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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
2
Cytoband
q36.3
Chromosome location (bp)
227325151 - 227357833
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Plays a role in mitochondrial and peroxisomal fission 1,2,3. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface 4. May be involved in regulation of synaptic vesicle membrane dynamics by recruitment of DNM1L to clathrin-containing vesicles (By similarity)....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
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GO:0000266[mitochondrial fission] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006626[protein targeting to mitochondrion] GO:0008021[synaptic vesicle] GO:0008053[mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016559[peroxisome fission] GO:0031410[cytoplasmic vesicle] GO:0031966[mitochondrial membrane] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045202[synapse] GO:0070584[mitochondrion morphogenesis] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090314[positive regulation of protein targeting to membrane] GO:1900063[regulation of peroxisome organization]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000266[mitochondrial fission] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006626[protein targeting to mitochondrion] GO:0008021[synaptic vesicle] GO:0008053[mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016559[peroxisome fission] GO:0031410[cytoplasmic vesicle] GO:0031966[mitochondrial membrane] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045202[synapse] GO:0070584[mitochondrion morphogenesis] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090314[positive regulation of protein targeting to membrane] GO:1900063[regulation of peroxisome organization]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000266[mitochondrial fission] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006626[protein targeting to mitochondrion] GO:0008021[synaptic vesicle] GO:0008053[mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016559[peroxisome fission] GO:0031410[cytoplasmic vesicle] GO:0031966[mitochondrial membrane] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045202[synapse] GO:0070584[mitochondrion morphogenesis] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090314[positive regulation of protein targeting to membrane] GO:1900063[regulation of peroxisome organization]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000266[mitochondrial fission] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006626[protein targeting to mitochondrion] GO:0008021[synaptic vesicle] GO:0008053[mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016559[peroxisome fission] GO:0031410[cytoplasmic vesicle] GO:0031966[mitochondrial membrane] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045202[synapse] GO:0070584[mitochondrion morphogenesis] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090314[positive regulation of protein targeting to membrane] GO:1900063[regulation of peroxisome organization]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000266[mitochondrial fission] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006626[protein targeting to mitochondrion] GO:0008021[synaptic vesicle] GO:0008053[mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016559[peroxisome fission] GO:0031410[cytoplasmic vesicle] GO:0031966[mitochondrial membrane] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045202[synapse] GO:0070584[mitochondrion morphogenesis] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090314[positive regulation of protein targeting to membrane] GO:1900063[regulation of peroxisome organization]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000266[mitochondrial fission] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006626[protein targeting to mitochondrion] GO:0008021[synaptic vesicle] GO:0008053[mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016559[peroxisome fission] GO:0031410[cytoplasmic vesicle] GO:0031966[mitochondrial membrane] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045202[synapse] GO:0070584[mitochondrion morphogenesis] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090314[positive regulation of protein targeting to membrane] GO:1900063[regulation of peroxisome organization]
Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 1TM proteins predicted by MDM Disease related genes Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014) DeepTMHMM predicted membrane proteins
Show all
GO:0000266[mitochondrial fission] GO:0001836[release of cytochrome c from mitochondria] GO:0005515[protein binding] GO:0005739[mitochondrion] GO:0005741[mitochondrial outer membrane] GO:0005777[peroxisome] GO:0006626[protein targeting to mitochondrion] GO:0008021[synaptic vesicle] GO:0008053[mitochondrial fusion] GO:0010821[regulation of mitochondrion organization] GO:0016020[membrane] GO:0016559[peroxisome fission] GO:0031410[cytoplasmic vesicle] GO:0031966[mitochondrial membrane] GO:0032991[protein-containing complex] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043653[mitochondrial fragmentation involved in apoptotic process] GO:0045202[synapse] GO:0070584[mitochondrion morphogenesis] GO:0090141[positive regulation of mitochondrial fission] GO:0090200[positive regulation of release of cytochrome c from mitochondria] GO:0090314[positive regulation of protein targeting to membrane] GO:1900063[regulation of peroxisome organization]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Mitochondrial diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
