MFF (mitochondrial fission factor) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: MFF (mitochondrial fission factor) Homo sapiens
Analyze
Symbol: MFF
Name: mitochondrial fission factor
RGD ID: 1321011
HGNC Page HGNC
Description: Enables protein homodimerization activity. Involved in several processes, including mitochondrion organization; peroxisome fission; and positive regulation of mitochondrion organization. Acts upstream of or within mitochondrion morphogenesis. Located in mitochondrial outer membrane and peroxisome. Is integral component of mitochondrial membrane. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C2orf33; DKFZp666J168; EMPF2; GL004; MGC110913; mitochondrial fission factor homolog B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC234775.1   LOC100420262   MFFP1   MFFP2   MFFP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2227,325,151 - 227,357,836 (+)EnsemblGRCh38hg38GRCh38
GRCh382227,325,233 - 227,357,836 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372228,189,967 - 228,222,552 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,900,472 - 227,930,793 (+)NCBINCBI36hg18NCBI36
Build 342228,017,732 - 228,048,052NCBI
Celera2221,961,362 - 221,991,712 (+)NCBI
Cytogenetic Map2q36.3NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBIHuRef
CHM1_12228,195,676 - 228,228,351 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:12477932   PMID:16344560   PMID:18029348   PMID:18353969   PMID:21149567   PMID:21509594   PMID:21701560   PMID:21725060   PMID:21873635   PMID:21885730   PMID:22334657   PMID:22499341  
PMID:22595523   PMID:22878233   PMID:22939629   PMID:23283981   PMID:23284813   PMID:23444366   PMID:23530241   PMID:23921378   PMID:25431021   PMID:25912308   PMID:26008206   PMID:26358295  
PMID:26514267   PMID:26578513   PMID:26783368   PMID:26972000   PMID:27432908   PMID:28057766   PMID:28262828   PMID:28514442   PMID:29346117   PMID:29464060   PMID:29496454   PMID:29568061  
PMID:29725013   PMID:29874585   PMID:30191967   PMID:30232469   PMID:30407695   PMID:30745168   PMID:31115479   PMID:31527615   PMID:31533986   PMID:31582380   PMID:31617661   PMID:31723608  
PMID:31941601   PMID:32181496   PMID:32224193   PMID:32296183   PMID:32877691   PMID:34079125  


Genomics

Comparative Map Data
MFF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2227,325,151 - 227,357,836 (+)EnsemblGRCh38hg38GRCh38
GRCh382227,325,233 - 227,357,836 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh372228,189,967 - 228,222,552 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,900,472 - 227,930,793 (+)NCBINCBI36hg18NCBI36
Build 342228,017,732 - 228,048,052NCBI
Celera2221,961,362 - 221,991,712 (+)NCBI
Cytogenetic Map2q36.3NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBIHuRef
CHM1_12228,195,676 - 228,228,351 (+)NCBICHM1_1
Mff
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39182,702,599 - 82,730,111 (+)NCBIGRCm39mm39
GRCm39 Ensembl182,702,611 - 82,730,115 (+)Ensembl
GRCm38182,724,890 - 82,752,390 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl182,724,890 - 82,752,394 (+)EnsemblGRCm38mm10GRCm38
MGSCv37182,721,493 - 82,748,965 (+)NCBIGRCm37mm9NCBIm37
MGSCv36182,603,942 - 82,631,414 (+)NCBImm8
Celera182,791,317 - 82,818,740 (+)NCBICelera
Cytogenetic Map1C5NCBI
Mff
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2984,007,798 - 84,036,039 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl984,007,798 - 84,036,039 (+)Ensembl
Rnor_6.0988,490,280 - 88,518,517 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl988,493,593 - 88,517,827 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl990,880,614 - 90,908,852 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0988,237,923 - 88,266,173 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4982,045,236 - 82,071,135 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1982,226,339 - 82,254,116 (+)NCBI
Celera981,449,284 - 81,477,522 (+)NCBICelera
Cytogenetic Map9q34NCBI
Mff
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554537,221,244 - 7,256,029 (-)NCBIChiLan1.0ChiLan1.0
MFF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B233,381,466 - 233,413,784 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B233,381,466 - 233,413,778 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B114,569,893 - 114,602,158 (+)NCBIMhudiblu_PPA_v0panPan3
MFF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12540,111,860 - 40,142,246 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2540,111,894 - 40,141,776 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2540,729,454 - 40,759,752 (+)NCBI
ROS_Cfam_1.02540,359,046 - 40,389,383 (+)NCBI
UMICH_Zoey_3.12540,296,257 - 40,326,536 (+)NCBI
UNSW_CanFamBas_1.02540,136,663 - 40,166,970 (+)NCBI
UU_Cfam_GSD_1.02540,310,286 - 40,340,831 (+)NCBI
Mff
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303182,303,437 - 182,336,660 (+)NCBI
SpeTri2.0NW_0049365258,604,478 - 8,636,352 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MFF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15128,768,348 - 128,799,345 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115128,768,441 - 128,799,355 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215142,603,384 - 142,605,459 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MFF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110113,348,330 - 113,381,875 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl10113,348,446 - 113,381,162 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604086,070,374 - 86,102,885 (-)NCBIVero_WHO_p1.0
Mff
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248431,626,800 - 1,664,906 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-12020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,311,518 - 149,311,667UniSTSGRCh37
GRCh372228,221,738 - 228,221,887UniSTSGRCh37
Build 362227,929,982 - 227,930,131RGDNCBI36
Celera2221,990,901 - 221,991,050RGD
Celera5145,392,915 - 145,393,064UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map5q31.2-q34UniSTS
HuRef5144,459,460 - 144,459,609UniSTS
HuRef2220,065,136 - 220,065,285UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
Whitehead-RH Map21050.8UniSTS
SHGC-132181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,222,379 - 228,222,483UniSTSGRCh37
Build 362227,930,623 - 227,930,727RGDNCBI36
Celera2221,991,542 - 221,991,646RGD
Cytogenetic Map2q36.3UniSTS
HuRef2220,065,777 - 220,065,881UniSTS
TNG Radiation Hybrid Map2125117.0UniSTS
SHGC-142182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,210,717 - 228,210,998UniSTSGRCh37
Build 362227,918,961 - 227,919,242RGDNCBI36
Celera2221,979,874 - 221,980,155RGD
Cytogenetic Map2q36.3UniSTS
HuRef2220,054,119 - 220,054,400UniSTS
TNG Radiation Hybrid Map2125117.0UniSTS
D2S2842  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,310,996 - 149,311,129UniSTSGRCh37
GRCh372228,222,349 - 228,222,482UniSTSGRCh37
GRCh372228,222,388 - 228,222,503UniSTSGRCh37
Build 362227,930,593 - 227,930,726RGDNCBI36
Celera2221,991,512 - 221,991,645RGD
Celera2221,991,551 - 221,991,666UniSTS
Celera5145,392,393 - 145,392,526UniSTS
Cytogenetic Map2q36.3UniSTS
HuRef5144,458,938 - 144,459,071UniSTS
HuRef2220,065,747 - 220,065,880UniSTS
HuRef2220,065,786 - 220,065,901UniSTS
TNG Radiation Hybrid Map2125117.0UniSTS
GeneMap99-G3 RH Map29663.0UniSTS
A003P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375149,311,002 - 149,311,125UniSTSGRCh37
GRCh372228,222,353 - 228,222,476UniSTSGRCh37
Build 362227,930,597 - 227,930,720RGDNCBI36
Celera2221,991,516 - 221,991,639RGD
Celera5145,392,399 - 145,392,522UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map5q31.2-q34UniSTS
HuRef5144,458,944 - 144,459,067UniSTS
HuRef2220,065,751 - 220,065,874UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
Whitehead-RH Map21050.9UniSTS
NCBI RH Map21857.1UniSTS
WIAF-1526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,192,748 - 228,192,918UniSTSGRCh37
Build 362227,900,992 - 227,901,162RGDNCBI36
Celera2221,961,882 - 221,962,052RGD
Cytogenetic Map2q36.3UniSTS
HuRef2220,036,157 - 220,036,327UniSTS
GeneMap99-GB4 RH Map2706.59UniSTS
NCBI RH Map21877.6UniSTS
SHGC-32970  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,190,728 - 228,190,853UniSTSGRCh37
Build 362227,898,972 - 227,899,097RGDNCBI36
Celera2221,959,859 - 221,959,984RGD
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map2q36-q37UniSTS
HuRef2220,034,134 - 220,034,259UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
Whitehead-RH Map21050.9UniSTS
GeneMap99-G3 RH Map29663.0UniSTS
D2S2842  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q36.3UniSTS
GeneMap99-G3 RH Map55550.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3775
Count of miRNA genes:805
Interacting mature miRNAs:914
Transcripts:ENST00000304593, ENST00000337110, ENST00000349901, ENST00000353339, ENST00000354503, ENST00000392059, ENST00000409565, ENST00000409616, ENST00000418961, ENST00000423098, ENST00000436237, ENST00000436791, ENST00000443428, ENST00000452930, ENST00000456345, ENST00000460756, ENST00000470090, ENST00000476262, ENST00000476924, ENST00000477362, ENST00000489696, ENST00000490857, ENST00000524634, ENST00000525195, ENST00000530359, ENST00000531278, ENST00000534203
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2436 2801 1637 538 1841 379 4356 2122 3719 414 1459 1610 175 1 1204 2788 6 2
Low 3 190 89 86 110 86 1 75 15 5 1 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_033153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001277068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020194 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_102266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017004515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA629429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097662 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF226049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF246239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF258660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL517791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL559606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI550249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ653061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA737008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB043777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  W58482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000304593   ⟹   ENSP00000304898
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,251 - 227,357,833 (+)Ensembl
RefSeq Acc Id: ENST00000337110   ⟹   ENSP00000338412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,268 - 227,357,833 (+)Ensembl
RefSeq Acc Id: ENST00000349901   ⟹   ENSP00000304134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,276 - 227,357,812 (+)Ensembl
RefSeq Acc Id: ENST00000353339   ⟹   ENSP00000302037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,239 - 227,357,833 (+)Ensembl
RefSeq Acc Id: ENST00000354503   ⟹   ENSP00000346498
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,250 - 227,357,215 (+)Ensembl
RefSeq Acc Id: ENST00000392059   ⟹   ENSP00000375912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,328,678 - 227,357,836 (+)Ensembl
RefSeq Acc Id: ENST00000409565   ⟹   ENSP00000386964
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,259 - 227,357,799 (+)Ensembl
RefSeq Acc Id: ENST00000409616   ⟹   ENSP00000386641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,262 - 227,357,151 (+)Ensembl
RefSeq Acc Id: ENST00000418961   ⟹   ENSP00000407547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,451 - 227,330,845 (+)Ensembl
RefSeq Acc Id: ENST00000423098   ⟹   ENSP00000390165
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,151 - 227,330,763 (+)Ensembl
RefSeq Acc Id: ENST00000436237   ⟹   ENSP00000411386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,365 - 227,330,689 (+)Ensembl
RefSeq Acc Id: ENST00000436791
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,330,701 - 227,347,383 (+)Ensembl
RefSeq Acc Id: ENST00000443428   ⟹   ENSP00000391829
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,443 - 227,330,801 (+)Ensembl
RefSeq Acc Id: ENST00000452930   ⟹   ENSP00000415996
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,261 - 227,340,354 (+)Ensembl
RefSeq Acc Id: ENST00000456345   ⟹   ENSP00000415313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,340,292 - 227,357,381 (+)Ensembl
RefSeq Acc Id: ENST00000460756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,265 - 227,357,833 (+)Ensembl
RefSeq Acc Id: ENST00000470090
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,271 - 227,340,561 (+)Ensembl
RefSeq Acc Id: ENST00000476262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,351,681 - 227,357,831 (+)Ensembl
RefSeq Acc Id: ENST00000476924
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,221 - 227,357,254 (+)Ensembl
RefSeq Acc Id: ENST00000477362
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,355,298 - 227,357,181 (+)Ensembl
RefSeq Acc Id: ENST00000489696
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,234 - 227,332,499 (+)Ensembl
RefSeq Acc Id: ENST00000490857
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,346,725 - 227,357,833 (+)Ensembl
RefSeq Acc Id: ENST00000524634   ⟹   ENSP00000436289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,271 - 227,357,131 (+)Ensembl
RefSeq Acc Id: ENST00000525195   ⟹   ENSP00000436920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,271 - 227,330,822 (+)Ensembl
RefSeq Acc Id: ENST00000530359   ⟹   ENSP00000431725
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,251 - 227,347,274 (+)Ensembl
RefSeq Acc Id: ENST00000531278   ⟹   ENSP00000432447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,257 - 227,347,379 (+)Ensembl
RefSeq Acc Id: ENST00000534203   ⟹   ENSP00000435354
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,325,271 - 227,355,761 (+)Ensembl
RefSeq Acc Id: NM_001277061   ⟹   NP_001263990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,195,676 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277062   ⟹   NP_001263991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,195,676 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277063   ⟹   NP_001263992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,195,676 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277064   ⟹   NP_001263993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,195,676 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277065   ⟹   NP_001263994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,195,676 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277066   ⟹   NP_001263995
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,195,676 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277067   ⟹   NP_001263996
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,328,678 - 227,357,836 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,199,203 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277068   ⟹   NP_001263997
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,328,678 - 227,357,836 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,199,203 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020194   ⟹   NP_064579
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,327,512 - 227,357,836 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Build 362227,900,472 - 227,930,793 (+)NCBI Archive
Celera2221,961,362 - 221,991,712 (+)RGD
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,198,040 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: NR_102266
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
HuRef2220,033,273 - 220,065,950 (+)NCBI
CHM1_12228,195,676 - 228,228,351 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246681   ⟹   XP_005246738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,233 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246682   ⟹   XP_005246739
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,233 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246683   ⟹   XP_005246740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,234 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246684   ⟹   XP_005246741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,233 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246685   ⟹   XP_005246742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,233 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246686   ⟹   XP_005246743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,233 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246687   ⟹   XP_005246744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,233 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005246688   ⟹   XP_005246745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,233 - 227,357,833 (+)NCBI
GRCh372228,189,867 - 228,222,552 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712637   ⟹   XP_006712700
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712638   ⟹   XP_006712701
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006712639   ⟹   XP_006712702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511500   ⟹   XP_011509802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,474 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511501   ⟹   XP_011509803
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,275 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004512   ⟹   XP_016860001
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,282 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004513   ⟹   XP_016860002
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,234 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004514   ⟹   XP_016860003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017004515   ⟹   XP_016860004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,251 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453008   ⟹   XP_024308776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,275 - 227,357,833 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024453009   ⟹   XP_024308777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,325,426 - 227,357,833 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001263990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263993 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263994 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263995 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263996 (Get FASTA)   NCBI Sequence Viewer  
  NP_001263997 (Get FASTA)   NCBI Sequence Viewer  
  NP_064579 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246738 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246739 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246740 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246741 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246742 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246743 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246744 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246745 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712700 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712701 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712702 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509802 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509803 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860001 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860002 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860003 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860004 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308776 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308777 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF86949 (Get FASTA)   NCBI Sequence Viewer  
  AAG44486 (Get FASTA)   NCBI Sequence Viewer  
  AAG44658 (Get FASTA)   NCBI Sequence Viewer  
  AAH00797 (Get FASTA)   NCBI Sequence Viewer  
  AAH93024 (Get FASTA)   NCBI Sequence Viewer  
  AAY24252 (Get FASTA)   NCBI Sequence Viewer  
  BAB15373 (Get FASTA)   NCBI Sequence Viewer  
  CAH56328 (Get FASTA)   NCBI Sequence Viewer  
  EAW70859 (Get FASTA)   NCBI Sequence Viewer  
  EAW70860 (Get FASTA)   NCBI Sequence Viewer  
  EAW70861 (Get FASTA)   NCBI Sequence Viewer  
  EAW70862 (Get FASTA)   NCBI Sequence Viewer  
  EAW70863 (Get FASTA)   NCBI Sequence Viewer  
  EAW70864 (Get FASTA)   NCBI Sequence Viewer  
  EAW70865 (Get FASTA)   NCBI Sequence Viewer  
  EAW70866 (Get FASTA)   NCBI Sequence Viewer  
  EAW70867 (Get FASTA)   NCBI Sequence Viewer  
  EAW70868 (Get FASTA)   NCBI Sequence Viewer  
  EAW70869 (Get FASTA)   NCBI Sequence Viewer  
  Q9GZY8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_064579   ⟸   NM_020194
- Peptide Label: isoform a
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot),   A0A024R491 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263990   ⟸   NM_001277061
- Peptide Label: isoform a
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot),   A0A024R491 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263992   ⟸   NM_001277063
- Peptide Label: isoform c
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263991   ⟸   NM_001277062
- Peptide Label: isoform b
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263993   ⟸   NM_001277064
- Peptide Label: isoform d
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263994   ⟸   NM_001277065
- Peptide Label: isoform e
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263995   ⟸   NM_001277066
- Peptide Label: isoform e
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001263996   ⟸   NM_001277067
- Peptide Label: isoform f
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot),   A0A0A0MS29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001263997   ⟸   NM_001277068
- Peptide Label: isoform g
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246738   ⟸   XM_005246681
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005246742   ⟸   XM_005246685
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_005246743   ⟸   XM_005246686
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_005246739   ⟸   XM_005246682
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_005246741   ⟸   XM_005246684
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005246744   ⟸   XM_005246687
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_005246745   ⟸   XM_005246688
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_005246740   ⟸   XM_005246683
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006712702   ⟸   XM_006712639
- Peptide Label: isoform X13
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006712700   ⟸   XM_006712637
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_006712701   ⟸   XM_006712638
- Peptide Label: isoform X6
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011509803   ⟸   XM_011511501
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011509802   ⟸   XM_011511500
- Peptide Label: isoform X1
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot),   A0A024R491 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016860004   ⟸   XM_017004515
- Peptide Label: isoform X12
- UniProtKB: Q9GZY8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860003   ⟸   XM_017004514
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016860002   ⟸   XM_017004513
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016860001   ⟸   XM_017004512
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024308776   ⟸   XM_024453008
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024308777   ⟸   XM_024453009
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: ENSP00000390165   ⟸   ENST00000423098
RefSeq Acc Id: ENSP00000431725   ⟸   ENST00000530359
RefSeq Acc Id: ENSP00000415996   ⟸   ENST00000452930
RefSeq Acc Id: ENSP00000304134   ⟸   ENST00000349901
RefSeq Acc Id: ENSP00000432447   ⟸   ENST00000531278
RefSeq Acc Id: ENSP00000338412   ⟸   ENST00000337110
RefSeq Acc Id: ENSP00000435354   ⟸   ENST00000534203
RefSeq Acc Id: ENSP00000415313   ⟸   ENST00000456345
RefSeq Acc Id: ENSP00000391829   ⟸   ENST00000443428
RefSeq Acc Id: ENSP00000407547   ⟸   ENST00000418961
RefSeq Acc Id: ENSP00000436289   ⟸   ENST00000524634
RefSeq Acc Id: ENSP00000302037   ⟸   ENST00000353339
RefSeq Acc Id: ENSP00000375912   ⟸   ENST00000392059
RefSeq Acc Id: ENSP00000346498   ⟸   ENST00000354503
RefSeq Acc Id: ENSP00000436920   ⟸   ENST00000525195
RefSeq Acc Id: ENSP00000386641   ⟸   ENST00000409616
RefSeq Acc Id: ENSP00000386964   ⟸   ENST00000409565
RefSeq Acc Id: ENSP00000411386   ⟸   ENST00000436237
RefSeq Acc Id: ENSP00000304898   ⟸   ENST00000304593
Protein Domains
Miff

Promoters
RGD ID:6862996
Promoter ID:EPDNEW_H4663
Type:initiation region
Name:MFF_1
Description:mitochondrial fission factor
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
GRCh382227,325,268 - 227,325,328EPDNEW
RGD ID:6797812
Promoter ID:HG_KWN:37545
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000353339,   ENST00000354503,   OTTHUMT00000331391,   OTTHUMT00000331392,   OTTHUMT00000331397,   OTTHUMT00000331398,   OTTHUMT00000331399,   OTTHUMT00000331400,   OTTHUMT00000331401,   OTTHUMT00000331404,   OTTHUMT00000331405,   OTTHUMT00000331406,   OTTHUMT00000331408,   UC002VOU.1,   UC002VOV.1,   UC002VOW.1,   UC002VOX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,898,014 - 227,898,514 (+)MPROMDB
RGD ID:6797802
Promoter ID:HG_KWN:37550
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000331407
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,912,186 - 227,912,686 (+)MPROMDB
RGD ID:6797801
Promoter ID:HG_KWN:37552
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000331395
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,924,564 - 227,925,064 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001277062.2(MFF):c.112C>T (p.Gln38Ter) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV000033052]|Mitochondrial encephalomyopathy [RCV000162157] Chr2:227330777 [GRCh38]
Chr2:228195493 [GRCh37]
Chr2:2q36.3
pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1 copy number loss See cases [RCV000052638] Chr2:227343278..235339168 [GRCh38]
Chr2:228207994..236247812 [GRCh37]
Chr2:227916238..235912551 [NCBI36]
Chr2:2q36.3-37.2
pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3
pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3
pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3
pathogenic
NM_001277062.2(MFF):c.660-3C>T single nucleotide variant not specified [RCV000602859] Chr2:227355674 [GRCh38]
Chr2:228220390 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.856T>C (p.Trp286Arg) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001331859] Chr2:227357097 [GRCh38]
Chr2:228221813 [GRCh37]
Chr2:2q36.3
uncertain significance
NM_001277062.2(MFF):c.-41+1G>C single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001291670] Chr2:227328790 [GRCh38]
Chr2:228193506 [GRCh37]
Chr2:2q36.3
uncertain significance
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3
pathogenic
NM_001277062.2(MFF):c.406C>T (p.Arg136Cys) single nucleotide variant not specified [RCV000203122] Chr2:227340346 [GRCh38]
Chr2:228205062 [GRCh37]
Chr2:2q36.3
uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3
pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3
pathogenic
NM_001277062.2(MFF):c.739C>T (p.Arg247Ter) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV000239619] Chr2:227355756 [GRCh38]
Chr2:228220472 [GRCh37]
Chr2:2q36.3
pathogenic
NM_001277062.2(MFF):c.375_376del (p.Glu127fs) deletion Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV000239645] Chr2:227340312..227340313 [GRCh38]
Chr2:228205028..228205029 [GRCh37]
Chr2:2q36.3
pathogenic
NM_001277062.2(MFF):c.106dup (p.Leu36fs) duplication Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV000239691] Chr2:227330769..227330770 [GRCh38]
Chr2:228195485..228195486 [GRCh37]
Chr2:2q36.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001277062.2(MFF):c.-40-888G>A single nucleotide variant not specified [RCV000420801] Chr2:227329738 [GRCh38]
Chr2:228194454 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.285G>A (p.Thr95=) single nucleotide variant not specified [RCV000423986] Chr2:227332522 [GRCh38]
Chr2:228197238 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.599+14C>T single nucleotide variant not specified [RCV000424205] Chr2:227347398 [GRCh38]
Chr2:228212114 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.768A>G (p.Leu256=) single nucleotide variant not specified [RCV000434668] Chr2:227357009 [GRCh38]
Chr2:228221725 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.372A>G (p.Leu124=) single nucleotide variant not specified [RCV000421313] Chr2:227340312 [GRCh38]
Chr2:228205028 [GRCh37]
Chr2:2q36.3
likely benign
NM_000169.3(GLA):c.48T>G (p.Leu16=) single nucleotide variant not provided [RCV001703607] Chr2:227357135 [GRCh38]
Chr2:228221851 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.440+2458T>G single nucleotide variant not specified [RCV000422158] Chr2:227342838 [GRCh38]
Chr2:228207554 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.-40-861G>T single nucleotide variant not specified [RCV000419895] Chr2:227329765 [GRCh38]
Chr2:228194481 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.-40-829T>G single nucleotide variant not specified [RCV000443561] Chr2:227329797 [GRCh38]
Chr2:228194513 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.630C>A (p.Ala210=) single nucleotide variant not specified [RCV000433374] Chr2:227352544 [GRCh38]
Chr2:228217260 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.-40-862A>T single nucleotide variant not specified [RCV000437096] Chr2:227329764 [GRCh38]
Chr2:228194480 [GRCh37]
Chr2:2q36.3
benign
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001277062.2(MFF):c.-139_-138TC[1] microsatellite not specified [RCV000482688] Chr2:227328690..227328691 [GRCh38]
Chr2:228193406..228193407 [GRCh37]
Chr2:2q36.3
likely benign
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3
pathogenic
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NM_001277062.2(MFF):c.284del (p.Thr95fs) deletion Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV000656526] Chr2:227332521 [GRCh38]
Chr2:228197237 [GRCh37]
Chr2:2q36.3
pathogenic
NM_001277062.2(MFF):c.-50T>A single nucleotide variant not specified [RCV000615047] Chr2:227328780 [GRCh38]
Chr2:228193496 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.600-17G>A single nucleotide variant not specified [RCV000610845] Chr2:227352497 [GRCh38]
Chr2:228217213 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.27C>T (p.Tyr9=) single nucleotide variant not specified [RCV000614192] Chr2:227330692 [GRCh38]
Chr2:228195408 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.253C>T (p.Leu85=) single nucleotide variant not provided [RCV001697547] Chr2:227332490 [GRCh38]
Chr2:228197206 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.699G>A (p.Thr233=) single nucleotide variant not specified [RCV000601180] Chr2:227355716 [GRCh38]
Chr2:228220432 [GRCh37]
Chr2:2q36.3
likely benign
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q36.3(chr2:228133809-228258339)x3 copy number gain not provided [RCV000740924] Chr2:228133809..228258339 [GRCh37]
Chr2:2q36.3
benign
GRCh37/hg19 2q36.3(chr2:228173636-228248642)x3 copy number gain not provided [RCV000740925] Chr2:228173636..228248642 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.-40-772G>A single nucleotide variant not provided [RCV001540625] Chr2:227329854 [GRCh38]
Chr2:228194570 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.-40-79G>A single nucleotide variant not provided [RCV001564565] Chr2:227330547 [GRCh38]
Chr2:228195263 [GRCh37]
Chr2:2q36.3
likely benign
null single nucleotide variant not provided [RCV001666288] Chr2:227355812 [GRCh38]
Chr2:228220528 [GRCh37]
Chr2:2q36.3
benign
null single nucleotide variant not provided [RCV001666300] Chr2:227340213 [GRCh38]
Chr2:228204929 [GRCh37]
Chr2:2q36.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001680688] Chr2:227328648 [GRCh38]
Chr2:228193364 [GRCh37]
Chr2:2q36.3
benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001583565] Chr2:227357425 [GRCh38]
Chr2:228222141 [GRCh37]
Chr2:2q36.3
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001648569] Chr2:227332874 [GRCh38]
Chr2:228197590 [GRCh37]
Chr2:2q36.3
benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3
pathogenic
NM_001277062.2(MFF):c.-40-294G>A single nucleotide variant not provided [RCV000832434] Chr2:227330332 [GRCh38]
Chr2:228195048 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.182-167G>A single nucleotide variant not provided [RCV000828574] Chr2:227332252 [GRCh38]
Chr2:228196968 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.-40-291G>A single nucleotide variant not provided [RCV000832129] Chr2:227330335 [GRCh38]
Chr2:228195051 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.745-42A>T single nucleotide variant not provided [RCV000838505] Chr2:227356944 [GRCh38]
Chr2:228221660 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.-40-689C>T single nucleotide variant not provided [RCV000844449] Chr2:227329937 [GRCh38]
Chr2:228194653 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.744+292T>C single nucleotide variant not provided [RCV000844457] Chr2:227356053 [GRCh38]
Chr2:228220769 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.181+8A>G single nucleotide variant not provided [RCV000827403] Chr2:227330854 [GRCh38]
Chr2:228195570 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.660-60G>A single nucleotide variant not provided [RCV000834923] Chr2:227355617 [GRCh38]
Chr2:228220333 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.660-105A>G single nucleotide variant not provided [RCV000835549] Chr2:227355572 [GRCh38]
Chr2:228220288 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.660-166T>C single nucleotide variant not provided [RCV000828576] Chr2:227355511 [GRCh38]
Chr2:228220227 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV000785004] Chr2:227332574 [GRCh38]
Chr2:228197290 [GRCh37]
Chr2:2q36.3
uncertain significance
NM_001277062.2(MFF):c.181+16T>C single nucleotide variant not provided [RCV000828186] Chr2:227330862 [GRCh38]
Chr2:228195578 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.660-232C>T single nucleotide variant not provided [RCV000828575] Chr2:227355445 [GRCh38]
Chr2:228220161 [GRCh37]
Chr2:2q36.3
benign
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=) deletion not provided [RCV001643683] Chr2:227355988..227355990 [GRCh38]
Chr2:228220704..228220706 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.351+184A>G single nucleotide variant not provided [RCV000844451] Chr2:227332772 [GRCh38]
Chr2:228197488 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.440+2680C>A single nucleotide variant not provided [RCV000844456] Chr2:227343060 [GRCh38]
Chr2:228207776 [GRCh37]
Chr2:2q36.3
benign
GRCh37/hg19 2q36.3(chr2:228036577-228481611)x1 copy number loss not provided [RCV000849084] Chr2:228036577..228481611 [GRCh37]
Chr2:2q36.3
uncertain significance
NM_001277062.2(MFF):c.181+30G>A single nucleotide variant not provided [RCV001557224] Chr2:227330876 [GRCh38]
Chr2:228195592 [GRCh37]
Chr2:2q36.3
likely benign
NM_001277062.2(MFF):c.181+201C>T single nucleotide variant not provided [RCV001540371] Chr2:227331047 [GRCh38]
Chr2:228195763 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.744+32C>T single nucleotide variant not provided [RCV001556280] Chr2:227355793 [GRCh38]
Chr2:228220509 [GRCh37]
Chr2:2q36.3
likely benign
null duplication not provided [RCV001671518] Chr2:227329923..227329924 [GRCh38]
Chr2:228194639..228194640 [GRCh37]
Chr2:2q36.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001659344] Chr2:227325286 [GRCh38]
Chr2:228190002 [GRCh37]
Chr2:2q36.3
benign
null single nucleotide variant not provided [RCV001675463] Chr2:227325328 [GRCh38]
Chr2:228190044 [GRCh37]
Chr2:2q36.3
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001714325] Chr2:227325269 [GRCh38]
Chr2:228189985 [GRCh37]
Chr2:2q36.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) duplication not provided [RCV001650117] Chr2:227332148..227332149 [GRCh38]
Chr2:228196864..228196865 [GRCh37]
Chr2:2q36.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant not provided [RCV001686500] Chr2:227355428 [GRCh38]
Chr2:228220144 [GRCh37]
Chr2:2q36.3
benign
null single nucleotide variant not provided [RCV001670451] Chr2:227332652 [GRCh38]
Chr2:228197368 [GRCh37]
Chr2:2q36.3
benign
NM_000371.3(TTR):c.372C>G (p.Arg124=) single nucleotide variant not provided [RCV001698532] Chr2:227352276 [GRCh38]
Chr2:228216992 [GRCh37]
Chr2:2q36.3
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001716233] Chr2:227325435 [GRCh38]
Chr2:228190151 [GRCh37]
Chr2:2q36.3
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del single nucleotide variant not provided [RCV001716235] Chr2:227325204 [GRCh38]
Chr2:228189920 [GRCh37]
Chr2:2q36.3
benign
null single nucleotide variant not provided [RCV001671911] Chr2:227327572 [GRCh38]
Chr2:228192288 [GRCh37]
Chr2:2q36.3
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) microsatellite not provided [RCV001708261] Chr2:227330339..227330346 [GRCh38]
Chr2:228195055..228195062 [GRCh37]
Chr2:2q36.3
benign
NM_032043.3(BRIP1):c.1795-12_1795-10del duplication not provided [RCV001713411] Chr2:227329923..227329924 [GRCh38]
Chr2:228194639..228194640 [GRCh37]
Chr2:2q36.3
benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) insertion not provided [RCV001648342] Chr2:227327507..227327508 [GRCh38]
Chr2:228192223..228192224 [GRCh37]
Chr2:2q36.3
benign
null single nucleotide variant not provided [RCV001667632] Chr2:227342909 [GRCh38]
Chr2:228207625 [GRCh37]
Chr2:2q36.3
benign
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) microsatellite not provided [RCV001679523] Chr2:227340091..227340092 [GRCh38]
Chr2:228204807..228204808 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.612TGG[1] (p.Gly206del) microsatellite Microcephaly [RCV001252782] Chr2:227352525..227352527 [GRCh38]
Chr2:228217241..228217243 [GRCh37]
Chr2:2q36.3
uncertain significance
GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1 copy number loss not provided [RCV001259188] Chr2:226027074..229110812 [GRCh37]
Chr2:2q36.2-36.3
likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3
pathogenic
NM_001277062.2(MFF):c.355C>T (p.Arg119Ter) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001290306] Chr2:227340295 [GRCh38]
Chr2:228205011 [GRCh37]
Chr2:2q36.3
pathogenic
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=) indel not provided [RCV001644960]|not specified [RCV001261630] Chr2:227329764..227329765 [GRCh38]
Chr2:228194480..228194481 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.678A>G (p.Ile226Met) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001336486] Chr2:227355695 [GRCh38]
Chr2:228220411 [GRCh37]
Chr2:2q36.3
uncertain significance
NM_001277062.2(MFF):c.-40-842dup duplication Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001336483] Chr2:227329782..227329783 [GRCh38]
Chr2:228194498..228194499 [GRCh37]
Chr2:2q36.3
pathogenic
NM_001277062.2(MFF):c.351_351+1insATCCGAGCAGT insertion Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001336484] Chr2:227332588..227332589 [GRCh38]
Chr2:228197304..228197305 [GRCh37]
Chr2:2q36.3
pathogenic
NM_001277062.2(MFF):c.440_441insACCT (p.Val148fs) insertion Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001336485] Chr2:227340378..227340379 [GRCh38]
Chr2:228205094..228205095 [GRCh37]
Chr2:2q36.3
pathogenic
NM_001277062.2(MFF):c.749T>G (p.Ile250Ser) single nucleotide variant Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [RCV001331101] Chr2:227356990 [GRCh38]
Chr2:228221706 [GRCh37]
Chr2:2q36.3
uncertain significance
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) single nucleotide variant not provided [RCV001581982] Chr2:227332512 [GRCh38]
Chr2:228197228 [GRCh37]
Chr2:2q36.3
uncertain significance
null deletion not provided [RCV001668678] Chr2:227325535 [GRCh38]
Chr2:228190251 [GRCh37]
Chr2:2q36.3
benign
null single nucleotide variant not provided [RCV001619317] Chr2:227340266 [GRCh38]
Chr2:228204982 [GRCh37]
Chr2:2q36.3
benign
null single nucleotide variant not provided [RCV001673403] Chr2:227357246 [GRCh38]
Chr2:228221962 [GRCh37]
Chr2:2q36.3
benign
NM_001277062.2(MFF):c.660-106A>G single nucleotide variant not provided [RCV001545725] Chr2:227355571 [GRCh38]
Chr2:228220287 [GRCh37]
Chr2:2q36.3
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24858 AgrOrtholog
COSMIC MFF COSMIC
Ensembl Genes ENSG00000168958 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000302037 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000304134 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000304898 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000338412 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000346498 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000375912 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000386641 UniProtKB/Swiss-Prot
  ENSP00000386964 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000390165 UniProtKB/TrEMBL
  ENSP00000391829 UniProtKB/TrEMBL
  ENSP00000407547 UniProtKB/TrEMBL
  ENSP00000411386 UniProtKB/TrEMBL
  ENSP00000415313 UniProtKB/TrEMBL
  ENSP00000415996 UniProtKB/TrEMBL
  ENSP00000431725 UniProtKB/TrEMBL
  ENSP00000432447 UniProtKB/TrEMBL
  ENSP00000435354 UniProtKB/TrEMBL
  ENSP00000436289 UniProtKB/TrEMBL
  ENSP00000436920 UniProtKB/TrEMBL
Ensembl Transcript ENST00000304593 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000337110 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000349901 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000353339 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000354503 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392059 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000409565 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409616 UniProtKB/Swiss-Prot
  ENST00000418961 UniProtKB/TrEMBL
  ENST00000423098 UniProtKB/TrEMBL
  ENST00000436237 UniProtKB/TrEMBL
  ENST00000443428 UniProtKB/TrEMBL
  ENST00000452930 UniProtKB/TrEMBL
  ENST00000456345 UniProtKB/TrEMBL
  ENST00000524634 UniProtKB/TrEMBL
  ENST00000525195 UniProtKB/TrEMBL
  ENST00000530359 UniProtKB/TrEMBL
  ENST00000531278 UniProtKB/TrEMBL
  ENST00000534203 UniProtKB/TrEMBL
GTEx ENSG00000168958 GTEx
HGNC ID HGNC:24858 ENTREZGENE
Human Proteome Map MFF Human Proteome Map
InterPro Mff-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mff/Tango-11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56947 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 56947 ENTREZGENE
OMIM 614785 OMIM
  617086 OMIM
PANTHER PTHR16501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Miff UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162395839 PharmGKB
UniProt A0A024R491 ENTREZGENE
  A0A0A0MS29 ENTREZGENE, UniProtKB/TrEMBL
  A1MAC2_HUMAN UniProtKB/TrEMBL
  C9J846_HUMAN UniProtKB/TrEMBL
  C9JAF1_HUMAN UniProtKB/TrEMBL
  C9JHF5_HUMAN UniProtKB/TrEMBL
  C9JI76_HUMAN UniProtKB/TrEMBL
  C9JU19_HUMAN UniProtKB/TrEMBL
  E9PK16_HUMAN UniProtKB/TrEMBL
  E9PKS0_HUMAN UniProtKB/TrEMBL
  E9PPR7_HUMAN UniProtKB/TrEMBL
  E9PPW6_HUMAN UniProtKB/TrEMBL
  E9PQX8_HUMAN UniProtKB/TrEMBL
  H7C433_HUMAN UniProtKB/TrEMBL
  MFF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q567U1 UniProtKB/Swiss-Prot
  Q658R6 UniProtKB/Swiss-Prot
  Q9BVZ1 UniProtKB/Swiss-Prot
  Q9H690 UniProtKB/Swiss-Prot
  Q9NRG8 UniProtKB/Swiss-Prot