ACSF2 (acyl-CoA synthetase family member 2) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: ACSF2 (acyl-CoA synthetase family member 2) Homo sapiens
Analyze
Symbol: ACSF2
Name: acyl-CoA synthetase family member 2
RGD ID: 1604594
HGNC Page HGNC:26101
Description: Enables medium-chain fatty acid-CoA ligase activity. Predicted to be involved in fatty acid metabolic process. Predicted to be located in mitochondrial matrix.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: ACSMW; acyl-CoA synthetase family member 2, mitochondrial; AVYV493; FLJ20920; medium-chain acyl-CoA ligase ACSF2, mitochondrial; PPARG binding, long chain fatty acid acyl Co-A ligase like
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
GRCh381750,426,218 - 50,474,845 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,426,158 - 50,474,845 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,503,579 - 48,552,206 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,858,518 - 45,907,199 (+)NCBINCBI36Build 36hg18NCBI36
Celera1744,964,815 - 45,013,493 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,871,339 - 43,920,018 (+)NCBIHuRef
CHM1_11748,567,392 - 48,616,068 (+)NCBICHM1_1
T2T-CHM13v2.01751,293,210 - 51,341,845 (+)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->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
buspirone  (ISO)
cadmium sulfate  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diquat  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenthion  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glycidyl methacrylate  (EXP)
glyphosate  (ISO)
indometacin  (EXP)
inulin  (ISO)
iron atom  (ISO)
iron(0)  (ISO)
isobutanol  (EXP)
ivermectin  (EXP)
levofloxacin  (ISO)
lipopolysaccharide  (EXP)
methidathion  (ISO)
methylisothiazolinone  (EXP)
monosodium L-glutamate  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nickel dichloride  (ISO)
nimesulide  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (EXP,ISO)
pirinixic acid  (ISO)
pravastatin  (ISO)
quercetin  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
trovafloxacin  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)
zaragozic acid A  (ISO)
zearalenone  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8125298   PMID:8889548   PMID:12477932   PMID:12975309   PMID:16380219   PMID:17762044   PMID:20877624   PMID:21516116   PMID:21873635   PMID:25416956   PMID:26186194   PMID:27499296  
PMID:28514442   PMID:28986522   PMID:30021884   PMID:31515488   PMID:31536960   PMID:32296183   PMID:32513696   PMID:32814053   PMID:33845483   PMID:33961781   PMID:35509820   PMID:35605301  
PMID:35831314   PMID:35944360   PMID:36215168   PMID:37827155  


Genomics

Comparative Map Data
ACSF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381750,426,218 - 50,474,845 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1750,426,158 - 50,474,845 (+)EnsemblGRCh38hg38GRCh38
GRCh371748,503,579 - 48,552,206 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361745,858,518 - 45,907,199 (+)NCBINCBI36Build 36hg18NCBI36
Celera1744,964,815 - 45,013,493 (+)NCBICelera
Cytogenetic Map17q21.33NCBI
HuRef1743,871,339 - 43,920,018 (+)NCBIHuRef
CHM1_11748,567,392 - 48,616,068 (+)NCBICHM1_1
T2T-CHM13v2.01751,293,210 - 51,341,845 (+)NCBIT2T-CHM13v2.0
Acsf2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391194,447,928 - 94,492,822 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1194,447,928 - 94,492,697 (-)EnsemblGRCm39 Ensembl
GRCm381194,557,102 - 94,602,139 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1194,557,102 - 94,601,871 (-)EnsemblGRCm38mm10GRCm38
MGSCv371194,418,416 - 94,463,100 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361194,373,192 - 94,417,876 (-)NCBIMGSCv36mm8
Celera11104,167,561 - 104,223,217 (-)NCBICelera
Cytogenetic Map11DNCBI
cM Map1158.9NCBI
Acsf2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81080,001,389 - 80,043,796 (-)NCBIGRCr8
