SIRT4 (sirtuin 4) - Rat Genome Database

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Gene: SIRT4 (sirtuin 4) Homo sapiens
Analyze
Symbol: SIRT4
Name: sirtuin 4
RGD ID: 1321303
HGNC Page HGNC:14932
Description: Enables NAD+-protein poly-ADP-ribosyltransferase activity; NAD-dependent protein biotinidase activity; and NAD-dependent protein lipoamidase activity. Involved in negative regulation of fatty acid oxidation; negative regulation of insulin secretion; and regulation of pyruvate dehydrogenase activity. Located in mitochondrial matrix.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC130046; MGC130047; MGC57437; NAD-dependent ADP-ribosyltransferase sirtuin-4; NAD-dependent protein biotinylase sirtuin-4; NAD-dependent protein deacetylase sirtuin-4; NAD-dependent protein lipoamidase sirtuin-4, mitochondrial; regulatory protein SIR2 homolog 4; sir2-like 4; SIR2-like protein 4; SIR2L4; sirtuin; sirtuin type 4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812120,291,780 - 120,313,249 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,302,316 - 120,313,249 (+)EnsemblGRCh38hg38GRCh38
GRCh3712120,729,992 - 120,751,052 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,224,546 - 119,235,428 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412119,202,882 - 119,213,764NCBI
Celera12120,373,255 - 120,384,162 (+)NCBICelera
Cytogenetic Map12q24.23-q24.31NCBI
HuRef12117,748,504 - 117,759,368 (+)NCBIHuRef
CHM1_112120,708,119 - 120,718,976 (+)NCBICHM1_1
T2T-CHM13v2.012120,277,808 - 120,300,434 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-chloro-2,3,4,9-tetrahydro-1H-carbazole-1-carboxamide  (ISO)
6-propyl-2-thiouracil  (ISO)
actinomycin D  (EXP)
aldehydo-D-glucose  (ISO)
amiodarone  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
butyric acid  (EXP)
camptothecin  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
DDE  (EXP)
dexamethasone  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
fenvalerate  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
gentamycin  (ISO)
glucose  (ISO)
hydrogen peroxide  (EXP,ISO)
indometacin  (EXP)
leflunomide  (ISO)
lidocaine  (ISO)
metformin  (ISO)
methyl methanesulfonate  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monooxygen  (EXP)
nicotinic acid  (EXP)
Nutlin-3  (EXP)
oleic acid  (ISO)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
reactive oxygen species  (ISO)
resveratrol  (ISO)
silicon dioxide  (EXP)
sirolimus  (ISO)
sodium arsenite  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
tributyrin  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (ISO)
triptonide  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
mitochondrial inner membrane  (IEA)
mitochondrial matrix  (IBA,IDA,IEA,TAS)
mitochondrion  (HTP,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Calorie restriction on insulin resistance and expression of SIRT1 and SIRT4 in rats. Chen YR, etal., Biochem Cell Biol. 2010 Aug;88(4):715-22. doi: 10.1139/O10-010.
2. Physical and functional HAT/HDAC interplay regulates protein acetylation balance. Peserico A and Simone C, J Biomed Biotechnol. 2011;2011:371832. doi: 10.1155/2011/371832. Epub 2010 Dec 5.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. NAD(+) in aging, metabolism, and neurodegeneration. Verdin E Science. 2015 Dec 4;350(6265):1208-13. doi: 10.1126/science.aac4854.
Additional References at PubMed
PMID:9847074   PMID:10381378   PMID:10873683   PMID:12477932   PMID:15122253   PMID:15342556   PMID:15489334   PMID:16079181   PMID:16541075   PMID:16959573   PMID:17456799   PMID:17715127  
PMID:19209188   PMID:21556116   PMID:21873635   PMID:22770219   PMID:23663782   PMID:24043310   PMID:24296486   PMID:24368766   PMID:25045415   PMID:25165814   PMID:25331589   PMID:25361925  
PMID:25466907   PMID:25525879   PMID:25633289   PMID:26054687   PMID:26086877   PMID:26186194   PMID:26701732   PMID:26775843   PMID:26959556   PMID:26986234   PMID:27164052   PMID:27651178  
PMID:27941873   PMID:28215707   PMID:28514442   PMID:28582846   PMID:28820880   PMID:29081403   PMID:29571013   PMID:29593712   PMID:30033389   PMID:30552782   PMID:30649986   PMID:31059091  
PMID:31685549   PMID:31744516   PMID:32081049   PMID:32467562   PMID:32675395   PMID:32863939   PMID:33315089   PMID:33945069   PMID:33961781   PMID:34414449   PMID:34664305   PMID:34768083  
PMID:34800366   PMID:34856814   PMID:35349697   PMID:35842463   PMID:36209169   PMID:37023208   PMID:37067687   PMID:37146713   PMID:37178383   PMID:37541633   PMID:37704626   PMID:37858614  
PMID:38499327   PMID:38548246   PMID:38586875   PMID:39121020  


Genomics

Comparative Map Data
SIRT4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812120,291,780 - 120,313,249 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12120,302,316 - 120,313,249 (+)EnsemblGRCh38hg38GRCh38
GRCh3712120,729,992 - 120,751,052 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612119,224,546 - 119,235,428 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412119,202,882 - 119,213,764NCBI
Celera12120,373,255 - 120,384,162 (+)NCBICelera
Cytogenetic Map12q24.23-q24.31NCBI
HuRef12117,748,504 - 117,759,368 (+)NCBIHuRef
CHM1_112120,708,119 - 120,718,976 (+)NCBICHM1_1
T2T-CHM13v2.012120,277,808 - 120,300,434 (+)NCBIT2T-CHM13v2.0
Sirt4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395115,616,065 - 115,628,322 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5115,616,069 - 115,622,784 (-)EnsemblGRCm39 Ensembl
GRCm385115,478,006 - 115,490,264 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5115,478,010 - 115,484,725 (-)EnsemblGRCm38mm10GRCm38
MGSCv375115,928,019 - 115,934,493 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365115,739,009 - 115,751,007 (-)NCBIMGSCv36mm8
Celera5112,577,219 - 112,584,001 (-)NCBICelera
Cytogenetic Map5FNCBI
cM Map556.1NCBI
Sirt4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81246,785,852 - 46,800,179 (+)NCBIGRCr8
mRatBN7.21241,125,533 - 41,139,440 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1241,131,262 - 41,139,439 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1242,298,179 - 42,303,722 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01242,911,836 - 42,917,381 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01241,972,383 - 41,977,928 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01246,862,358 - 46,876,593 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1246,868,416 - 46,876,592 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01248,665,591 - 48,673,711 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41242,394,536 - 42,402,714 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11242,241,793 - 42,268,052 (+)NCBI
Celera1242,754,699 - 42,762,759 (+)NCBICelera
Cytogenetic Map12q16NCBI
Sirt4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545511,324,479 - 11,334,817 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545511,322,812 - 11,334,786 (-)NCBIChiLan1.0ChiLan1.0
SIRT4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210128,353,714 - 128,374,355 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112128,350,086 - 128,372,113 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012117,867,453 - 117,887,968 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112121,241,102 - 121,261,777 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12121,241,112 - 121,261,777 (+)Ensemblpanpan1.1panPan2
SIRT4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12616,228,831 - 16,244,104 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2616,234,710 - 16,240,012 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2616,228,030 - 16,250,502 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02616,491,640 - 16,514,126 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2616,502,217 - 16,512,406 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12616,452,385 - 16,475,012 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02616,529,465 - 16,551,725 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02616,570,700 - 16,593,194 (+)NCBIUU_Cfam_GSD_1.0
