ACSS2 (acyl-CoA synthetase short chain family member 2) - Rat Genome Database

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Gene: ACSS2 (acyl-CoA synthetase short chain family member 2) Homo sapiens
Analyze
Symbol: ACSS2
Name: acyl-CoA synthetase short chain family member 2
RGD ID: 1313544
HGNC Page HGNC:15814
Description: Enables acetate-CoA ligase activity. Involved in lipid biosynthetic process. Located in cytosol and nucleoplasm. Implicated in orofacial cleft. Biomarker of lymphangioleiomyomatosis and morbid obesity.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACAS2; ACECS; AceCS1; acetate thiokinase; acetate--CoA ligase; acetate-CoA ligase; acetyl-CoA synthetase 1; acetyl-Coenzyme A synthetase 2 (ADP forming); acetyl-coenzyme A synthetase, cytoplasmic; ACS; ACSA; acyl-activating enzyme; acyl-CoA synthetase short-chain family member 2; cytoplasmic acetyl-coenzyme A synthetase; dJ1161H23.1; DKFZp762G026; propionate--CoA ligase
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
GRCh382034,874,989 - 34,927,959 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2034,872,146 - 34,927,962 (+)EnsemblGRCh38hg38GRCh38
GRCh372033,462,792 - 33,515,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,926,406 - 32,979,423 (+)NCBINCBI36Build 36hg18NCBI36
Build 342032,926,501 - 32,979,423NCBI
Celera2030,211,860 - 30,264,862 (+)NCBICelera
Cytogenetic Map20q11.22NCBI
HuRef2030,241,182 - 30,294,089 (+)NCBIHuRef
CHM1_12033,364,136 - 33,416,989 (+)NCBICHM1_1
T2T-CHM13v2.02036,595,630 - 36,648,613 (+)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)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,4-dichloroaniline  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
aldrin  (ISO)
all-trans-retinoic acid  (EXP)
all-trans-retinol  (ISO)
alpha-phellandrene  (EXP)
alpha-pinene  (EXP)
amiodarone  (ISO)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroethene  (ISO)
chloroprene  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
cyclosporin A  (EXP,ISO)
DDT  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
disulfiram  (EXP)
diuron  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
fenofibrate  (EXP)
ferric oxide  (ISO)
folic acid  (ISO)
Ganoderic acid A  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
indometacin  (EXP)
isobutanol  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (ISO)
lovastatin  (ISO)
manganese(II) chloride  (ISO)
methotrexate  (EXP)
methylparaben  (EXP)
miconazole  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (ISO)
oxybenzone  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
ritonavir  (ISO)
rotenone  (EXP,ISO)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tolcapone  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (ISO)
Triptolide  (ISO)
troglitazone  (EXP)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
Yessotoxin  (EXP)
zoledronic acid  (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. Using Whole Exome Sequencing to Identify Candidate Genes With Rare Variants In Nonsyndromic Cleft Lip and Palate. Aylward A, etal., Genet Epidemiol. 2016 Jul;40(5):432-41. doi: 10.1002/gepi.21972. Epub 2016 May 27.
2. ACSS2 gene variant associated with cleft lip and palate in two independent Hispanic populations. Dodhia S, etal., Laryngoscope. 2017 Oct;127(10):E336-E339. doi: 10.1002/lary.26637. Epub 2017 May 23.
3. De novo lipogenesis in adipose tissue is associated with course of morbid obesity after bariatric surgery. Garrido-Sánchez L, etal., PLoS One. 2012;7(2):e31280. doi: 10.1371/journal.pone.0031280. Epub 2012 Feb 23.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. In situ analysis of mTORC1/2 and cellular metabolism-related proteins in human Lymphangioleiomyomatosis. Krencz I, etal., Hum Pathol. 2018 Sep;79:199-207. doi: 10.1016/j.humpath.2018.05.018. Epub 2018 Jun 6.
