C19orf12 - chromosome 19 open reading frame 12 Gene

Also Known as MPAN; NBIA3; NBIA4; SPG43

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83636

About C19orf12

Cytogenetic location: 19q12 Genomic coordinates (GRCh38): 19:29,698,886-29,715,789 (from NCBI)

This gene has 8 transcripts (splice variants), 324 orthologues and is associated with 5 phenotypes. Ubiquitous expression in fat (RPKM 24.8), brain (RPKM 6.3) and 23 other tissues.

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]

C19orf12 Products (7)

mRNA	Protein	Name
NM_001031726.4	NP_001026896.3	protein C19orf12 isoform 2
NM_001256046.3	NP_001242975.1	protein C19orf12 isoform 3
NM_001256047.2	NP_001242976.1	protein C19orf12 isoform 2
NM_001282929.1	NP_001269858.1	protein C19orf12 isoform 4
NM_001282930.3	NP_001269859.1	protein C19orf12 isoform 4
NM_001282931.3	NP_001269860.1	protein C19orf12 isoform 4
NM_031448.6	NP_113636.2	protein C19orf12 isoform 2

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in apoptotic process	IMP IMP: Inferred from mutant phenotype	26136767	GOA
involved in autophagy	IMP IMP: Inferred from mutant phenotype	26136767	GOA
involved in mitochondrial calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	26136767	GOA
involved in response to oxidative stress	IMP IMP: Inferred from mutant phenotype	26136767	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	23857908	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	26136767	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	23857908	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
protein C19orf12	membrane protein-associated neurodegeneration

