Q9GZY8
PR
Gene name |
MFF (C2orf33, AD030, AD033, GL004) |
Protein name |
Mitochondrial fission factor |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56947 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9GZY8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9GZY8-F1 | Predicted | AlphaFoldDB |
296 variants for Q9GZY8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000239691 rs886037862 |
62 | L>missing | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000033052 CA130605 RCV000162157 rs397514615 |
64 | Q>* | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 Mitochondrial encephalomyopathy [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000656526 rs1285225437 |
121 | T>missing | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000785004 rs1414317381 CA350869995 |
139 | P>T | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2075318017 RCV001290306 |
145 | R>* | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239645 rs879255690 |
153 | E>missing | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001252782 rs777451654 |
257 | G>missing | Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs756607883 RCV001336486 CA2148047 |
277 | I>M | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000239619 CA2148063 rs753829320 |
298 | R>* | Variant assessed as Somatic; impact. Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
rs1278600625 RCV001331101 CA350857023 |
301 | I>S | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001331859 rs2076297587 |
337 | W>R | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753001188 CA66638523 |
2 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1229593313 CA350868955 |
2 | S>R | No |
ClinGen gnomAD |
|
|
CA350868967 rs1166901798 |
4 | G>* | No |
ClinGen gnomAD |
|
|
CA2147723 rs145010660 |
4 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1315967848 CA350868971 |
5 | T>A | No |
ClinGen gnomAD |
|
|
rs1215438566 CA350868975 |
5 | T>I | No |
ClinGen gnomAD |
|
|
rs1215438566 CA350868974 |
5 | T>R | No |
ClinGen gnomAD |
|
|
RCV000437096 VAR_053915 CA2147725 rs3211097 |
7 | S>C | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001261630 RCV001644960 CA66638547 rs386655869 |
7 | S>F | No |
ClinGen Ensembl ClinVar dbSNP |
|
|
RCV000419895 VAR_053916 rs3211098 CA2147726 |
7 | S>I | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs78872053 CA2147728 |
8 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2147735 rs1173382920 |
13 | R>K | No |
ClinGen TOPMed |
|
|
CA2147736 rs1173382920 |
13 | R>T | No |
ClinGen TOPMed |
|
|
CA2147773 rs569465506 |
16 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350869076 rs1403329323 |
20 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 20 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756405343 CA2147774 |
21 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs766903801 CA2147775 |
22 | P>S | No |
ClinGen ExAC gnomAD |
|
| VAR_036028 | 29 | E>K | a colorectal cancer sample; somatic mutation [UniProt] | No | UniProt |
|
rs1458394939 CA350869151 |
31 | S>T | No |
ClinGen gnomAD |
|
|
rs1574890929 CA350869156 COSM1405973 |
32 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM1017378 rs754521898 CA2147777 |
32 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 34 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350869178 rs369491046 |
35 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200132653 CA2147779 |
35 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2147778 rs778389102 |
35 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA350869180 rs1418789928 |
36 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777221763 CA2147781 |
37 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA350869191 rs1463605772 |
37 | M>K | No |
ClinGen gnomAD |
|
|
CA350869199 rs1400502093 |
38 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350869201 rs1400502093 |
38 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1439736657 CA350869213 |
40 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350869216 rs1323264214 COSM3407634 |
40 | T>S | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1439119330 CA350869222 |
41 | E>G | No |
ClinGen gnomAD |
|
|
rs746849523 CA2147782 |
43 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2147783 rs770796779 |
44 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2147784 rs776754008 |
46 | R>* | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2147785 rs373709042 |
46 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350869268 rs1318818360 |
48 | R>T | No |
ClinGen gnomAD |
|
|
CA2147786 rs768927810 |
49 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA350869272 rs1213264776 |
49 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2147787 rs182099421 |
51 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1241384523 CA350869338 |
55 | V>A | No |
ClinGen gnomAD |
|
|
CA2147788 rs149692814 |
57 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766707640 CA2147792 |
60 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2147791 rs761050481 |
60 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766707640 CA350869385 |
60 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1407366672 CA350869387 |
61 | D>N | No |
ClinGen gnomAD |
|
|
rs1314771949 CA350869410 |
63 | E>Q | No |
ClinGen gnomAD |
|
|
rs755463159 CA2147795 |
