• Gene id: 83636

Gene Summary

• Gene Symbol: C19orf12   Gene   UCSC   Ensembl
• Aliases: MPAN, NBIA3, NBIA4, SPG43
• Gene name: chromosome 19 open reading frame 12
• Alternate names: protein C19orf12, membrane protein-associated neurodegeneration, neurodegeneration with brain iron accumulation 3,
• Gene location: 19q12 (47957904: 47951966)     Exons: 4     NC_000017.11
• Gene summary(Entrez): This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encodin
• OMIM: 614297

Protein Summary

• Protein general information: Q9NSK7  
  • Name: Protein C19orf12
  • Length: 152  
  • Mass: 16286
• Sequence:

  MERLKSHKPATMTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAW
  MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQY
  DD

• Structural information:
  • Interpro: IPR033369  
  • STRING: ENSP00000376103
• Other Databases: GeneCards:  C19orf12  Malacards:  C19orf12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0031966	mitochondrial membrane	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0006914	autophagy	IMP	biological process
GO:0006915	apoptotic process	IMP	biological process
GO:0006979	response to oxidative stress	IMP	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0031966	mitochondrial membrane	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Neurodegeneration with brain iron accumulation	KEGG:H00833
Hereditary spastic paraplegia	KEGG:H00266
Neurodegeneration with brain iron accumulation	KEGG:H00833
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray