KEGG   Homo sapiens (human): 9927
Entry
9927              CDS       T01001                                 
Symbol
MFN2, CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF, MSL
Name
(RefSeq) mitofusin 2
  KO
K06030  mitofusin 2 [EC:3.6.5.-]
Organism
hsa  Homo sapiens (human)
Pathway
hsa04137  Mitophagy - animal
hsa04621  NOD-like receptor signaling pathway
hsa05012  Parkinson disease
hsa05022  Pathways of neurodegeneration - multiple diseases
Network
nt06463  Parkinson disease
nt06466  Pathways of neurodegeneration
nt06536  Mitophagy
  Element
N01052  PINK1-Parkin-mediated MFN2 degradation
N01053  Mutation-inactivated PINK1 to PINK1-Parkin-mediated MFN2 degradation
N01054  Mutation-inactivated PRKN to PINK1-Parkin-mediated MFN2 degradation
N01756  PINK-Parkin-independent ubiquitin-mediated mitophagy
N01759  INK1-Parkin-mediated MFN2 degradation, VCP-OPA1
Disease
H00264  Charcot-Marie-Tooth disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09141 Transport and catabolism
   04137 Mitophagy - animal
    9927 (MFN2)
 09150 Organismal Systems
  09151 Immune system
   04621 NOD-like receptor signaling pathway
    9927 (MFN2)
 09160 Human Diseases
  09164 Neurodegenerative disease
   05012 Parkinson disease
    9927 (MFN2)
   05022 Pathways of neurodegeneration - multiple diseases
    9927 (MFN2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   04131 Membrane trafficking [BR:hsa04131]
    9927 (MFN2)
   03029 Mitochondrial biogenesis [BR:hsa03029]
    9927 (MFN2)
Membrane trafficking [BR:hsa04131]
 Autophagy
  Mitophagy
   PINK1-Parkin associated proteins
    9927 (MFN2)
  Other autophagy associated proteins
   ER-mitochondria tethering complex
    9927 (MFN2)
Mitochondrial biogenesis [BR:hsa03029]
 Mitochondrial quality control factors
  Mitochondrial dynamics
   Fission and Fusion factors
    9927 (MFN2)
SSDB
Motif
Pfam: Fzo_mitofusin Dynamin_N MMR_HSR1 GTP_EFTU Synaptobrevin
Other DBs
NCBI-GeneID: 9927
NCBI-ProteinID: NP_001121132
OMIM: 608507
HGNC: 16877
Ensembl: ENSG00000116688
UniProt: O95140
Structure
Position
1:11980444..12013508
AA seq 757 aa
MSLLFSRCNSIVTVKKNKRHMAEVNASPLKHFVTAKKKINGIFEQLGAYIQESATFLEDT
YRNAELDPVTTEEQVLDVKGYLSKVRGISEVLARRHMKVAFFGRTSNGKSTVINAMLWDK
VLPSGIGHTTNCFLRVEGTDGHEAFLLTEGSEEKRSAKTVNQLAHALHQDKQLHAGSLVS
VMWPNSKCPLLKDDLVLMDSPGIDVTTELDSWIDKFCLDADVFVLVANSESTLMQTEKHF
FHKVSERLSRPNIFILNNRWDASASEPEYMEEVRRQHMERCTSFLVDELGVVDRSQAGDR
IFFVSAKEVLNARIQKAQGMPEGGGALAEGFQVRMFEFQNFERRFEECISQSAVKTKFEQ
HTVRAKQIAEAVRLIMDSLHMAAREQQVYCEEMREERQDRLKFIDKQLELLAQDYKLRIK
QITEEVERQVSTAMAEEIRRLSVLVDDYQMDFHPSPVVLKVYKNELHRHIEEGLGRNMSD
RCSTAITNSLQTMQQDMIDGLKPLLPVSVRSQIDMLVPRQCFSLNYDLNCDKLCADFQED
IEFHFSLGWTMLVNRFLGPKNSRRALMGYNDQVQRPIPLTPANPSMPPLPQGSLTQEEFM
VSMVTGLASLTSRTSMGILVVGGVVWKAVGWRLIALSFGLYGLLYVYERLTWTTKAKERA
FKRQFVEHASEKLQLVISYTGSNCSHQVQQELSGTFAHLCQQVDVTRENLEQEIAAMNKK
IEVLDSLQSKAKLLRNKAGWLDSELNMFTHQYLQPSR
NT seq 2274 nt   +upstreamnt  +downstreamnt
atgtccctgctcttctctcgatgcaactctatcgtcacagtcaagaaaaataagagacac
atggctgaggtgaatgcatccccacttaagcactttgtcactgccaagaagaagatcaat
ggcatttttgagcagctgggggcctacatccaggagagcgccaccttccttgaagacacg
tacaggaatgcagaactggaccccgttaccacagaagaacaggttctggacgtcaaaggt
tacctatccaaagtgagaggcatcagtgaggtgctggctcggaggcacatgaaagtggct
ttttttggccggacgagcaatgggaagagcaccgtgatcaatgccatgctctgggacaaa
gttctgccctctgggattggccacaccaccaattgcttcctgcgggtagagggcacagat
ggccatgaggcctttctccttaccgagggctcagaggaaaagaggagtgccaagactgtg
aaccagctggcccatgccctccaccaggacaagcagctccatgccggcagcctagtgagt
gtgatgtggcccaactctaagtgcccacttctgaaggatgacctcgttttgatggacagc
cctggtattgatgtcaccacagagctggacagctggattgacaagttttgtctggatgct
gatgtgtttgtgctggtggccaactcagagtccaccctgatgcagacggaaaagcacttc
ttccacaaggtgagtgagcgtctctcccggccaaacatcttcatcctgaacaaccgctgg
gatgcatctgcctcagagcccgagtacatggaggaggtgcggcggcagcacatggagcgt
tgtaccagcttcctggtggatgagctgggcgtggtggatcgatcccaggccggggaccgc
atcttctttgtgtctgctaaggaggtgctcaacgccaggattcagaaagcccagggcatg
cctgaaggagggggcgctctcgcagaaggctttcaagtgaggatgtttgagtttcagaat
tttgagaggagatttgaggagtgcatctcccagtctgcagtgaagaccaagtttgagcag
cacacggtccgggccaagcagattgcagaggcggttcgactcatcatggactccctgcac
atggcggctcgggagcagcaggtttactgcgaggaaatgcgtgaagagcggcaagaccga
ctgaaatttattgacaaacagctggagctcttggctcaagactataagctgcgaattaag
cagattacggaggaagtggagaggcaggtgtcgactgcaatggccgaggagatcaggcgc
ctctctgtactggtggacgattaccagatggacttccacccttctccagtagtcctcaag
gtttataagaatgagctgcaccgccacatagaggaaggactgggtcgaaacatgtctgac
cgctgctccacggccatcaccaactccctgcagaccatgcagcaggacatgatagatggc
ttgaaacccctccttcctgtgtctgtgcggagtcagatagacatgctggtcccacgccag
tgcttctccctcaactatgacctaaactgtgacaagctgtgtgctgacttccaggaagac
attgagttccatttctctctcggatggaccatgctggtgaataggttcctgggccccaag
aacagccgtcgggccttgatgggctacaatgaccaggtccagcgtcccatccctctgacg
ccagccaaccccagcatgcccccactgccacagggctcgctcacccaggaggagttcatg
gtttccatggttaccggcctggcctccttgacatccaggacctccatgggcattcttgtt
gttggaggagtggtgtggaaggcagtgggctggcggctcattgccctctcctttgggctc
tatggcctcctctacgtctatgagcgtctgacctggaccaccaaggccaaggagagggcc
ttcaagcgccagtttgtggagcatgccagcgagaagctgcagcttgtcatcagctacact
ggctccaactgcagccaccaagtccagcaggaactgtctgggacctttgctcatctgtgt
cagcaagttgacgtcacccgggagaacctggagcaggaaattgccgccatgaacaagaaa
attgaggttcttgactcacttcagagcaaagcaaagctgctcaggaataaagccggttgg
ttggacagtgagctcaacatgttcacacaccagtacctgcagcccagcagatag

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (4)   
   KEGG PATHWAY (4)   
Network (8)   
   KEGG NETWORK (8)   
Disease (6)   
   KEGG DISEASE (1)   
   OMIM (5)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (8)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
Protein sequence (16)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (14)   
DNA sequence (42)   
   RefSeq(nuc) (14)   
   GenBank (14)   
   EMBL (14)   
3D Structure (3)   
   PDB (3)   
Protein domain (5)   
   Pfam (5)   
All databases (104)   

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