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:15830
Description: Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in several processes, including embryonic limb morphogenesis; kidney development; and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of stem cell proliferation. Predicted to be active in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously 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
GRCh38898,944,442 - 98,952,100 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl898,944,403 - 98,952,104 (+)EnsemblGRCh38hg38GRCh38
GRCh37899,956,670 - 99,964,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,025,862 - 100,033,504 (+)NCBINCBI36Build 36hg18NCBI36
Build 348100,025,861 - 100,033,500NCBI
Celera896,142,339 - 96,150,050 (+)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef895,159,407 - 95,167,108 (+)NCBIHuRef
CHM1_1899,997,298 - 100,004,995 (+)NCBICHM1_1
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldrin  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
Azaspiracid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
carbamazepine  (EXP)
choline  (ISO)
cisplatin  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dinophysistoxin 1  (EXP)
ethyl methanesulfonate  (EXP)
folic acid  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
methyl methanesulfonate  (EXP)
methylarsonic acid  (ISO)
methylisothiazolinone  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
perfluorooctanoic acid  (EXP)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
bone morphogenesis  (IEA,ISS)
cell differentiation  (IEA,ISS)
cell population proliferation  (IEA,ISO)
chondrocyte differentiation  (IEA,ISS)
embryo development ending in birth or egg hatching  (IEA,ISS)
embryonic digit morphogenesis  (IEA,ISS)
embryonic forelimb morphogenesis  (IEA,ISS)
embryonic hindlimb morphogenesis  (IEA,ISS)
embryonic skeletal joint development  (IEA,ISS)
embryonic skeletal joint morphogenesis  (IEA,ISS)
embryonic skeletal limb joint morphogenesis  (IEA,ISS)
embryonic skeletal system morphogenesis  (IEA,ISO,ISS)
eyelid development in camera-type eye  (IEA,ISS)
head development  (IEA,ISS)
mesonephros development  (IEA,ISS)
metanephros development  (IEA,ISS)
middle ear morphogenesis  (IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IEA,ISS)
odontogenesis  (IEA,ISS)
osteoblast proliferation  (IEA,ISS)
positive regulation of bone mineralization  (IEA,ISS)
positive regulation of cell population proliferation  (ISS)
positive regulation of DNA-templated transcription  (IEA,ISS)
positive regulation of epithelial cell proliferation  (IEA,ISS)
positive regulation of gastrulation  (ISO)
positive regulation of gene expression  (IEA,ISS)
positive regulation of stem cell proliferation  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISS)
pronephros development  (ISO)
regulation of transcription by RNA polymerase II  (IBA)
roof of mouth development  (IEA,ISS)
stem cell proliferation  (IEA,ISO)
urogenital system development  (IBA)

Cellular Component
nucleus  (IBA,IEA,ISS)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
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   PMID:33711044   PMID:33961781  


Genomics

Comparative Map Data
OSR2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38898,944,442 - 98,952,100 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl898,944,403 - 98,952,104 (+)EnsemblGRCh38hg38GRCh38
GRCh37899,956,670 - 99,964,328 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368100,025,862 - 100,033,504 (+)NCBINCBI36Build 36hg18NCBI36
Build 348100,025,861 - 100,033,500NCBI
Celera896,142,339 - 96,150,050 (+)NCBICelera
Cytogenetic Map8q22.2NCBI
HuRef895,159,407 - 95,167,108 (+)NCBIHuRef
CHM1_1899,997,298 - 100,004,995 (+)NCBICHM1_1
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)NCBIT2T-CHM13v2.0
Osr2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391535,296,244 - 35,303,451 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1535,296,244 - 35,303,451 (+)EnsemblGRCm39 Ensembl
GRCm381535,296,098 - 35,303,305 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1535,296,098 - 35,303,305 (+)EnsemblGRCm38mm10GRCm38
MGSCv371535,225,867 - 35,233,060 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361535,240,701 - 35,247,894 (+)NCBIMGSCv36mm8
Celera1535,916,195 - 35,923,389 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
cM Map1514.46NCBI
Osr2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8768,372,500 - 68,380,195 (+)NCBIGRCr8
mRatBN7.2766,487,841 - 66,495,003 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl766,487,839 - 66,495,224 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx768,376,405 - 68,383,532 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0770,579,039 - 70,586,164 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0770,446,883 - 70,454,008 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0774,047,820 - 74,055,096 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl774,047,814 - 74,055,256 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0774,213,945 - 74,221,077 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4770,769,123 - 70,776,248 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v27116,295,551 - 116,303,223 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1891,837,037 - 91,844,694 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0895,590,753 - 95,598,491 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1897,768,980 - 97,776,663 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl897,768,980 - 97,776,669 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0131,171,210 - 1,183,651 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl131,176,087 - 1,183,648 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1131,013,686 - 1,026,136 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0131,121,661 - 1,134,096 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0131,128,475 - 1,140,925 (+)NCBIUU_Cfam_GSD_1.0
Osr2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530336,598,337 - 36,606,291 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647044,024,439 - 44,032,429 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647044,024,497 - 44,032,429 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
OSR2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl437,890,203 - 37,897,929 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1893,831,218 - 93,839,098 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl893,831,480 - 93,839,263 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603946,882,598 - 46,890,563 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Osr2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247636,035,953 - 6,043,437 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247636,035,923 - 6,043,682 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in OSR2
7 total Variants

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 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 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_001142462.3(OSR2):c.-19A>C 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_001142462.3(OSR2):c.390G>C (p.Pro130=) single nucleotide variant not provided [RCV000885381] Chr8:98949342 [GRCh38]
Chr8:99961570 [GRCh37]
Chr8:8q22.2		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q22.2(chr8:99834003-100199851) copy number gain not specified [RCV002053787] Chr8:99834003..100199851 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_99135566)_(100205305_?)dup duplication Cohen syndrome [RCV001980003] Chr8:99135566..100205305 [GRCh37]
Chr8:8q22.2		 uncertain significance
NC_000008.10:g.(?_99135566)_(106815766_?)dup duplication Cohen syndrome [RCV001997398] Chr8:99135566..106815766 [GRCh37]
Chr8:8q22.2-23.1		 uncertain significance
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
NC_000008.10:g.(?_98358247)_(106815766_?)dup duplication not provided [RCV003122777] Chr8:98358247..106815766 [GRCh37]
Chr8:8q22.1-23.1		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q22.2(chr8:99132556-100021840)x3 copy number gain not provided [RCV002473675] Chr8:99132556..100021840 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3 copy number gain not provided [RCV002474526] Chr8:79409349..119040631 [GRCh37]
Chr8:8q21.12-24.11		 pathogenic
NM_001142462.3(OSR2):c.313G>A (p.Val105Ile) single nucleotide variant Inborn genetic diseases [RCV002945665] Chr8:98949265 [GRCh38]
Chr8:99961493 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q22.2(chr8:99681017-100059441)x3 copy number gain not provided [RCV002475535] Chr8:99681017..100059441 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001142462.3(OSR2):c.245G>A (p.Arg82His) single nucleotide variant Inborn genetic diseases [RCV002683348] Chr8:98949197 [GRCh38]
Chr8:99961425 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001142462.3(OSR2):c.404A>G (p.Asp135Gly) single nucleotide variant Inborn genetic diseases [RCV002783120] Chr8:98949356 [GRCh38]
