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

Gene ID: 116039, updated on 13-Mar-2020

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
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

Genomic context

See OSR2 in Genome Data Viewer
Location:
8q22.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (98944403..98952104)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (99956631..99964338)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase 3 Neighboring gene uncharacterized LOC112268016 Neighboring gene RN7SK pseudogene 85 Neighboring gene uncharacterized LOC107986872 Neighboring gene ubiquitin-conjugating enzyme E2 variant 1 pseudogene Neighboring gene VPS13B divergent transcript

Genomic regions, transcripts, and products

Expression

  • Project title: 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

Homology

Clone Names

  • FLJ90037

Gene Ontology Provided by GOA

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

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
    Q8N2R0
    Related
    ENSP00000297565.4, ENST00000297565.8
    Conserved Domains (4) summary
    COG5048
    Location:172307
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:174194
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:256278
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:186211
    zf-H2C2_2; Zinc-finger double domain
  2. NM_001286841.1NP_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_053001.3NP_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)
    AK074518, BC016936, BX101198
    Consensus CDS
    CCDS47902.1
    UniProtKB/Swiss-Prot
    Q8N2R0
    Related
    ENSP00000402862.2, ENST00000435298.6
    Conserved Domains (2) summary
    sd00017
    Location:174194
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam13465
    Location:214237
    zf-H2C2_2; Zinc-finger double domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    98944403..98952104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005250778.4XP_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_011516825.2XP_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_017013018.1XP_016868507.1  protein odd-skipped-related 2 isoform X4

    UniProtKB/Swiss-Prot
    Q8N2R0
    Related
    ENSP00000430780.1, ENST00000522510.5
    Conserved Domains (4) summary
    COG5048
    Location:172307
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:174194
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:256278
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:186211
    zf-H2C2_2; Zinc-finger double domain
  4. 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
  5. XM_011516827.2XP_011515129.1  protein odd-skipped-related 2 isoform X4

    See identical proteins and their annotated locations for XP_011515129.1

    UniProtKB/Swiss-Prot
    Q8N2R0
    Conserved Domains (4) summary
    COG5048
    Location:172307
    COG5048; FOG: Zn-finger [General function prediction only]
    sd00017
    Location:174194
    ZF_C2H2; C2H2 Zn finger [structural motif]
    pfam00096
    Location:256278
    zf-C2H2; Zinc finger, C2H2 type
    pfam13465
    Location:186211
    zf-H2C2_2; Zinc-finger double domain
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