GAS2 (growth arrest specific 2) - Rat Genome Database

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Gene: GAS2 (growth arrest specific 2) Homo sapiens
Analyze
Symbol: GAS2
Name: growth arrest specific 2
RGD ID: 1348959
HGNC Page HGNC:4167
Description: Predicted to enable actin filament binding activity and cytoskeletal anchor activity. Predicted to be involved in actin crosslink formation. Predicted to act upstream of or within several processes, including ovarian follicle development; ovulation; and regulation of Notch signaling pathway. Predicted to be located in cytosol. Predicted to be active in actin filament.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: GAS-2; growth arrest-specific 2; growth arrest-specific protein 2; MGC32610
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
GRCh381122,626,002 - 22,813,055 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1122,625,509 - 22,813,001 (+)EnsemblGRCh38hg38GRCh38
GRCh371122,688,122 - 22,834,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,646,230 - 22,791,123 (+)NCBINCBI36Build 36hg18NCBI36
Build 341122,646,229 - 22,791,122NCBI
Celera1122,822,041 - 22,968,405 (+)NCBICelera
Cytogenetic Map11p14.3NCBI
HuRef1122,371,075 - 22,517,950 (+)NCBIHuRef
CHM1_11122,687,492 - 22,833,858 (+)NCBICHM1_1
T2T-CHM13v2.01122,746,758 - 22,933,721 (+)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
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,5-hexanedione  (ISO)
3',5'-cyclic UMP  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
aristolochic acid A  (ISO)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
C60 fullerene  (ISO)
caffeine  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
emodin  (EXP)
endosulfan  (ISO)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
malathion  (EXP)
methapyrilene  (ISO)
methimazole  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
N(4)-hydroxycytidine  (ISO)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tert-butyl hydroperoxide  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
trovafloxacin  (ISO)
tunicamycin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
venlafaxine hydrochloride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
actin filament  (IBA,IEA,TAS)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
membrane  (IEA)
stress fiber  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1056466   PMID:1607387   PMID:3409319   PMID:9521882   PMID:10564664   PMID:11337467   PMID:11387205   PMID:12477932   PMID:14702039   PMID:15124103   PMID:15489334   PMID:15817486  
PMID:16344560   PMID:20677014   PMID:20679491   PMID:21546767   PMID:21832049   PMID:21873635   PMID:24465953   PMID:25925944   PMID:26358320   PMID:27085973   PMID:29987050   PMID:30021884  
PMID:31528096   PMID:32296183   PMID:32457219   PMID:32572885   PMID:33103301   PMID:33964205   PMID:35944360   PMID:36054080  


Genomics

Comparative Map Data
GAS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381122,626,002 - 22,813,055 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1122,625,509 - 22,813,001 (+)EnsemblGRCh38hg38GRCh38
GRCh371122,688,122 - 22,834,601 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361122,646,230 - 22,791,123 (+)NCBINCBI36Build 36hg18NCBI36
Build 341122,646,229 - 22,791,122NCBI
Celera1122,822,041 - 22,968,405 (+)NCBICelera
Cytogenetic Map11p14.3NCBI
HuRef1122,371,075 - 22,517,950 (+)NCBIHuRef
CHM1_11122,687,492 - 22,833,858 (+)NCBICHM1_1
T2T-CHM13v2.01122,746,758 - 22,933,721 (+)NCBIT2T-CHM13v2.0
Gas2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39751,511,560 - 51,644,753 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl751,511,763 - 51,644,723 (+)EnsemblGRCm39 Ensembl
GRCm38751,861,791 - 51,995,005 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl751,862,015 - 51,994,975 (+)EnsemblGRCm38mm10GRCm38
MGSCv37759,134,515 - 59,249,828 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36751,747,164 - 51,862,477 (+)NCBIMGSCv36mm8
Celera749,252,262 - 49,365,402 (+)NCBICelera
Cytogenetic Map7B4NCBI
cM Map732.87NCBI
Gas2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81110,587,952 - 110,721,572 (+)NCBIGRCr8
mRatBN7.21101,452,361 - 101,582,619 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1101,482,591 - 101,582,619 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1106,891,445 - 106,991,464 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01115,363,339 - 115,463,358 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01108,666,556 - 108,766,696 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01107,234,389 - 107,363,624 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1107,262,659 - 107,363,788 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01108,275,144 - 108,405,240 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41101,697,265 - 101,798,495 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera195,649,226 - 95,749,292 (+)NCBICelera
