OSR2 (odd-skipped related transciption factor 2) - Rat Genome Database

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Gene: OSR2 (odd-skipped related transciption factor 2) Homo sapiens
Analyze
Symbol: OSR2
Name: odd-skipped related transciption factor 2
RGD ID: 1345615
HGNC Page HGNC
Description: Exhibits sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including animal organ development; embryonic limb morphogenesis; and regulation of transcription by RNA polymerase II. Predicted to localize to nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ90037; odd-skipped related 2; protein odd-skipped-related 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl898,944,403 - 98,952,104 (+)EnsemblGRCh38hg38GRCh38
GRCh38898,944,442 - 98,952,100 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37899,956,670 - 99,964,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,025,862 - 100,033,504 (+)NCBINCBI36hg18NCBI36
Build 348100,025,861 - 100,033,500NCBI
Celera896,142,339 - 96,150,050 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef895,159,407 - 95,167,108 (+)NCBIHuRef
CHM1_1899,997,298 - 100,004,999 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IBA,ISS)

References

Additional References at PubMed
PMID:11520675   PMID:14702039   PMID:15175245   PMID:15489334   PMID:15670784   PMID:19322201   PMID:20634891   PMID:21873635   PMID:23414517   PMID:25416956   PMID:27143812   PMID:28473536  
PMID:28986522   PMID:30385546   PMID:32296183  


Genomics

Comparative Map Data
OSR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl898,944,403 - 98,952,104 (+)EnsemblGRCh38hg38GRCh38
GRCh38898,944,442 - 98,952,100 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37899,956,670 - 99,964,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,025,862 - 100,033,504 (+)NCBINCBI36hg18NCBI36
Build 348100,025,861 - 100,033,500NCBI
Celera896,142,339 - 96,150,050 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef895,159,407 - 95,167,108 (+)NCBIHuRef
CHM1_1899,997,298 - 100,004,999 (+)NCBICHM1_1
Osr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391535,296,244 - 35,303,451 (+)NCBIGRCm39mm39
GRCm39 Ensembl1535,296,244 - 35,303,451 (+)Ensembl
GRCm381535,296,098 - 35,303,305 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1535,296,098 - 35,303,305 (+)EnsemblGRCm38mm10GRCm38
MGSCv371535,225,867 - 35,233,060 (+)NCBIGRCm37mm9NCBIm37
MGSCv361535,240,701 - 35,247,894 (+)NCBImm8
Celera1535,916,195 - 35,923,389 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1514.46NCBI
Osr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2766,487,841 - 66,495,003 (+)NCBI
Rnor_6.0 Ensembl774,047,814 - 74,055,256 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0774,047,820 - 74,055,096 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0774,213,945 - 74,221,077 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4770,769,123 - 70,776,248 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1770,789,852 - 70,796,977 (+)NCBI
Celera763,576,550 - 63,583,675 (+)NCBICelera
Cytogenetic Map7q22NCBI
Osr2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541714,502,451 - 14,510,160 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541714,502,450 - 14,510,015 (+)NCBIChiLan1.0ChiLan1.0
OSR2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1897,768,980 - 97,776,663 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl897,768,980 - 97,776,669 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0895,590,753 - 95,598,491 (+)NCBIMhudiblu_PPA_v0panPan3
OSR2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1131,019,167 - 1,031,622 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl131,023,879 - 1,031,225 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha131,014,427 - 1,026,867 (+)NCBI
ROS_Cfam_1.0131,171,210 - 1,183,651 (+)NCBI
UMICH_Zoey_3.1131,013,686 - 1,026,136 (+)NCBI
UNSW_CanFamBas_1.0131,121,661 - 1,134,096 (+)NCBI
UU_Cfam_GSD_1.0131,128,475 - 1,140,925 (+)NCBI
Osr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530336,598,337 - 36,606,291 (-)NCBI
SpeTri2.0NW_00493647044,024,497 - 44,032,429 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OSR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl437,852,587 - 37,897,935 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1437,890,200 - 37,897,935 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2440,894,623 - 40,902,347 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OSR2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1893,831,218 - 93,839,098 (+)NCBI
ChlSab1.1 Ensembl893,831,480 - 93,839,263 (+)Ensembl
Osr2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247636,035,923 - 6,043,682 (+)NCBI

