MAFF (MAF bZIP transcription factor F) - Rat Genome Database

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Gene: MAFF (MAF bZIP transcription factor F) Homo sapiens
Analyze
Symbol: MAFF
Name: MAF bZIP transcription factor F
RGD ID: 1319919
HGNC Page HGNC:6780
Description: Enables DNA-binding transcription activator activity, RNA polymerase II-specific and sequence-specific double-stranded DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Located in mitochondrion and nucleoplasm. Part of RNA polymerase II transcription regulator complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hMafF; transcription factor MafF; U-MAF; v-maf avian musculoaponeurotic fibrosarcoma oncogene family protein F; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F
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
GRCh382238,201,994 - 38,216,511 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,200,767 - 38,216,507 (+)EnsemblGRCh38hg38GRCh38
GRCh372238,598,001 - 38,612,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,927,944 - 36,942,460 (+)NCBINCBI36Build 36hg18NCBI36
Build 342236,934,041 - 36,937,012NCBI
Celera2222,402,653 - 22,417,221 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,564,466 - 21,578,860 (+)NCBIHuRef
CHM1_12238,556,960 - 38,571,506 (+)NCBICHM1_1
T2T-CHM13v2.02238,666,346 - 38,680,861 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(-)-anisomycin  (EXP)
(-)-demecolcine  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
(E)-cinnamyl alcohol  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1,4-benzoquinone  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-fluoro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (EXP)
1-phenyl-1,2-propanedione  (EXP)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3-dimethoxynaphthalene-1,4-dione  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-butoxyethanol  (ISO)
2-hexenal  (EXP)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrolein  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-hexylcinnamaldehyde  (EXP)
amiodarone  (EXP)
amphetamine  (ISO)
antimony(0)  (EXP)
antimycin A  (EXP)
arachidonic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
arsenous acid  (EXP)
atazanavir sulfate  (EXP)
atrazine  (ISO)
azathioprine  (EXP)
azoxystrobin  (EXP)
Bandrowski's base  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
benzo[d]isothiazol-3-one  (EXP)
benzyl cinnamate  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (EXP)
bexarotene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
calcitriol  (EXP)
cannabidiol  (EXP)
captan  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chenodeoxycholic acid  (EXP)
chloroprene  (ISO)
choline  (ISO)
chromium atom  (EXP)
ciguatoxin CTX1B  (ISO)
cinnamyl alcohol  (EXP)
cisplatin  (EXP)
citral  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
D-glucose  (ISO)
DDE  (EXP)
deoxycholic acid  (EXP)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diethyl malate  (EXP)
diethyl maleate  (EXP)
diethyl sulfate  (EXP)
dioxygen  (ISO)
diphenylcyclopropenone  (EXP)
dipotassium bis[mu-tartrato(4-)]diantimonate(2-) trihydrate  (EXP)
diquat  (ISO)
disulfiram  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (ISO)
Enterolactone  (EXP)
eugenol  (EXP)
fenamidone  (ISO)
fenvalerate  (ISO)
fluoranthene  (ISO)
fluorescein 5-isothiocyanate  (EXP)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP,ISO)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
geranial  (EXP)
geraniol  (EXP)
glucose  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
glyphosate  (ISO)
Heliotrine  (EXP)
hydrogen peroxide  (EXP)
hydrogen sulfide  (ISO)
hydroquinone  (EXP)
hydroxycitronellal  (EXP)
hypochlorous acid  (EXP)
indometacin  (EXP)
iron dichloride  (EXP)
isoeugenol  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
Licochalcone B  (EXP)
manganese(II) chloride  (ISO)
menadione  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methamphetamine  (ISO)
methimazole  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methyl non-2-ynoate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
methyltestosterone  (EXP)
mitoxantrone  (EXP)
mono(2-ethylhexyl) phthalate  (EXP,ISO)
Monobutylphthalate  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
n-propyl gallate  (EXP)
naphthalene  (ISO)
nefazodone  (EXP)
nickel dichloride  (EXP,ISO)
nickel sulfate  (EXP,ISO)
obeticholic acid  (EXP)
organoselenium compound  (EXP)
oxaliplatin  (ISO)
oxazepam  (ISO)
ozone  (EXP,ISO)
p-chloromercuribenzoic acid  (EXP)
pamidronate  (EXP)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
pentanal  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
perillyl aldehyde  (EXP)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
phosgene  (ISO)
phthalic anhydride  (EXP)
picoxystrobin  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (ISO)
rifampicin  (EXP)
rotenone  (EXP,ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
salicylic acid  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
senecionine  (EXP,ISO)
Senkirkine  (EXP)
silicon dioxide  (EXP,ISO)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sodium dodecyl sulfate  (EXP)
Soman  (ISO)
sotorasib  (EXP)
sulfadimethoxine  (ISO)
Sunset Yellow FCF  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (EXP)
tartrazine  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (EXP,ISO)
topotecan  (ISO)
trametinib  (EXP)
trans-isoeugenol  (EXP)
triacsin C  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP,ISO)
urethane  (EXP)
valproic acid  (EXP)
valsartan  (EXP)
vincristine  (EXP)
vorinostat  (EXP)
zinc atom  (EXP)
zinc dichloride  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. The Nrf2 regulatory network provides an interface between redox and intermediary metabolism. Hayes JD and Dinkova-Kostova AT, Trends Biochem Sci. 2014 Apr;39(4):199-218. doi: 10.1016/j.tibs.2014.02.002. Epub 2014 Mar 16.
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8107826   PMID:8816476   PMID:8932385   PMID:10527846   PMID:10591208   PMID:11036080   PMID:11772409   PMID:12477932   PMID:12490281   PMID:14702039   PMID:15489334   PMID:16169070  
PMID:16344560   PMID:16371591   PMID:16549056   PMID:19274049   PMID:19723544   PMID:20211142   PMID:20360068   PMID:21873635   PMID:21988832   PMID:23332764   PMID:23661758   PMID:23737527  
PMID:24118457   PMID:24140708   PMID:24981860   PMID:26186194   PMID:26496610   PMID:27052415   PMID:28192407   PMID:28473536   PMID:28514442   PMID:28986522   PMID:29459360   PMID:29757260  
PMID:30669188   PMID:30804502   PMID:32339354   PMID:32393512   PMID:32416067   PMID:32694731   PMID:32911434   PMID:33488846   PMID:33626882   PMID:33897412   PMID:33961781   PMID:33980595  
PMID:34262028   PMID:34591642   PMID:35013218   PMID:35256949   PMID:35748872   PMID:35944360   PMID:36380368   PMID:36424410  


Genomics

Comparative Map Data
MAFF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382238,201,994 - 38,216,511 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2238,200,767 - 38,216,507 (+)EnsemblGRCh38hg38GRCh38
GRCh372238,598,001 - 38,612,518 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362236,927,944 - 36,942,460 (+)NCBINCBI36Build 36hg18NCBI36
Build 342236,934,041 - 36,937,012NCBI
Celera2222,402,653 - 22,417,221 (+)NCBICelera
Cytogenetic Map22q13.1NCBI
HuRef2221,564,466 - 21,578,860 (+)NCBIHuRef
CHM1_12238,556,960 - 38,571,506 (+)NCBICHM1_1
T2T-CHM13v2.02238,666,346 - 38,680,861 (+)NCBIT2T-CHM13v2.0
Maff
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391579,230,813 - 79,243,278 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1579,230,821 - 79,243,276 (+)EnsemblGRCm39 Ensembl
GRCm381579,346,621 - 79,359,078 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1579,346,621 - 79,359,076 (+)EnsemblGRCm38mm10GRCm38
MGSCv371579,178,108 - 79,189,506 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361579,174,933 - 79,186,331 (+)NCBIMGSCv36mm8
Celera1581,467,576 - 81,478,973 (+)NCBICelera
Cytogenetic Map15E1NCBI
cM Map1537.7NCBI
Maff
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87112,792,787 - 112,804,139 (+)NCBIGRCr8
mRatBN7.27110,912,367 - 110,923,711 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7110,912,499 - 110,923,851 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7112,660,962 - 112,672,336 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07114,884,496 - 114,895,870 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07114,853,854 - 114,865,232 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07120,580,743 - 120,592,095 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7120,580,743 - 120,592,095 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07120,572,094 - 120,586,372 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47117,328,924 - 117,340,276 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17117,361,699 - 117,373,300 (+)NCBI
Celera7107,245,920 - 107,257,272 (+)NCBICelera
Cytogenetic Map7q34NCBI
Maff
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495541324,494,326 - 24,504,728 (+)NCBIChiLan1.0ChiLan1.0
MAFF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22348,058,144 - 48,073,103 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12250,746,702 - 50,764,159 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02219,114,929 - 19,129,901 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12236,940,064 - 36,954,989 (+)NCBIpanpan1.1PanPan1.1panPan2
MAFF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11026,475,478 - 26,486,109 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1026,476,851 - 26,485,931 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1026,432,096 - 26,441,384 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01027,268,184 - 27,277,547 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1027,268,311 - 27,277,535 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11026,989,008 - 26,998,285 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01027,300,235 - 27,309,493 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01027,477,234 - 27,486,527 (-)NCBIUU_Cfam_GSD_1.0
Maff