Cytogenetic Map1q22NCBI
Gas2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554763,100,479 - 3,226,262 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554763,092,461 - 3,226,269 (+)NCBIChiLan1.0ChiLan1.0
GAS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2924,914,966 - 25,099,422 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11124,879,135 - 25,065,347 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01122,639,677 - 22,822,208 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11122,547,301 - 22,729,241 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1122,583,367 - 22,729,243 (+)Ensemblpanpan1.1panPan2
GAS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12144,277,996 - 44,406,210 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2144,286,531 - 44,405,060 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2143,753,331 - 43,880,913 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02145,395,215 - 45,524,757 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2145,372,654 - 45,524,740 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12144,395,431 - 44,522,737 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02144,567,541 - 44,695,231 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02144,960,441 - 45,088,773 (+)NCBIUU_Cfam_GSD_1.0
Gas2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494740,477,656 - 40,600,129 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366543,326,511 - 3,448,872 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366543,326,557 - 3,448,930 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl236,711,612 - 36,885,620 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1236,712,758 - 36,885,436 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2239,823,080 - 39,928,195 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GAS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1142,201,546 - 42,376,934 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666038139,505,960 - 139,648,400 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gas2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476613,612,702 - 13,741,606 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476613,610,229 - 13,741,604 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GAS2
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1 copy number loss See cases [RCV000052647] Chr11:22115602..25375696 [GRCh38]
Chr11:22137148..25397242 [GRCh37]
Chr11:22093724..25353818 [NCBI36]
Chr11:11p14.3
pathogenic
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1 copy number loss See cases [RCV000052648] Chr11:22550115..38199159 [GRCh38]
Chr11:22571661..38220709 [GRCh37]
Chr11:22528237..38177285 [NCBI36]
Chr11:11p14.3-12
pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13
pathogenic
NM_001143830.1(GAS2):c.497T>C (p.Leu166Ser) single nucleotide variant Malignant melanoma [RCV000069301] Chr11:22749143 [GRCh38]
Chr11:22770689 [GRCh37]
Chr11:22727265 [NCBI36]
Chr11:11p14.3
not provided
NM_001143830.1(GAS2):c.637C>A (p.Pro213Thr) single nucleotide variant Malignant melanoma [RCV000062189] Chr11:22755867 [GRCh38]
Chr11:22777413 [GRCh37]
Chr11:22733989 [NCBI36]
Chr11:11p14.3
not provided
NM_001143830.1(GAS2):c.723+12527G>A single nucleotide variant Lung cancer [RCV000109933] Chr11:22768480 [GRCh38]
Chr11:22790026 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.1(GAS2):c.723+12931T>C single nucleotide variant Lung cancer [RCV000109934] Chr11:22768884 [GRCh38]
Chr11:22790430 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.1(GAS2):c.267+14662G>A single nucleotide variant Lung cancer [RCV000109931] Chr11:22700451 [GRCh38]
Chr11:22721997 [GRCh37]
Chr11:11p14.3
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3 copy number gain See cases [RCV000137849] Chr11:21838014..26738627 [GRCh38]
Chr11:21859560..26760174 [GRCh37]
Chr11:21816136..26716750 [NCBI36]
Chr11:11p15.1-14.2
uncertain significance
GRCh38/hg38 11p14.3(chr11:22195749-22953436)x1 copy number loss See cases [RCV000140704] Chr11:22195749..22953436 [GRCh38]
Chr11:22217295..22974982 [GRCh37]
Chr11:22173871..22931558 [NCBI36]
Chr11:11p14.3
uncertain significance
GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1 copy number loss See cases [RCV000142499] Chr11:20079474..34463996 [GRCh38]
Chr11:20101020..34485543 [GRCh37]
Chr11:20057596..34442119 [NCBI36]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p14.3(chr11:22646794-22851268)x3 copy number gain Ductal breast carcinoma [RCV000207141] Chr11:22646794..22851268 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1 copy number loss Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome [RCV000435400] Chr11:21586131..33168232 [GRCh37]