mRatBN7.21079,504,510 - 79,546,714 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1079,504,511 - 79,546,673 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1084,109,251 - 84,151,378 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01083,607,357 - 83,649,459 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01079,122,309 - 79,164,922 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01082,284,719 - 82,326,771 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1082,284,720 - 82,326,771 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01082,104,325 - 82,146,073 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41083,194,326 - 83,238,284 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1078,291,917 - 78,333,540 (-)NCBICelera
Cytogenetic Map10q26NCBI
Acsf2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545111,277,375 - 11,295,002 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545111,276,385 - 11,306,873 (-)NCBIChiLan1.0ChiLan1.0
ACSF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21966,614,995 - 66,666,678 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11771,425,057 - 71,473,758 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01744,520,551 - 44,569,248 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11749,394,289 - 49,443,200 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1749,394,289 - 49,443,201 (+)Ensemblpanpan1.1panPan2
ACSF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1926,377,711 - 26,407,414 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl926,378,081 - 26,410,120 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha925,770,722 - 25,800,134 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0927,172,125 - 27,201,537 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl927,172,488 - 27,203,453 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1925,939,905 - 25,969,304 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0926,198,577 - 26,227,981 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0926,328,624 - 26,358,035 (+)NCBIUU_Cfam_GSD_1.0
Acsf2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560225,806,990 - 25,840,437 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649011,234,626 - 11,269,615 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649011,234,623 - 11,268,146 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACSF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1226,713,785 - 26,761,140 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11226,713,790 - 26,752,352 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21226,802,476 - 26,841,148 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACSF2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11642,861,177 - 42,909,048 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1642,857,245 - 42,909,397 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607713,577,478 - 13,625,370 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acsf2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247956,346,598 - 6,379,318 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247956,346,582 - 6,375,196 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACSF2
36 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1 copy number loss See cases [RCV000053432] Chr17:49137864..52147810 [GRCh38]
Chr17:47215226..50225170 [GRCh37]
Chr17:44570225..47580169 [NCBI36]
Chr17:17q21.32-22		 pathogenic
GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1 copy number loss See cases [RCV000053433] Chr17:49974533..56807609 [GRCh38]
Chr17:48051897..54884970 [GRCh37]
Chr17:45406896..52239969 [NCBI36]
Chr17:17q21.33-22		 pathogenic
NM_001267.2(CHAD):c.691C>T (p.Leu231=) single nucleotide variant Malignant melanoma [RCV000071562] Chr17:50468123 [GRCh38]
Chr17:48545484 [GRCh37]
Chr17:45900483 [NCBI36]
Chr17:17q21.33		 not provided
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001267.3(CHAD):c.360C>A (p.Asp120Glu) single nucleotide variant Inborn genetic diseases [RCV003250920] Chr17:50468454 [GRCh38]
Chr17:48545815 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.218C>A (p.Ala73Asp) single nucleotide variant Inborn genetic diseases [RCV003286229] Chr17:50468596 [GRCh38]
Chr17:48545957 [GRCh37]
Chr17:17q21.33		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1 copy number loss not provided [RCV000513510] Chr17:46481089..51396368 [GRCh37]