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2462
Count of miRNA genes:802
Interacting mature miRNAs:924
Transcripts:ENST00000297565, ENST00000435298, ENST00000457907, ENST00000518199, ENST00000520722, ENST00000520791, ENST00000520951, ENST00000521044, ENST00000522510, ENST00000523368
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 606 643 239 26 184 9 2725 184 627 55 1312 259 26 1 1056 1553 2
Low 1756 1521 1064 214 625 72 1432 1934 386 191 139 1286 146 148 1226 4 2
Below cutoff 74 671 317 288 886 288 162 76 2323 153 7 57 1 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001142462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_053001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011516827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC016877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY038072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY038073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC016936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX101198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000297565   ⟹   ENSP00000297565
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,442 - 98,952,104 (+)Ensembl
RefSeq Acc Id: ENST00000435298   ⟹   ENSP00000402862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,458 - 98,952,100 (+)Ensembl
RefSeq Acc Id: ENST00000457907   ⟹   ENSP00000414657
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,403 - 98,952,104 (+)Ensembl
RefSeq Acc Id: ENST00000518199   ⟹   ENSP00000429910
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,948,392 - 98,949,591 (+)Ensembl
RefSeq Acc Id: ENST00000520722
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,446 - 98,949,307 (+)Ensembl
RefSeq Acc Id: ENST00000520791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,403 - 98,946,302 (+)Ensembl
RefSeq Acc Id: ENST00000520951   ⟹   ENSP00000430074
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,948,222 - 98,949,604 (+)Ensembl
RefSeq Acc Id: ENST00000521044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,456 - 98,949,321 (+)Ensembl
RefSeq Acc Id: ENST00000522510   ⟹   ENSP00000430780
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,659 - 98,951,762 (+)Ensembl
RefSeq Acc Id: ENST00000523368   ⟹   ENSP00000430041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl898,944,442 - 98,951,022 (+)Ensembl
RefSeq Acc Id: NM_001142462   ⟹   NP_001135934
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,952,100 (+)NCBI
GRCh37899,956,631 - 99,964,338 (+)NCBI
Celera896,142,339 - 96,150,050 (+)RGD
HuRef895,159,407 - 95,167,112 (+)NCBI
CHM1_1899,997,298 - 100,004,999 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286841   ⟹   NP_001273770
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,952,100 (+)NCBI
HuRef895,159,407 - 95,167,112 (+)NCBI
CHM1_1899,997,298 - 100,004,999 (+)NCBI
Sequence:
RefSeq Acc Id: NM_053001   ⟹   NP_443727
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,952,100 (+)NCBI
GRCh37899,956,631 - 99,964,338 (+)NCBI
Build 368100,025,862 - 100,033,504 (+)NCBI Archive
Celera896,142,339 - 96,150,050 (+)RGD
HuRef895,159,407 - 95,167,112 (+)NCBI
CHM1_1899,997,298 - 100,004,999 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250778   ⟹   XP_005250835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,444 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516825   ⟹   XP_011515127
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,445 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516826   ⟹   XP_011515128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,948,247 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516827   ⟹   XP_011515129
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,948,518 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013018   ⟹   XP_016868507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,948,173 - 98,952,100 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_443727   ⟸   NM_053001
- Peptide Label: isoform b
- UniProtKB: Q8N2R0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135934   ⟸   NM_001142462
- Peptide Label: isoform a
- UniProtKB: Q8N2R0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005250835   ⟸   XM_005250778
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001273770   ⟸   NM_001286841
- Peptide Label: isoform c
- UniProtKB: Q8N2R0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011515127   ⟸   XM_011516825
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011515128   ⟸   XM_011516826
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011515129   ⟸   XM_011516827
- Peptide Label: isoform X4
- UniProtKB: Q8N2R0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868507   ⟸   XM_017013018
- Peptide Label: isoform X4
- UniProtKB: Q8N2R0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000429910   ⟸   ENST00000518199
RefSeq Acc Id: ENSP00000297565   ⟸   ENST00000297565
RefSeq Acc Id: ENSP00000430074   ⟸   ENST00000520951
RefSeq Acc Id: ENSP00000414657   ⟸   ENST00000457907
RefSeq Acc Id: ENSP00000430780   ⟸   ENST00000522510
RefSeq Acc Id: ENSP00000430041   ⟸   ENST00000523368
RefSeq Acc Id: ENSP00000402862   ⟸   ENST00000435298
Protein Domains
C2H2-type