Chr11:11p15.1-13
pathogenic
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p14.3(chr11:22026376-23809369)x3 copy number gain not provided [RCV000585511] Chr11:22026376..23809369 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3
pathogenic
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13
pathogenic
Single allele deletion not provided [RCV000677987] Chr11:22219999..22687901 [GRCh38]
Chr11:22241544..22709446 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001143830.3(GAS2):c.487C>A (p.Pro163Thr) single nucleotide variant Inborn genetic diseases [RCV003244478] Chr11:22749133 [GRCh38]
Chr11:22770679 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1 copy number loss not provided [RCV000848170] Chr11:22024933..22717219 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22024933-22717219)x1 copy number loss not provided [RCV000848171] Chr11:22024933..22717219 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1 copy number loss not provided [RCV000849589] Chr11:22079154..35597645 [GRCh37]
Chr11:11p14.3-13
pathogenic
GRCh37/hg19 11p14.3(chr11:22668315-23047939)x1 copy number loss not provided [RCV000848209] Chr11:22668315..23047939 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p15.1-14.3(chr11:21370750-23441691)x4 copy number gain not provided [RCV000847535] Chr11:21370750..23441691 [GRCh37]
Chr11:11p15.1-14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22619798-23441691)x1 copy number loss not provided [RCV000846067] Chr11:22619798..23441691 [GRCh37]
Chr11:11p14.3
pathogenic
GRCh37/hg19 11p14.3(chr11:22240672-22739036)x1 copy number loss not provided [RCV001006394] Chr11:22240672..22739036 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.3(GAS2):c.477T>C (p.Tyr159=) single nucleotide variant not provided [RCV000962118] Chr11:22749123 [GRCh38]
Chr11:22770669 [GRCh37]
Chr11:11p14.3
benign
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13
pathogenic
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13
pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1
pathogenic
GRCh37/hg19 11p14.3(chr11:22290214-23743998)x3 copy number gain not provided [RCV001006395] Chr11:22290214..23743998 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22501364-22701957)x3 copy number gain not provided [RCV001259576] Chr11:22501364..22701957 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22711002-22981254)x3 copy number gain not provided [RCV001836516] Chr11:22711002..22981254 [GRCh37]
Chr11:11p14.3
likely benign
GRCh37/hg19 11p14.3(chr11:22469479-22724326) copy number gain not specified [RCV002052918] Chr11:22469479..22724326 [GRCh37]
Chr11:11p14.3
uncertain significance
NC_000011.10:g.22626004A>G single nucleotide variant not provided [RCV001643271] Chr11:22626004 [GRCh38]
Chr11:22647550 [GRCh37]
Chr11:11p14.3
benign
NC_000011.10:g.22626136_22626140dup duplication not provided [RCV001669838] Chr11:22626135..22626136 [GRCh38]
Chr11:22647681..22647682 [GRCh37]
Chr11:11p14.3
benign
NM_001143830.3(GAS2):c.311C>T (p.Ser104Leu) single nucleotide variant Inborn genetic diseases [RCV003252918] Chr11:22726335 [GRCh38]
Chr11:22747881 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2
pathogenic
GRCh37/hg19 11p14.3(chr11:22678758-23584615)x1 copy number loss See cases [RCV002292392] Chr11:22678758..23584615 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.3(GAS2):c.245T>A (p.Met82Lys) single nucleotide variant Inborn genetic diseases [RCV003303974] Chr11:22685767 [GRCh38]
Chr11:22707313 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22582555-23040011)x3 copy number gain not provided [RCV002473567] Chr11:22582555..23040011 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_148893.3(SVIP):c.153A>T (p.Arg51Ser) single nucleotide variant Inborn genetic diseases [RCV002751874] Chr11:22827273 [GRCh38]
Chr11:22848819 [GRCh37]
Chr11:11p14.3
uncertain significance
GRCh37/hg19 11p14.3(chr11:22501365-22701807)x3 copy number gain not provided [RCV002475644] Chr11:22501365..22701807 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.3(GAS2):c.869C>G (p.Thr290Ser) single nucleotide variant Inborn genetic diseases [RCV003001713] Chr11:22811943 [GRCh38]
Chr11:22833489 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.3(GAS2):c.916T>G (p.Tyr306Asp) single nucleotide variant Inborn genetic diseases [RCV002950564] Chr11:22811990 [GRCh38]
Chr11:22833536 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.3(GAS2):c.880A>G (p.Met294Val) single nucleotide variant Inborn genetic diseases [RCV002666390] Chr11:22811954 [GRCh38]
