InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: C19orf12

Summary

InnateDB Protein

IDBP-41807.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

C19orf12

Protein Name

chromosome 19 open reading frame 12

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000313332

InnateDB Gene

IDBG-41803 (C19orf12)

Protein Structure

UniProt Annotation

Function

Subcellular Localization

Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum membrane; Single-pass membrane protein.

Disease Associations

Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. NBIA4 results in speech difficulty, extrapyramidal signs, oromandibular and generalized dystonia, and parkinsonism. Most patients have progressive involvement of the corticospinal tract, with spasticity, hyperreflexia, and extensor plantar responses. {ECO:0000269PubMed:21981780, ECO:0000269PubMed:22508347, ECO:0000269PubMed:22584950, ECO:0000269PubMed:23269600, ECO:0000269PubMed:23521069, ECO:0000269PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SP43 is characterized by childhood onset of progressive spasticity affecting the lower and upper limbs. {ECO:0000269PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	3 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0008219

cell death

Cellular Component

GO:0005739	mitochondrion
GO:0005783	endoplasmic reticulum
GO:0005789	endoplasmic reticulum membrane
GO:0016021	integral component of membrane
GO:0031966	mitochondrial membrane