C19orf12 (chromosome 19 open reading frame 12)

2014-11-01  

Identity

HGNC
LOCATION
19q12
LOCUSID
ALIAS
MPAN,NBIA3,NBIA4,SPG43

Other Information

Locus ID:

NCBI: 83636
MIM: 614297
HGNC: 25443
Ensembl: ENSG00000131943

Variants:

dbSNP: 83636
ClinVar: 83636
TCGA: ENSG00000131943
COSMIC: C19orf12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131943ENST00000323670Q9NSK7
ENSG00000131943ENST00000342680F8W6J3
ENSG00000131943ENST00000392276Q9NSK7
ENSG00000131943ENST00000392278Q9NSK7
ENSG00000131943ENST00000591243K7EPS8
ENSG00000131943ENST00000592153Q9NSK7
ENSG00000131943ENST00000614091Q9NSK7
ENSG00000131943ENST00000623113Q9NSK7

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
219817802011Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.49
238579082013Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.22
225849502012C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis.15
226917602012Neurodegeneration with brain iron accumulation.15
256684762015Mitochondria: A crossroads for lipid metabolism defect in neurodegeneration with brain iron accumulation diseases.12
293256182018Neurodegeneration with brain iron accumulation.12
227042602012C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.9
231660012013PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.9
259625512015C19orf12 gene mutations in patients with neurodegeneration with brain iron accumulation.4
234949942013Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.3

Citation

Dessen P

C19orf12 (chromosome 19 open reading frame 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61021/c19orf12