Chr11:22833500 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.3(GAS2):c.574T>C (p.Ser192Pro) single nucleotide variant Inborn genetic diseases [RCV002723596] Chr11:22749220 [GRCh38]
Chr11:22770766 [GRCh37]
Chr11:11p14.3
uncertain significance
NM_001143830.3(GAS2):c.655A>T (p.Asn219Tyr) single nucleotide variant Inborn genetic diseases [RCV003361828] Chr11:22755885 [GRCh38]
Chr11:22777431 [GRCh37]
Chr11:11p14.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1811
Count of miRNA genes:678
Interacting mature miRNAs:772
Transcripts:ENST00000278187, ENST00000433790, ENST00000454584, ENST00000524701, ENST00000526665, ENST00000528582, ENST00000532398, ENST00000533092, ENST00000533363, ENST00000534801
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
RH121950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,747,644 - 22,747,914UniSTSGRCh37
Build 361122,704,220 - 22,704,490RGDNCBI36
Celera1122,881,501 - 22,881,771RGD
Cytogenetic Map11p14.3UniSTS
HuRef1122,430,546 - 22,430,816UniSTS
TNG Radiation Hybrid Map1110865.0UniSTS
D11S3519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,821,222 - 22,821,346UniSTSGRCh37
Build 361122,777,798 - 22,777,922RGDNCBI36
Celera1122,955,078 - 22,955,202RGD
Cytogenetic Map11p14.3UniSTS
SHGC-105084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,714,827 - 22,715,139UniSTSGRCh37
Build 361122,671,403 - 22,671,715RGDNCBI36
Celera1122,848,681 - 22,848,993RGD
Cytogenetic Map11p14.3UniSTS
HuRef1122,397,717 - 22,398,029UniSTS
TNG Radiation Hybrid Map1110857.0UniSTS
SHGC-105087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,714,943 - 22,715,288UniSTSGRCh37
Build 361122,671,519 - 22,671,864RGDNCBI36
Celera1122,848,797 - 22,849,142RGD
Cytogenetic Map11p14.3UniSTS
HuRef1122,397,833 - 22,398,178UniSTS
TNG Radiation Hybrid Map1110854.0UniSTS
GAS2_660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,833,808 - 22,834,587UniSTSGRCh37
Build 361122,790,384 - 22,791,163RGDNCBI36
Celera1122,967,663 - 22,968,445RGD
HuRef1122,517,208 - 22,517,990UniSTS
RH68529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371122,822,778 - 22,822,956UniSTSGRCh37
Build 361122,779,354 - 22,779,532RGDNCBI36
Celera1122,956,634 - 22,956,812RGD
Cytogenetic Map11p14.3UniSTS
HuRef1122,506,179 - 22,506,357UniSTS
GeneMap99-GB4 RH Map1183.89UniSTS


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 adipose tissue appendage entire extraembryonic component
High
Medium 7 8 216 212 256 212 158 6 217 34 10 31 152
Low 2195 1961 1391 370 751 236 2944 2058 3308 311 1208 1329 136 571 2132 1
Below cutoff 220 903 110 37 801 12 1246 124 173 61 190 219 29 633 503 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001143830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001351224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_177553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_147085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011519975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047426750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI374985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU099094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR450285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA345287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000278187   ⟹   ENSP00000278187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,668,108 - 22,812,996 (+)Ensembl
RefSeq Acc Id: ENST00000454584   ⟹   ENSP00000401145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,666,611 - 22,813,001 (+)Ensembl
RefSeq Acc Id: ENST00000524701   ⟹   ENSP00000432026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,668,108 - 22,813,001 (+)Ensembl
RefSeq Acc Id: ENST00000526665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,755,648 - 22,755,953 (+)Ensembl
RefSeq Acc Id: ENST00000528582   ⟹   ENSP00000432584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,625,642 - 22,749,190 (+)Ensembl
RefSeq Acc Id: ENST00000532398   ⟹   ENSP00000435946
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,674,773 - 22,749,261 (+)Ensembl
RefSeq Acc Id: ENST00000533092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,666,583 - 22,702,630 (+)Ensembl
RefSeq Acc Id: ENST00000533363   ⟹   ENSP00000434478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,667,076 - 22,726,432 (+)Ensembl
RefSeq Acc Id: ENST00000534801   ⟹   ENSP00000433182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,672,577 - 22,737,760 (+)Ensembl
RefSeq Acc Id: ENST00000630668   ⟹   ENSP00000485708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,668,108 - 22,731,347 (+)Ensembl
RefSeq Acc Id: ENST00000648096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1122,625,509 - 22,626,403 (+)Ensembl
RefSeq Acc Id: NM_001143830   ⟹   NP_001137302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,813,001 (+)NCBI
