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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 encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
C19orf12 (Chromosome 19 Open Reading Frame 12) is a Protein Coding gene. Diseases associated with C19orf12 include Spastic Paraplegia 43, Autosomal Recessive and Neurodegeneration With Brain Iron Accumulation 4.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IEA,IDA | 23857908 |
GO:0005783 | endoplasmic reticulum | IEA,IDA | 23857908 |
GO:0005829 | cytosol | IEA,IDA | -- |
GO:0016020 | membrane | IEA | -- |
Symbol | External ID(s) | Details |
---|---|---|
IKBKG | ||
APP | ||
C8orf44-SGK3 | ||
KIF16B | ||
PXK |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006914 | autophagy | IMP | 26136767 |
GO:0006915 | apoptotic process | IMP | 26136767 |
GO:0006979 | response to oxidative stress | IMP | 26136767 |
GO:0051560 | mitochondrial calcium ion homeostasis | IMP | 26136767 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||
SP3: | - | - | |||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C19H19orf12 30 |
|
||
C19orf12 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany | |
C18H19orf12 30 |
|
||||
-- 31 |
|
OneToMany | |||
Dog (Canis familiaris) |
Mammalia | C1H19orf12 30 |
|
||
C19orf12 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | LOC690000 30 |
|
||
Mouse (Mus musculus) |
Mammalia | 1600014C10Rik 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C19orf12 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C19orf12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C11H19ORF12 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | c19orf12 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | C18H19orf12 (1 of 3) 31 |
|
OneToMany | |
LOC100537173 30 |
|
||||
C7H19orf12 (3 of 3) 31 |
|
OneToMany | |||
C7H19orf12 (2 of 3) 31 |
|
OneToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4992 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000432 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG3740 30 31 |
|
OneToMany | |
CG11671 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1208 31 |
|
OneToMany | |
-- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636274 | Pathogenic: Neurodegeneration with brain iron accumulation 4 | 29,702,904(-) | CAT/C | FRAMESHIFT_VARIANT | |
636275 | Pathogenic: Neurodegeneration with brain iron accumulation 4 | 29,702,933(-) | GTCCACTTGTCA/G | INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT | |
642357 | Uncertain Significance: Spastic paraplegia 43, autosomal recessive | 29,714,902(-) | C/T | INTRON_VARIANT | |
661004 | Uncertain Significance: Spastic paraplegia 43, autosomal recessive | 29,702,861(-) | C/T | MISSENSE_VARIANT | |
676100 | Benign: not provided | 29,708,147(-) | G/A | INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
nsv1061174 | CNV | gain | 25217958 |
nsv1061604 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 43, autosomal recessive |
|
|
neurodegeneration with brain iron accumulation 4 |
|
|
tremor |
|
|
dystonia |
|
|
hereditary spastic paraplegia |
|
|