6. Glucose-independent Acetate Metabolism Promotes Melanoma Cell Survival and Tumor Growth. Lakhter AJ, etal., J Biol Chem. 2016 Oct 14;291(42):21869-21879. doi: 10.1074/jbc.M115.712166. Epub 2016 Aug 18.
7. Ketone body production is differentially altered in steatosis and non-alcoholic steatohepatitis in obese humans. Männistö VT, etal., Liver Int. 2015 Jul;35(7):1853-61. doi: 10.1111/liv.12769. Epub 2015 Jan 20.
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genome. Watkins PA, etal., J Lipid Res. 2007 Dec;48(12):2736-50. Epub 2007 Aug 30.
Additional References at PubMed
PMID:10843999   PMID:11780052   PMID:12477932   PMID:14702039   PMID:15231747   PMID:15489334   PMID:16344560   PMID:16788062   PMID:18029348   PMID:18660489   PMID:19617323   PMID:19913121  
PMID:20353815   PMID:20416077   PMID:20628086   PMID:21873635   PMID:25108527   PMID:25525877   PMID:25525878   PMID:25584894   PMID:26344197   PMID:26381042   PMID:26496610   PMID:27713423  
PMID:28003429   PMID:28099844   PMID:28167750   PMID:28550509   PMID:28552616   PMID:28820290   PMID:29281714   PMID:29444517   PMID:29457784   PMID:29503142   PMID:31076106   PMID:31730405  
PMID:31814569   PMID:32416067   PMID:32513696   PMID:33961781   PMID:34343565   PMID:35190642   PMID:35509820   PMID:35777482   PMID:35831314   PMID:35944360  


Genomics

Comparative Map Data
ACSS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382034,874,989 - 34,927,959 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2034,872,146 - 34,927,962 (+)EnsemblGRCh38hg38GRCh38
GRCh372033,462,792 - 33,515,762 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362032,926,406 - 32,979,423 (+)NCBINCBI36Build 36hg18NCBI36
Build 342032,926,501 - 32,979,423NCBI
Celera2030,211,860 - 30,264,862 (+)NCBICelera
Cytogenetic Map20q11.22NCBI
HuRef2030,241,182 - 30,294,089 (+)NCBIHuRef
CHM1_12033,364,136 - 33,416,989 (+)NCBICHM1_1
T2T-CHM13v2.02036,595,630 - 36,648,613 (+)NCBIT2T-CHM13v2.0
Acss2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392155,359,963 - 155,404,663 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2155,359,868 - 155,427,644 (+)EnsemblGRCm39 Ensembl
GRCm382155,518,043 - 155,562,743 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2155,517,948 - 155,585,724 (+)EnsemblGRCm38mm10GRCm38
MGSCv372155,343,779 - 155,388,479 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362155,209,484 - 155,254,184 (+)NCBIMGSCv36mm8
Celera2161,450,232 - 161,494,992 (+)NCBICelera
Cytogenetic Map2H1NCBI
Acss2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23144,003,808 - 144,047,452 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3144,004,336 - 144,059,675 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3147,870,984 - 147,913,977 (+)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.03156,488,259 - 156,531,254 (+)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.03154,227,791 - 154,270,788 (+)NCBIRnor_WKY
Rnor_6.03151,032,925 - 151,075,856 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3151,032,952 - 151,075,856 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03157,400,353 - 157,443,341 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43146,013,995 - 146,057,119 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13145,919,548 - 145,962,044 (+)NCBI
Celera3142,729,140 - 142,772,009 (+)NCBICelera
Cytogenetic Map3q42NCBI
Acss2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542226,451,598 - 26,500,546 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542226,450,899 - 26,500,336 (-)NCBIChiLan1.0ChiLan1.0
ACSS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12032,329,706 - 32,381,274 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2032,329,721 - 32,380,526 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02031,205,104 - 31,256,263 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ACSS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12423,928,800 - 23,973,383 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2423,928,838 - 23,972,651 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2423,575,057 - 23,619,550 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02424,620,738 - 24,665,236 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2424,620,678 - 24,668,479 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12423,908,064 - 23,952,517 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02424,003,357 - 24,047,830 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02424,442,065 - 24,486,750 (+)NCBIUU_Cfam_GSD_1.0