Sirt4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118146,129,984 - 146,134,550 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936668626,938 - 633,466 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936668628,875 - 633,425 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SIRT4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1440,290,288 - 40,303,879 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11440,290,288 - 40,303,887 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21442,839,907 - 42,856,609 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SIRT4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111115,640,976 - 115,659,074 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11115,640,555 - 115,658,687 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037129,447,251 - 129,463,787 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sirt4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474713,335,442 - 13,352,201 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474713,329,662 - 13,352,151 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SIRT4
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3 copy number gain See cases [RCV000050866] Chr12:118165459..133182322 [GRCh38]
Chr12:118603264..133758908 [GRCh37]
Chr12:117087647..132268981 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
GRCh38/hg38 12q24.23-24.31(chr12:119286893-122638552)x3 copy number gain See cases [RCV000051981] Chr12:119286893..122638552 [GRCh38]
Chr12:119724698..123123099 [GRCh37]
Chr12:118209081..121689052 [NCBI36]
Chr12:12q24.23-24.31
uncertain significance
GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3 copy number gain See cases [RCV000053689] Chr12:115131583..133166920 [GRCh38]
Chr12:115569388..133743506 [GRCh37]
Chr12:114053771..132253579 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh38/hg38 12q24.23-24.33(chr12:119417382-133191400)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053691]|See cases [RCV000053691] Chr12:119417382..133191400 [GRCh38]
Chr12:119855187..133767986 [GRCh37]
Chr12:118339570..132278059 [NCBI36]
Chr12:12q24.23-24.33
pathogenic
NM_012240.2(SIRT4):c.569C>T (p.Pro190Leu) single nucleotide variant Malignant melanoma [RCV000069851] Chr12:120312527 [GRCh38]
Chr12:120750330 [GRCh37]
Chr12:119234713 [NCBI36]
Chr12:12q24.31
not provided
NR_003137.3(RNU4-2):n.65A>G single nucleotide variant Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004799711] Chr12:120291839 [GRCh38]
Chr12:120729642 [GRCh37]
Chr12:12q24.23
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3 copy number gain See cases [RCV000143656] Chr12:114268403..133201316 [GRCh38]
Chr12:114706208..133777902 [GRCh37]
Chr12:113190591..132287975 [NCBI36]
Chr12:12q24.21-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382)x3 copy number gain See cases [RCV000447605] Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31
likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:120600171-120812991)x3 copy number gain See cases [RCV000448236] Chr12:120600171..120812991 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_012240.3(SIRT4):c.289C>T (p.Arg97Trp) single nucleotide variant not specified [RCV004302648] Chr12:120303850 [GRCh38]
Chr12:120741653 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.23-24.31(chr12:120516089-121376736)x3 copy number gain not provided [RCV000683452] Chr12:120516089..121376736 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
GRCh37/hg19 12q24.23-24.33(chr12:120367241-133777645)x3 copy number gain not provided [RCV000738070] Chr12:120367241..133777645 [GRCh37]
Chr12:12q24.23-24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_012240.3(SIRT4):c.852A>T (p.Ile284=) single nucleotide variant not provided [RCV000886900] Chr12:120312943 [GRCh38]
Chr12:120750746 [GRCh37]
Chr12:12q24.31
benign
NM_012240.3(SIRT4):c.304C>T (p.Arg102Cys) single nucleotide variant not provided [RCV000888162] Chr12:120303865 [GRCh38]
Chr12:120741668 [GRCh37]
Chr12:12q24.31
benign
NM_012240.3(SIRT4):c.806A>C (p.Tyr269Ser) single nucleotide variant not specified [RCV004326396] Chr12:120312897 [GRCh38]
Chr12:120750700 [GRCh37]
Chr12:12q24.31
uncertain significance
NR_003137.3(RNU4-2):n.43_44insT insertion Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004812541] Chr12:120291860..120291861 [GRCh38]
Chr12:120729663..120729664 [GRCh37]
Chr12:12q24.23
uncertain significance
NR_003137.3(RNU4-2):n.30A>T single nucleotide variant Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004812542] Chr12:120291874 [GRCh38]
Chr12:120729677 [GRCh37]
Chr12:12q24.23
uncertain significance
GRCh37/hg19 12q24.22-24.33(chr12:117461902-133841395)x3 copy number gain Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures [RCV001801213] Chr12:117461902..133841395 [GRCh37]
