612.1  protein odd-skipped-related 2 isoform d

      Status: VALIDATED

      Source sequence(s)
      AC016877
      Conserved Domains (4) summary
      PHA00733
      Location:116170
      PHA00733; hypothetical protein
      COG5048
      Location:148204
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:126146
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl14876
      Location:3676
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42
    4. NM_053001.4NP_443727.2  protein odd-skipped-related 2 isoform b

      See identical proteins and their annotated locations for NP_443727.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1, one of which results in a frameshift. The resulting protein (isoform b) has a shorter N-terminus and a distinct C-terminus compared to isoform c
      Source sequence(s)
      BC016936, BX101198
      Consensus CDS
      CCDS47902.1
      UniProtKB/Swiss-Prot
      Q8N2R0
      Related
      ENSP00000402862.2, ENST00000435298.6
      Conserved Domains (4) summary
      sd00017
      Location:174194
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:172194
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:186211
      zf-H2C2_2; Zinc-finger double domain
      cl14876
      Location:18124
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      98944442..98952100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250778.5XP_005250835.1  protein odd-skipped-related 2 isoform X1

      Conserved Domains (4) summary
      COG5048
      Location:317373
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:295315
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:293315
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:307332
      zf-H2C2_2; Zinc-finger double domain
    2. XM_011516825.3XP_011515127.1  protein odd-skipped-related 2 isoform X2

      Conserved Domains (4) summary
      COG5048
      Location:229364
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:231251
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:313335
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:243268
      zf-H2C2_2; Zinc-finger double domain
    3. XM_047421327.1XP_047277283.1  protein odd-skipped-related 2 isoform X5

      UniProtKB/Swiss-Prot
      A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7
      Related
      ENSP00000430780.1, ENST00000522510.5
    4. XM_047421326.1XP_047277282.1  protein odd-skipped-related 2 isoform X4

    5. XM_011516826.2XP_011515128.1  protein odd-skipped-related 2 isoform X3

      Conserved Domains (4) summary
      COG5048
      Location:225360
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:227247
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:309331
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:239264
      zf-H2C2_2; Zinc-finger double domain
    6. XM_011516827.3XP_011515129.1  protein odd-skipped-related 2 isoform X5

      See identical proteins and their annotated locations for XP_011515129.1

      UniProtKB/Swiss-Prot
      A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7
      Conserved Domains (3) summary
      COG5048
      Location:172307
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:174194
      ZF_C2H2; C2H2 Zn finger [structural motif]
      cl14876
      Location:18124
      Zinc_peptidase_like; Zinc peptidases M18, M20, M28, and M42

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      100069165..100076821
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359716.1XP_054215691.1  protein odd-skipped-related 2 isoform X1

    2. XM_054359717.1XP_054215692.1  protein odd-skipped-related 2 isoform X2

    3. XM_054359720.1XP_054215695.1  protein odd-skipped-related 2 isoform X5

      UniProtKB/Swiss-Prot
      A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7
    4. XM_054359719.1XP_054215694.1  protein odd-skipped-related 2 isoform X4

    5. XM_054359718.1XP_054215693.1  protein odd-skipped-related 2 isoform X3

    6. XM_054359721.1XP_054215696.1  protein odd-skipped-related 2 isoform X5

      UniProtKB/Swiss-Prot
      A8K626, B4E3B7, Q8N2R0, Q96AM6, Q96LB6, Q96LB7