Acss2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640172,906,912 - 172,955,145 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365615,795,077 - 5,842,676 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049365615,794,685 - 5,842,619 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACSS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1738,260,147 - 38,315,757 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11738,260,152 - 38,315,764 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21743,455,051 - 43,510,660 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACSS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1239,181,446 - 39,230,164 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl239,181,468 - 39,229,444 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605087,582,705 - 87,633,586 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acss2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248424,471,360 - 4,522,849 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248424,470,551 - 4,523,174 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACSS2
6 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12
pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11
pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12
pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33
pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23
pathogenic
GRCh38/hg38 20q11.22(chr20:34796981-34952986)x3 copy number gain See cases [RCV000138924] Chr20:34796981..34952986 [GRCh38]
Chr20:33384784..33540789 [GRCh37]
Chr20:32848445..33004450 [NCBI36]
Chr20:20q11.22
likely benign
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV000708204] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22
uncertain significance
NM_018677.4(ACSS2):c.1487T>C (p.Val496Ala) single nucleotide variant Nonsyndromic cleft lip palate [RCV000755123] Chr20:34921805 [GRCh38]
Chr20:33509608 [GRCh37]
Chr20:20q11.22
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20q11.22(chr20:33449560-33570007)x3 copy number gain not provided [RCV000741182] Chr20:33449560..33570007 [GRCh37]
Chr20:20q11.22
benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33
pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_018677.4(ACSS2):c.898T>A (p.Cys300Ser) single nucleotide variant not provided [RCV000961695] Chr20:34919498 [GRCh38]
Chr20:33507301 [GRCh37]
Chr20:20q11.22
benign
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23
pathogenic
NM_018677.4(ACSS2):c.1359G>C (p.Val453=) single nucleotide variant not provided [RCV000914601] Chr20:34921411 [GRCh38]
Chr20:33509214 [GRCh37]
Chr20:20q11.22
likely benign
NM_018677.4(ACSS2):c.124C>A (p.Pro42Thr) single nucleotide variant not provided [RCV000962791] Chr20:34876769 [GRCh38]
Chr20:33464572 [GRCh37]
Chr20:20q11.22
benign
NM_018677.4(ACSS2):c.1758A>G (p.Ser586=) single nucleotide variant not provided [RCV000914793] Chr20:34926136 [GRCh38]
Chr20:33513939 [GRCh37]
Chr20:20q11.22
benign
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV001300227] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22
uncertain significance
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) copy number gain not specified [RCV002052709] Chr20:25442597..33761550 [GRCh37]
Chr20:20p11.21-q11.22
pathogenic
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22
likely pathogenic
NC_000020.10:g.(?_31189994)_(34287210_?)del deletion not provided [RCV001956104] Chr20:31189994..34287210 [GRCh37]
Chr20:20q11.21-11.22
pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23
likely pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23
likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9295
Count of miRNA genes:1281
Interacting mature miRNAs:1695
Transcripts:ENST00000253382, ENST00000336325, ENST00000360596, ENST00000461051, ENST00000464399, ENST00000467019, ENST00000468550, ENST00000470315, ENST00000473172, ENST00000475459, ENST00000476922, ENST00000477932, ENST00000480274, ENST00000480978, ENST00000481284, ENST00000481971, ENST00000484354, ENST00000488172, ENST00000490046, ENST00000490464, ENST00000491533, ENST00000493250, ENST00000493805, ENST00000494727, ENST00000497927
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.