64 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2147796 rs201993285 |
65 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs752254842 CA350869481 |
69 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752254842 CA350869479 CA2147798 |
69 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2147799 rs757803989 |
71 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1487245628 CA350869517 |
72 | N>K | No |
ClinGen gnomAD |
|
|
CA350869545 rs1352655321 |
75 | V>A | No |
ClinGen TOPMed |
|
|
CA2147801 rs751229990 |
76 | I>M | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA2147802 rs138259047 |
78 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA |
|
CA350869570 rs1474590818 |
78 | Q>K | No |
ClinGen gnomAD |
|
|
CA350869583 rs1369779549 |
79 | V>I | No |
ClinGen gnomAD |
|
|
CA2147803 rs781133574 |
80 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs769868162 CA2147805 |
83 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1418304392 CA350869637 |
84 | V>A | No |
ClinGen gnomAD |
|
|
rs748292502 CA2147807 |
85 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748292502 CA350869640 |
85 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2147840 rs763369920 |
89 | N>K | No |
ClinGen ExAC |
|
|
rs1251734930 CA350869699 |
90 | E>D | No |
ClinGen gnomAD |
|
|
rs1433009568 CA350869704 |
91 | D>G | No |
ClinGen gnomAD |
|
|
rs763723091 CA2147841 |
93 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1174550579 CA350869715 |
93 | S>P | No |
ClinGen gnomAD |
|
|
CA2147842 rs751129916 |
94 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1466615368 CA350869720 |
94 | F>L | No |
ClinGen gnomAD |
|
|
CA66640214 rs1027457073 |
95 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350869727 rs1027457073 |
95 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2147846 rs370366430 |
97 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs137983579 CA2147845 |
97 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755986724 CA2147847 |
98 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2147848 rs766057611 |
99 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs143374639 CA2147850 |
101 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143374639 CA350869763 |
101 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2147849 rs375098500 |
101 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2147851 rs778753054 |
102 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66640244 rs778753054 |
102 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2147852 rs747121481 |
103 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350869780 rs1319516798 |
104 | Q>R | No |
ClinGen gnomAD |
|
|
rs1488352364 CA350869795 |
106 | T>I | No |
ClinGen gnomAD |
|
|
CA350869790 rs1264543352 |
106 | T>P | No |
ClinGen gnomAD |
|
|
rs1189910835 CA350869800 |
107 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 107 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559951663 CA350869796 |
107 | P>T | No |
ClinGen Ensembl |
|
| TCGA novel | 111 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350869832 rs1279331421 |
112 | A>E | No |
ClinGen TOPMed |
|
|
rs770256523 CA2147856 |
118 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs368093027 CA2147857 |
118 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA66640278 rs1020253719 |
119 | V>L | No |
ClinGen Ensembl |
|
|
rs200360134 CA350869884 |
121 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200360134 CA2147860 |
121 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200360134 CA2147861 |
121 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350869892 rs1450555364 |
123 | S>C | No |
ClinGen TOPMed |
|
|
CA2147863 rs773039712 |
123 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs760240487 CA2147864 |
126 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350869944 rs1368155171 |
131 | D>H | No |
ClinGen gnomAD |
|
|
CA2147865 rs765998178 |
134 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350869991 rs879067921 |
138 | T>A | No |
ClinGen gnomAD |
|
|
rs879067921 CA66640300 |
138 | T>S | No |
ClinGen gnomAD |
|
|
CA350869996 rs1414317381 |
139 | P>S | No |
ClinGen TOPMed |
|
|
rs756803135 CA2147882 |
145 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66595345 rs990111189 |
147 | V>A | No |
ClinGen Ensembl |
|
|
CA2147884 rs776296134 |
148 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1237010739 CA350848060 |
148 | G>S | No |
ClinGen gnomAD |
|
|
rs1183795449 CA350848076 |
150 | L>I | No |
ClinGen gnomAD |
|
|
CA350848079 rs1574942522 |
150 | L>Q | No |
ClinGen Ensembl |
|
|
rs910562640 CA66595355 |
151 | K>R | No |
ClinGen Ensembl |
|
|
CA2147887 rs140493973 |
154 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2147886 rs548889465 |
154 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763965158 CA2147891 |
156 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs762861101 CA2147890 |
156 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144347187 CA2147892 |
158 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2147893 rs756181523 |
160 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs145143758 CA2147894 |
161 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000203122 COSM170118 CA249322 rs201498602 |
162 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201498602 CA2147895 |