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049459,972,908 - 9,983,641 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364922,986,813 - 2,987,836 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364922,983,322 - 2,988,900 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAFF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl59,683,660 - 9,696,023 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.159,683,651 - 9,696,128 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.256,966,177 - 6,978,613 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAFF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11920,914,271 - 20,927,032 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1920,901,704 - 20,927,174 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045104,842,820 - 104,857,622 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Maff
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247529,771,303 - 9,781,608 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAFF
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1 copy number loss See cases [RCV000051364] Chr22:35333993..38900177 [GRCh38]
Chr22:35729986..39296182 [GRCh37]
Chr22:34059986..37626128 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q12.3-13.1(chr22:36859030-39236985)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051366]|See cases [RCV000051366] Chr22:36859030..39236985 [GRCh38]
Chr22:37255072..39632990 [GRCh37]
Chr22:35585018..37962936 [NCBI36]
Chr22:22q12.3-13.1		 pathogenic
GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1 copy number loss See cases [RCV000051367] Chr22:37721777..38886664 [GRCh38]
Chr22:38117784..39282669 [GRCh37]
Chr22:36447730..37612615 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3 copy number gain See cases [RCV000051685] Chr22:37721797..40860953 [GRCh38]
Chr22:38117804..41256957 [GRCh37]
Chr22:36447750..39586903 [NCBI36]
Chr22:22q13.1-13.2		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1 copy number loss See cases [RCV000141783] Chr22:37447222..39103680 [GRCh38]
Chr22:37843259..39499685 [GRCh37]
Chr22:36173205..37829631 [NCBI36]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q13.1(chr22:38597951-38611206)x3 copy number gain See cases [RCV000449022] Chr22:38597951..38611206 [GRCh37]
Chr22:22q13.1		 likely benign
GRCh37/hg19 22q12.3-13.1(chr22:37090025-39601950)x3 copy number gain See cases [RCV000446037] Chr22:37090025..39601950 [GRCh37]
Chr22:22q12.3-13.1		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:38322968-38965458) copy number gain See cases [RCV000447478] Chr22:38322968..38965458 [GRCh37]
Chr22:22q13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1 copy number loss See cases [RCV000511673] Chr22:37866631..39054815 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_012323.4(MAFF):c.385A>G (p.Thr129Ala) single nucleotide variant not specified [RCV004310562] Chr22:38214768 [GRCh38]
Chr22:38610775 [GRCh37]
Chr22:22q13.1		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3 copy number gain See cases [RCV000512385] Chr22:35674826..39466442 [GRCh37]
Chr22:22q12.3-13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:38510503-38609880)x3 copy number gain not provided [RCV000848114] Chr22:38510503..38609880 [GRCh37]
Chr22:22q13.1		 uncertain significance
GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1 copy number loss See cases [RCV001007404] Chr22:38431917..39392250 [GRCh37]
Chr22:22q13.1		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1 copy number loss not provided [RCV001007501] Chr22:38002218..38973070 [GRCh37]
Chr22:22q13.1		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NC_000022.10:g.(?_37154355)_(39148633_?)del deletion Emery-Dreifuss muscular dystrophy [RCV003122557]|Infantile neuroaxonal dystrophy [RCV003122556]|Myoclonic dystonia 26 [RCV003107333] Chr22:37154355..39148633 [GRCh37]
Chr22:22q12.3-13.1		 pathogenic|uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_35776672)_(42486826_?)dup duplication Adenylosuccinate lyase deficiency [RCV003119093] Chr22:35776672..42486826 [GRCh37]
Chr22:22q12.3-13.2		 uncertain significance
NC_000022.10:g.(?_38097373)_(39306081_?)del deletion not provided [RCV003122369] Chr22:38097373..39306081 [GRCh37]
Chr22:22q13.1		 pathogenic
NM_012323.4(MAFF):c.356G>T (p.Arg119Leu) single nucleotide variant not specified [RCV004149455] Chr22:38214739 [GRCh38]
Chr22:38610746 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.370G>A (p.Ala124Thr) single nucleotide variant not specified [RCV004186062] Chr22:38214753 [GRCh38]
Chr22:38610760 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.460C>T (p.Pro154Ser) single nucleotide variant not specified [RCV004110485] Chr22:38214843 [GRCh38]
Chr22:38610850 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.424T>C (p.Ser142Pro) single nucleotide variant not specified [RCV004324811] Chr22:38214807 [GRCh38]
Chr22:38610814 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.456C>G (p.His152Gln) single nucleotide variant not specified [RCV004302146] Chr22:38214839 [GRCh38]
Chr22:38610846 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.78C>A (p.Asp26Glu) single nucleotide variant not specified [RCV004346151] Chr22:38214461 [GRCh38]
Chr22:38610468 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.362T>C (p.Val121Ala) single nucleotide variant not specified [RCV004413440] Chr22:38214745 [GRCh38]
Chr22:38610752 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.379C>T (p.Pro127Ser) single nucleotide variant not specified [RCV004413441] Chr22:38214762 [GRCh38]
Chr22:38610769 [GRCh37]
Chr22:22q13.1		 uncertain significance
NM_012323.4(MAFF):c.487T>A (p.Cys163Ser) single nucleotide variant not specified [RCV004640476] Chr22:38214870 [GRCh38]
Chr22:38610877 [GRCh37]
Chr22:22q13.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5219
Count of miRNA genes:784
Interacting mature miRNAs:885
Transcripts:ENST00000338483, ENST00000407965, ENST00000417948, ENST00000426621, ENST00000441709, ENST00000538320, ENST00000538999
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
407178822GWAS827798_Htriglyceride measurement QTL GWAS827798 (human)7e-17triglyceride measurementblood triglyceride level (CMO:0000118)223820397138203972Human
406891080GWAS540056_Hbody height QTL GWAS540056 (human)2e-09body height (VT:0001253)body height (CMO:0000106)223820335738203358Human
406889546GWAS538522_Hserum alanine aminotransferase measurement QTL GWAS538522 (human)8e-17serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)223820335738203358Human
406890315GWAS539291_Hreticulocyte count QTL GWAS539291 (human)3e-10reticulocyte counttotal reticulocyte count (CMO:0003020)223820335738203358Human
407207113GWAS856089_Hhigh density lipoprotein cholesterol measurement QTL GWAS856089 (human)2e-26high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820397138203972Human
407295816GWAS944792_Htriglyceride measurement QTL GWAS944792 (human)4e-24triglyceride measurementblood triglyceride level (CMO:0000118)223820453538204536Human
407262037GWAS911013_Hpelvic organ prolapse QTL GWAS911013 (human)1e-13pelvic organ prolapse223820222738202228Human
406887893GWAS536869_Hglomerular filtration rate QTL GWAS536869 (human)2e-14glomerular filtration rateglomerular filtration rate (CMO:0000490)223820542338205427Human
407214803GWAS863779_Htriglyceride measurement QTL GWAS863779 (human)2e-22triglyceride measurementblood triglyceride level (CMO:0000118)223820542338205427Human
407241050GWAS890026_Hbody fat percentage QTL GWAS890026 (human)2e-13body fat percentagebody fat percentage (CMO:0000302)223820397138203972Human
406888285GWAS537261_Hbody fat percentage QTL GWAS537261 (human)8e-09body fat percentagebody fat percentage (CMO:0000302)223820335738203358Human
407119706GWAS768682_Htriglyceride measurement QTL GWAS768682 (human)8e-18triglyceride measurementblood triglyceride level (CMO:0000118)223820542338205427Human
406887009GWAS535985_Htriglyceride measurement QTL GWAS535985 (human)1e-09triglyceride measurementblood triglyceride level (CMO:0000118)223820376038203761Human
407380714GWAS1029690_Hhigh density lipoprotein cholesterol measurement QTL GWAS1029690 (human)5e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820222738202228Human
406889954GWAS538930_Hbody fat percentage QTL GWAS538930 (human)3e-29body fat percentagebody fat percentage (CMO:0000302)223820335738203358Human
406887779GWAS536755_Htriglyceride measurement, alcohol consumption measurement QTL GWAS536755 (human)4e-13triglyceride measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)223820376038203761Human
406893924GWAS542900_Htype 2 diabetes mellitus QTL GWAS542900 (human)4e-08type 2 diabetes mellitus223820376038203761Human
407293664GWAS942640_Hmatrix metalloproteinase measurement QTL GWAS942640 (human)1e-12matrix metalloproteinase measurement223820453538204536Human
407388898GWAS1037874_Hserum alanine aminotransferase measurement QTL GWAS1037874 (human)7e-18serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)223820222738202228Human
407174510GWAS823486_Herythrocyte count QTL GWAS823486 (human)2e-13erythrocyte countred blood cell count (CMO:0000025)223820613338206134Human
407219817GWAS868793_Htriglyceride measurement QTL GWAS868793 (human)2e-52triglyceride measurementblood triglyceride level (CMO:0000118)223820397138203972Human
407297259GWAS946235_Htriglyceride:HDL cholesterol ratio QTL GWAS946235 (human)6e-18triglyceride:HDL cholesterol ratio223820453538204536Human
406956526GWAS605502_Hhigh density lipoprotein cholesterol measurement QTL GWAS605502 (human)4e-08high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820335738203358Human
406887663GWAS536639_Htriglyceride measurement, alcohol consumption measurement QTL GWAS536639 (human)5e-08triglyceride measurement, alcohol consumption measurementethanol drink intake rate (CMO:0001407)223820376038203761Human
407221994GWAS870970_Hgluteofemoral adipose tissue measurement QTL GWAS870970 (human)1e-10gluteofemoral adipose tissue measurement223820542338205427Human
407196400GWAS845376_Htriglyceride measurement QTL GWAS845376 (human)2e-26triglyceride measurementblood triglyceride level (CMO:0000118)223820453538204536Human
407297267GWAS946243_Htriglyceride:HDL cholesterol ratio QTL GWAS946243 (human)2e-11triglyceride:HDL cholesterol ratio223820453538204536Human
406890358GWAS539334_Hserum alanine aminotransferase measurement QTL GWAS539334 (human)6e-12serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)223820335738203358Human
407293041GWAS942017_Hglomerular filtration rate QTL GWAS942017 (human)3e-10glomerular filtration rateglomerular filtration rate (CMO:0000490)223820453538204536Human
407251837GWAS900813_Hbody fat percentage QTL GWAS900813 (human)6e-21body fat percentagebody fat percentage (CMO:0000302)223820335738203358Human
406905596GWAS554572_Hhigh density lipoprotein cholesterol measurement QTL GWAS554572 (human)5e-18high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820376038203761Human
407379466GWAS1028442_Hserum alanine aminotransferase measurement QTL GWAS1028442 (human)4e-17serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)223820222738202228Human
406887431GWAS536407_Hglomerular filtration rate QTL GWAS536407 (human)5e-12glomerular filtration rateglomerular filtration rate (CMO:0000490)223820335738203358Human
407395328GWAS1044304_Hglomerular filtration rate QTL GWAS1044304 (human)9e-18glomerular filtration rateglomerular filtration rate (CMO:0000490)223820222738202228Human
406886664GWAS535640_Htriglyceride measurement, alcohol drinking QTL GWAS535640 (human)4e-09triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)223820376038203761Human
406886921GWAS535897_Hglomerular filtration rate QTL GWAS535897 (human)5e-11glomerular filtration rateblood high density lipoprotein cholesterol level (CMO:0000052)223820376038203761Human
406890506GWAS539482_Hserum alanine aminotransferase measurement QTL GWAS539482 (human)7e-17serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)223820335738203358Human
406888845GWAS537821_Hglomerular filtration rate QTL GWAS537821 (human)1e-25glomerular filtration rateglomerular filtration rate (CMO:0000490)223820385038203851Human
406890512GWAS539488_Hhigh density lipoprotein cholesterol measurement QTL GWAS539488 (human)9e-29high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820335738203358Human
407216661GWAS865637_Htriglyceride measurement QTL GWAS865637 (human)4e-33triglyceride measurementblood triglyceride level (CMO:0000118)223820397138203972Human
406886674GWAS535650_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS535650 (human)2e-09alcohol drinking, high density lipoprotein cholesterol measurementethanol drink intake rate (CMO:0001407)223820376038203761Human