Chr17:17q21.32-22		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001267.3(CHAD):c.571C>G (p.Leu191Val) single nucleotide variant not provided [RCV000901915] Chr17:50468243 [GRCh38]
Chr17:48545604 [GRCh37]
Chr17:17q21.33		 benign
NM_001267.3(CHAD):c.1047C>T (p.Pro349=) single nucleotide variant not provided [RCV000968746] Chr17:50465331 [GRCh38]
Chr17:48542692 [GRCh37]
Chr17:17q21.33		 benign
NM_025149.6(ACSF2):c.701C>T (p.Ala234Val) single nucleotide variant Inborn genetic diseases [RCV003269702] Chr17:50462494 [GRCh38]
Chr17:48539855 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.1049C>T (p.Thr350Ile) single nucleotide variant not provided [RCV000959770] Chr17:50465329 [GRCh38]
Chr17:48542690 [GRCh37]
Chr17:17q21.33		 benign
NM_001267.3(CHAD):c.676C>T (p.Leu226=) single nucleotide variant not provided [RCV000959416] Chr17:50468138 [GRCh38]
Chr17:48545499 [GRCh37]
Chr17:17q21.33		 benign
NM_001267.3(CHAD):c.623C>T (p.Ser208Phe) single nucleotide variant Inborn genetic diseases [RCV003274632] Chr17:50468191 [GRCh38]
Chr17:48545552 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.488G>A (p.Arg163His) single nucleotide variant Inborn genetic diseases [RCV003250901] Chr17:50468326 [GRCh38]
Chr17:48545687 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.73C>A (p.Gln25Lys) single nucleotide variant not provided [RCV000959417] Chr17:50468741 [GRCh38]
Chr17:48546102 [GRCh37]
Chr17:17q21.33		 benign
NM_001267.3(CHAD):c.472A>G (p.Lys158Glu) single nucleotide variant Inborn genetic diseases [RCV003253028] Chr17:50468342 [GRCh38]
Chr17:48545703 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.937C>T (p.Arg313Trp) single nucleotide variant Inborn genetic diseases [RCV003260858] Chr17:50465708 [GRCh38]
Chr17:48543069 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.75G>T (p.Gln25His) single nucleotide variant Inborn genetic diseases [RCV003288167] Chr17:50468739 [GRCh38]
Chr17:48546100 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.959T>C (p.Met320Thr) single nucleotide variant Inborn genetic diseases [RCV002991913] Chr17:50463465 [GRCh38]
Chr17:48540826 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.145C>T (p.Arg49Cys) single nucleotide variant Inborn genetic diseases [RCV002772703] Chr17:50460693 [GRCh38]
Chr17:48538054 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.1104C>A (p.Asp368Glu) single nucleotide variant Inborn genetic diseases [RCV002991878] Chr17:50463875 [GRCh38]
Chr17:48541236 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.1523G>A (p.Arg508His) single nucleotide variant Inborn genetic diseases [RCV002818877] Chr17:50473712 [GRCh38]
Chr17:48551073 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.1547G>A (p.Gly516Asp) single nucleotide variant Inborn genetic diseases [RCV002727880] Chr17:50473736 [GRCh38]
Chr17:48551097 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.796G>A (p.Gly266Ser) single nucleotide variant Inborn genetic diseases [RCV002661969] Chr17:50465849 [GRCh38]
Chr17:48543210 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.158C>T (p.Thr53Met) single nucleotide variant Inborn genetic diseases [RCV002704486] Chr17:50460706 [GRCh38]
Chr17:48538067 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.932A>G (p.His311Arg) single nucleotide variant Inborn genetic diseases [RCV002854254] Chr17:50463438 [GRCh38]
Chr17:48540799 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.1669C>T (p.Arg557Trp) single nucleotide variant Inborn genetic diseases [RCV002764200] Chr17:50473945 [GRCh38]
Chr17:48551306 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.115G>A (p.Asp39Asn) single nucleotide variant Inborn genetic diseases [RCV002915490] Chr17:50468699 [GRCh38]
Chr17:48546060 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.1124C>T (p.Ser375Leu) single nucleotide variant Inborn genetic diseases [RCV002830487] Chr17:50463895 [GRCh38]
Chr17:48541256 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.152T>G (p.Val51Gly) single nucleotide variant Inborn genetic diseases [RCV002939881] Chr17:50460700 [GRCh38]
Chr17:48538061 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.646G>A (p.Val216Ile) single nucleotide variant Inborn genetic diseases [RCV002878536] Chr17:50462439 [GRCh38]
Chr17:48539800 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.694G>A (p.Val232Met) single nucleotide variant Inborn genetic diseases [RCV002961833] Chr17:50462487 [GRCh38]
Chr17:48539848 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.592G>A (p.Ala198Thr) single nucleotide variant Inborn genetic diseases [RCV003189981] Chr17:50468222 [GRCh38]
Chr17:48545583 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_001267.3(CHAD):c.1030C>T (p.Arg344Cys) single nucleotide variant Inborn genetic diseases [RCV003179952] Chr17:50465348 [GRCh38]
Chr17:48542709 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.1516G>A (p.Val506Met) single nucleotide variant Inborn genetic diseases [RCV003309314] Chr17:50473705 [GRCh38]
Chr17:48551066 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.1264C>T (p.Pro422Ser) single nucleotide variant Inborn genetic diseases [RCV003359697] Chr17:50471076 [GRCh38]
Chr17:48548437 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.181G>A (p.Val61Ile) single nucleotide variant Inborn genetic diseases [RCV003366768] Chr17:50460729 [GRCh38]
Chr17:48538090 [GRCh37]
Chr17:17q21.33		 likely benign
NM_025149.6(ACSF2):c.653C>T (p.Ser218Leu) single nucleotide variant Inborn genetic diseases [RCV003347292] Chr17:50462446 [GRCh38]
Chr17:48539807 [GRCh37]
Chr17:17q21.33		 uncertain significance
NM_025149.6(ACSF2):c.21G>A (p.Met7Ile) single nucleotide variant Inborn genetic diseases [RCV003364336] Chr17:50426282 [GRCh38]
Chr17:48503643 [GRCh37]
Chr17:17q21.33		 uncertain significance
Single allele deletion Osteogenesis imperfecta type I [RCV003494598] Chr17:48201213..48507464 [GRCh37]
Chr17:17q21.33		 pathogenic
Single allele deletion Tricho-dento-osseous syndrome [RCV003494599] Chr17:46740736..48853218 [GRCh37]
Chr17:17q21.32-21.33		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7483
Count of miRNA genes:1222
Interacting mature miRNAs:1613
Transcripts:ENST00000300441, ENST00000427954, ENST00000502667, ENST00000503295, ENST00000503387, ENST00000503408, ENST00000504392, ENST00000504945, ENST00000506052, ENST00000506085, ENST00000506582, ENST00000507769, ENST00000507792, ENST00000508245, ENST00000508734, ENST00000509806, ENST00000510262, ENST00000510410, ENST00000511147, ENST00000511288, ENST00000512119, ENST00000512537, ENST00000513101, ENST00000513544, ENST00000541920, ENST00000570356
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
D17S1869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,539,191 - 48,539,461UniSTSGRCh37
Build 361745,894,190 - 45,894,460RGDNCBI36
Celera1745,000,484 - 45,000,754RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,907,008 - 43,907,278UniSTS
Marshfield Genetic Map1769.92RGD
Marshfield Genetic Map1769.92UniSTS
Genethon Genetic Map1770.8UniSTS
RH93333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,549,792 - 48,549,930UniSTSGRCh37
Build 361745,904,791 - 45,904,929RGDNCBI36
Celera1745,011,085 - 45,011,223RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,917,610 - 43,917,748UniSTS
GeneMap99-GB4 RH Map17347.15UniSTS
SHGC-58381  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,504,911 - 48,505,041UniSTSGRCh37
Build 361745,859,910 - 45,860,040RGDNCBI36
Celera1744,966,207 - 44,966,337RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,872,731 - 43,872,861UniSTS
TNG Radiation Hybrid Map1722885.0UniSTS
RH18250  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,551,897 - 48,552,055UniSTSGRCh37
Build 361745,906,896 - 45,907,054RGDNCBI36
Celera1745,013,190 - 45,013,348RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,919,715 - 43,919,873UniSTS
GeneMap99-GB4 RH Map17347.15UniSTS
NCBI RH Map17604.8UniSTS
G13356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,546,487 - 48,546,617UniSTSGRCh37
Build 361745,901,486 - 45,901,616RGDNCBI36
Celera1745,007,780 - 45,007,910RGD
Cytogenetic Map17q21.33UniSTS
HuRef1743,914,305 - 43,914,435UniSTS
CHAD_4562  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371748,541,794 - 48,542,364UniSTSGRCh37
Build 361745,896,793 - 45,897,363RGDNCBI36
Celera1745,003,087 - 45,003,657RGD
HuRef1743,909,611 - 43,910,181UniSTS


