SP3 (Sp3 transcription factor) - Rat Genome Database

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Gene: SP3 (Sp3 transcription factor) Homo sapiens
Analyze
Symbol: SP3
Name: Sp3 transcription factor
RGD ID: 1319818
HGNC Page HGNC:11208
Description: Enables RNA polymerase II transcription regulatory region sequence-specific DNA binding activity and RNA polymerase II-specific DNA-binding transcription factor binding activity. Involved in negative regulation of DNA-templated transcription and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleoplasm.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: DKFZp686O1631; GC-binding transcription factor Sp3; specificity protein 3; SPR-2; SPR2; transcription factor Sp3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: SP3P  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382173,900,775 - 173,965,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2173,880,850 - 173,965,373 (-)EnsemblGRCh38hg38GRCh38
GRCh372174,765,503 - 174,830,430 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362174,481,504 - 174,538,309 (-)NCBINCBI36Build 36hg18NCBI36
Celera2168,384,626 - 168,443,931 (-)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2166,650,849 - 166,709,905 (-)NCBIHuRef
CHM1_12174,778,156 - 174,837,417 (-)NCBICHM1_1
T2T-CHM13v2.02174,387,111 - 174,452,024 (-)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
(+)-catechin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-methylcholine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
7,12-dimethyltetraphene  (ISO)
aflatoxin B1  (EXP,ISO)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP,ISO)
benzene  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
biotin  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
camptothecin  (EXP)
carbamazepine  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cordycepin  (EXP)
coumarin  (EXP)
crocidolite asbestos  (ISO)
curcumin  (EXP)
daunorubicin  (EXP)
decabromodiphenyl ether  (ISO)
diarsenic trioxide  (EXP,ISO)
dichloromethane  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
fenvalerate  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
gentamycin  (ISO)
glutathione  (EXP)
gold atom  (EXP)
gold(0)  (EXP)
homocysteic acid  (EXP)
hydrogen peroxide  (EXP)
L-ascorbic acid  (EXP)
lead nitrate  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
MC1568  (EXP)
metformin  (EXP)
methotrexate  (ISO)
methylmercury chloride  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
nickel sulfate  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
permethrin  (ISO)
phenobarbital  (ISO)
phenytoin  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
promegestone  (EXP)
quercetin  (EXP)
quercetin 3-O-beta-D-galactopyranoside  (EXP)
resveratrol  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (EXP)
S-nitrosoglutathione  (EXP)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
tamoxifen  (EXP)
tetrathiomolybdate(2-)  (EXP)
trichostatin A  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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
Additional References at PubMed
PMID:1341900   PMID:1454515   PMID:7559627   PMID:7732011   PMID:7800480   PMID:8845379   PMID:8896459   PMID:8938460   PMID:9224612   PMID:9278495   PMID:9329821   PMID:9388268  
PMID:10362258   PMID:10391891   PMID:10547281   PMID:10816575   PMID:10825178   PMID:11237613   PMID:11447232   PMID:11517158   PMID:11773047   PMID:11796707   PMID:11839742   PMID:11850421  
PMID:11867623   PMID:12004059   PMID:12054741   PMID:12071960   PMID:12091390   PMID:12133007   PMID:12151407   PMID:12176973   PMID:12186868   PMID:12200149   PMID:12297010   PMID:12297462  
PMID:12356736   PMID:12378384   PMID:12411611   PMID:12414801   PMID:12419227   PMID:12477932   PMID:12509426   PMID:12560508   PMID:12576329   PMID:12664565   PMID:12665570   PMID:12694199  
PMID:12730302   PMID:12771217   PMID:12818425   PMID:12837748   PMID:12855685   PMID:12911579   PMID:12943729   PMID:12972613   PMID:14608051   PMID:14623259   PMID:14645238   PMID:14667819  
PMID:14697235   PMID:14742449   PMID:14766015   PMID:14767471   PMID:14767558   PMID:14970236   PMID:14979875   PMID:15107420   PMID:15111490   PMID:15118068   PMID:15247228   PMID:15247906  
PMID:15342781   PMID:15466927   PMID:15474306   PMID:15489334   PMID:15494207   PMID:15523672   PMID:15546615   PMID:15572681   PMID:15619633   PMID:15666829   PMID:15706661   PMID:15747776  