Chr8:99961584 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001142462.3(OSR2):c.902G>A (p.Arg301Gln) single nucleotide variant Inborn genetic diseases [RCV002830889] Chr8:98951664 [GRCh38]
Chr8:99963892 [GRCh37]
Chr8:8q22.2		 uncertain significance
NM_001142462.3(OSR2):c.257C>A (p.Pro86Gln) single nucleotide variant Inborn genetic diseases [RCV002854718] Chr8:98949209 [GRCh38]
Chr8:99961437 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3 copy number gain not provided [RCV003484742] Chr8:79046933..102008860 [GRCh37]
Chr8:8q21.12-22.3		 pathogenic
GRCh37/hg19 8q22.2(chr8:99696998-100138056)x1 copy number loss not provided [RCV003483034] Chr8:99696998..100138056 [GRCh37]
Chr8:8q22.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
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_001394683 (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
  XM_047421326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359719 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359721 (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
  CP068270 (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
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,944,442 - 98,952,100 (+)Ensembl
RefSeq Acc Id: ENST00000435298   ⟹   ENSP00000402862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,944,458 - 98,952,100 (+)Ensembl
RefSeq Acc Id: ENST00000457907   ⟹   ENSP00000414657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,944,403 - 98,952,104 (+)Ensembl
RefSeq Acc Id: ENST00000518199   ⟹   ENSP00000429910
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,948,392 - 98,949,591 (+)Ensembl
RefSeq Acc Id: ENST00000520722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,944,446 - 98,949,307 (+)Ensembl
RefSeq Acc Id: ENST00000520791
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,944,403 - 98,946,302 (+)Ensembl
RefSeq Acc Id: ENST00000520951   ⟹   ENSP00000430074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,948,222 - 98,949,604 (+)Ensembl
RefSeq Acc Id: ENST00000521044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,944,456 - 98,949,321 (+)Ensembl
RefSeq Acc Id: ENST00000522510   ⟹   ENSP00000430780
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl898,944,659 - 98,951,762 (+)Ensembl
RefSeq Acc Id: ENST00000523368   ⟹   ENSP00000430041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 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
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)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
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001394683   ⟹   NP_001381612
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,952,100 (+)NCBI
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)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
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005250778   ⟹   XP_005250835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516825   ⟹   XP_011515127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516826   ⟹   XP_011515128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,948,247 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011516827   ⟹   XP_011515129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,948,517 - 98,952,100 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421326   ⟹   XP_047277282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,948,237 - 98,952,100 (+)NCBI
RefSeq Acc Id: XM_047421327   ⟹   XP_047277283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38898,944,442 - 98,952,100 (+)NCBI
RefSeq Acc Id: XM_054359716   ⟹   XP_054215691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)NCBI
RefSeq Acc Id: XM_054359717   ⟹   XP_054215692
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)NCBI
RefSeq Acc Id: XM_054359718   ⟹   XP_054215693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08100,072,970 - 100,076,821 (+)NCBI
RefSeq Acc Id: XM_054359719   ⟹   XP_054215694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08100,072,960 - 100,076,821 (+)NCBI
RefSeq Acc Id: XM_054359720   ⟹   XP_054215695
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08100,069,165 - 100,076,821 (+)NCBI
RefSeq Acc Id: XM_054359721   ⟹   XP_054215696
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08100,073,240 - 100,076,821 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001135934 (Get FASTA)   NCBI Sequence Viewer  
  NP_001273770 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381612 (Get FASTA)   NCBI Sequence Viewer  
  NP_443727 (Get FASTA)   NCBI Sequence Viewer  
  XP_005250835 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515127 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515128 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515129 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277282 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277283 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215691 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215692 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215693 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215694 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215695 (Get FASTA)   NCBI Sequence Viewer  
  XP_054215696 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH16936 (Get FASTA)   NCBI Sequence Viewer  
  AAK74066 (Get FASTA)   NCBI Sequence Viewer  
  AAK74067 (Get FASTA)   NCBI Sequence Viewer  
  BAC11035 (Get FASTA)   NCBI Sequence Viewer  
  BAF84180 (Get FASTA)   NCBI Sequence Viewer  
  BAG65429 (Get FASTA)   NCBI Sequence Viewer  
  EAW91784 (Get FASTA)   NCBI Sequence Viewer  
  EAW91785 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000297565
  ENSP00000297565.4
  ENSP00000402862
  ENSP00000402862.2
  ENSP00000414657
  ENSP00000414657.2
  ENSP00000429910.1
  ENSP00000430041.1
  ENSP00000430074.1
  ENSP00000430780
  ENSP00000430780.1
GenBank Protein Q8N2R0 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein 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: Q96LB6 (UniProtKB/Swiss-Prot),   Q96AM6 (UniProtKB/Swiss-Prot),   B4E3B7 (UniProtKB/Swiss-Prot),   A8K626 (UniProtKB/Swiss-Prot),   Q96LB7 (UniProtKB/Swiss-Prot),   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 X5
- UniProtKB: Q96LB6 (UniProtKB/Swiss-Prot),   Q96AM6 (UniProtKB/Swiss-Prot),   B4E3B7 (UniProtKB/Swiss-Prot),   A8K626 (UniProtKB/Swiss-Prot),   Q96LB7 (UniProtKB/Swiss-Prot),   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
RefSeq Acc Id: NP_001381612   ⟸   NM_001394683
- Peptide Label: isoform d
RefSeq Acc Id: XP_047277283   ⟸   XM_047421327
- Peptide Label: isoform X5
- UniProtKB: Q96LB6 (UniProtKB/Swiss-Prot),   Q96AM6 (UniProtKB/Swiss-Prot),   Q8N2R0 (UniProtKB/Swiss-Prot),   B4E3B7 (UniProtKB/Swiss-Prot),   A8K626 (UniProtKB/Swiss-Prot),   Q96LB7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277282   ⟸   XM_047421326
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054215691   ⟸   XM_054359716
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054215692   ⟸   XM_054359717
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054215695   ⟸   XM_054359720
- Peptide Label: isoform X5
- UniProtKB: Q96LB6 (UniProtKB/Swiss-Prot),   Q96AM6 (UniProtKB/Swiss-Prot),   Q8N2R0 (UniProtKB/Swiss-Prot),   B4E3B7 (UniProtKB/Swiss-Prot),   A8K626 (UniProtKB/Swiss-Prot),   Q96LB7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054215694   ⟸   XM_054359719
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054215693   ⟸   XM_054359718
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054215696   ⟸   XM_054359721
- Peptide Label: isoform X5
- UniProtKB: Q96LB6 (UniProtKB/Swiss-Prot),   Q96AM6 (UniProtKB/Swiss-Prot),   Q8N2R0 (UniProtKB/Swiss-Prot),   B4E3B7 (UniProtKB/Swiss-Prot),   A8K626 (UniProtKB/Swiss-Prot),   Q96LB7 (UniProtKB/Swiss-Prot)
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N2R0-F1-model_v2 AlphaFold Q8N2R0 1-312 view protein structure

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

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 Transcript ENST00000297565 ENTREZGENE
  ENST00000297565.9 UniProtKB/Swiss-Prot
  ENST00000435298 ENTREZGENE
  ENST00000435298.6 UniProtKB/Swiss-Prot
  ENST00000457907 ENTREZGENE
  ENST00000457907.3 UniProtKB/Swiss-Prot
  ENST00000518199.1 UniProtKB/TrEMBL
  ENST00000520951.1 UniProtKB/TrEMBL
  ENST00000522510 ENTREZGENE
  ENST00000522510.5 UniProtKB/Swiss-Prot
  ENST00000523368.5 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, 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
PANTHER ODD-SKIPPED - RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN ODD-SKIPPED-RELATED 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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 A8K626 ENTREZGENE
  B4E3B7 ENTREZGENE
  E5RGY8_HUMAN UniProtKB/TrEMBL
  E5RH04_HUMAN UniProtKB/TrEMBL
  E5RH47_HUMAN UniProtKB/TrEMBL
  OSR2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q96AM6 ENTREZGENE
  Q96LB6 ENTREZGENE
  Q96LB7 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  OSR2  odd-skipped related 2 (Drosophila)  Symbol and/or name change 5135510 APPROVED