Related Diseases

Diseases	Alias
Spastic Paraplegia 43, Autosomal Recessive	SPG43 Hereditary Spastic Paraplegia 43 Autosomal Recessive Spastic Paraplegia Type 43 Autosomal Recessive Spastic Paraplegia 43 Paraplegia, Spastic, Type 43, Autosomal Recessive
Neurodegeneration With Brain Iron Accumulation 4	NBIA4 Mpan Mitochondrial Protein-Associated Neurodegeneration Nbia Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Type 4 Mitochondrial Membrane Protein Associated Neurodegeneration Neurodegeneration, With Brain Iron Accumulation, Type 4
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Mitochondrial Membrane Protein-Associated Neurodegeneration	Neurodegeneration With Brain Iron Accumulation 4 Nbia4 Mpan Nbia Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation Neurodegeneration With Brain Iron Accumulation Type 4 Mitochondrial Membrane Protein-Associated Neurodegeneration Due To C19orf12 Mutation Mitochondrial Protein-Associated Neurodegeneration
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Spastic Ataxia	Spax Ataxia, Spastic
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Neurodegeneration With Brain Iron Accumulation 1	Pantothenate Kinase-Associated Neurodegeneration Pkan NBIA1 Hallervorden-Spatz Disease Hallervorden-Spatz Syndrome Pigmentary Pallidal Degeneration Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation Type 1 Classic Pantothenate Kinase-Associated Neurodegeneration Pkan Neuroaxonal Dystrophy, Juvenile-Onset Brain Iron Accumulation Type I Syndrome Nbia Neurodegeneration With Brain Iron Accumulation Nbia1, Classic Form Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form Pkan, Classic Form Atypical Pantothenate Kinase-Associated Neurodegeneration Nbia1, Atypical Form Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form Pkan, Atypical Form Hss Pkan Neuroaxonal Dystrophy Juvenile-Onset Neurodegeneration, With Brain Iron Accumulation, Type 1
Neurodegeneration With Brain Iron Accumulation 3	Neuroferritinopathy NBIA3 Ferritin-Related Neurodegeneration Hereditary Ferritinopathy Basal Ganglia Disease, Adult-Onset Adult Basal Ganglia Disease Neuroferritinopathy Basal Ganglia Disease, Adult-Onset Basal Ganglia Disease Adult-Onset Adult-Onset Basal Ganglia Disease Neurodegeneration, With Brain Iron Accumulation, Type 3
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Neurodegeneration With Brain Iron Accumulation 2a	Infantile Neuroaxonal Dystrophy Plan Seitelberger Disease Inad Infantile Neuroaxonal Dystrophy 1 Inad1 Pla2g6-Associated Neurodegeneration NBIA2A Neuroaxonal Dystrophy, Infantile Neurodegeneration, Pla2g6-Associated Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Phospholipase A2-Associated Neurodegeneration Nbia2 Pla2g6-Related Disorders Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy Karak Syndrome, Included Nbia2b Neuroaxonal Dystrophy, Atypical Neurodegeneration With Brain Iron Accumulation 2b Nbia, Pla2g6-Related Seitelberger'S Disease Neurodegeneration Pla2g6-Associated Dystrophy, Neuroaxonal, Infantile Neurodegeneration, With Brain Iron Accumulation, Type 2a Neuroaxonal Dystrophies Neurodegeneration With Brain Iron Accumulation 2
Neurodegeneration With Brain Iron Accumulation 2b	NBIA2B Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Neuroaxonal Dystrophy, Atypical Karak Syndrome Atypical Neuroaxonal Dystrophy Neurodegeneration With Brain Iron Accumulation Pla2g6-Related Neurodegeneration, With Brain Iron Accumulation, Type 2b Neurodegeneration With Brain Iron Accumulation 2
Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinsonian-Pyramidal Syndrome Pallidopyramidal Syndrome Parkinson Disease 15, Autosomal Recessive PARK15 Pkps Pallido-Pyramidal Syndrome Parkinson'S Disease 15 Autosomal Recessive Early-Onset Parkinson Disease 15 Autosomal Recessive Early-Onset Parkinson'S Disease 15 Pallido-Pyramidal Disease Parkinson Disease 15 Parkinson Disease 15 Autosomal Recessive Pps Parkinson Disease, Type 15
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Neurodegeneration With Brain Iron Accumulation 5	NBIA5 Beta-Propeller Protein-Associated Neurodegeneration Bpan Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood Senda Neurodegeneration With Brain Iron Accumulation Type 5 Neurodegeneration With Brain Iron Accululation 5 Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood Neurodegeneration, With Brain Iron Accululation, Type 5
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Kufor-Rakeb Syndrome	Park9 Krppd KRS Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia Autosomal Recessive Parkinson Disease 9 Parkinson Disease 9 Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset Autosomal Recessive Juvenile Onset Parkinson Disease 9 Parkinson Disease Type 9 Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia Park 9 Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis Cln12 Disease Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis Parkinson Disease Autosomal Recessive 9
Neuroaxonal Dystrophy	Neuroaxonal Dystrophies
Behr Syndrome	BEHRS Abortive Cerebellar Ataxia Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss Obsolete: Behr Syndrome Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Thyroid Dyshormonogenesis 1	TDH1 Hypothyroidism, Congenital, Due To Dyshormonogenesis, 1 Genetic Defect In Thyroid Hormonogenesis 1 Thyroid Hormonogenesis, Genetic Defect In, 1 Iodine Accumulation, Transport, Or Trapping Defect Iodide Accumulation, Transport, Or Trapping Defect Chdh1 Congenital Hypothyroidism Due To Dyshormonogenesis Type 1 Iodine Accumulation, Transport Or Trapping Defect
Alcohol-Related Neurodevelopmental Disorder	Static Encephalopathy Arnd Encephalopathy, Static Alcohol Related Neurodevelopmental Disorder
Spastic Paraplegia 75, Autosomal Recessive	SPG75 Hereditary Spastic Paraplegia 75 Autosomal Recessive Spastic Paraplegia Type 75 Autosomal Recessive Spastic Paraplegia 75
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Oromandibular Dystonia
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Movement Disease	Movement Disorders Movement Disorder
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01703	C19orf12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	C19orf12	VGNC	VGNC:54839
Mus musculus	C19orf12	MGD	MGI:1919494
Macaca mulatta	C19orf12	VGNC	VGNC:70383
Rattus norvegicus	C19orf12	RGD	RGD:1585208
Others	C19orf12	NCBI