PMID:15777284   PMID:15780936   PMID:15781457   PMID:15790310   PMID:15816870   PMID:15821099   PMID:15831526   PMID:15869407   PMID:15951564   PMID:15979574   PMID:15987735   PMID:16024108  
PMID:16061936   PMID:16081043   PMID:16150893   PMID:16201967   PMID:16339759   PMID:16529657   PMID:16574784   PMID:16603733   PMID:16651265   PMID:16671893   PMID:16672217   PMID:16677608  
PMID:16696853   PMID:16734381   PMID:16760259   PMID:16806531   PMID:16807381   PMID:16965966   PMID:17124180   PMID:17130167   PMID:17241874   PMID:17297470   PMID:17343736   PMID:17500595  
PMID:17540780   PMID:17548428   PMID:17616668   PMID:17652716   PMID:17681019   PMID:17698844   PMID:17894944   PMID:17906119   PMID:18053089   PMID:18065760   PMID:18195733   PMID:18314536  
PMID:18329191   PMID:18342022   PMID:18343609   PMID:18348986   PMID:18393243   PMID:18496767   PMID:18522535   PMID:18543253   PMID:18593936   PMID:18604866   PMID:18725933   PMID:19064501  
PMID:19212434   PMID:19274049   PMID:19309563   PMID:19339282   PMID:19505873   PMID:20091743   PMID:20180024   PMID:20385708   PMID:20442780   PMID:20462637   PMID:20518744   PMID:20519498  
PMID:20538607   PMID:20974858   PMID:21235713   PMID:21248046   PMID:21335086   PMID:21554857   PMID:21604172   PMID:21873635   PMID:21919647   PMID:22139845   PMID:22311708   PMID:22464952  
PMID:22682030   PMID:22871965   PMID:23000412   PMID:23028678   PMID:23133566   PMID:23223231   PMID:23326307   PMID:23401853   PMID:23464785   PMID:23523134   PMID:23540600   PMID:23825960  
PMID:23974705   PMID:23996530   PMID:24029427   PMID:24315822   PMID:24710631   PMID:24952745   PMID:25476526   PMID:25797200   PMID:26012884   PMID:26162987   PMID:26186194   PMID:26352013  
PMID:26431879   PMID:26487723   PMID:26760575   PMID:26807725   PMID:26967243   PMID:27521280   PMID:27668303   PMID:27940107   PMID:28473536   PMID:28514442   PMID:28844709   PMID:29207083  
PMID:29509190   PMID:30561605   PMID:31266804   PMID:31299490   PMID:31527615   PMID:32296183   PMID:32641483   PMID:32694731   PMID:32814053   PMID:33113244   PMID:33742100   PMID:33934099  
PMID:33961781   PMID:34186245   PMID:35019687   PMID:35044719   PMID:35563538   PMID:35831314   PMID:35944360   PMID:36215168   PMID:38354174  


Genomics

Comparative Map Data
SP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382173,900,775 - 173,965,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2173,880,850 - 173,965,373 (-)EnsemblGRCh38hg38GRCh38
GRCh372174,765,503 - 174,830,430 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362174,481,504 - 174,538,309 (-)NCBINCBI36Build 36hg18NCBI36
Celera2168,384,626 - 168,443,931 (-)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2166,650,849 - 166,709,905 (-)NCBIHuRef
CHM1_12174,778,156 - 174,837,417 (-)NCBICHM1_1
T2T-CHM13v2.02174,387,111 - 174,452,024 (-)NCBIT2T-CHM13v2.0
Sp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39272,766,774 - 72,810,790 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl272,766,771 - 72,810,790 (-)EnsemblGRCm39 Ensembl
GRCm38272,936,430 - 72,980,446 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl272,936,427 - 72,980,446 (-)EnsemblGRCm38mm10GRCm38
MGSCv37272,774,487 - 72,818,503 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36272,737,269 - 72,789,548 (-)NCBIMGSCv36mm8
Celera274,621,937 - 74,665,927 (-)NCBICelera
Cytogenetic Map2C3NCBI
cM Map243.35NCBI
Sp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8378,219,421 - 78,272,318 (-)NCBIGRCr8
mRatBN7.2357,811,855 - 57,857,150 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl357,812,075 - 57,860,342 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0359,644,579 - 59,689,011 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl359,646,015 - 59,688,692 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0366,118,151 - 66,163,940 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0366,729,636 - 66,739,419 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4355,440,985 - 55,485,768 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera357,350,925 - 57,387,172 (-)NCBICelera
Cytogenetic Map3q23NCBI
Sp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554491,347,781 - 1,404,368 (+)NCBIChiLan1.0ChiLan1.0
SP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21376,573,271 - 76,630,819 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B76,588,245 - 76,645,598 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B61,185,975 - 61,243,155 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B178,639,630 - 178,698,313 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B178,639,677 - 178,692,848 (-)Ensemblpanpan1.1panPan2
SP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13618,023,750 - 18,086,995 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3618,024,627 - 18,077,587 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3618,030,699 - 18,085,623 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03618,154,210 - 18,209,148 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3618,152,355 - 18,209,033 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13618,234,479 - 18,289,351 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03618,232,972 - 18,287,863 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03618,336,948 - 18,391,940 (-)NCBIUU_Cfam_GSD_1.0
Sp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303135,186,490 - 135,238,803 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365093,741,836 - 3,793,136 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365093,740,393 - 3,782,873 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1579,935,994 - 80,025,850 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11579,935,986 - 79,990,139 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21589,252,305 - 89,292,992 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11059,414,739 - 59,471,596 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1059,416,152 - 59,470,456 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040140,106,666 - 140,163,017 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sp3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478711,144,581 - 11,193,520 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SP3
35 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-31.2(chr2:172779876-177598000)x1 copy number loss See cases [RCV000050765] Chr2:172779876..177598000 [GRCh38]
Chr2:173644604..178462728 [GRCh37]
Chr2:173352850..178170974 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 copy number loss See cases [RCV000052554] Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1-31.2(chr2:173408061-177702487)x1 copy number loss See cases [RCV000052555] Chr2:173408061..177702487 [GRCh38]
Chr2:174272789..178567215 [GRCh37]
Chr2:173981035..178275461 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q31.1(chr2:173699279-175586070)x1 copy number loss See cases [RCV000052556] Chr2:173699279..175586070 [GRCh38]
Chr2:174564007..176450798 [GRCh37]
Chr2:174272253..176159044 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:173960458-175924594)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052557]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052557]|See cases [RCV000052557] Chr2:173960458..175924594 [GRCh38]
Chr2:174825186..176789322 [GRCh37]
Chr2:174533432..176497568 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1
pathogenic
GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 copy number loss See cases [RCV000054127] Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1
pathogenic
GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 copy number loss See cases [RCV000136850] Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2
pathogenic
GRCh38/hg38 2q31.1(chr2:173713838-175467462)x3 copy number gain See cases [RCV000138664] Chr2:173713838..175467462 [GRCh38]
Chr2:174578566..176332190 [GRCh37]
Chr2:174286812..176040436 [NCBI36]
Chr2:2q31.1
uncertain significance|conflicting data from submitters
GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 copy number loss See cases [RCV000139646] Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2
pathogenic
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1
pathogenic
GRCh38/hg38 2q31.1(chr2:173713838-175467462)x1 copy number loss See cases [RCV000142878] Chr2:173713838..175467462 [GRCh38]
Chr2:174578566..176332190 [GRCh37]
Chr2:174286812..176040436 [NCBI36]
Chr2:2q31.1
pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3
pathogenic
GRCh37/hg19 2q31.1(chr2:174586724-176423918)x1 copy number loss See cases [RCV000240261] Chr2:174586724..176423918 [GRCh37]
Chr2:2q31.1
likely 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
GRCh37/hg19 2q31.1(chr2:174562039-175276727)x1 copy number loss See cases [RCV000447239] Chr2:174562039..175276727 [GRCh37]
Chr2:2q31.1
uncertain significance
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 2q31.1(chr2:174573334-175268147)x1 copy number loss See cases [RCV000448480] Chr2:174573334..175268147 [GRCh37]
Chr2:2q31.1
uncertain significance
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 2q31.1(chr2:174783555-176832848)x1 copy number loss See cases [RCV000510266] Chr2:174783555..176832848 [GRCh37]
Chr2:2q31.1
uncertain significance
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
NM_003111.5(SP3):c.605G>A (p.Ser202Asn) single nucleotide variant Inborn genetic diseases [RCV003249349] Chr2:173955907 [GRCh38]
Chr2:174820635 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3 copy number gain not provided [RCV000682159] Chr2:171667051..176832848 [GRCh37]
Chr2:2q31.1
pathogenic
GRCh37/hg19 2q31.1-31.2(chr2:173741558-178416381)x1 copy number loss not provided [RCV000682153] Chr2:173741558..178416381 [GRCh37]
Chr2:2q31.1-31.2
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 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2
pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:174238257-181604341)x1 copy number loss not provided [RCV000740710] Chr2:174238257..181604341 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
GRCh37/hg19 2q31.1(chr2:174562000-175276727)x1 copy number loss not provided [RCV001005358] Chr2:174562000..175276727 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3
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
GRCh37/hg19 2q31.1-32.1(chr2:173538954-186401606)x1 copy number loss not provided [RCV000846537] Chr2:173538954..186401606 [GRCh37]
Chr2:2q31.1-32.1
pathogenic
NM_003111.5(SP3):c.1492G>C (p.Gly498Arg) single nucleotide variant Inborn genetic diseases [RCV003292480] Chr2:173955020 [GRCh38]
Chr2:174819748 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.490A>G (p.Thr164Ala) single nucleotide variant not provided [RCV001645645] Chr2:173956022 [GRCh38]
Chr2:174820750 [GRCh37]
Chr2:2q31.1
benign
NM_003111.5(SP3):c.2142A>C (p.Thr714=) single nucleotide variant not provided [RCV000956004] Chr2:173910145 [GRCh38]
Chr2:174774873 [GRCh37]
Chr2:2q31.1
benign
NM_003111.5(SP3):c.1566A>G (p.Gln522=) single nucleotide variant not provided [RCV000956005] Chr2:173954946 [GRCh38]
Chr2:174819674 [GRCh37]
Chr2:2q31.1
benign
NM_003111.5(SP3):c.1725C>T (p.His575=) single nucleotide variant not provided [RCV000889618] Chr2:173918700 [GRCh38]
Chr2:174783428 [GRCh37]
Chr2:2q31.1
benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3
pathogenic
GRCh37/hg19 2q31.1(chr2:173865202-175428639)x1 copy number loss not provided [RCV001005356] Chr2:173865202..175428639 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.2105del (p.Thr702fs) deletion See cases [RCV001199246] Chr2:173910182 [GRCh38]
Chr2:174774910 [GRCh37]
Chr2:2q31.1
uncertain significance
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 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3
pathogenic
GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361) copy number loss 3-4 finger syndactyly [RCV001352646] Chr2:171999572..182774361 [GRCh37]
Chr2:2q31.1-31.3
pathogenic
GRCh37/hg19 2q31.1(chr2:174562039-175276727) copy number loss not specified [RCV002053266] Chr2:174562039..175276727 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:174573334-175268147) copy number loss not specified [RCV002053267] Chr2:174573334..175268147 [GRCh37]
Chr2:2q31.1
uncertain significance
GRCh37/hg19 2q31.1(chr2:174673094-177275625)x3 copy number gain not provided [RCV001825257] Chr2:174673094..177275625 [GRCh37]
Chr2:2q31.1
not provided
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35
pathogenic
Single allele deletion Split hand-foot malformation 5 [RCV002264898] Chr2:171524396..178694337 [GRCh37]
Chr2:2q31.1-31.2
pathogenic
NM_003111.5(SP3):c.265G>T (p.Ala89Ser) single nucleotide variant Inborn genetic diseases [RCV002839614] Chr2:173963775 [GRCh38]
Chr2:174828503 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.2240G>A (p.Gly747Glu) single nucleotide variant Inborn genetic diseases [RCV002687755] Chr2:173910047 [GRCh38]
Chr2:174774775 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.316C>T (p.Pro106Ser) single nucleotide variant Inborn genetic diseases [RCV002794472] Chr2:173956196 [GRCh38]
Chr2:174820924 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.2263G>A (p.Ala755Thr) single nucleotide variant Inborn genetic diseases [RCV002734751] Chr2:173910024 [GRCh38]
Chr2:174774752 [GRCh37]
Chr2:2q31.1
likely benign
NM_003111.5(SP3):c.413A>C (p.Gln138Pro) single nucleotide variant Inborn genetic diseases [RCV002778668] Chr2:173956099 [GRCh38]
Chr2:174820827 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.344C>T (p.Thr115Ile) single nucleotide variant Inborn genetic diseases [RCV002860920] Chr2:173956168 [GRCh38]
Chr2:174820896 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1094C>T (p.Ser365Phe) single nucleotide variant Inborn genetic diseases [RCV002732462] Chr2:173955418 [GRCh38]
Chr2:174820146 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.2188G>T (p.Ala730Ser) single nucleotide variant Inborn genetic diseases [RCV002844358] Chr2:173910099 [GRCh38]
Chr2:174774827 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1585A>G (p.Ile529Val) single nucleotide variant Inborn genetic diseases [RCV002822822] Chr2:173954927 [GRCh38]
Chr2:174819655 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.314C>G (p.Ala105Gly) single nucleotide variant Inborn genetic diseases [RCV002822703] Chr2:173956198 [GRCh38]
Chr2:174820926 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.911A>G (p.Asp304Gly) single nucleotide variant Inborn genetic diseases [RCV002929836] Chr2:173955601 [GRCh38]
Chr2:174820329 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.743G>C (p.Gly248Ala) single nucleotide variant Inborn genetic diseases [RCV002764108] Chr2:173955769 [GRCh38]
Chr2:174820497 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.494T>A (p.Val165Glu) single nucleotide variant Inborn genetic diseases [RCV002803689] Chr2:173956018 [GRCh38]
Chr2:174820746 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.2338A>G (p.Met780Val) single nucleotide variant Inborn genetic diseases [RCV002955312] Chr2:173909949 [GRCh38]
Chr2:174774677 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.460G>A (p.Val154Ile) single nucleotide variant Inborn genetic diseases [RCV002670371] Chr2:173956052 [GRCh38]
Chr2:174820780 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.880G>A (p.Gly294Arg) single nucleotide variant Inborn genetic diseases [RCV002675441] Chr2:173955632 [GRCh38]
Chr2:174820360 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1261A>G (p.Ile421Val) single nucleotide variant Inborn genetic diseases [RCV002673260] Chr2:173955251 [GRCh38]
Chr2:174819979 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.631A>C (p.Asn211His) single nucleotide variant Inborn genetic diseases [RCV002679701] Chr2:173955881 [GRCh38]
Chr2:174820609 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1065C>G (p.Ser355Arg) single nucleotide variant Inborn genetic diseases [RCV002722702] Chr2:173955447 [GRCh38]
Chr2:174820175 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.2282T>C (p.Ile761Thr) single nucleotide variant Inborn genetic diseases [RCV003196248] Chr2:173910005 [GRCh38]
Chr2:174774733 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1772A>G (p.Glu591Gly) single nucleotide variant Inborn genetic diseases [RCV003283087] Chr2:173918653 [GRCh38]
Chr2:174783381 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1444A>G (p.Thr482Ala) single nucleotide variant Inborn genetic diseases [RCV003193210] Chr2:173955068 [GRCh38]
Chr2:174819796 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1121A>G (p.Gln374Arg) single nucleotide variant Inborn genetic diseases [RCV003371733] Chr2:173955391 [GRCh38]
Chr2:174820119 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1585A>C (p.Ile529Leu) single nucleotide variant Inborn genetic diseases [RCV003364736] Chr2:173954927 [GRCh38]
Chr2:174819655 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1029A>G (p.Ile343Met) single nucleotide variant Inborn genetic diseases [RCV003351722] Chr2:173955483 [GRCh38]
Chr2:174820211 [GRCh37]
Chr2:2q31.1
uncertain significance
NM_003111.5(SP3):c.1025C>G (p.Thr342Arg) single nucleotide variant Inborn genetic diseases [RCV003366299] Chr2:173955487 [GRCh38]
Chr2:174820215 [GRCh37]
Chr2:2q31.1
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3184
Count of miRNA genes:742
Interacting mature miRNAs:844
Transcripts:ENST00000310015, ENST00000416195, ENST00000418194, ENST00000455789, ENST00000462904, ENST00000465379, ENST00000483084, ENST00000490182
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.