Chr12:12q24.22-24.33
likely pathogenic
GRCh37/hg19 12q24.23-24.31(chr12:118486842-120995382) copy number gain not specified [RCV002053027] Chr12:118486842..120995382 [GRCh37]
Chr12:12q24.23-24.31
likely pathogenic
NR_003137.3(RNU4-2):n.69C>T single nucleotide variant Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004799707] Chr12:120291835 [GRCh38]
Chr12:120729638 [GRCh37]
Chr12:12q24.23
likely pathogenic
NM_012240.3(SIRT4):c.755A>C (p.Glu252Ala) single nucleotide variant not specified [RCV004297067] Chr12:120312713 [GRCh38]
Chr12:120750516 [GRCh37]
Chr12:12q24.31
uncertain significance
GRCh37/hg19 12q24.23-24.31(chr12:120665945-120951612)x3 copy number gain not provided [RCV002473613] Chr12:120665945..120951612 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
NM_012240.3(SIRT4):c.403G>A (p.Gly135Arg) single nucleotide variant not specified [RCV004177315] Chr12:120303964 [GRCh38]
Chr12:120741767 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.908G>A (p.Arg303His) single nucleotide variant not specified [RCV004090944] Chr12:120312999 [GRCh38]
Chr12:120750802 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.251G>T (p.Arg84Leu) single nucleotide variant not specified [RCV004110868] Chr12:120303812 [GRCh38]
Chr12:120741615 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.305G>A (p.Arg102His) single nucleotide variant not specified [RCV004233170] Chr12:120303866 [GRCh38]
Chr12:120741669 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.619C>G (p.Leu207Val) single nucleotide variant not specified [RCV004181814] Chr12:120312577 [GRCh38]
Chr12:120750380 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.320C>T (p.Ala107Val) single nucleotide variant not specified [RCV004207284] Chr12:120303881 [GRCh38]
Chr12:120741684 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.835A>C (p.Lys279Gln) single nucleotide variant not specified [RCV004199746] Chr12:120312926 [GRCh38]
Chr12:120750729 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.863G>C (p.Gly288Ala) single nucleotide variant not specified [RCV004164509] Chr12:120312954 [GRCh38]
Chr12:120750757 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.524A>C (p.Gln175Pro) single nucleotide variant not specified [RCV004241922] Chr12:120312482 [GRCh38]
Chr12:120750285 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.491T>A (p.Met164Lys) single nucleotide variant not specified [RCV004145291] Chr12:120304052 [GRCh38]
Chr12:120741855 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.394G>A (p.Glu132Lys) single nucleotide variant not specified [RCV004087768] Chr12:120303955 [GRCh38]
Chr12:120741758 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.455C>T (p.Ala152Val) single nucleotide variant not specified [RCV004074560] Chr12:120304016 [GRCh38]
Chr12:120741819 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.690T>G (p.Asp230Glu) single nucleotide variant not specified [RCV004287054] Chr12:120312648 [GRCh38]
Chr12:120750451 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.464G>A (p.Arg155Gln) single nucleotide variant not specified [RCV004252276] Chr12:120304025 [GRCh38]
Chr12:120741828 [GRCh37]
Chr12:12q24.31
likely benign
NM_012240.3(SIRT4):c.550C>T (p.Arg184Cys) single nucleotide variant not specified [RCV004251894] Chr12:120312508 [GRCh38]
Chr12:120750311 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.206C>T (p.Ser69Leu) single nucleotide variant not specified [RCV004349263] Chr12:120303767 [GRCh38]
Chr12:120741570 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.613G>A (p.Val205Ile) single nucleotide variant not provided [RCV003392082] Chr12:120312571 [GRCh38]
Chr12:120750374 [GRCh37]
Chr12:12q24.31
likely benign
NR_003137.3(RNU4-2):n.64_65insT insertion Neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language [RCV004596615]|RNU4-2-associated neurodevelopmental disorder [RCV003994802]|RNU4-2-related condition [RCV004759364]|not provided [RCV004573450] Chr12:120291839..120291840 [GRCh38]
Chr12:120729642..120729643 [GRCh37]
Chr12:12q24.23
pathogenic|likely pathogenic
NM_012240.3(SIRT4):c.845T>C (p.Ile282Thr) single nucleotide variant not specified [RCV004455935] Chr12:120312936 [GRCh38]
Chr12:120750739 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.514T>G (p.Cys172Gly) single nucleotide variant not specified [RCV004455933] Chr12:120312472 [GRCh38]
Chr12:120750275 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.907C>T (p.Arg303Cys) single nucleotide variant not specified [RCV004455936] Chr12:120312998 [GRCh38]
Chr12:120750801 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.63C>G (p.Ser21Arg) single nucleotide variant not specified [RCV004455934] Chr12:120303624 [GRCh38]