Promoters
RGD ID:7213869
Promoter ID:EPDNEW_H12681
Type:initiation region
Name:OSR2_1
Description:odd-skipped related transciption factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12682  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,944,502EPDNEW
RGD ID:7213873
Promoter ID:EPDNEW_H12682
Type:multiple initiation site
Name:OSR2_2
Description:odd-skipped related transciption factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12681  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,946,756 - 98,946,816EPDNEW
RGD ID:6806910
Promoter ID:HG_KWN:61788
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000297565,   UC003YIQ.1,   UC010MBN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368100,025,624 - 100,026,124 (+)MPROMDB
RGD ID:6813474
Promoter ID:HG_ACW:78103
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OSR2.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368100,029,464 - 100,029,964 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.2(chr8:98920719-99451919)x1 copy number loss See cases [RCV000052788] Chr8:98920719..99451919 [GRCh38]
Chr8:99932947..100464147 [GRCh37]
Chr8:100002123..100533323 [NCBI36]
Chr8:8q22.2
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.2(chr8:99816841-100523891)x1 copy number loss See cases [RCV000445667] Chr8:99816841..100523891 [GRCh37]
Chr8:8q22.2
uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001286841.1(OSR2):c.345A>C (p.Ala115=) single nucleotide variant not provided [RCV000947121] Chr8:98948934 [GRCh38]
Chr8:99961162 [GRCh37]
Chr8:8q22.2
benign
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8q22.2(chr8:99681689-100173606)x3 copy number gain not provided [RCV000849134] Chr8:99681689..100173606 [GRCh37]
Chr8:8q22.2
uncertain significance
GRCh37/hg19 8q22.2(chr8:99501354-100350153)x3 copy number gain not provided [RCV000849911] Chr8:99501354..100350153 [GRCh37]
Chr8:8q22.2
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_001286841.1(OSR2):c.753G>C (p.Pro251=) single nucleotide variant not provided [RCV000885381] Chr8:98949342 [GRCh38]
Chr8:99961570 [GRCh37]
Chr8:8q22.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15830 AgrOrtholog
COSMIC OSR2 COSMIC
Ensembl Genes ENSG00000164920 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000297565 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402862 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000414657 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000429910 UniProtKB/TrEMBL
  ENSP00000430041 UniProtKB/TrEMBL
  ENSP00000430074 UniProtKB/TrEMBL
  ENSP00000430780 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000297565 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000435298 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000457907 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000518199 UniProtKB/TrEMBL
  ENST00000520951 UniProtKB/TrEMBL
  ENST00000522510 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000523368 UniProtKB/TrEMBL
GTEx ENSG00000164920 GTEx
HGNC ID HGNC:15830 ENTREZGENE
Human Proteome Map OSR2 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:116039 UniProtKB/Swiss-Prot
NCBI Gene 116039 ENTREZGENE
OMIM 611297 OMIM
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134924513 PharmGKB
PROSITE ZINC_FINGER_C2H2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_FINGER_C2H2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57667 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt E5RGY8_HUMAN UniProtKB/TrEMBL
  E5RH04_HUMAN UniProtKB/TrEMBL
  E5RH47_HUMAN UniProtKB/TrEMBL
  OSR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A8K626 UniProtKB/Swiss-Prot
  B4E3B7 UniProtKB/Swiss-Prot
  Q96AM6 UniProtKB/Swiss-Prot
  Q96LB6 UniProtKB/Swiss-Prot
  Q96LB7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-10-22 OSR2  odd-skipped related transciption factor 2    odd-skipped related 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED
2011-09-01 OSR2  odd-skipped related 2 (Drosophila)  OSR2  odd-skipped related 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED