SGO2 (shugoshin 2) - Rat Genome Database

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Gene: SGO2 (shugoshin 2) Homo sapiens
Analyze
Symbol: SGO2
Name: shugoshin 2
RGD ID: 1318224
HGNC Page HGNC:30812
Description: Predicted to be involved in meiotic sister chromatid cohesion. Predicted to act upstream of or within several processes, including meiotic nuclear division; meiotic sister chromatid cohesion; and positive regulation of maintenance of meiotic sister chromatid cohesion, centromeric. Located in chromosome, centromeric region and nuclear body. Part of mitotic cohesin complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ25211; MGC129665; SGOL2; shugoshin-2; shugoshin-like 2; shugoshin-like 2 (S. pombe); TRIPIN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382200,526,142 - 200,584,096 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2200,510,008 - 200,584,096 (+)EnsemblGRCh38hg38GRCh38
GRCh372201,390,865 - 201,448,819 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,099,185 - 201,156,750 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,216,462 - 201,273,720NCBI
Celera2195,145,716 - 195,203,700 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,242,173 - 193,300,154 (+)NCBIHuRef
CHM1_12201,396,844 - 201,454,804 (+)NCBICHM1_1
T2T-CHM13v2.02200,993,676 - 201,067,575 (+)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
(-)-alpha-phellandrene  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane  (EXP)
1,1-dichloroethene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-methylcholine  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxynon-2-enal  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-phellandrene  (EXP)
androstane-3,17-dione  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
calcitriol  (EXP)
carbon nanotube  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
diallyl trisulfide  (EXP)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (EXP)
dimethylarsinic acid  (ISO)
doxorubicin  (EXP)
Enterolactone  (EXP)
folic acid  (EXP)
formaldehyde  (EXP)
FR900359  (EXP)
fragrance  (EXP)
furan  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
irinotecan  (EXP)
leflunomide  (EXP)
lidocaine  (ISO)
lucanthone  (EXP)
methotrexate  (EXP)
methylparaben  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-Nitrosopyrrolidine  (EXP)
ochratoxin A  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
phenobarbital  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
progesterone  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triticonazole  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:12477932   PMID:14702039   PMID:15174051   PMID:15489334   PMID:15489336   PMID:15815621   PMID:16344560   PMID:16381901   PMID:16541025   PMID:16565220  
PMID:17353931   PMID:17485487   PMID:18029348   PMID:18084284   PMID:19898482   PMID:20360068   PMID:20739936   PMID:20889715   PMID:21666598   PMID:21873635   PMID:23667531   PMID:24192037  
PMID:25281560   PMID:26186194   PMID:26288249   PMID:26496610   PMID:26972000   PMID:27629923   PMID:28380382   PMID:28514442   PMID:28781233   PMID:29656893   PMID:30021884   PMID:30217970  
PMID:30258100   PMID:30686591   PMID:30804394   PMID:30948266   PMID:31180492   PMID:31527146   PMID:32296183   PMID:32322060   PMID:32538781   PMID:33961781   PMID:34079125   PMID:34133714  
PMID:34200261   PMID:34244565   PMID:34535705   PMID:35271311   PMID:35915203   PMID:36089195   PMID:36373674   PMID:36566018   PMID:37689310   PMID:38334954  


Genomics

Comparative Map Data
SGO2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382200,526,142 - 200,584,096 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2200,510,008 - 200,584,096 (+)EnsemblGRCh38hg38GRCh38
GRCh372201,390,865 - 201,448,819 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,099,185 - 201,156,750 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,216,462 - 201,273,720NCBI
Celera2195,145,716 - 195,203,700 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,242,173 - 193,300,154 (+)NCBIHuRef
CHM1_12201,396,844 - 201,454,804 (+)NCBICHM1_1
T2T-CHM13v2.02200,993,676 - 201,067,575 (+)NCBIT2T-CHM13v2.0
Sgo2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,024,499 - 58,065,436 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl158,035,130 - 58,065,058 (+)EnsemblGRCm39 Ensembl
GRCm38157,985,340 - 58,026,277 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl157,995,971 - 58,025,899 (+)EnsemblGRCm38mm10GRCm38
MGSCv37158,042,184 - 58,083,121 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36157,940,612 - 57,970,443 (+)NCBIMGSCv36mm8
Celera158,499,153 - 58,539,977 (+)NCBICelera
Cytogenetic Map1C1.3NCBI
cM Map128.86NCBI
Sgo2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8967,032,083 - 67,067,439 (+)NCBIGRCr8
mRatBN7.2959,548,605 - 59,573,229 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl959,548,683 - 59,573,229 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx968,050,804 - 68,073,293 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0973,166,717 - 73,189,206 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0971,484,820 - 71,507,309 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0964,898,380 - 64,923,023 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl964,898,459 - 64,923,012 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0964,695,921 - 64,720,561 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4956,664,634 - 56,681,534 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1956,809,175 - 56,834,098 (+)NCBI
Celera956,996,167 - 57,018,671 (+)NCBICelera
Cytogenetic Map9q31NCBI
Sgo2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_004955403879,354 - 905,605 (-)NCBIChiLan1.0ChiLan1.0
SGO2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213103,149,050 - 103,206,672 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B103,164,049 - 103,221,650 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B87,779,677 - 87,837,285 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B205,943,126 - 205,994,531 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B205,943,783 - 205,994,197 (+)Ensemblpanpan1.1panPan2
SGO2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1379,611,843 - 9,653,169 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl379,611,939 - 9,767,044 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3710,498,290 - 10,539,605 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0379,511,109 - 9,552,420 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl379,511,173 - 9,552,395 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1379,499,086 - 9,540,357 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0379,471,294 - 9,512,536 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0379,469,608 - 9,511,797 (+)NCBIUU_Cfam_GSD_1.0
Sgo2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303157,649,125 - 157,686,308 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936825341,283 - 373,012 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936825350,390 - 373,005 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SGO2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15104,099,384 - 104,150,720 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115104,099,378 - 104,150,723 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215115,371,377 - 115,424,516 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SGO2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11086,019,474 - 86,075,905 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1086,025,030 - 86,067,458 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040113,364,364 - 113,418,131 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sgo2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624889540,008 - 559,035 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624889540,680 - 563,110 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SGO2
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
NM_001160033.1(SGOL2):c.116T>A (p.Ile39Lys) single nucleotide variant Malignant melanoma [RCV000060450] Chr2:200533091 [GRCh38]
Chr2:201397814 [GRCh37]
Chr2:201106059 [NCBI36]
Chr2:2q33.1		 not provided
NM_001160033.1(SGOL2):c.2166A>T (p.Ile722=) single nucleotide variant Malignant melanoma [RCV000060451] Chr2:200572512 [GRCh38]
Chr2:201437235 [GRCh37]
Chr2:201145480 [NCBI36]
Chr2:2q33.1		 not provided
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2		 pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1		 likely pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1 copy number loss See cases [RCV000136891] Chr2:200346708..201156417 [GRCh38]
Chr2:201211431..202021140 [GRCh37]
Chr2:200919676..201729385 [NCBI36]
Chr2:2q33.1		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3 copy number gain Premature ovarian failure [RCV000225154] Chr2:200250898..201845999 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1 copy number loss See cases [RCV000446984] Chr2:194581315..201752422 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
NM_152524.6(SGO2):c.1453_1454del (p.Glu485fs) microsatellite Premature ovarian failure [RCV000417157] Chr2:200571796..200571797 [GRCh38]
Chr2:201436519..201436520 [GRCh37]
Chr2:2q33.1		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1 copy number loss not provided [RCV000682162] Chr2:193537927..202027736 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_152524.6(SGO2):c.946A>G (p.Asn316Asp) single nucleotide variant not provided [RCV000913046] Chr2:200571292 [GRCh38]
Chr2:201436015 [GRCh37]
Chr2:2q33.1		 benign
NM_152524.6(SGO2):c.1029G>T (p.Glu343Asp) single nucleotide variant not provided [RCV000913047] Chr2:200571375 [GRCh38]
Chr2:201436098 [GRCh37]
Chr2:2q33.1		 benign
NM_152524.6(SGO2):c.1410A>C (p.Leu470=) single nucleotide variant not provided [RCV000913048] Chr2:200571756 [GRCh38]
Chr2:201436479 [GRCh37]
Chr2:2q33.1		 benign
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_152524.6(SGO2):c.3756C>A (p.Phe1252Leu) single nucleotide variant not specified [RCV004111522] Chr2:200575435 [GRCh38]
Chr2:201440158 [GRCh37]
Chr2:2q33.1		 likely benign
NM_152524.6(SGO2):c.3632G>A (p.Gly1211Asp) single nucleotide variant not specified [RCV004234937] Chr2:200575311 [GRCh38]
Chr2:201440034 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_152524.6(SGO2):c.1103C>G (p.Thr368Ser) single nucleotide variant not specified [RCV004240912] Chr2:200571449 [GRCh38]
Chr2:201436172 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_152524.6(SGO2):c.95A>G (p.Asn32Ser) single nucleotide variant not specified [RCV004196154] Chr2:200533070 [GRCh38]
Chr2:201397793 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_152524.6(SGO2):c.3307G>A (p.Val1103Ile) single nucleotide variant not specified [RCV004186316] Chr2:200573653 [GRCh38]
Chr2:201438376 [GRCh37]
Chr2:2q33.1		 likely benign
NM_152524.6(SGO2):c.3284T>A (p.Val1095Glu) single nucleotide variant not specified [RCV004092196] Chr2:200573630 [GRCh38]
Chr2:201438353 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_152524.6(SGO2):c.927T>A (p.Asn309Lys) single nucleotide variant not specified [RCV004217145] Chr2:200571273 [GRCh38]
Chr2:201435996 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_152524.6(SGO2):c.611C>T (p.Ser204Leu) single nucleotide variant not specified [RCV004101435] Chr2:200569800 [GRCh38]
Chr2:201434523 [GRCh37]
Chr2:2q33.1		 likely benign
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_152524.6(SGO2):c.1946A>G (p.Lys649Arg) single nucleotide variant not provided [RCV003440126] Chr2:200572292 [GRCh38]
Chr2:201437015 [GRCh37]
Chr2:2q33.1		 likely benign
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_152524.6(SGO2):c.3121T>C (p.Cys1041Arg) single nucleotide variant not specified [RCV004447908] Chr2:200573467 [GRCh38]
Chr2:201438190 [GRCh37]
Chr2:2q33.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:512
Count of miRNA genes:408
Interacting mature miRNAs:434
Transcripts:ENST00000357799, ENST00000409203, ENST00000418045, ENST00000460534, ENST00000469840, ENST00000488636
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597152545GWAS1248619_Hmemory performance, language measurement QTL GWAS1248619 (human)0.0000007memory performance, language measurement2200574923200574925Human
597185078GWAS1281152_Hhydantoin-5-propionate measurement QTL GWAS1281152 (human)2e-11hydantoin-5-propionate measurement2200531320200531321Human
597022379GWAS1118453_Hmacrophage inflammatory protein 1a measurement QTL GWAS1118453 (human)0.000002macrophage inflammatory protein 1a measurement2200547932200547933Human

Markers in Region
SHGC-145527  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,391,515 - 201,391,863UniSTSGRCh37
Build 362201,099,760 - 201,100,108RGDNCBI36
Celera2195,146,366 - 195,146,714RGD
Cytogenetic Map2q33.1UniSTS
HuRef2193,242,823 - 193,243,171UniSTS
TNG Radiation Hybrid Map2111288.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2252 4972 1722 2347 6 619 1946 461 2269 7292 6464 53 3733 1 850 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001160033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001160046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054340764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC080164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK057940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY094614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC092412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB369428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000357799   ⟹   ENSP00000350447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,526,207 - 200,584,096 (+)Ensembl
Ensembl Acc Id: ENST00000409203   ⟹   ENSP00000386249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,526,167 - 200,570,142 (+)Ensembl
Ensembl Acc Id: ENST00000418045   ⟹   ENSP00000393325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,510,008 - 200,535,124 (+)Ensembl
Ensembl Acc Id: ENST00000460534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,531,775 - 200,533,375 (+)Ensembl
Ensembl Acc Id: ENST00000469840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,535,141 - 200,543,622 (+)Ensembl
Ensembl Acc Id: ENST00000488636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,535,046 - 200,542,950 (+)Ensembl
RefSeq Acc Id: NM_001160033   ⟹   NP_001153505
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,142 - 200,584,095 (+)NCBI
GRCh372201,390,865 - 201,448,818 (+)RGD
Celera2195,145,716 - 195,203,700 (+)RGD
HuRef2193,242,173 - 193,300,154 (+)RGD
CHM1_12201,396,844 - 201,454,804 (+)NCBI
T2T-CHM13v2.02201,009,643 - 201,067,574 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001160046   ⟹   NP_001153518
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,142 - 200,580,668 (+)NCBI
GRCh372201,390,865 - 201,448,818 (+)RGD
Celera2195,145,716 - 195,203,700 (+)RGD
HuRef2193,242,173 - 193,300,154 (+)RGD
CHM1_12201,396,844 - 201,451,377 (+)NCBI
T2T-CHM13v2.02201,009,643 - 201,064,146 (+)NCBI
Sequence:
RefSeq Acc Id: NM_152524   ⟹   NP_689737
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,207 - 200,584,096 (+)NCBI
GRCh372201,390,865 - 201,448,818 (+)RGD
Build 362201,099,185 - 201,156,750 (+)NCBI Archive
Celera2195,145,716 - 195,203,700 (+)RGD
HuRef2193,242,173 - 193,300,154 (+)RGD
CHM1_12201,396,844 - 201,454,804 (+)NCBI
T2T-CHM13v2.02201,009,708 - 201,067,575 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246344   ⟹   XP_005246401
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,142 - 200,584,096 (+)NCBI
GRCh372201,390,865 - 201,448,818 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246345   ⟹   XP_005246402
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,142 - 200,584,096 (+)NCBI
GRCh372201,390,865 - 201,448,818 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003452   ⟹   XP_016858941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,142 - 200,584,096 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003454   ⟹   XP_016858943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,142 - 200,580,668 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443501   ⟹   XP_047299457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,207 - 200,584,096 (+)NCBI
RefSeq Acc Id: XM_047443502   ⟹   XP_047299458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,142 - 200,580,668 (+)NCBI
RefSeq Acc Id: XM_047443503   ⟹   XP_047299459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,207 - 200,584,096 (+)NCBI
RefSeq Acc Id: XM_054340758   ⟹   XP_054196733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,009,760 - 201,067,575 (+)NCBI
RefSeq Acc Id: XM_054340759   ⟹   XP_054196734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02200,993,676 - 201,067,575 (+)NCBI
RefSeq Acc Id: XM_054340760   ⟹   XP_054196735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,007,243 - 201,067,575 (+)NCBI
RefSeq Acc Id: XM_054340761   ⟹   XP_054196736
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,009,643 - 201,064,146 (+)NCBI
RefSeq Acc Id: XM_054340762   ⟹   XP_054196737
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,009,643 - 201,067,575 (+)NCBI
RefSeq Acc Id: XM_054340763   ⟹   XP_054196738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,009,643 - 201,064,146 (+)NCBI
RefSeq Acc Id: XM_054340764   ⟹   XP_054196739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,009,643 - 201,067,575 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001153505 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153518 (Get FASTA)   NCBI Sequence Viewer  
  NP_689737 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246401 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246402 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858941 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858943 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299457 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299458 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196733 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196734 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196735 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196736 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196737 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196738 (Get FASTA)   NCBI Sequence Viewer  
  XP_054196739 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH35764 (Get FASTA)   NCBI Sequence Viewer  
  AAH48349 (Get FASTA)   NCBI Sequence Viewer  
  AAH92412 (Get FASTA)   NCBI Sequence Viewer  
  AAM21971 (Get FASTA)   NCBI Sequence Viewer  
  AAY24264 (Get FASTA)   NCBI Sequence Viewer  
  AAY24310 (Get FASTA)   NCBI Sequence Viewer  
  BAB71617 (Get FASTA)   NCBI Sequence Viewer  
  BAC04524 (Get FASTA)   NCBI Sequence Viewer  
  BAH13715 (Get FASTA)   NCBI Sequence Viewer  
  EAW70207 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000350447
  ENSP00000350447.4
  ENSP00000386249.3
  ENSP00000393325.1
GenBank Protein Q562F6 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_689737   ⟸   NM_152524
- Peptide Label: isoform 1
- UniProtKB: Q562F6 (UniProtKB/Swiss-Prot),   Q8N1Q5 (UniProtKB/Swiss-Prot),   Q8IZK1 (UniProtKB/Swiss-Prot),   Q8IWK2 (UniProtKB/Swiss-Prot),   Q86XY4 (UniProtKB/Swiss-Prot),   Q53T20 (UniProtKB/Swiss-Prot),   Q53RR9 (UniProtKB/Swiss-Prot),   Q96LQ3 (UniProtKB/Swiss-Prot),   B7Z7S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153505   ⟸   NM_001160033
- Peptide Label: isoform 2
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001153518   ⟸   NM_001160046
- Peptide Label: isoform 3
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246402   ⟸   XM_005246345
- Peptide Label: isoform X5
- UniProtKB: Q562F6 (UniProtKB/Swiss-Prot),   Q8N1Q5 (UniProtKB/Swiss-Prot),   Q8IZK1 (UniProtKB/Swiss-Prot),   Q8IWK2 (UniProtKB/Swiss-Prot),   Q86XY4 (UniProtKB/Swiss-Prot),   Q53T20 (UniProtKB/Swiss-Prot),   Q53RR9 (UniProtKB/Swiss-Prot),   Q96LQ3 (UniProtKB/Swiss-Prot),   B7Z7S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005246401   ⟸   XM_005246344
- Peptide Label: isoform X3
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858943   ⟸   XM_017003454
- Peptide Label: isoform X2
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016858941   ⟸   XM_017003452
- Peptide Label: isoform X1
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000393325   ⟸   ENST00000418045
Ensembl Acc Id: ENSP00000386249   ⟸   ENST00000409203
Ensembl Acc Id: ENSP00000350447   ⟸   ENST00000357799
RefSeq Acc Id: XP_047299458   ⟸   XM_047443502
- Peptide Label: isoform X4
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299457   ⟸   XM_047443501
- Peptide Label: isoform X1
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047299459   ⟸   XM_047443503
- Peptide Label: isoform X5
- UniProtKB: Q8N1Q5 (UniProtKB/Swiss-Prot),   Q8IZK1 (UniProtKB/Swiss-Prot),   Q8IWK2 (UniProtKB/Swiss-Prot),   Q86XY4 (UniProtKB/Swiss-Prot),   Q562F6 (UniProtKB/Swiss-Prot),   Q53T20 (UniProtKB/Swiss-Prot),   Q53RR9 (UniProtKB/Swiss-Prot),   Q96LQ3 (UniProtKB/Swiss-Prot),   B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196734   ⟸   XM_054340759
- Peptide Label: isoform X1
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196735   ⟸   XM_054340760
- Peptide Label: isoform X1
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196739   ⟸   XM_054340764
- Peptide Label: isoform X5
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196737   ⟸   XM_054340762
- Peptide Label: isoform X3
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196736   ⟸   XM_054340761
- Peptide Label: isoform X2
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196738   ⟸   XM_054340763
- Peptide Label: isoform X4
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054196733   ⟸   XM_054340758
- Peptide Label: isoform X1
- UniProtKB: B7Z7S9 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q562F6-F1-model_v2 AlphaFold Q562F6 1-1265 view protein structure

Promoters
RGD ID:6862476
Promoter ID:EPDNEW_H4403
Type:initiation region
Name:SGO2_1
Description:shugoshin 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,526,207 - 200,526,267EPDNEW
RGD ID:6798157
Promoter ID:HG_KWN:36611
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000295774,   ENST00000409203,   NM_001160033,   NM_001160046,   NM_152524
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,098,816 - 201,099,316 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30812 AgrOrtholog
COSMIC SGO2 COSMIC
Ensembl Genes ENSG00000163535 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000357799 ENTREZGENE
  ENST00000357799.9 UniProtKB/Swiss-Prot
  ENST00000409203.3 UniProtKB/Swiss-Prot
  ENST00000418045.5 UniProtKB/TrEMBL
GTEx ENSG00000163535 GTEx
HGNC ID HGNC:30812 ENTREZGENE
Human Proteome Map SGO2 Human Proteome Map
InterPro Shugoshin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:151246 UniProtKB/Swiss-Prot
NCBI Gene 151246 ENTREZGENE
OMIM 612425 OMIM
PANTHER PTHR21577 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHUGOSHIN 1-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134901462 PharmGKB
UniProt B7Z7S9 ENTREZGENE, UniProtKB/TrEMBL
  C9JW92_HUMAN UniProtKB/TrEMBL
  Q53RR9 ENTREZGENE
  Q53T20 ENTREZGENE
  Q562F6 ENTREZGENE
  Q86XY4 ENTREZGENE
  Q8IWK2 ENTREZGENE
  Q8IZK1 ENTREZGENE
  Q8N1Q5 ENTREZGENE
  Q96LQ3 ENTREZGENE
  SGO2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q53RR9 UniProtKB/Swiss-Prot
  Q53T20 UniProtKB/Swiss-Prot
  Q86XY4 UniProtKB/Swiss-Prot
  Q8IWK2 UniProtKB/Swiss-Prot
  Q8IZK1 UniProtKB/Swiss-Prot
  Q8N1Q5 UniProtKB/Swiss-Prot
  Q96LQ3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 SGO2  shugoshin 2  SGOL2  shugoshin-like 2 (S. pombe)  Symbol and/or name change 5135510 APPROVED