Markers in Region
D20S106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,507,330 - 33,507,506UniSTSGRCh37
Build 362032,970,991 - 32,971,167RGDNCBI36
Celera2030,256,429 - 30,256,603RGD
HuRef2030,285,657 - 30,285,829UniSTS
Marshfield Genetic Map2050.81UniSTS
Marshfield Genetic Map2050.81RGD
Genethon Genetic Map2050.2UniSTS
TNG Radiation Hybrid Map2015541.0UniSTS
Stanford-G3 RH Map201861.0UniSTS
GeneMap99-GB4 RH Map20200.26UniSTS
Whitehead-YAC Contig Map20 UniSTS
GeneMap99-G3 RH Map201894.0UniSTS
D20S532E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,515,488 - 33,515,582UniSTSGRCh37
Build 362032,979,149 - 32,979,243RGDNCBI36
Celera2030,264,581 - 30,264,675RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,293,808 - 30,293,902UniSTS
GeneMap99-GB4 RH Map20203.3UniSTS
ACAS2__4238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,515,020 - 33,515,892UniSTSGRCh37
Build 362032,978,681 - 32,979,553RGDNCBI36
Celera2030,264,113 - 30,264,985RGD
HuRef2030,293,340 - 30,294,212UniSTS
D20S106  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map20q11.22UniSTS
TNG Radiation Hybrid Map2015541.0UniSTS
Stanford-G3 RH Map201861.0UniSTS
GeneMap99-G3 RH Map201894.0UniSTS


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 2429 2639 1706 617 1264 459 4288 2117 2843 405 1436 1569 173 1204 2788 4 1
Low 10 352 20 7 663 6 69 80 891 14 24 44 2 1 2 1
Below cutoff 16

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001076552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001242393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_018677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006723826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528909 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF263614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI674262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC073846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA411343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA626707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA628275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA630609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000253382   ⟹   ENSP00000253382
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,614 - 34,927,962 (+)Ensembl
RefSeq Acc Id: ENST00000360596   ⟹   ENSP00000353804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,612 - 34,927,959 (+)Ensembl
RefSeq Acc Id: ENST00000461051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,875,017 - 34,882,996 (+)Ensembl
RefSeq Acc Id: ENST00000464399
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,882,827 - 34,913,805 (+)Ensembl
RefSeq Acc Id: ENST00000467019
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,612 - 34,913,949 (+)Ensembl
RefSeq Acc Id: ENST00000468550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,913,093 - 34,919,572 (+)Ensembl
RefSeq Acc Id: ENST00000470315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,921,648 - 34,922,366 (+)Ensembl
RefSeq Acc Id: ENST00000473172   ⟹   ENSP00000419925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,590 - 34,913,496 (+)Ensembl
RefSeq Acc Id: ENST00000475459   ⟹   ENSP00000420105
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,874,979 - 34,920,613 (+)Ensembl
RefSeq Acc Id: ENST00000476922
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,622 - 34,927,962 (+)Ensembl
RefSeq Acc Id: ENST00000477932   ⟹   ENSP00000418362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,590 - 34,927,962 (+)Ensembl
RefSeq Acc Id: ENST00000480274   ⟹   ENSP00000418608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,580 - 34,913,503 (+)Ensembl
RefSeq Acc Id: ENST00000480978   ⟹   ENSP00000420351
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,593 - 34,926,938 (+)Ensembl