Chr12:120741427 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.86T>C (p.Ile29Thr) single nucleotide variant not specified [RCV004669941] Chr12:120303647 [GRCh38]
Chr12:120741450 [GRCh37]
Chr12:12q24.31
likely benign
NM_012240.3(SIRT4):c.760G>A (p.Asp254Asn) single nucleotide variant not specified [RCV004676453] Chr12:120312718 [GRCh38]
Chr12:120750521 [GRCh37]
Chr12:12q24.31
uncertain significance
NC_000012.11:g.(?_120270555)_(124242579_?)dup duplication Deficiency of butyryl-CoA dehydrogenase [RCV004578383] Chr12:120270555..124242579 [GRCh37]
Chr12:12q24.23-24.31
uncertain significance
NR_003137.3(RNU4-2):n.26G>A single nucleotide variant not provided [RCV004727549] Chr12:120291878 [GRCh38]
Chr12:120729681 [GRCh37]
Chr12:12q24.23
uncertain significance
NR_003925.1(RNU4-1):n.96T>G single nucleotide variant RNU4-1-associated neurodevelopmental disorder [RCV004764406] Chr12:120293142 [GRCh38]
Chr12:120730945 [GRCh37]
Chr12:12q24.23
uncertain significance
NM_012240.3(SIRT4):c.457G>T (p.Gly153Trp) single nucleotide variant not specified [RCV004864354] Chr12:120304018 [GRCh38]
Chr12:120741821 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.656C>A (p.Thr219Asn) single nucleotide variant not specified [RCV004864355] Chr12:120312614 [GRCh38]
Chr12:120750417 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.871C>T (p.Arg291Trp) single nucleotide variant not specified [RCV004864356] Chr12:120312962 [GRCh38]
Chr12:120750765 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.742A>G (p.Lys248Glu) single nucleotide variant not specified [RCV004864352] Chr12:120312700 [GRCh38]
Chr12:120750503 [GRCh37]
Chr12:12q24.31
uncertain significance
NM_012240.3(SIRT4):c.773T>C (p.Val258Ala) single nucleotide variant not specified [RCV004864353] Chr12:120312731 [GRCh38]
Chr12:120750534 [GRCh37]
Chr12:12q24.31
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:257
Count of miRNA genes:232
Interacting mature miRNAs:243
Transcripts:ENST00000202967, ENST00000536460, ENST00000537892
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597533421GWAS1629495_Hbody height QTL GWAS1629495 (human)1e-69body height (VT:0001253)body height (CMO:0000106)12120293273120293274Human
1298449UAE2_HUrinary albumin excretion QTL 2 (human)20.005Urinary albumin excretionurine albumin:creatinine ratio (ACR)12102836889128836889Human
1643258BW205_HBody weight QTL 205 (human)4.080.00001Body fat amountpercent body fat1296630114122630114Human
597043173GWAS1139247_Hbody height QTL GWAS1139247 (human)1e-12body height (VT:0001253)body height (CMO:0000106)12120297291120297292Human
1643452BW104_HBody weight QTL 104 (human)1.890.005Body fat amountabdominal visceral12102395874128395874Human
597343517GWAS1439591_Hbody fat percentage QTL GWAS1439591 (human)2e-11body fat mass (VT:0010482)body fat percentage (CMO:0000302)12120309713120309714Human
597135854GWAS1231928_Hbone density QTL GWAS1231928 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)12120308433120308434Human
597252484GWAS1348558_HC-reactive protein measurement QTL GWAS1348558 (human)2e-16C-reactive protein measurementblood C-reactive protein level (CMO:0003160)12120299993120299994Human
597131784GWAS1227858_Hfat body mass QTL GWAS1227858 (human)1e-11body fat mass (VT:0010482)total body fat mass (CMO:0000305)12120309713120309714Human

Markers in Region
RH46443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712120,750,776 - 120,750,927UniSTSGRCh37
Build 3612119,235,159 - 119,235,310RGDNCBI36
Celera12120,383,893 - 120,384,044RGD
Cytogenetic Map12qUniSTS
HuRef12117,759,099 - 117,759,250UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1200 2431 2783 2239 4942 1723 2343 4 622 1911 464 2266 7240 6408 52 3707 847 1731 1610 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001385733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001385735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF083109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP232525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS330060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS417201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS545592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000202967   ⟹   ENSP00000202967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,302,321 - 120,313,249 (+)Ensembl
Ensembl Acc Id: ENST00000536460   ⟹   ENSP00000444838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,302,316 - 120,304,058 (+)Ensembl
Ensembl Acc Id: ENST00000537892
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12120,303,880 - 120,313,241 (+)Ensembl
RefSeq Acc Id: NM_001385733   ⟹   NP_001372662