Markers in Region
SHGC-81056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372174,812,021 - 174,812,364UniSTSGRCh37
Build 362174,520,267 - 174,520,610RGDNCBI36
Celera2168,425,522 - 168,425,865RGD
Cytogenetic Map2q31UniSTS
HuRef2166,691,786 - 166,692,129UniSTS
TNG Radiation Hybrid Map296701.0UniSTS
RH68948  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372174,771,460 - 174,771,590UniSTSGRCh37
Build 362174,479,706 - 174,479,836RGDNCBI36
Celera2168,384,899 - 168,385,029RGD
Cytogenetic Map2q31UniSTS
HuRef2166,651,122 - 166,651,252UniSTS
GeneMap99-GB4 RH Map2567.7UniSTS
NCBI RH Map21352.7UniSTS
PMC305603P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372174,820,416 - 174,820,627UniSTSGRCh37
GRCh371390,014,898 - 90,015,106UniSTSGRCh37
Build 362174,528,662 - 174,528,873RGDNCBI36
Celera2168,433,917 - 168,434,128RGD
Celera1370,856,499 - 70,856,707UniSTS
HuRef1370,600,259 - 70,600,467UniSTS
HuRef2166,700,181 - 166,700,392UniSTS
SP3_2024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372174,773,193 - 174,774,084UniSTSGRCh37
Build 362174,481,439 - 174,482,330RGDNCBI36
Celera2168,386,632 - 168,387,523RGD
HuRef2166,652,855 - 166,653,746UniSTS
RH65817  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372174,816,953 - 174,817,127UniSTSGRCh37
Build 362174,525,199 - 174,525,373RGDNCBI36
Celera2168,430,454 - 168,430,628RGD
Cytogenetic Map2q31UniSTS
HuRef2166,696,718 - 166,696,892UniSTS
GeneMap99-GB4 RH Map2567.59UniSTS
RH65732  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372174,826,773 - 174,826,923UniSTSGRCh37
Build 362174,535,019 - 174,535,169RGDNCBI36
Celera2168,440,274 - 168,440,424RGD
Cytogenetic Map2q31UniSTS
HuRef2166,706,538 - 166,706,688UniSTS
GeneMap99-GB4 RH Map2564.72UniSTS
NCBI RH Map21352.7UniSTS


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 2300 1971 1380 380 1625 223 3980 1414 1863 291 1419 1605 170 1201 2433 4
Low 139 1020 346 244 326 242 377 783 1871 128 41 8 5 1 3 355 2 2
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001017371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA706229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB209334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC106900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF494280 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ310752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ430844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW204666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW295583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY070137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY251018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY441957 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY441958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ010796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M97191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000310015   ⟹   ENSP00000310301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,900,775 - 173,965,373 (-)Ensembl
RefSeq Acc Id: ENST00000416195   ⟹   ENSP00000413665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,908,530 - 173,964,553 (-)Ensembl
RefSeq Acc Id: ENST00000418194   ⟹   ENSP00000406140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,908,530 - 173,964,219 (-)Ensembl
RefSeq Acc Id: ENST00000418620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,880,865 - 173,899,428 (-)Ensembl
RefSeq Acc Id: ENST00000462904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,955,817 - 173,965,310 (-)Ensembl
RefSeq Acc Id: ENST00000465379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,908,532 - 173,916,832 (-)Ensembl
RefSeq Acc Id: ENST00000483084
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,956,074 - 173,963,379 (-)Ensembl
RefSeq Acc Id: ENST00000490182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,956,081 - 173,964,885 (-)Ensembl
RefSeq Acc Id: ENST00000650743   ⟹   ENSP00000498794
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,880,850 - 173,956,232 (-)Ensembl
RefSeq Acc Id: ENST00000651846   ⟹   ENSP00000499057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,880,850 - 173,918,785 (-)Ensembl
RefSeq Acc Id: ENST00000652005   ⟹   ENSP00000498392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2173,908,558 - 173,964,069 (-)Ensembl
RefSeq Acc Id: NM_001017371   ⟹   NP_001017371
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,900,775 - 173,963,880 (-)NCBI
GRCh372174,771,187 - 174,830,430 (-)ENTREZGENE
Build 362174,481,504 - 174,537,193 (-)NCBI Archive
HuRef2166,650,849 - 166,709,905 (-)ENTREZGENE
CHM1_12174,778,156 - 174,835,934 (-)NCBI
T2T-CHM13v2.02174,387,111 - 174,450,202 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172712   ⟹   NP_001166183
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,906,459 - 173,965,702 (-)NCBI
GRCh372174,771,187 - 174,830,430 (-)ENTREZGENE
HuRef2166,650,849 - 166,709,905 (-)ENTREZGENE
CHM1_12174,778,156 - 174,837,417 (-)NCBI
T2T-CHM13v2.02174,392,794 - 174,452,024 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003111   ⟹   NP_003102
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,900,775 - 173,965,373 (-)NCBI
GRCh372174,771,187 - 174,830,430 (-)ENTREZGENE
Build 362174,481,505 - 174,538,309 (-)NCBI Archive
HuRef2166,650,849 - 166,709,905 (-)ENTREZGENE
CHM1_12174,778,156 - 174,837,417 (-)NCBI
T2T-CHM13v2.02174,387,111 - 174,451,695 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001017371 (Get FASTA)   NCBI Sequence Viewer  
  NP_001166183 (Get FASTA)   NCBI Sequence Viewer  
  NP_003102 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA36630 (Get FASTA)   NCBI Sequence Viewer  
  AAH42945 (Get FASTA)   NCBI Sequence Viewer  
  AAI26415 (Get FASTA)   NCBI Sequence Viewer  
  AAI43929 (Get FASTA)   NCBI Sequence Viewer  
  AAL58086 (Get FASTA)   NCBI Sequence Viewer  
  AAL58087 (Get FASTA)   NCBI Sequence Viewer  
  AAL58088 (Get FASTA)   NCBI Sequence Viewer  
  AAM12875 (Get FASTA)   NCBI Sequence Viewer  
  AAP03059 (Get FASTA)   NCBI Sequence Viewer  
  AAR30505 (Get FASTA)   NCBI Sequence Viewer  
  AAR30506 (Get FASTA)   NCBI Sequence Viewer  
  BAD92571 (Get FASTA)   NCBI Sequence Viewer  
  BAG65079 (Get FASTA)   NCBI Sequence Viewer  
  CAA48562 (Get FASTA)   NCBI Sequence Viewer  
  CAC34575 (Get FASTA)   NCBI Sequence Viewer  
  CAD23619 (Get FASTA)   NCBI Sequence Viewer  
  CAH18178 (Get FASTA)   NCBI Sequence Viewer  
  EAX11152 (Get FASTA)   NCBI Sequence Viewer  
  EAX11153 (Get FASTA)   NCBI Sequence Viewer  
  EAX11154 (Get FASTA)   NCBI Sequence Viewer  
  EAX11155 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000310301
  ENSP00000310301.6
  ENSP00000406140
  ENSP00000406140.3
  ENSP00000413665
  ENSP00000413665.1
  ENSP00000498392.2
  ENSP00000498794.1
  ENSP00000499057.1
GenBank Protein Q02447 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001166183   ⟸   NM_001172712
- Peptide Label: isoform 3
- UniProtKB: B7ZLN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003102   ⟸   NM_003111
- Peptide Label: isoform 1
- UniProtKB: Q8WWU4 (UniProtKB/Swiss-Prot),   Q8TD56 (UniProtKB/Swiss-Prot),   Q69B27 (UniProtKB/Swiss-Prot),   Q69B26 (UniProtKB/Swiss-Prot),   B4E2B7 (UniProtKB/Swiss-Prot),   A0AVL9 (UniProtKB/Swiss-Prot),   Q9BQR1 (UniProtKB/Swiss-Prot),   Q02447 (UniProtKB/Swiss-Prot),   B7ZLN9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001017371   ⟸   NM_001017371
- Peptide Label: isoform 2
- UniProtKB: H0Y6K5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498794   ⟸   ENST00000650743
RefSeq Acc Id: ENSP00000499057   ⟸   ENST00000651846
RefSeq Acc Id: ENSP00000413665   ⟸   ENST00000416195
RefSeq Acc Id: ENSP00000310301   ⟸   ENST00000310015
RefSeq Acc Id: ENSP00000498392   ⟸   ENST00000652005
RefSeq Acc Id: ENSP00000406140   ⟸   ENST00000418194
Protein Domains
C2H2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q02447-F1-model_v2 AlphaFold Q02447 1-781 view protein structure

Promoters
RGD ID:6862054
Promoter ID:EPDNEW_H4192
Type:initiation region
Name:SP3_1
Description:Sp3 transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4193  EPDNEW_H4194  EPDNEW_H4195  EPDNEW_H4197  EPDNEW_H4196  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,963,880 - 173,963,940EPDNEW
RGD ID:6862056
Promoter ID:EPDNEW_H4193
Type:initiation region
Name:SP3_2
Description:Sp3 transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4192  EPDNEW_H4194  EPDNEW_H4195  EPDNEW_H4197  EPDNEW_H4196  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,964,220 - 173,964,280EPDNEW
RGD ID:6862058
Promoter ID:EPDNEW_H4194
Type:initiation region
Name:SP3_6
Description:Sp3 transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4192  EPDNEW_H4193  EPDNEW_H4195  EPDNEW_H4197  EPDNEW_H4196  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,964,537 - 173,964,597EPDNEW
RGD ID:6862060
Promoter ID:EPDNEW_H4195
Type:initiation region
Name:SP3_4
Description:Sp3 transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4192  EPDNEW_H4193  EPDNEW_H4194  EPDNEW_H4197  EPDNEW_H4196  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,965,373 - 173,965,433EPDNEW
RGD ID:6862084
Promoter ID:EPDNEW_H4196
Type:initiation region
Name:SP3_3
Description:Sp3 transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4192  EPDNEW_H4193  EPDNEW_H4194  EPDNEW_H4195  EPDNEW_H4197  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382173,965,864 - 173,965,924EPDNEW
RGD ID:6798241
Promoter ID:HG_KWN:35969
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000333999
Position:
Human AssemblyChrPosition (strand)Source
Build 362174,486,046 - 174,486,546 (-)MPROMDB
RGD ID:6798243
Promoter ID:HG_KWN:35970
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:NM_001017371,   NM_001172712,   NM_003111,   OTTHUMT00000333997,   OTTHUMT00000334000,   OTTHUMT00000334001,   OTTHUMT00000334002,   OTTHUMT00000334003
Position:
Human AssemblyChrPosition (strand)Source
Build 362174,536,016 - 174,539,667 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11208 AgrOrtholog
COSMIC SP3 COSMIC
Ensembl Genes ENSG00000172845 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000310015 ENTREZGENE
  ENST00000310015.12 UniProtKB/Swiss-Prot
  ENST00000416195 ENTREZGENE
  ENST00000416195.1 UniProtKB/TrEMBL
  ENST00000418194 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000418194.7 UniProtKB/Swiss-Prot
  ENST00000650743.1 UniProtKB/TrEMBL
  ENST00000651846.1 UniProtKB/TrEMBL
  ENST00000652005.2 UniProtKB/TrEMBL
Gene3D-CATH Classic Zinc Finger UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000172845 GTEx
HGNC ID HGNC:11208 ENTREZGENE
Human Proteome Map SP3 Human Proteome Map
InterPro Znf_C2H2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2H2_type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6670 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6670 ENTREZGENE
OMIM 601804 OMIM
PANTHER KRUEPPEL-LIKE TRANSCRIPTION FACTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR23235:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam zf-C2H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36045 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 A0A494C070_HUMAN UniProtKB/TrEMBL
  A0A494C0Z6_HUMAN UniProtKB/TrEMBL
  A0A494C1G8_HUMAN UniProtKB/TrEMBL
  A0AVL9 ENTREZGENE
  B4E2B7 ENTREZGENE
  B7ZLN9 ENTREZGENE, UniProtKB/TrEMBL
  H0Y6K5 ENTREZGENE, UniProtKB/TrEMBL
  H0Y7L6_HUMAN UniProtKB/TrEMBL
  Q02447 ENTREZGENE
  Q59FX5_HUMAN UniProtKB/TrEMBL
  Q69B26 ENTREZGENE
  Q69B27 ENTREZGENE
  Q86TP0_HUMAN UniProtKB/TrEMBL
  Q8TD56 ENTREZGENE
  Q8TE45_HUMAN UniProtKB/TrEMBL
  Q8WWU2_HUMAN UniProtKB/TrEMBL
  Q8WWU3_HUMAN UniProtKB/TrEMBL
  Q8WWU4 ENTREZGENE
  Q9BQR1 ENTREZGENE
  SP3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0AVL9 UniProtKB/Swiss-Prot
  B4E2B7 UniProtKB/Swiss-Prot
  Q69B26 UniProtKB/Swiss-Prot
  Q69B27 UniProtKB/Swiss-Prot
  Q8TD56 UniProtKB/Swiss-Prot
  Q8WWU4 UniProtKB/Swiss-Prot
  Q9BQR1 UniProtKB/Swiss-Prot