RefSeq Acc Id: ENST00000481284   ⟹   ENSP00000418152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,874,963 - 34,927,962 (+)Ensembl
RefSeq Acc Id: ENST00000481971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,872,882 - 34,913,810 (+)Ensembl
RefSeq Acc Id: ENST00000484354   ⟹   ENSP00000419167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,572 - 34,913,188 (+)Ensembl
RefSeq Acc Id: ENST00000488172   ⟹   ENSP00000417783
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,874,942 - 34,913,822 (+)Ensembl
RefSeq Acc Id: ENST00000490046
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,872,146 - 34,882,990 (+)Ensembl
RefSeq Acc Id: ENST00000490464
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,920,949 - 34,921,418 (+)Ensembl
RefSeq Acc Id: ENST00000491533
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,920,532 - 34,926,276 (+)Ensembl
RefSeq Acc Id: ENST00000493250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,913,903 - 34,920,709 (+)Ensembl
RefSeq Acc Id: ENST00000493805   ⟹   ENSP00000418812
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,876,590 - 34,913,419 (+)Ensembl
RefSeq Acc Id: ENST00000494727
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,922,842 - 34,927,205 (+)Ensembl
RefSeq Acc Id: ENST00000497927
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2034,874,942 - 34,908,903 (+)Ensembl
RefSeq Acc Id: NM_001076552   ⟹   NP_001070020
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
GRCh372033,462,766 - 33,515,769 (+)RGD
Build 362032,926,406 - 32,979,423 (+)NCBI Archive
Celera2030,211,860 - 30,264,862 (+)RGD
HuRef2030,241,182 - 30,294,089 (+)ENTREZGENE
CHM1_12033,365,698 - 33,416,989 (+)NCBI
T2T-CHM13v2.02036,597,253 - 36,648,613 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001242393   ⟹   NP_001229322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,874,989 - 34,927,959 (+)NCBI
GRCh372033,462,766 - 33,515,769 (+)ENTREZGENE
HuRef2030,241,182 - 30,294,089 (+)ENTREZGENE
CHM1_12033,364,136 - 33,416,989 (+)NCBI
T2T-CHM13v2.02036,595,630 - 36,648,613 (+)NCBI
Sequence:
RefSeq Acc Id: NM_018677   ⟹   NP_061147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
GRCh372033,462,766 - 33,515,769 (+)RGD
Build 362032,928,036 - 32,979,423 (+)NCBI Archive
Celera2030,211,860 - 30,264,862 (+)RGD
HuRef2030,241,182 - 30,294,089 (+)ENTREZGENE
CHM1_12033,365,698 - 33,416,989 (+)NCBI
T2T-CHM13v2.02036,597,253 - 36,648,613 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260455   ⟹   XP_005260512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
GRCh372033,462,766 - 33,515,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260456   ⟹   XP_005260513
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
GRCh372033,462,766 - 33,515,769 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528905   ⟹   XP_011527207
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528906   ⟹   XP_011527208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528907   ⟹   XP_011527209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528908   ⟹   XP_011527210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,876,612 - 34,927,959 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528909   ⟹   XP_011527211
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,874,989 - 34,927,959 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528911   ⟹   XP_011527213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,874,989 - 34,927,959 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440293   ⟹   XP_047296249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,874,989 - 34,927,959 (+)NCBI
RefSeq Acc Id: XM_047440294   ⟹   XP_047296250
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382034,874,989 - 34,927,959 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001070020 (Get FASTA)   NCBI Sequence Viewer  
  NP_001229322 (Get FASTA)   NCBI Sequence Viewer  