GRCh371122,688,160 - 22,834,547 (+)RGD
Celera1122,822,041 - 22,968,405 (+)RGD
HuRef1122,371,075 - 22,517,950 (+)ENTREZGENE
CHM1_11122,687,492 - 22,833,858 (+)NCBI
T2T-CHM13v2.01122,787,272 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001351224   ⟹   NP_001338153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,813,001 (+)NCBI
T2T-CHM13v2.01122,787,272 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391933   ⟹   NP_001378862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,668,696 - 22,813,001 (+)NCBI
T2T-CHM13v2.01122,789,357 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391934   ⟹   NP_001378863
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,813,001 (+)NCBI
T2T-CHM13v2.01122,787,272 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391935   ⟹   NP_001378864
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,672,616 - 22,813,001 (+)NCBI
T2T-CHM13v2.01122,793,265 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391936   ⟹   NP_001378865
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,668,696 - 22,813,001 (+)NCBI
T2T-CHM13v2.01122,789,357 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391937   ⟹   NP_001378866
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,576 - 22,813,001 (+)NCBI
T2T-CHM13v2.01122,787,237 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005256   ⟹   NP_005247
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,674,774 - 22,813,001 (+)NCBI
GRCh371122,688,160 - 22,834,547 (+)RGD
Build 361122,652,931 - 22,791,123 (+)NCBI Archive
Celera1122,822,041 - 22,968,405 (+)RGD
HuRef1122,371,075 - 22,517,950 (+)ENTREZGENE
CHM1_11122,695,640 - 22,833,858 (+)NCBI
T2T-CHM13v2.01122,795,424 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NM_177553   ⟹   NP_808221
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,668,108 - 22,813,001 (+)NCBI
GRCh371122,688,160 - 22,834,547 (+)RGD
Build 361122,646,230 - 22,791,123 (+)NCBI Archive
Celera1122,822,041 - 22,968,405 (+)RGD
HuRef1122,371,075 - 22,517,950 (+)ENTREZGENE
CHM1_11122,688,986 - 22,833,858 (+)NCBI
T2T-CHM13v2.01122,788,769 - 22,933,667 (+)NCBI
Sequence:
RefSeq Acc Id: NR_147085
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,813,055 (+)NCBI
T2T-CHM13v2.01122,787,272 - 22,933,721 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519971   ⟹   XP_011518273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,813,055 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519972   ⟹   XP_011518274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,626,002 - 22,813,055 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011519975   ⟹   XP_011518277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,761,816 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047426744   ⟹   XP_047282700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,813,055 (+)NCBI
RefSeq Acc Id: XM_047426745   ⟹   XP_047282701
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,626,002 - 22,813,055 (+)NCBI
RefSeq Acc Id: XM_047426746   ⟹   XP_047282702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,626,002 - 22,813,055 (+)NCBI
RefSeq Acc Id: XM_047426747   ⟹   XP_047282703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,813,055 (+)NCBI
RefSeq Acc Id: XM_047426749   ⟹   XP_047282705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,766,434 (+)NCBI
RefSeq Acc Id: XM_047426750   ⟹   XP_047282706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,611 - 22,766,434 (+)NCBI
RefSeq Acc Id: XM_054368382   ⟹   XP_054224357
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,787,272 - 22,933,721 (+)NCBI
RefSeq Acc Id: XM_054368383   ⟹   XP_054224358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,787,272 - 22,933,721 (+)NCBI
RefSeq Acc Id: XM_054368384   ⟹   XP_054224359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,748,704 - 22,933,721 (+)NCBI
RefSeq Acc Id: XM_054368385   ⟹   XP_054224360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,748,704 - 22,933,721 (+)NCBI
RefSeq Acc Id: XM_054368386   ⟹   XP_054224361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,787,276 - 22,933,721 (+)NCBI
RefSeq Acc Id: XM_054368387   ⟹   XP_054224362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,746,758 - 22,933,721 (+)NCBI
RefSeq Acc Id: XM_054368390   ⟹   XP_054224365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,787,272 - 22,887,069 (+)NCBI
RefSeq Acc Id: XM_054368391   ⟹   XP_054224366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,787,272 - 22,887,069 (+)NCBI
RefSeq Acc Id: XM_054368392   ⟹   XP_054224367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01122,787,272 - 22,882,460 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001137302 (Get FASTA)   NCBI Sequence Viewer  