407292820GWAS941796_Htriglycerides:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS941796 (human)1e-08triglycerides:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820453538204536Human
406890516GWAS539492_Htriglyceride measurement QTL GWAS539492 (human)2e-29triglyceride measurementblood triglyceride level (CMO:0000118)223820335738203358Human
407292818GWAS941794_Htriglyceride:HDL cholesterol ratio QTL GWAS941794 (human)2e-24triglyceride:HDL cholesterol ratio223820453538204536Human
406890518GWAS539494_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS539494 (human)4e-69aspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820335738203358Human
407220377GWAS869353_Htriglyceride measurement QTL GWAS869353 (human)3e-10triglyceride measurementblood triglyceride level (CMO:0000118)223820397138203972Human
407291928GWAS940904_Hlow density lipoprotein cholesterol measurement, free cholesterol:total lipids ratio QTL GWAS940904 (human)3e-08low density lipoprotein cholesterol measurement, free cholesterol:total lipids ratioblood low density lipoprotein cholesterol level (CMO:0000053)223820453538204536Human
406886690GWAS535666_Halcohol drinking, high density lipoprotein cholesterol measurement QTL GWAS535666 (human)1e-11alcohol drinking, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820376038203761Human
406886695GWAS535671_Hhigh density lipoprotein cholesterol measurement QTL GWAS535671 (human)0.0000001high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820376038203761Human
406886696GWAS535672_Htriglyceride measurement QTL GWAS535672 (human)0.000007triglyceride measurementblood triglyceride level (CMO:0000118)223820376038203761Human
407311407GWAS960383_Hfat body mass QTL GWAS960383 (human)2e-15body fat mass (VT:0010482)total body fat mass (CMO:0000305)223820376038203761Human
407249582GWAS898558_Hcreatinine measurement QTL GWAS898558 (human)3e-19creatinine measurementblood creatinine measurement (CMO:0000767)223820385038203851Human
406907944GWAS556920_Hbody height QTL GWAS556920 (human)3e-17body height (VT:0001253)body height (CMO:0000106)223820453538204536Human
407212333GWAS861309_Hred blood cell density measurement QTL GWAS861309 (human)3e-14red blood cell density measurement223820613338206134Human
407322158GWAS971134_Hbody height QTL GWAS971134 (human)3e-18body height (VT:0001253)body height (CMO:0000106)223821152738211529Human
406886571GWAS535547_Hhigh density lipoprotein cholesterol measurement QTL GWAS535547 (human)0.0000005high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820376038203761Human
407205801GWAS854777_Hfasting blood glucose measurement QTL GWAS854777 (human)0.0000009fasting blood glucose measurementblood glucose level (CMO:0000046)223820385038203851Human
406886573GWAS535549_Htriglyceride measurement, alcohol drinking QTL GWAS535549 (human)8e-15triglyceride measurement, alcohol drinkingblood triglyceride level (CMO:0000118)223820376038203761Human
406888238GWAS537214_Hbody fat percentage QTL GWAS537214 (human)2e-12body fat percentagebody fat percentage (CMO:0000302)223820335738203358Human
407178667GWAS827643_Herythrocyte count QTL GWAS827643 (human)1e-10erythrocyte countred blood cell count (CMO:0000025)223820613338206134Human
407174315GWAS823291_Hred blood cell density measurement QTL GWAS823291 (human)2e-12red blood cell density measurement223821098238210983Human
407206582GWAS855558_Htriglyceride measurement, very low density lipoprotein cholesterol measurement QTL GWAS855558 (human)4e-08triglyceride measurement, very low density lipoprotein cholesterol measurementblood very low density lipoprotein cholesterol level (CMO:0000648)223820542338205427Human
406886708GWAS535684_Htriglyceride measurement QTL GWAS535684 (human)8e-11triglyceride measurementblood triglyceride level (CMO:0000118)223820376038203761Human
407311410GWAS960386_Hfat body mass QTL GWAS960386 (human)2e-15body fat mass (VT:0010482)total body fat mass (CMO:0000305)223820453538204536Human
407039800GWAS688776_Hglomerular filtration rate QTL GWAS688776 (human)5e-21glomerular filtration rateglomerular filtration rate (CMO:0000490)223820222738202228Human
406916154GWAS565130_Hbody height QTL GWAS565130 (human)6e-09body height (VT:0001253)body height (CMO:0000106)223821152738211529Human
407292216GWAS941192_Hcholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS941192 (human)2e-08cholesteryl esters:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223820453538204536Human

Markers in Region
D22S1054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,606,493 - 38,606,739UniSTSGRCh37
Build 362236,936,439 - 36,936,685RGDNCBI36
Celera2222,411,196 - 22,411,442RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,572,839 - 21,573,095UniSTS
SHGC-106918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,599,082 - 38,599,361UniSTSGRCh37
Build 362236,929,028 - 36,929,307RGDNCBI36
Celera2222,403,796 - 22,404,075RGD
Cytogenetic Map22q13.1UniSTS
HuRef2221,565,609 - 21,565,888UniSTS
TNG Radiation Hybrid Map229065.0UniSTS
MAFF__7349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372238,611,735 - 38,612,524UniSTSGRCh37
Build 362236,941,681 - 36,942,470RGDNCBI36
Celera2222,416,438 - 22,417,227RGD
HuRef2221,578,077 - 21,578,866UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001161574 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054325415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB025247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI610651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA209378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA425613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA654696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB319587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT583847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000338483   ⟹   ENSP00000345393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,201,994 - 38,216,507 (+)Ensembl
Ensembl Acc Id: ENST00000407965   ⟹   ENSP00000384094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,213,535 - 38,216,505 (+)Ensembl
Ensembl Acc Id: ENST00000417948   ⟹   ENSP00000416493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,202,796 - 38,214,760 (+)Ensembl
Ensembl Acc Id: ENST00000426621   ⟹   ENSP00000388882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,203,020 - 38,216,503 (+)Ensembl
Ensembl Acc Id: ENST00000441709   ⟹   ENSP00000391589
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,201,996 - 38,214,750 (+)Ensembl
Ensembl Acc Id: ENST00000538320   ⟹   ENSP00000442060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,201,932 - 38,216,503 (+)Ensembl
Ensembl Acc Id: ENST00000538999   ⟹   ENSP00000441482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,201,932 - 38,216,503 (+)Ensembl
Ensembl Acc Id: ENST00000624676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2238,200,767 - 38,204,050 (+)Ensembl
RefSeq Acc Id: NM_001161572   ⟹   NP_001155044
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,201,994 - 38,216,507 (+)NCBI
GRCh372238,597,939 - 38,612,518 (+)ENTREZGENE
HuRef2221,564,466 - 21,578,860 (+)ENTREZGENE
CHM1_12238,556,960 - 38,571,506 (+)NCBI
T2T-CHM13v2.02238,666,346 - 38,680,857 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001161573   ⟹   NP_001155045
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,203,020 - 38,216,511 (+)NCBI
GRCh372238,597,939 - 38,612,518 (+)ENTREZGENE
HuRef2221,564,466 - 21,578,860 (+)ENTREZGENE
CHM1_12238,558,048 - 38,571,506 (+)NCBI
T2T-CHM13v2.02238,667,372 - 38,680,861 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001161574   ⟹   NP_001155046
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,201,994 - 38,216,507 (+)NCBI
GRCh372238,597,939 - 38,612,518 (+)ENTREZGENE
HuRef2221,564,466 - 21,578,860 (+)ENTREZGENE
CHM1_12238,556,960 - 38,571,506 (+)NCBI
T2T-CHM13v2.02238,666,346 - 38,680,857 (+)NCBI
Sequence:
RefSeq Acc Id: NM_012323   ⟹   NP_036455
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,201,994 - 38,216,507 (+)NCBI
GRCh372238,597,939 - 38,612,518 (+)ENTREZGENE
Build 362236,927,944 - 36,942,460 (+)NCBI Archive
HuRef2221,564,466 - 21,578,860 (+)ENTREZGENE
CHM1_12238,556,960 - 38,571,506 (+)NCBI
T2T-CHM13v2.02238,666,346 - 38,680,857 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047441270   ⟹   XP_047297226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,213,573 - 38,216,511 (+)NCBI
RefSeq Acc Id: XM_054325415   ⟹   XP_054181390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02238,675,838 - 38,680,861 (+)NCBI
RefSeq Acc Id: NP_001155044   ⟸   NM_001161572
- Peptide Label: isoform a