  NP_061147 (Get FASTA)   NCBI Sequence Viewer  
  XP_005260512 (Get FASTA)   NCBI Sequence Viewer  
  XP_005260513 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527207 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527208 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527209 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527210 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527211 (Get FASTA)   NCBI Sequence Viewer  
  XP_011527213 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296249 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296250 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF75064 (Get FASTA)   NCBI Sequence Viewer  
  AAH10141 (Get FASTA)   NCBI Sequence Viewer  
  AAH12172 (Get FASTA)   NCBI Sequence Viewer  
  AAH73846 (Get FASTA)   NCBI Sequence Viewer  
  AAH98422 (Get FASTA)   NCBI Sequence Viewer  
  BAB14127 (Get FASTA)   NCBI Sequence Viewer  
  BAC03849 (Get FASTA)   NCBI Sequence Viewer  
  BAG53564 (Get FASTA)   NCBI Sequence Viewer  
  BAG57090 (Get FASTA)   NCBI Sequence Viewer  
  CAH18485 (Get FASTA)   NCBI Sequence Viewer  
  EAW76242 (Get FASTA)   NCBI Sequence Viewer  
  EAW76243 (Get FASTA)   NCBI Sequence Viewer  
  EAW76244 (Get FASTA)   NCBI Sequence Viewer  
  EAW76245 (Get FASTA)   NCBI Sequence Viewer  
  EAW76246 (Get FASTA)   NCBI Sequence Viewer  
  EAW76247 (Get FASTA)   NCBI Sequence Viewer  
  EAW76248 (Get FASTA)   NCBI Sequence Viewer  
  Q9NR19 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_061147   ⟸   NM_018677
- Peptide Label: isoform 1
- UniProtKB: Q9UJ15 (UniProtKB/Swiss-Prot),   Q9NR19 (UniProtKB/Swiss-Prot),   Q6DKJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001070020   ⟸   NM_001076552
- Peptide Label: isoform 2
- UniProtKB: Q9NR19 (UniProtKB/Swiss-Prot),   Q96FY7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001229322   ⟸   NM_001242393
- Peptide Label: isoform 3
- UniProtKB: Q4G0E8 (UniProtKB/TrEMBL),   Q96FY7 (UniProtKB/TrEMBL),   A6NLR6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260512   ⟸   XM_005260455
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_005260513   ⟸   XM_005260456
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011527213   ⟸   XM_011528911
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_011527211   ⟸   XM_011528909
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011527207   ⟸   XM_011528905
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011527208   ⟸   XM_011528906
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011527209   ⟸   XM_011528907
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011527210   ⟸   XM_011528908
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000418362   ⟸   ENST00000477932
RefSeq Acc Id: ENSP00000253382   ⟸   ENST00000253382
RefSeq Acc Id: ENSP00000353804   ⟸   ENST00000360596
RefSeq Acc Id: ENSP00000418812   ⟸   ENST00000493805
RefSeq Acc Id: ENSP00000418608   ⟸   ENST00000480274
RefSeq Acc Id: ENSP00000420351   ⟸   ENST00000480978
RefSeq Acc Id: ENSP00000418152   ⟸   ENST00000481284
RefSeq Acc Id: ENSP00000419167   ⟸   ENST00000484354
RefSeq Acc Id: ENSP00000419925   ⟸   ENST00000473172
RefSeq Acc Id: ENSP00000417783   ⟸   ENST00000488172
RefSeq Acc Id: ENSP00000420105   ⟸   ENST00000475459
RefSeq Acc Id: XP_047296249   ⟸   XM_047440293
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047296250   ⟸   XM_047440294
- Peptide Label: isoform X10
Protein Domains
ACAS_N   AMP-binding   AMP-binding_C

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NR19-F1-model_v2 AlphaFold Q9NR19 1-701 view protein structure

Promoters
RGD ID:6798506
Promoter ID:HG_KWN:39156
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:NR_028046,   UC002XBB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362032,925,536 - 32,926,036 (+)MPROMDB
RGD ID:6798507
Promoter ID:HG_KWN:39157
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001076552,   NM_018677,   UC002XBE.1,   UC002XBF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362032,927,471 - 32,928,197 (+)MPROMDB
RGD ID:6798508
Promoter ID:HG_KWN:39160
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:OTTHUMT00000078829
Position:
Human AssemblyChrPosition (strand)Source
Build 362032,974,401 - 32,974,901 (+)MPROMDB
RGD ID:13206749
Promoter ID:EPDNEW_H26955
Type:initiation region
Name:ACSS2_1
Description:acyl-CoA synthetase short-chain family member 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
GRCh382034,876,612 - 34,876,672EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15814 AgrOrtholog
COSMIC ACSS2 COSMIC
Ensembl Genes ENSG00000131069 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000253382 ENTREZGENE
  ENSP00000253382.5 UniProtKB/Swiss-Prot
  ENSP00000353804 ENTREZGENE
  ENSP00000353804.2 UniProtKB/Swiss-Prot
  ENSP00000417783.1 UniProtKB/TrEMBL
  ENSP00000418152.1 UniProtKB/TrEMBL
  ENSP00000418362.1 UniProtKB/TrEMBL
  ENSP00000418608.1 UniProtKB/TrEMBL
  ENSP00000418812.2 UniProtKB/TrEMBL
  ENSP00000419167.1 UniProtKB/TrEMBL
  ENSP00000419925.1 UniProtKB/TrEMBL
  ENSP00000420105.1 UniProtKB/TrEMBL
  ENSP00000420351.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000253382 ENTREZGENE
  ENST00000253382.5 UniProtKB/Swiss-Prot
  ENST00000360596 ENTREZGENE
  ENST00000360596.7 UniProtKB/Swiss-Prot
  ENST00000473172.5 UniProtKB/TrEMBL
  ENST00000475459.6 UniProtKB/TrEMBL
  ENST00000477932.5 UniProtKB/TrEMBL
  ENST00000480274.1 UniProtKB/TrEMBL
  ENST00000480978.5 UniProtKB/TrEMBL
  ENST00000481284.5 UniProtKB/TrEMBL
  ENST00000484354.1 UniProtKB/TrEMBL
  ENST00000488172.5 UniProtKB/TrEMBL
  ENST00000493805.6 UniProtKB/TrEMBL
Gene3D-CATH 3.30.300.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.12780 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000131069 GTEx
HGNC ID HGNC:15814 ENTREZGENE
Human Proteome Map ACSS2 Human Proteome Map
InterPro Ac_CoA_lig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACAS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-bd_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-bd_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synth/Lig UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-dep_Synthh-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55902 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55902 ENTREZGENE
OMIM 605832 OMIM
Pfam ACAS_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24429 PharmGKB
PROSITE AMP_BINDING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs Ac_CoA_lig_AcsA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NLR6 ENTREZGENE
  ACSA_HUMAN UniProtKB/Swiss-Prot
  B4DEH9_HUMAN UniProtKB/TrEMBL
  C9IYL0_HUMAN UniProtKB/TrEMBL
  C9J7L5_HUMAN UniProtKB/TrEMBL
  C9JXD9_HUMAN UniProtKB/TrEMBL
  C9JY31_HUMAN UniProtKB/TrEMBL
  F8WBQ7_HUMAN UniProtKB/TrEMBL
  F8WC73_HUMAN UniProtKB/TrEMBL
  F8WCJ4_HUMAN UniProtKB/TrEMBL
  F8WDJ9_HUMAN UniProtKB/TrEMBL
  H0UIA1_HUMAN UniProtKB/TrEMBL
  Q4G0E8 ENTREZGENE, UniProtKB/TrEMBL
  Q6DKJ3 ENTREZGENE, UniProtKB/TrEMBL
  Q96FY7 ENTREZGENE, UniProtKB/TrEMBL
  Q9NR19 ENTREZGENE
  Q9UJ15 ENTREZGENE
UniProt Secondary A6NE90 UniProtKB/Swiss-Prot
  A6NLR6 UniProtKB/TrEMBL
  Q5QPH2 UniProtKB/Swiss-Prot
  Q5QPH3 UniProtKB/Swiss-Prot
  Q8N238 UniProtKB/Swiss-Prot
  Q96EL0 UniProtKB/Swiss-Prot
  Q9NQP7 UniProtKB/Swiss-Prot
  Q9UJ15 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-06-20 ACSS2  acyl-CoA synthetase short chain family member 2    acyl-CoA synthetase short-chain family member 2  Symbol and/or name change 5135510 APPROVED
2011-09-01 ACSS2  acyl-CoA synthetase short-chain family member 2  ACSS2  acyl-CoA synthetase short-chain family member 2  Symbol and/or name change 5135510 APPROVED