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 1035 906 1373 500 792 379 3410 787 1245 244 1182 1456 133 1140 2104 4
Low 1404 2070 353 124 1146 86 947 1405 2484 173 278 138 41 1 64 684 2 2
Below cutoff 14 12 5 4 2 17

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001288968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288971 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001288972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_025149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110232 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006722110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011525294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054317403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007065474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008484946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_429924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_934567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK024573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA945050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC296100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC384989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000300441   ⟹   ENSP00000300441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,218 - 50,474,837 (+)Ensembl
RefSeq Acc Id: ENST00000427954   ⟹   ENSP00000401831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,219 - 50,474,837 (+)Ensembl
RefSeq Acc Id: ENST00000502667   ⟹   ENSP00000421884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,252 - 50,474,831 (+)Ensembl
RefSeq Acc Id: ENST00000503295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,472,131 - 50,473,760 (+)Ensembl
RefSeq Acc Id: ENST00000503387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,469,906 - 50,471,523 (+)Ensembl
RefSeq Acc Id: ENST00000503408   ⟹   ENSP00000426730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,218 - 50,461,265 (+)Ensembl
RefSeq Acc Id: ENST00000504392   ⟹   ENSP00000425964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,218 - 50,474,670 (+)Ensembl
RefSeq Acc Id: ENST00000504945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,218 - 50,461,048 (+)Ensembl
RefSeq Acc Id: ENST00000506052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,462,239 - 50,463,041 (+)Ensembl
RefSeq Acc Id: ENST00000506085
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,468,343 - 50,474,845 (+)Ensembl
RefSeq Acc Id: ENST00000506582   ⟹   ENSP00000424842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,218 - 50,462,426 (+)Ensembl
RefSeq Acc Id: ENST00000507769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,464,281 - 50,471,400 (+)Ensembl
RefSeq Acc Id: ENST00000507792
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,473,825 - 50,474,774 (+)Ensembl
RefSeq Acc Id: ENST00000508245   ⟹   ENSP00000422546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,463,480 - 50,473,932 (+)Ensembl
RefSeq Acc Id: ENST00000508734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,468,359 - 50,471,065 (+)Ensembl
RefSeq Acc Id: ENST00000509806
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,464,544 - 50,473,403 (+)Ensembl
RefSeq Acc Id: ENST00000510262   ⟹   ENSP00000421558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,463,516 - 50,472,446 (+)Ensembl
RefSeq Acc Id: ENST00000510410   ⟹   ENSP00000425332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,426,158 - 50,474,670 (+)Ensembl
RefSeq Acc Id: ENST00000511147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,472,461 - 50,474,256 (+)Ensembl
RefSeq Acc Id: ENST00000511288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,468,329 - 50,471,761 (+)Ensembl
RefSeq Acc Id: ENST00000512119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,470,063 - 50,473,963 (+)Ensembl
RefSeq Acc Id: ENST00000512537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,470,931 - 50,473,790 (+)Ensembl
RefSeq Acc Id: ENST00000513101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,462,536 - 50,471,188 (+)Ensembl
RefSeq Acc Id: ENST00000513544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,467,840 - 50,473,901 (+)Ensembl