- UniProtKB: B4DV49 (UniProtKB/Swiss-Prot),   Q9Y525 (UniProtKB/Swiss-Prot),   Q9ULX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036455   ⟸   NM_012323
- Peptide Label: isoform a
- UniProtKB: B4DV49 (UniProtKB/Swiss-Prot),   Q9Y525 (UniProtKB/Swiss-Prot),   Q9ULX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001155046   ⟸   NM_001161574
- Peptide Label: isoform b
- UniProtKB: Q9ULX9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001155045   ⟸   NM_001161573
- Peptide Label: isoform a
- UniProtKB: B4DV49 (UniProtKB/Swiss-Prot),   Q9Y525 (UniProtKB/Swiss-Prot),   Q9ULX9 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000388882   ⟸   ENST00000426621
Ensembl Acc Id: ENSP00000391589   ⟸   ENST00000441709
Ensembl Acc Id: ENSP00000345393   ⟸   ENST00000338483
Ensembl Acc Id: ENSP00000416493   ⟸   ENST00000417948
Ensembl Acc Id: ENSP00000442060   ⟸   ENST00000538320
Ensembl Acc Id: ENSP00000441482   ⟸   ENST00000538999
Ensembl Acc Id: ENSP00000384094   ⟸   ENST00000407965
RefSeq Acc Id: XP_047297226   ⟸   XM_047441270
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054181390   ⟸   XM_054325415
- Peptide Label: isoform X1
Protein Domains
bZIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULX9-F1-model_v2 AlphaFold Q9ULX9 1-164 view protein structure

Promoters
RGD ID:6800101
Promoter ID:HG_KWN:42788
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_001161572,   NM_001161574,   OTTHUMT00000321624
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,927,656 - 36,928,156 (+)MPROMDB
RGD ID:6800102
Promoter ID:HG_KWN:42789
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000321626
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,928,449 - 36,928,949 (+)MPROMDB
RGD ID:6800103
Promoter ID:HG_KWN:42790
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_2Hour,   Lymphoblastoid
Transcripts:UC003AVD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362236,939,391 - 36,939,922 (+)MPROMDB
RGD ID:13604036
Promoter ID:EPDNEW_H28202
Type:multiple initiation site
Name:MAFF_2
Description:MAF bZIP transcription factor F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28203  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,201,966 - 38,202,026EPDNEW
RGD ID:13604038
Promoter ID:EPDNEW_H28203
Type:initiation region
Name:MAFF_1
Description:MAF bZIP transcription factor F
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28202  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382238,202,088 - 38,202,148EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6780 AgrOrtholog
COSMIC MAFF COSMIC
Ensembl Genes ENSG00000185022 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338483 ENTREZGENE
  ENST00000338483.7 UniProtKB/Swiss-Prot
  ENST00000407965.1 UniProtKB/Swiss-Prot
  ENST00000417948.5 UniProtKB/TrEMBL
  ENST00000426621 ENTREZGENE
  ENST00000426621.6 UniProtKB/Swiss-Prot
  ENST00000441709.1 UniProtKB/TrEMBL
  ENST00000538320 ENTREZGENE
  ENST00000538320.5 UniProtKB/Swiss-Prot
  ENST00000538999 ENTREZGENE
  ENST00000538999.1 UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185022 GTEx
HGNC ID HGNC:6780 ENTREZGENE
Human Proteome Map MAFF Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transciption_factor_Maf_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23764 UniProtKB/Swiss-Prot
NCBI Gene 23764 ENTREZGENE
OMIM 604877 OMIM
PANTHER PTHR10129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10129:SF25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30538 PharmGKB
PROSITE BZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRLZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57959 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B0QY70_HUMAN UniProtKB/TrEMBL
  B0QY71_HUMAN UniProtKB/TrEMBL
  B4DV49 ENTREZGENE
  MAFF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9Y525 ENTREZGENE
UniProt Secondary B4DV49 UniProtKB/Swiss-Prot
  Q9Y525 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 MAFF  MAF bZIP transcription factor F  MAFF  v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F  Symbol and/or name change 5135510 APPROVED
2013-07-16 MAFF  v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F  MAFF  v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian)  Symbol and/or name change 5135510 APPROVED