  NP_001338153 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378862 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378863 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378864 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378865 (Get FASTA)   NCBI Sequence Viewer  
  NP_001378866 (Get FASTA)   NCBI Sequence Viewer  
  NP_005247 (Get FASTA)   NCBI Sequence Viewer  
  NP_808221 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518273 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518274 (Get FASTA)   NCBI Sequence Viewer  
  XP_011518277 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282700 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282701 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282702 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282703 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282705 (Get FASTA)   NCBI Sequence Viewer  
  XP_047282706 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224357 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224358 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224359 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224360 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224361 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224362 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224365 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224366 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224367 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC52058 (Get FASTA)   NCBI Sequence Viewer  
  AAH05077 (Get FASTA)   NCBI Sequence Viewer  
  AAH13326 (Get FASTA)   NCBI Sequence Viewer  
  AAH40470 (Get FASTA)   NCBI Sequence Viewer  
  BAG36475 (Get FASTA)   NCBI Sequence Viewer  
  CAG29281 (Get FASTA)   NCBI Sequence Viewer  
  EAW68317 (Get FASTA)   NCBI Sequence Viewer  
  EAW68318 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000278187
  ENSP00000278187.3
  ENSP00000401145
  ENSP00000401145.2
  ENSP00000432026.1
  ENSP00000432584.1
  ENSP00000433182.1
  ENSP00000434478.1
  ENSP00000435946
  ENSP00000435946.1
  ENSP00000485708.1
GenBank Protein O43903 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001137302   ⟸   NM_001143830
- Peptide Label: isoform a
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_808221   ⟸   NM_177553
- Peptide Label: isoform a
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005247   ⟸   NM_005256
- Peptide Label: isoform a
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011518274   ⟸   XM_011519972
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011518273   ⟸   XM_011519971
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011518277   ⟸   XM_011519975
- Peptide Label: isoform X4
- UniProtKB: E9PRR5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001338153   ⟸   NM_001351224
- Peptide Label: isoform b
- UniProtKB: E9PRR5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000435946   ⟸   ENST00000532398
RefSeq Acc Id: ENSP00000434478   ⟸   ENST00000533363
RefSeq Acc Id: ENSP00000401145   ⟸   ENST00000454584
RefSeq Acc Id: ENSP00000433182   ⟸   ENST00000534801
RefSeq Acc Id: ENSP00000432026   ⟸   ENST00000524701
RefSeq Acc Id: ENSP00000485708   ⟸   ENST00000630668
RefSeq Acc Id: ENSP00000432584   ⟸   ENST00000528582
RefSeq Acc Id: ENSP00000278187   ⟸   ENST00000278187
RefSeq Acc Id: NP_001378866   ⟸   NM_001391937
- Peptide Label: isoform a
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001378863   ⟸   NM_001391934
- Peptide Label: isoform a
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001378862   ⟸   NM_001391933
- Peptide Label: isoform c
RefSeq Acc Id: NP_001378865   ⟸   NM_001391936
- Peptide Label: isoform a
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001378864   ⟸   NM_001391935
- Peptide Label: isoform a
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282701   ⟸   XM_047426745
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047282702   ⟸   XM_047426746
- Peptide Label: isoform X2
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282700   ⟸   XM_047426744
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047282703   ⟸   XM_047426747
- Peptide Label: isoform X2
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047282706   ⟸   XM_047426750
- Peptide Label: isoform X4
- UniProtKB: E9PRR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047282705   ⟸   XM_047426749
- Peptide Label: isoform X4
- UniProtKB: E9PRR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224362   ⟸   XM_054368387
- Peptide Label: isoform X2
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054224359   ⟸   XM_054368384
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224360   ⟸   XM_054368385
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224358   ⟸   XM_054368383
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224357   ⟸   XM_054368382
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054224366   ⟸   XM_054368391
- Peptide Label: isoform X4
- UniProtKB: E9PRR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224365   ⟸   XM_054368390
- Peptide Label: isoform X4
- UniProtKB: E9PRR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224367   ⟸   XM_054368392
- Peptide Label: isoform X4
- UniProtKB: E9PRR5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224361   ⟸   XM_054368386
- Peptide Label: isoform X2
- UniProtKB: Q6ICV8 (UniProtKB/Swiss-Prot),   O43903 (UniProtKB/Swiss-Prot),   D3DQZ0 (UniProtKB/Swiss-Prot),   B2R9C8 (UniProtKB/Swiss-Prot),   Q7Z3X8 (UniProtKB/Swiss-Prot)
Protein Domains
Calponin-homology (CH)   GAR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43903-F1-model_v2 AlphaFold O43903 1-313 view protein structure

Promoters
RGD ID:7219861
Promoter ID:EPDNEW_H15676
Type:initiation region
Name:GAS2_4
Description:growth arrest specific 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15678  EPDNEW_H15677  EPDNEW_H15679  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,625,598 - 22,625,658EPDNEW
RGD ID:6788959
Promoter ID:HG_KWN:12495
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC009YIE.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361122,644,769 - 22,645,269 (+)MPROMDB
RGD ID:6788957
Promoter ID:HG_KWN:12496
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001MQM.1,   UC001MQN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361122,645,281 - 22,646,482 (+)MPROMDB
RGD ID:6788958
Promoter ID:HG_KWN:12497
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001MQO.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361122,652,846 - 22,653,346 (+)MPROMDB
RGD ID:7219865
Promoter ID:EPDNEW_H15677
Type:initiation region
Name:GAS2_3
Description:growth arrest specific 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15676  EPDNEW_H15678  EPDNEW_H15679  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,666,620 - 22,666,680EPDNEW
RGD ID:7219863
Promoter ID:EPDNEW_H15678
Type:initiation region
Name:GAS2_1
Description:growth arrest specific 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15676  EPDNEW_H15677  EPDNEW_H15679  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,668,108 - 22,668,168EPDNEW
RGD ID:7219867
Promoter ID:EPDNEW_H15679
Type:initiation region
Name:GAS2_2
Description:growth arrest specific 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15676  EPDNEW_H15678  EPDNEW_H15677  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381122,674,848 - 22,674,908EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4167 AgrOrtholog
COSMIC GAS2 COSMIC
Ensembl Genes ENSG00000148935 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000278187 ENTREZGENE
  ENST00000278187.7 UniProtKB/Swiss-Prot
  ENST00000454584 ENTREZGENE
  ENST00000454584.7 UniProtKB/Swiss-Prot
  ENST00000524701.5 UniProtKB/Swiss-Prot
  ENST00000528582.5 UniProtKB/TrEMBL
  ENST00000532398 ENTREZGENE
  ENST00000532398.1 UniProtKB/TrEMBL
  ENST00000533363.5 UniProtKB/TrEMBL
  ENST00000534801.5 UniProtKB/TrEMBL
  ENST00000630668.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.418.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.920.20 UniProtKB/Swiss-Prot
GTEx ENSG00000148935 GTEx
HGNC ID HGNC:4167 ENTREZGENE
Human Proteome Map GAS2 Human Proteome Map
InterPro CH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CH_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAR_dom UniProtKB/Swiss-Prot
  GAR_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:2620 UniProtKB/Swiss-Prot
NCBI Gene 2620 ENTREZGENE
OMIM 602835 OMIM
PANTHER PTHR46756:SF9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSGELIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GAS2 UniProtKB/Swiss-Prot
  PF00307 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28580 PharmGKB
PROSITE GAR UniProtKB/Swiss-Prot
  PS50021 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GAS2 UniProtKB/Swiss-Prot
  SM00033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF143575 UniProtKB/Swiss-Prot
  SSF47576 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R9C8 ENTREZGENE
  D3DQZ0 ENTREZGENE
  E9PM28_HUMAN UniProtKB/TrEMBL
  E9PQ37_HUMAN UniProtKB/TrEMBL
  E9PQ74_HUMAN UniProtKB/TrEMBL
  E9PRR5 ENTREZGENE, UniProtKB/TrEMBL
  GAS2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6ICV8 ENTREZGENE
  Q7Z3X8 ENTREZGENE
UniProt Secondary B2R9C8 UniProtKB/Swiss-Prot
  D3DQZ0 UniProtKB/Swiss-Prot
  Q6ICV8 UniProtKB/Swiss-Prot
  Q7Z3X8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 GAS2  growth arrest specific 2  GAS2  growth arrest-specific 2  Symbol and/or name change 5135510 APPROVED