162 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748723518 CA2147897 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748723518 CA350848256 |
162 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201498602 CA2147896 |
162 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2147898 rs772710187 |
163 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778302280 CA2147899 |
163 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA66595393 rs138955921 |
166 | Q>L | No |
ClinGen ESP |
|
|
CA350848374 rs1278598703 |
169 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA66595397 rs995212395 |
169 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA350848385 rs995212395 |
169 | R>T | No |
ClinGen TOPMed |
|
|
CA350848432 rs1212420362 |
171 | D>E | No |
ClinGen gnomAD |
|
|
rs746521498 CA2147900 |
171 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2147901 rs770450779 |
172 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs939435641 CA66597224 |
174 | W>L | No |
ClinGen Ensembl |
|
|
rs759646757 CA2147932 |
176 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1284536592 CA350849595 |
178 | D>H | No |
ClinGen gnomAD |
|
|
rs1339914292 CA350849600 |
178 | D>V | No |
ClinGen gnomAD |
|
|
rs1284536592 CA350849596 |
178 | D>Y | No |
ClinGen gnomAD |
|
|
CA350849857 rs1252427922 |
190 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2147935 rs752944748 |
190 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA350849870 rs1208966544 |
191 | P>L | No |
ClinGen gnomAD |
|
|
CA2147937 rs764512060 |
192 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA66597280 rs11675936 |
193 | S>F | No |
ClinGen Ensembl |
|
|
rs1223109408 CA350849906 |
194 | A>T | No |
ClinGen gnomAD |
|
|
CA66597288 rs763899321 |
194 | A>V | No |
ClinGen Ensembl |
|
|
rs368588231 CA66597296 |
195 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2147938 rs752060091 |
195 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA66597303 rs752060091 |
195 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350849939 rs1334838296 |
196 | E>* | No |
ClinGen TOPMed |
|
|
CA350849943 rs1195223121 |
196 | E>A | No |
ClinGen gnomAD |
|
|
CA2147940 rs201492539 |
198 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350851224 rs1418440279 |
199 | V>M | No |
ClinGen gnomAD |
|
|
rs779535716 CA2147961 |
200 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2147962 rs748998293 |
202 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350851406 rs1353340184 |
206 | A>S | No |
ClinGen TOPMed |
|
|
rs771739880 CA2147967 |
207 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs771739880 CA2147966 |
207 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2147965 rs369604240 |
207 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746938741 CA2147968 |
208 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350851443 rs746938741 |
208 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350851497 rs1261297377 |
210 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs770052695 CA2147969 |
210 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983076035 CA66599855 |
211 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 213 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775833193 CA350851541 |
213 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs775833193 CA66599859 |
213 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM442425 rs908899939 CA66599864 |
216 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA2147970 rs775720704 |
217 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2147971 rs762872336 |
218 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1163834376 CA350851660 |
219 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 219 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774390039 CA350851729 |
222 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774390039 CA2147973 |
222 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 224 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143519703 CA66599894 |
224 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2147975 rs762289133 |
225 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2147974 rs762289133 |
225 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535111295 CA2147976 |
225 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2147977 rs761158322 |
229 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867648347 CA66599925 |
232 | Q>* | No |
ClinGen Ensembl |
|
|
CA2147980 rs139205805 |
236 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA66599926 rs778674150 |
236 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778674150 CA2147981 |
236 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350852078 rs1374363178 |
237 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350852188 rs1307534740 |
240 | Q>* | No |
ClinGen gnomAD |
|
|
rs1330458969 CA350852224 |
240 | Q>R | No |
ClinGen gnomAD |
|
|
rs758278774 CA2147983 |
241 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2147984 rs200608831 |
241 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs995227339 CA66599944 |
245 | V>M | No |
ClinGen TOPMed |
|
|
rs1197595965 CA350852411 |
246 | L>M | No |
ClinGen gnomAD |
|
|
rs1479861445 CA350852514 |
249 | N>H | No |
ClinGen gnomAD |
|
|
COSM282778 CA350852533 rs1179323728 |
250 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs770994655 CA2147986 |
250 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770994655 CA2147987 |
250 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs144276627 CA2147988 |
251 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199807950 CA2148009 |
255 | R>C | No |
ClinGen TOPMed |
|
|
rs376507486 CA2148011 |
255 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480417868 CA350854186 |
256 | G>C | No |
ClinGen TOPMed |
|
|
CA2148012 rs772287325 |
257 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs773385050 CA2148013 |
259 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1214963 rs771252747 CA2148015 |
261 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2148017 rs759946009 |
262 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2148018 rs765713755 |
262 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350854340 rs759946009 |
262 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774863054 CA2148019 |
263 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2148020 rs762509385 |
264 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763857831 CA2148021 |
265 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763857831 CA350854392 |
265 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1259798870 CA350854382 |
265 | P>S | No |
ClinGen TOPMed |
|
|
rs751237924 CA2148022 |
266 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2148023 rs757161361 |
267 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2148024 rs767216065 |
267 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs951534982 COSM1733948 CA66603906 |
270 | V>I | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs951534982 CA350854486 |
270 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA66605988 rs545044051 |
272 | Y>C | No |
ClinGen Ensembl |
|
|
rs899746608 CA66606008 |
273 | G>V | No |
ClinGen Ensembl |
|
|
CA2148045 rs549553723 |
274 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA2148046 rs377263177 |
276 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350856308 rs1400722264 |
277 | I>T | No |
ClinGen gnomAD |
|
|
CA66606034 rs996745912 |
277 | I>V | No |
ClinGen Ensembl |
|
|
CA2148048 rs151315304 |
279 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470732099 CA350856363 |
279 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1470732099 CA350856360 |
279 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA350856371 rs1383969531 |
280 | T>A | No |
ClinGen gnomAD |
|
|
CA2148052 rs145321987 |
281 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781432504 CA2148051 |
281 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770170605 CA2148053 |
283 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754307487 CA2148054 |
284 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370817463 CA66606078 |
284 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs1408224561 CA350856546 |
288 | L>Q | No |
ClinGen TOPMed |
|
|
CA350856542 rs1264055139 |
288 | L>V | No |
ClinGen gnomAD |
|
|
CA350856577 rs1234482619 |
290 | V>A | No |
ClinGen gnomAD |
|
|
CA2148057 rs774016693 |
290 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2148059 rs771654144 |
291 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2148058 rs191608569 |
291 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2148060 rs772874019 |
292 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2148061 rs760438395 |
293 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2148064 rs759482426 |
298 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2148092 rs538744132 |
301 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350857031 rs1222533772 |
302 | K>Q | No |
ClinGen gnomAD |
|
|
CA350857081 rs1194864657 |
304 | N>Y | No |
ClinGen gnomAD |
|
|
CA2148094 rs141775901 |
306 | R>H | Variant assessed as Somatic; 0.0004165 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2148096 rs575708601 |
308 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350857346 rs1314690385 |
312 | E>G | No |
ClinGen gnomAD |
|
|
rs200797272 CA66607035 |
312 | E>K | No |
ClinGen Ensembl |
|
|
rs140081853 CA2148097 |
313 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350857419 rs1164824617 |
314 | N>S | No |
ClinGen gnomAD |
|
|
rs1227761184 CA350857438 |
315 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs201764890 CA66607048 |
316 | E>Q | No |
ClinGen Ensembl |
|
|
rs919820297 CA350857494 |
317 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs919820297 CA66607049 |
317 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2148098 rs770601001 |
318 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1575014045 CA350857562 |
318 | A>V | No |
ClinGen Ensembl |
|
|
CA350857614 rs1327260927 |
320 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 321 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66607062 rs2708 |
321 | E>G | No |
ClinGen Ensembl |
|
|
rs745708043 CA2148100 |
322 | M>V | No |
ClinGen ExAC |
|
|
CA2148101 rs769543742 |
323 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 323 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350857690 rs769543742 |
323 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2148104 rs148514577 CA2148103 CA66607070 |
324 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2148102 rs77529562 |
324 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1312688256 CA350857718 |
324 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs115231400 CA2148105 |
325 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA66607077 rs14579 |
326 | S>T | No |
ClinGen Ensembl |
|
|
rs1347922791 CA350857846 |
327 | I>V | No |
ClinGen gnomAD |
|
|
CA2148106 rs760635029 |
328 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1284453795 CA350857898 |
329 | V>I | No |
ClinGen gnomAD |
|
|
CA66607082 rs960566048 |
331 | F>C | No |
ClinGen TOPMed |
|
|
CA66607086 rs113067225 |
338 | L>P | No |
ClinGen Ensembl |
|
|
CA350858304 rs374804976 |
341 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA66607087 rs374804976 |
341 | R>G | No |
ClinGen ESP |
|
|
CA2148107 rs62190918 |
341 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA66607088 rs62190918 |
341 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA66607096 rs748018831 COSM1017387 |
342 | R>C | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA2148110 COSM3047399 rs373848527 |
342 | R>H | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745758158 CA2148109 |
342 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160392697 CA350858371 |
343 | R>L | No |
ClinGen gnomAD |
1 associated diseases with Q9GZY8
[MIM: 617086]: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 (EMPF2)
An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. {ECO:0000269|PubMed:26783368}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy. {ECO:0000269|PubMed:26783368}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q9GZY8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9GZY8 | |||
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| integral component of mitochondrial membrane | The component of the mitochondrial membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of mitochondrial outer membrane | The component of the mitochondrial outer membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| mitochondrial outer membrane | The outer, i.e. cytoplasm-facing, lipid bilayer of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| peroxisome | A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| synaptic vesicle | A secretory organelle, typically 50 nm in diameter, of presynaptic nerve terminals; accumulates in high concentrations of neurotransmitters and secretes these into the synaptic cleft by fusion with the 'active zone' of the presynaptic plasma membrane. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| mitochondrial fission | The division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
| mitochondrial fragmentation involved in apoptotic process | The change in the morphology of the mitochondria in an apoptotic cell from a highly branched network to a fragmented vesicular form. |
| mitochondrial fusion | Merging of two or more mitochondria within a cell to form a single compartment. |
| mitochondrion morphogenesis | The process in which the anatomical structures of a mitochondrion are generated and organized. |
| peroxisome fission | The division of a mature peroxisome within a cell to form two or more separate peroxisome compartments. |
| positive regulation of mitochondrial fission | Any process that increases the rate, frequency or extent of mitochondrial fission. Mitochondrial fission is the division of a mitochondrion within a cell to form two or more separate mitochondrial compartments. |
| positive regulation of protein targeting to membrane | Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein. |
| positive regulation of release of cytochrome c from mitochondria | Any process that increases the rate, frequency or extent of release of cytochrome c from mitochondria, the process in which cytochrome c is enabled to move from the mitochondrial intermembrane space into the cytosol, which is an early step in apoptosis and leads to caspase activation. |
| protein targeting to mitochondrion | The process of directing proteins towards and into the mitochondrion, usually mediated by mitochondrial proteins that recognize signals contained within the imported protein. |
| regulation of mitochondrion organization | Any process that modulates the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. |
| regulation of peroxisome organization | Any process that modulates the frequency, rate or extent of peroxisome organization. |
| release of cytochrome c from mitochondria | The process that results in the movement of cytochrome c from the mitochondrial intermembrane space into the cytosol, which is part of the apoptotic signaling pathway and leads to caspase activation. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6PCP5 | Mff | Mitochondrial fission factor | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSKGTSSDTS | LGRVSRAAFP | SPTAAEMAEI | SRIQYEMEYT | EGISQRMRVP | EKLKVAPPNA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLEQGFQEGV | PNASVIMQVP | ERIVVAGNNE | DVSFSRPADL | DLIQSTPFKP | LALKTPPRVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TLSERPLDFL | DLERPPTTPQ | NEEIRAVGRL | KRERSMSENA | VRQNGQLVRN | DSLWHRSDSA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PRNKISRFQA | PISAPEYTVT | PSPQQARVCP | PHMLPEDGAN | LSSARGILSL | IQSSTRRAYQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QILDVLDENR | RPVLRGGSAA | ATSNPHHDNV | RYGISNIDTT | IEGTSDDLTV | VDAASLRRQI |
| 310 | 320 | 330 | 340 | ||
| IKLNRRLQLL | EEENKERAKR | EMVMYSITVA | FWLLNSWLWF | RR |