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,292,189 - 120,313,249 (+)NCBI
T2T-CHM13v2.012120,279,367 - 120,300,434 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385734   ⟹   NP_001372663
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,302,321 - 120,313,249 (+)NCBI
T2T-CHM13v2.012120,289,515 - 120,300,434 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001385735   ⟹   NP_001372664
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,292,189 - 120,313,249 (+)NCBI
T2T-CHM13v2.012120,279,367 - 120,300,434 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012240   ⟹   NP_036372
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,302,321 - 120,313,249 (+)NCBI
GRCh3712120,730,002 - 120,751,045 (+)NCBI
Build 3612119,224,546 - 119,235,428 (+)NCBI Archive
Celera12120,373,255 - 120,384,162 (+)RGD
HuRef12117,748,504 - 117,759,368 (+)RGD
CHM1_112120,708,119 - 120,718,976 (+)NCBI
T2T-CHM13v2.012120,289,515 - 120,300,434 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719309   ⟹   XP_006719372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812120,291,780 - 120,313,249 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054371579   ⟹   XP_054227554
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012120,277,808 - 120,300,434 (+)NCBI
RefSeq Acc Id: NP_036372   ⟸   NM_012240
- Peptide Label: isoform 1
- UniProtKB: O43346 (UniProtKB/Swiss-Prot),   Q32M33 (UniProtKB/Swiss-Prot),   Q9Y6E7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719372   ⟸   XM_006719309
- Peptide Label: isoform X1
- UniProtKB: O43346 (UniProtKB/Swiss-Prot),   Q32M33 (UniProtKB/Swiss-Prot),   Q9Y6E7 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000202967   ⟸   ENST00000202967
Ensembl Acc Id: ENSP00000444838   ⟸   ENST00000536460
RefSeq Acc Id: NP_001372662   ⟸   NM_001385733
- Peptide Label: isoform 1
- UniProtKB: Q9Y6E7 (UniProtKB/Swiss-Prot),   O43346 (UniProtKB/Swiss-Prot),   Q32M33 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001372664   ⟸   NM_001385735
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001372663   ⟸   NM_001385734
- Peptide Label: isoform 2
RefSeq Acc Id: XP_054227554   ⟸   XM_054371579
- Peptide Label: isoform X1
- UniProtKB: Q9Y6E7 (UniProtKB/Swiss-Prot),   O43346 (UniProtKB/Swiss-Prot),   Q32M33 (UniProtKB/Swiss-Prot)
Protein Domains
Deacetylase sirtuin-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y6E7-F1-model_v2 AlphaFold Q9Y6E7 1-314 view protein structure

Promoters
RGD ID:6790479
Promoter ID:HG_KWN:16821
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000202967
Position:
Human AssemblyChrPosition (strand)Source
Build 3612119,224,279 - 119,224,779 (+)MPROMDB
RGD ID:7225595
Promoter ID:EPDNEW_H18543
Type:initiation region
Name:SIRT4_1
Description:sirtuin 4
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
GRCh3812120,302,321 - 120,302,381EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14932 AgrOrtholog
COSMIC SIRT4 COSMIC
Ensembl Genes ENSG00000089163 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000202967 ENTREZGENE
  ENST00000202967.4 UniProtKB/Swiss-Prot
  ENST00000536460.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1600.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPP-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000089163 GTEx
HGNC ID HGNC:14932 ENTREZGENE
Human Proteome Map SIRT4 Human Proteome Map
InterPro DHS-like_NAD/FAD-binding_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD-dep_sirtuin_deacylases UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sirtuin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sirtuin_cat_small_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sirtuin_class_II UniProtKB/Swiss-Prot
  Ssirtuin_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23409 UniProtKB/Swiss-Prot
NCBI Gene 23409 ENTREZGENE
OMIM 604482 OMIM
PANTHER NAD-DEPENDENT PROTEIN DEACYLASE SIRTUIN-5, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot
  NAD-DEPENDENT PROTEIN DEACYLASE SIRTUIN-5, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot
  NAD-DEPENDENT PROTEIN DEACYLASE SIRTUIN-5, MITOCHONDRIAL-RELATED UniProtKB/TrEMBL
  NAD-DEPENDENT PROTEIN DEACYLASE SIRTUIN-5, MITOCHONDRIAL-RELATED UniProtKB/TrEMBL
Pfam SIR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37937 PharmGKB
PROSITE SIRTUIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt F5H4X9_HUMAN UniProtKB/TrEMBL
  O43346 ENTREZGENE
  Q32M33 ENTREZGENE
  Q9Y6E7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O43346 UniProtKB/Swiss-Prot
  Q32M33 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-07-27 SIRT4  sirtuin 4  SIRT4  sirtuin (silent mating type information regulation 2 homolog) 4 (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED