AIFM2 (AIF family member 2) - Rat Genome Database

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Gene: AIFM2 (AIF family member 2) Homo sapiens
Analyze
Symbol: AIFM2
Name: AIF family member 2 (Ensembl:apoptosis inducing factor mitochondria associated 2)
RGD ID: 1312709
HGNC Page HGNC:21411
Description: Enables several functions, including electron-transferring-flavoprotein dehydrogenase activity; flavin adenine dinucleotide binding activity; and oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor. Involved in several processes, including negative regulation of ferroptosis; ubiquinone metabolic process; and vitamin K metabolic process. Acts upstream of or within apoptotic mitochondrial changes. Located in several cellular components, including cytosol; lipid droplet; and mitochondrial outer membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 5430437E11Rik; AMID; apoptosis inducing factor mitochondria associated 2; apoptosis inducing factor, mitochondria associated 2; apoptosis-inducing factor (AIF)-homologous mitochondrion-associated inducer of death; apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death; apoptosis-inducing factor 2; apoptosis-inducing factor homologous mitochondrion-associated inducer of death; apoptosis-inducing factor, mitochondrion-associated, 2; DKFZp686L1298; ferroptosis suppressor 1; ferroptosis suppressor protein 1; FSP1; p53-responsive gene 3 protein; PRG3; RP11-367H5.2
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
GRCh381070,112,271 - 70,132,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1070,098,223 - 70,132,934 (-)EnsemblGRCh38hg38GRCh38
GRCh371071,872,027 - 71,892,581 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361071,542,036 - 71,562,696 (-)NCBINCBI36Build 36hg18NCBI36
Celera1065,151,142 - 65,171,802 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1065,864,657 - 65,885,178 (-)NCBIHuRef
CHM1_11072,154,045 - 72,174,696 (-)NCBICHM1_1
T2T-CHM13v2.01070,981,272 - 71,001,807 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
aldrin  (ISO)
amitrole  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
bortezomib  (EXP)
C60 fullerene  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
cadmium sulfide  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroacetaldehyde  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clodronic acid  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP,ISO)
dibenz[a,h]anthracene  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dieldrin  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (ISO)
endosulfan  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fenofibrate  (EXP,ISO)
fulvestrant  (EXP)
hydrogen peroxide  (EXP,ISO)
hydroquinone  (EXP)
ibuprofen  (EXP,ISO)
inulin  (ISO)
lead diacetate  (EXP)
metformin  (ISO)
methimazole  (ISO)
methotrexate  (ISO)
methyl methanesulfonate  (EXP)
methylglyoxal  (EXP)
nickel dichloride  (ISO)
Nutlin-3  (EXP)
paracetamol  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulindac  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IDA,IEA)
cytosol  (IDA)
extracellular space  (HDA)
lipid droplet  (IDA,IEA)
mitochondrial membrane  (IEA)
mitochondrial outer membrane  (IDA,TAS)
mitochondrion  (IBA,IDA,IEA)
nucleus  (IEA,ISS)
plasma membrane  (IDA,IEA)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10441517   PMID:11980907   PMID:12135761   PMID:12477932   PMID:14702039   PMID:14741744   PMID:15164054   PMID:15273740   PMID:15342556   PMID:15489334   PMID:15958387   PMID:17347867  
PMID:17711848   PMID:19270026   PMID:20635389   PMID:20877624   PMID:21873635   PMID:22623531   PMID:22664934   PMID:23443559   PMID:25244912   PMID:26063804   PMID:26760575   PMID:27499296  
PMID:30884312   PMID:30982162   PMID:31634899   PMID:31634900   PMID:31964528   PMID:32296183   PMID:32457219   PMID:32724472   PMID:33462405   PMID:33957083   PMID:33961781   PMID:34079125  
PMID:34668628   PMID:35256949   PMID:35395704   PMID:35922516   PMID:35944360   PMID:36209353   PMID:36215168   PMID:36423520   PMID:36443441   PMID:36484954   PMID:36788244   PMID:37080964  
PMID:37380771   PMID:37587773   PMID:37619958   PMID:37695069   PMID:37903990   PMID:38244593   PMID:38777146  


Genomics

Comparative Map Data
AIFM2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381070,112,271 - 70,132,825 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1070,098,223 - 70,132,934 (-)EnsemblGRCh38hg38GRCh38
GRCh371071,872,027 - 71,892,581 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361071,542,036 - 71,562,696 (-)NCBINCBI36Build 36hg18NCBI36
Celera1065,151,142 - 65,171,802 (-)NCBICelera
Cytogenetic Map10q22.1NCBI
HuRef1065,864,657 - 65,885,178 (-)NCBIHuRef
CHM1_11072,154,045 - 72,174,696 (-)NCBICHM1_1
T2T-CHM13v2.01070,981,272 - 71,001,807 (-)NCBIT2T-CHM13v2.0
Aifm2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391061,551,042 - 61,575,474 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1061,551,042 - 61,575,039 (+)EnsemblGRCm39 Ensembl
GRCm381061,715,263 - 61,739,260 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1061,715,263 - 61,739,260 (+)EnsemblGRCm38mm10GRCm38
MGSCv371061,178,011 - 61,202,008 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361061,110,645 - 61,134,617 (+)NCBIMGSCv36mm8
Celera1062,816,777 - 62,840,752 (+)NCBICelera
Cytogenetic Map10B4NCBI
cM Map1032.27NCBI
Aifm2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82030,195,781 - 30,222,014 (+)NCBIGRCr8
mRatBN7.22029,654,283 - 29,679,239 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2029,652,927 - 29,679,236 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2030,676,029 - 30,689,153 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02030,067,240 - 30,080,368 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02030,809,721 - 30,822,853 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02031,329,047 - 31,353,548 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2031,339,787 - 31,352,906 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02033,126,313 - 33,153,173 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42029,089,730 - 29,104,084 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12029,092,816 - 29,117,878 (+)NCBI
Celera2031,091,780 - 31,104,758 (+)NCBICelera
Cytogenetic Map20q11NCBI
Aifm2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543721,110,798 - 21,126,482 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495543721,111,298 - 21,126,487 (+)NCBIChiLan1.0ChiLan1.0
AIFM2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2882,209,189 - 82,286,359 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11082,213,225 - 82,308,666 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01066,529,411 - 66,621,122 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11069,114,188 - 69,135,265 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1069,114,194 - 69,135,267 (-)Ensemblpanpan1.1panPan2
AIFM2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1421,086,778 - 21,104,127 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl421,087,339 - 21,104,172 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha421,219,576 - 21,236,813 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0421,362,486 - 21,379,970 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1421,260,186 - 21,277,608 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0421,465,343 - 21,482,591 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0421,816,121 - 21,833,576 (-)NCBIUU_Cfam_GSD_1.0
Aifm2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721359,973,364 - 59,981,473 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365218,466,086 - 8,474,198 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365218,466,089 - 8,474,198 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AIFM2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1473,055,228 - 73,074,567 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11473,054,433 - 73,074,605 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21478,974,255 - 78,993,913 (-)NCBISscrofa10.2Sscrofa10.2susScr3
AIFM2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1961,174,125 - 61,197,848 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl961,182,826 - 61,195,769 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604821,913,157 - 21,936,632 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Aifm2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247544,276,928 - 4,301,365 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247544,276,579 - 4,301,058 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in AIFM2
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3 copy number gain See cases [RCV000051139] Chr10:70036168..70522664 [GRCh38]
Chr10:71795924..72282420 [GRCh37]
Chr10:71465930..71952426 [NCBI36]
Chr10:10q22.1		 uncertain significance
GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 copy number loss See cases [RCV000052530] Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2		 pathogenic
GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 copy number loss See cases [RCV000052511] Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2		 pathogenic
NM_001198696.1(AIFM2):c.861C>G (p.Ala287=) single nucleotide variant Malignant melanoma [RCV000069015] Chr10:70115029 [GRCh38]
Chr10:71874785 [GRCh37]
Chr10:71544791 [NCBI36]
Chr10:10q22.1		 not provided
GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 copy number gain See cases [RCV000134848] Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2		 pathogenic
GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 copy number gain See cases [RCV000135438] Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3		 pathogenic
GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 copy number loss See cases [RCV000136658] Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2		 pathogenic|likely benign
GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 copy number gain See cases [RCV000138007] Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_032797.6(AIFM2):c.370A>G (p.Ser124Gly) single nucleotide variant not specified [RCV004325447] Chr10:70121136 [GRCh38]
Chr10:71880892 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 copy number gain not provided [RCV000683289] Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_032797.6(AIFM2):c.758G>A (p.Arg253His) single nucleotide variant not specified [RCV004292964] Chr10:70116633 [GRCh38]
Chr10:71876389 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3 copy number gain not provided [RCV001832950] Chr10:71754361..72399690 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) copy number loss not specified [RCV002052875] Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3		 pathogenic
NM_032797.6(AIFM2):c.184G>A (p.Ala62Thr) single nucleotide variant not specified [RCV004125908] Chr10:70123515 [GRCh38]
Chr10:71883271 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.565C>T (p.Arg189Trp) single nucleotide variant not specified [RCV004196570] Chr10:70117863 [GRCh38]
Chr10:71877619 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.26C>T (p.Ser9Leu) single nucleotide variant not specified [RCV004210628] Chr10:70124059 [GRCh38]
Chr10:71883815 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.662G>A (p.Arg221Gln) single nucleotide variant not specified [RCV004214554] Chr10:70116729 [GRCh38]
Chr10:71876485 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.1043G>A (p.Arg348Gln) single nucleotide variant not specified [RCV004076170] Chr10:70114257 [GRCh38]
Chr10:71874013 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.971G>A (p.Gly324Asp) single nucleotide variant not specified [RCV004229160] Chr10:70114329 [GRCh38]
Chr10:71874085 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.44T>C (p.Val15Ala) single nucleotide variant not specified [RCV004122322] Chr10:70124041 [GRCh38]
Chr10:71883797 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.949C>G (p.Pro317Ala) single nucleotide variant not specified [RCV004176963] Chr10:70114941 [GRCh38]
Chr10:71874697 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.920C>T (p.Ala307Val) single nucleotide variant not specified [RCV004236228] Chr10:70114970 [GRCh38]
Chr10:71874726 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.326C>T (p.Thr109Met) single nucleotide variant not specified [RCV004221834] Chr10:70121180 [GRCh38]
Chr10:71880936 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.865G>A (p.Val289Met) single nucleotide variant not specified [RCV004258525] Chr10:70115025 [GRCh38]
Chr10:71874781 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.562G>A (p.Val188Ile) single nucleotide variant not specified [RCV004263163] Chr10:70117866 [GRCh38]
Chr10:71877622 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
NM_032797.6(AIFM2):c.913G>A (p.Ala305Thr) single nucleotide variant not specified [RCV004345637] Chr10:70114977 [GRCh38]
Chr10:71874733 [GRCh37]
Chr10:10q22.1		 uncertain significance
GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 copy number gain not provided [RCV003484798] Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2		 pathogenic
NM_032797.6(AIFM2):c.146A>G (p.Asn49Ser) single nucleotide variant not specified [RCV004395979] Chr10:70123939 [GRCh38]
Chr10:71883695 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.17C>T (p.Ser6Leu) single nucleotide variant not specified [RCV004395983] Chr10:70124068 [GRCh38]
Chr10:71883824 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.1069C>T (p.Arg357Trp) single nucleotide variant not specified [RCV004395968] Chr10:70114231 [GRCh38]
Chr10:71873987 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.35T>C (p.Leu12Pro) single nucleotide variant not specified [RCV004395998] Chr10:70124050 [GRCh38]
Chr10:71883806 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.1042C>T (p.Arg348Trp) single nucleotide variant not specified [RCV004395962] Chr10:70114258 [GRCh38]
Chr10:71874014 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.125T>C (p.Met42Thr) single nucleotide variant not specified [RCV004395977] Chr10:70123960 [GRCh38]
Chr10:71883716 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.968C>T (p.Pro323Leu) single nucleotide variant not specified [RCV004396037] Chr10:70114922 [GRCh38]
Chr10:71874678 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.49G>A (p.Val17Met) single nucleotide variant not specified [RCV004396010] Chr10:70124036 [GRCh38]
Chr10:71883792 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.1088C>T (p.Thr363Met) single nucleotide variant not specified [RCV004395972] Chr10:70114212 [GRCh38]
Chr10:71873968 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.227A>T (p.Asn76Ile) single nucleotide variant not specified [RCV004395992] Chr10:70123472 [GRCh38]
Chr10:71883228 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.566G>A (p.Arg189Gln) single nucleotide variant not specified [RCV004396020] Chr10:70117862 [GRCh38]
Chr10:71877618 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.601G>A (p.Val201Met) single nucleotide variant not specified [RCV004623586] Chr10:70117827 [GRCh38]
Chr10:71877583 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.296C>T (p.Ala99Val) single nucleotide variant not specified [RCV004623576] Chr10:70121210 [GRCh38]
Chr10:71880966 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.161G>A (p.Arg54Gln) single nucleotide variant not specified [RCV004623568] Chr10:70123924 [GRCh38]
Chr10:71883680 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.812A>C (p.His271Pro) single nucleotide variant not specified [RCV004623597] Chr10:70115078 [GRCh38]
Chr10:71874834 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.973G>A (p.Ala325Thr) single nucleotide variant not specified [RCV004623607] Chr10:70114327 [GRCh38]
Chr10:71874083 [GRCh37]
Chr10:10q22.1		 uncertain significance
NM_032797.6(AIFM2):c.947G>A (p.Arg316Gln) single nucleotide variant not specified [RCV004623559] Chr10:70114943 [GRCh38]
Chr10:71874699 [GRCh37]
Chr10:10q22.1		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR140hsa-miR-140-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:1824
Count of miRNA genes:956
Interacting mature miRNAs:1176
Transcripts:ENST00000307864, ENST00000373248, ENST00000482166
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407011427GWAS660403_Hrheumatoid arthritis QTL GWAS660403 (human)4e-08rheumatoid arthritis107012110270121103Human
407004784GWAS653760_Hinterleukin 18 measurement QTL GWAS653760 (human)0.000008interleukin 18 measurement107012145270121453Human
406899684GWAS548660_Hsusceptibility to pneumonia measurement QTL GWAS548660 (human)0.000001susceptibility to pneumonia measurement107011598970115990Human
407201043GWAS850019_HBMI-adjusted waist-hip ratio QTL GWAS850019 (human)2e-09BMI-adjusted waist-hip ratio107012408070124081Human
406936809GWAS585785_HBMI-adjusted waist-hip ratio QTL GWAS585785 (human)1e-10BMI-adjusted waist-hip ratio107012408070124081Human
407320047GWAS969023_HBMI-adjusted waist-hip ratio QTL GWAS969023 (human)4e-11BMI-adjusted waist-hip ratio107012408070124081Human
407109885GWAS758861_Hwaist-hip ratio QTL GWAS758861 (human)4e-10waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)107012408070124081Human
407094393GWAS743369_HBMI-adjusted waist-hip ratio QTL GWAS743369 (human)5e-10BMI-adjusted waist-hip ratio107012408070124081Human
407161663GWAS810639_HFEV/FVC ratio, response to bronchodilator QTL GWAS810639 (human)0.000001FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)107012054570120546Human
407206766GWAS855742_Htriglyceride measurement QTL GWAS855742 (human)1e-08triglyceride measurementblood triglyceride level (CMO:0000118)107012408070124081Human
407206504GWAS855480_Hhigh density lipoprotein cholesterol measurement QTL GWAS855480 (human)6e-12high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)107012408070124081Human

Markers in Region
RH99102  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371071,872,125 - 71,872,257UniSTSGRCh37
Build 361071,542,131 - 71,542,263RGDNCBI36
Celera1065,151,237 - 65,151,369RGD
Cytogenetic Map10q22.1UniSTS
HuRef1065,864,759 - 65,864,891UniSTS
GeneMap99-GB4 RH Map10370.67UniSTS
D10S2375  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371071,873,775 - 71,873,914UniSTSGRCh37
Build 361071,543,781 - 71,543,920RGDNCBI36
Celera1065,152,887 - 65,153,026RGD
Cytogenetic Map10q22.1UniSTS
HuRef1065,866,409 - 65,866,548UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2433 2788 2248 4953 1725 2348 4 624 1944 465 2269 7288 6458 53 3716 1 851 1737 1613 174 1

Sequence


Ensembl Acc Id: ENST00000307864   ⟹   ENSP00000312370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1070,112,271 - 70,132,825 (-)Ensembl
Ensembl Acc Id: ENST00000373248   ⟹   ENSP00000362345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1070,098,223 - 70,124,102 (-)Ensembl
Ensembl Acc Id: ENST00000482166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1070,114,775 - 70,118,351 (-)Ensembl
Ensembl Acc Id: ENST00000613322   ⟹   ENSP00000478931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1070,112,270 - 70,132,934 (-)Ensembl
RefSeq Acc Id: NM_001198696   ⟹   NP_001185625
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,112,271 - 70,132,825 (-)NCBI
GRCh371071,872,023 - 71,892,832 (-)NCBI
HuRef1065,864,657 - 65,885,178 (-)ENTREZGENE
CHM1_11072,154,045 - 72,174,696 (-)NCBI
T2T-CHM13v2.01070,981,272 - 71,001,807 (-)NCBI
Sequence:
RefSeq Acc Id: NM_032797   ⟹   NP_116186
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,112,271 - 70,132,825 (-)NCBI
GRCh371071,872,023 - 71,892,832 (-)NCBI
Build 361071,542,036 - 71,562,696 (-)NCBI Archive
HuRef1065,864,657 - 65,885,178 (-)ENTREZGENE
CHM1_11072,154,045 - 72,174,696 (-)NCBI
T2T-CHM13v2.01070,981,272 - 71,001,807 (-)NCBI
Sequence:
RefSeq Acc Id: NP_116186   ⟸   NM_032797
- UniProtKB: B3KXI0 (UniProtKB/Swiss-Prot),   Q63Z39 (UniProtKB/Swiss-Prot),   Q9BRQ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185625   ⟸   NM_001198696
- UniProtKB: B3KXI0 (UniProtKB/Swiss-Prot),   Q63Z39 (UniProtKB/Swiss-Prot),   Q9BRQ8 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000312370   ⟸   ENST00000307864
Ensembl Acc Id: ENSP00000362345   ⟸   ENST00000373248
Ensembl Acc Id: ENSP00000478931   ⟸   ENST00000613322

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BRQ8-F1-model_v2 AlphaFold Q9BRQ8 1-373 view protein structure

Promoters
RGD ID:7217749
Promoter ID:EPDNEW_H14620
Type:initiation region
Name:AIFM2_3
Description:apoptosis inducing factor, mitochondria associated 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H14622  EPDNEW_H14625  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381070,132,812 - 70,132,872EPDNEW
RGD ID:6787530
Promoter ID:HG_KWN:9903
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000395039,   NM_032797
Position:
Human AssemblyChrPosition (strand)Source
Build 361071,562,236 - 71,562,736 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21411 AgrOrtholog
COSMIC AIFM2 COSMIC
Ensembl Genes ENSG00000042286 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307864 ENTREZGENE
  ENST00000307864.3 UniProtKB/Swiss-Prot
  ENST00000373248.5 UniProtKB/Swiss-Prot
  ENST00000613322 ENTREZGENE
  ENST00000613322.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.50.50.100 UniProtKB/Swiss-Prot
GTEx ENSG00000042286 GTEx
HGNC ID HGNC:21411 ENTREZGENE
Human Proteome Map AIFM2 Human Proteome Map
InterPro FAD/NAD-bd_sf UniProtKB/Swiss-Prot
  FAD/NAD-binding_dom UniProtKB/Swiss-Prot
KEGG Report hsa:84883 UniProtKB/Swiss-Prot
NCBI Gene 84883 ENTREZGENE
OMIM 605159 OMIM
PANTHER APOPTOSIS-INDUCING FACTOR 1 UniProtKB/Swiss-Prot
  FERROPTOSIS SUPPRESSOR PROTEIN 1 UniProtKB/Swiss-Prot
Pfam Pyr_redox_2 UniProtKB/Swiss-Prot
PharmGKB PA162376150 PharmGKB
PRINTS FADPNR UniProtKB/Swiss-Prot
  PNDRDTASEII UniProtKB/Swiss-Prot
Superfamily-SCOP SSF51905 UniProtKB/Swiss-Prot
UniProt AIFM2_HUMAN UniProtKB/Swiss-Prot
  B3KXI0 ENTREZGENE
  Q63Z39 ENTREZGENE
  Q9BRQ8 ENTREZGENE
UniProt Secondary B3KXI0 UniProtKB/Swiss-Prot
  Q63Z39 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2024-08-26 AIFM2  AIF family member 2  AIFM2  apoptosis inducing factor mitochondria associated 2  Symbol and/or name change 19259463 PROVISIONAL
2019-01-22 AIFM2  apoptosis inducing factor mitochondria associated 2  AIFM2  apoptosis inducing factor, mitochondria associated 2  Symbol and/or name change 5135510 APPROVED
2015-11-24 AIFM2  apoptosis inducing factor, mitochondria associated 2  AIFM2  apoptosis-inducing factor, mitochondrion-associated, 2  Symbol and/or name change 5135510 APPROVED