RefSeq Acc Id: ENST00000570356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1750,460,663 - 50,461,411 (+)Ensembl
RefSeq Acc Id: NM_001288968   ⟹   NP_001275897
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,474,837 (+)NCBI
HuRef1743,871,339 - 43,920,024 (+)NCBI
CHM1_11748,567,392 - 48,616,074 (+)NCBI
T2T-CHM13v2.01751,293,210 - 51,341,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288969   ⟹   NP_001275898
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,474,837 (+)NCBI
HuRef1743,871,339 - 43,920,024 (+)NCBI
CHM1_11748,567,392 - 48,616,074 (+)NCBI
T2T-CHM13v2.01751,293,210 - 51,341,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288970   ⟹   NP_001275899
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,474,837 (+)NCBI
HuRef1743,871,339 - 43,920,024 (+)NCBI
CHM1_11748,567,392 - 48,616,074 (+)NCBI
T2T-CHM13v2.01751,293,210 - 51,341,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288971   ⟹   NP_001275900
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,474,837 (+)NCBI
HuRef1743,871,339 - 43,920,024 (+)NCBI
CHM1_11748,567,392 - 48,616,074 (+)NCBI
T2T-CHM13v2.01751,293,210 - 51,341,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001288972   ⟹   NP_001275901
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,474,837 (+)NCBI
HuRef1743,871,339 - 43,920,024 (+)NCBI
CHM1_11748,567,392 - 48,616,074 (+)NCBI
T2T-CHM13v2.01751,293,210 - 51,341,837 (+)NCBI
Sequence:
RefSeq Acc Id: NM_025149   ⟹   NP_079425
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,474,837 (+)NCBI
GRCh371748,503,519 - 48,552,200 (+)RGD
Build 361745,858,518 - 45,907,199 (+)NCBI Archive
Celera1744,964,815 - 45,013,493 (+)RGD
HuRef1743,871,339 - 43,920,024 (+)NCBI
CHM1_11748,567,392 - 48,616,074 (+)NCBI
T2T-CHM13v2.01751,293,210 - 51,341,837 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110232
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,468,329 - 50,474,845 (+)NCBI
HuRef1743,871,339 - 43,920,024 (+)NCBI
CHM1_11748,609,558 - 48,616,074 (+)NCBI
T2T-CHM13v2.01751,335,329 - 51,341,845 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006722110   ⟹   XP_006722173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,472,398 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011525294   ⟹   XP_011523596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,474,837 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054317402   ⟹   XP_054173377
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,293,210 - 51,341,837 (+)NCBI
RefSeq Acc Id: XM_054317403   ⟹   XP_054173378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,293,210 - 51,339,398 (+)NCBI
RefSeq Acc Id: XR_007065473
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,472,530 (+)NCBI
RefSeq Acc Id: XR_007065474
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,472,530 (+)NCBI
RefSeq Acc Id: XR_008484943
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,293,210 - 51,339,530 (+)NCBI
RefSeq Acc Id: XR_008484944
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,293,210 - 51,339,392 (+)NCBI
RefSeq Acc Id: XR_008484945
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,293,210 - 51,339,530 (+)NCBI
RefSeq Acc Id: XR_008484946
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01751,293,210 - 51,339,393 (+)NCBI
RefSeq Acc Id: XR_934563
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,472,392 (+)NCBI
Sequence:
RefSeq Acc Id: XR_934566
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,472,393 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_079425   ⟸   NM_025149
- Peptide Label: isoform 2 precursor
- UniProtKB: B4DUF5 (UniProtKB/Swiss-Prot),   B4DHT5 (UniProtKB/Swiss-Prot),   B4DFQ6 (UniProtKB/Swiss-Prot),   Q9H7G2 (UniProtKB/Swiss-Prot),   Q96CM8 (UniProtKB/Swiss-Prot),   B4DTB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275897   ⟸   NM_001288968
- Peptide Label: isoform 1
- UniProtKB: B4DTB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275898   ⟸   NM_001288969
- Peptide Label: isoform 3
- UniProtKB: B4DTB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275901   ⟸   NM_001288972
- Peptide Label: isoform 5
- UniProtKB: Q96CM8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001275899   ⟸   NM_001288970
- Peptide Label: isoform 4
- UniProtKB: B4DTB9 (UniProtKB/TrEMBL),   E9PF16 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001275900   ⟸   NM_001288971
- Peptide Label: isoform 5
- UniProtKB: Q96CM8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006722173   ⟸   XM_006722110
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011523596   ⟸   XM_011525294
- Peptide Label: isoform X1
- UniProtKB: B4DTB9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000421884   ⟸   ENST00000502667
RefSeq Acc Id: ENSP00000426730   ⟸   ENST00000503408
RefSeq Acc Id: ENSP00000425964   ⟸   ENST00000504392
RefSeq Acc Id: ENSP00000401831   ⟸   ENST00000427954
RefSeq Acc Id: ENSP00000424842   ⟸   ENST00000506582
RefSeq Acc Id: ENSP00000422546   ⟸   ENST00000508245
RefSeq Acc Id: ENSP00000421558   ⟸   ENST00000510262
RefSeq Acc Id: ENSP00000425332   ⟸   ENST00000510410
RefSeq Acc Id: ENSP00000300441   ⟸   ENST00000300441
RefSeq Acc Id: XP_054173377   ⟸   XM_054317402
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054173378   ⟸   XM_054317403
- Peptide Label: isoform X2
Protein Domains
AMP-binding enzyme C-terminal   AMP-dependent synthetase/ligase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96CM8-F1-model_v2 AlphaFold Q96CM8 1-615 view protein structure

Promoters
RGD ID:6793712
Promoter ID:HG_KWN:26574
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_025149
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,858,411 - 45,858,911 (+)MPROMDB
RGD ID:6851942
Promoter ID:EP73777
Type:initiation region
Name:HS_FLJ20920
Description:Hypothetical protein FLJ20920.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361745,858,612 - 45,858,672EPD
RGD ID:7235643
Promoter ID:EPDNEW_H23568
Type:initiation region
Name:ACSF2_1
Description:acyl-CoA synthetase family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23569  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,426,218 - 50,426,278EPDNEW
RGD ID:7235645
Promoter ID:EPDNEW_H23569
Type:initiation region
Name:ACSF2_2
Description:acyl-CoA synthetase family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23568  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381750,468,343 - 50,468,403EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26101 AgrOrtholog
COSMIC ACSF2 COSMIC
Ensembl Genes ENSG00000167107 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000300441 ENTREZGENE
  ENST00000300441.9 UniProtKB/Swiss-Prot
  ENST00000427954 ENTREZGENE
  ENST00000427954.6 UniProtKB/Swiss-Prot
  ENST00000502667 ENTREZGENE
  ENST00000502667.5 UniProtKB/Swiss-Prot
  ENST00000503408.5 UniProtKB/TrEMBL
  ENST00000504392 ENTREZGENE
  ENST00000504392.5 UniProtKB/TrEMBL
  ENST00000506085 ENTREZGENE
  ENST00000506582.5 UniProtKB/TrEMBL
  ENST00000508245.5 UniProtKB/TrEMBL
  ENST00000510262.1 UniProtKB/TrEMBL
  ENST00000510410.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.300.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.980 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167107 GTEx
HGNC ID HGNC:26101 ENTREZGENE
Human Proteome Map ACSF2 Human Proteome Map
InterPro 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
KEGG Report hsa:80221 UniProtKB/Swiss-Prot
NCBI Gene 80221 ENTREZGENE
OMIM 610465 OMIM
PANTHER ACYL-COA SYNTHETASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MEDIUM-CHAIN ACYL-COA LIGASE ACSF2, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AMP-binding UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMP-binding_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162375338 PharmGKB
PROSITE AMP_BINDING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Acetyl-CoA synthetase-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ACSF2_HUMAN UniProtKB/Swiss-Prot
  B4DFQ6 ENTREZGENE
  B4DHT5 ENTREZGENE
  B4DTB9 ENTREZGENE, UniProtKB/TrEMBL
  B4DUF5 ENTREZGENE
  D6RF15_HUMAN UniProtKB/TrEMBL
  D6RF87_HUMAN UniProtKB/TrEMBL
  E7EN53_HUMAN UniProtKB/TrEMBL
  E9PF16 ENTREZGENE, UniProtKB/TrEMBL
  H0Y8N1_HUMAN UniProtKB/TrEMBL
  H0Y8Y5_HUMAN UniProtKB/TrEMBL
  Q96CM8 ENTREZGENE
  Q9H7G2 ENTREZGENE
UniProt Secondary B4DFQ6 UniProtKB/Swiss-Prot
  B4DHT5 UniProtKB/Swiss-Prot
  B4DUF5 UniProtKB/Swiss-Prot
  Q9H7G2 UniProtKB/Swiss-Prot