C19orf12 chromosome 19 open reading frame 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: C19orf12provided by HGNC
Official Full Name: chromosome 19 open reading frame 12provided by HGNC
Primary source: HGNC:HGNC:25443
See related: Ensembl:ENSG00000131943 MIM:614297; AllianceGenome:HGNC:25443
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MPAN; NBIA3; NBIA4; SPG43
Summary: 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]
Expression: Ubiquitous expression in fat (RPKM 24.8), brain (RPKM 6.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q12

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (29698886..29715789, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (32224628..32241529, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (30189793..30206696, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.
Title: A novel C19ORF12 mutation in two MPAN sisters treated with deferiprone.
A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.
Title: A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration.
Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
Title: Two cases with mitochondrial membrane protein-associated neurodegeneration: genetic features and long-term clinical follow-up.
C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration.
Title: C19orf12 ablation causes ferroptosis in mitochondrial membrane protein-associated with neurodegeneration.
SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.
Title: SPG43 and ALS-like syndrome in the same family due to compound heterozygous mutations of the C19orf12 gene: a case description and brief review.
Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Title: Dominant mitochondrial membrane protein-associated neurodegeneration (MPAN) variants cluster within a specific C19orf12 isoform.
Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Title: Is there heart disease in cases of neurodegeneration associated with mutations in C19orf12?
Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
Title: Brain iron and metabolic abnormalities in C19orf12 mutation carriers: A 7.0 tesla MRI study in mitochondrial membrane protein-associated neurodegeneration.
pathogenic mutation in C19ORF12 gene (exon2, c.2327C>T, p.P776L) was identified from the patients according to the American College of Medical Genetics and Genomics (ACMG) guideline
Title: [Pedigree analysis of C19ORF12 p.Asp18Tyr mutation in a family with mitochondrial membrane protein associated neurodegeneration].
and justification for screening C19orf12 was known contribution of mitochondrial dysfunction to ALS etiology
Title: Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients.

Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary spastic paraplegia 43 MedGen: C2680446 OMIM: 615043 GeneReviews: Not available	Compare labs
Neurodegeneration with brain iron accumulation 4 MedGen: C3280371 OMIM: 614298 GeneReviews: Neurodegeneration with Brain Iron Accumulation Disorders Overview, Mitochondrial Membrane Protein-Associated Neurodegeneration	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2279 (e-PCR)
- UniSTS:473907

RH65212 (e-PCR)
- UniSTS:36674

STS-N21279 (e-PCR)
- UniSTS:77892

L18426 (e-PCR)
- UniSTS:34648

RH76650 (e-PCR)
- UniSTS:89708

RH65947 (e-PCR)
- UniSTS:20365

D11S3114 (e-PCR)
- UniSTS:152207

SGC34217 (e-PCR)
- UniSTS:15016

RH65823 (e-PCR)
- UniSTS:91889

D19S1092 (e-PCR)
- UniSTS:24562

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in autophagy	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial calcium ion homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to oxidative stress	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein C19orf12

Names: membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.