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] See more...

Aliases for C19orf12 Gene

Aliases for C19orf12 Gene

  • Chromosome 19 Open Reading Frame 12 2 3 5
  • Membrane Protein-Associated Neurodegeneration 2 3
  • Protein C19orf12 3 4
  • Neurodegeneration With Brain Iron Accumulation 3 3
  • Neurodegeneration With Brain Iron Accumulation 4 2
  • Spastic Paraplegia 43 (Autosomal Recessive) 2
  • NBIA3 3
  • NBIA4 3
  • SPG43 3
  • MPAN 3

External Ids for C19orf12 Gene

Previous HGNC Symbols for C19orf12 Gene

  • SPG43

Previous GeneCards Identifiers for C19orf12 Gene

  • GC00U914320
  • GC19M034884
  • GC19M034885
  • GC19M030189
  • GC19M026701

Summaries for C19orf12 Gene

Entrez Gene Summary for C19orf12 Gene

  • 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]

GeneCards Summary for C19orf12 Gene

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.

Additional gene information for C19orf12 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C19orf12 Gene

Genomics for C19orf12 Gene

GeneHancer (GH) Regulatory Elements for C19orf12 Gene

Promoters and enhancers for C19orf12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J029711 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 763.4 +1.5 1517 6.1 ZBTB40 CTCF LCORL ZBTB6 RBPJ SMARCE1 POLR2A HCFC1 MYC ELF1 C19orf12 HSALNG0125220 ENSG00000266910 URI1 RPL9P32 POP4 HSALNG0125219
GH19J029707 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 758.4 +7.3 7325 2.7 FOXA1 MLX RBPJ NR2F1 NR2F6 ZNF121 RERE SP1 CEBPG TFE3 C19orf12 HSALNG0125219 HSALNG0125220
GH19J029660 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +46.4 46445 17.2 ZNF785 SP1 CTCF LCORL FOXA1 SMARCE1 POLR2A NR2F1 ZNF133 NFYC PLEKHF1 RPL9P32 ENSG00000266910 URI1 LOC105372352 POP4 ENSG00000267574 PPIAP58 ENSG00000267617 ZNF536
GH19J029679 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.2 +34.6 34601 3.3 MYC ETV6 MAX MLLT1 ZNF687 POLR2A IKZF1 IKZF2 CBFB EED C19orf12 PLEKHF1 URI1 lnc-C19orf12-1
GH19J029609 Enhancer 1 Ensembl ENCODE 12.3 +105.1 105090 1.7 CTCF MIXL1 MYC CC2D1A L3MBTL2 RAD21 GTF2F1 SP7 ZSCAN21 IKZF1 C19orf12 POP4 HSALNG0125210
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C19orf12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C19orf12 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5

Genomic Locations for C19orf12 Gene

Genomic Locations for C19orf12 Gene
chr19:29,698,886-29,715,789
(GRCh38/hg38)
Size:
16,904 bases
Orientation:
Minus strand
chr19:30,189,793-30,206,452
(GRCh37/hg19)
Size:
16,660 bases
Orientation:
Minus strand

Genomic View for C19orf12 Gene

Genes around C19orf12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C19orf12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C19orf12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf12 Gene

Proteins for C19orf12 Gene

  • Protein details for C19orf12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NSK7-CS012_HUMAN
    Recommended name:
    Protein C19orf12
    Protein Accession:
    Q9NSK7
    Secondary Accessions:
    • B3KQ16
    • Q0D2Q0
    • Q6P4C5
    • Q9BSL7

    Protein attributes for C19orf12 Gene

    Size:
    152 amino acids
    Molecular mass:
    16286 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C19orf12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C19orf12 Gene

Post-translational modifications for C19orf12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C19orf12 Gene

Domains & Families for C19orf12 Gene

Gene Families for C19orf12 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for C19orf12 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C19orf12: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C19orf12 Gene

Function for C19orf12 Gene

Molecular function for C19orf12 Gene

UniProtKB/Swiss-Prot Induction:
Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model.

Phenotypes From GWAS Catalog for C19orf12 Gene

genes like me logo Genes that share phenotypes with C19orf12: view

Human Phenotype Ontology for C19orf12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for C19orf12 Gene

Localization for C19orf12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C19orf12 Gene

Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum. Cytoplasm, cytosol. Note=In response to oxidative stress, relocates to the cytosol forming aggregates that partially co-localize with mitochondria. {ECO:0000269 PubMed:26136767}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C19orf12 gene
Compartment Confidence
mitochondrion 5
endoplasmic reticulum 5
cytosol 4
peroxisome 1
nucleus 1
extracellular 0

Gene Ontology (GO) - Cellular Components for C19orf12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA 23857908
GO:0005783 endoplasmic reticulum IEA,IDA 23857908
GO:0005829 cytosol IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C19orf12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C19orf12 Gene

Pathways & Interactions for C19orf12 Gene

PathCards logo

SuperPathways for C19orf12 Gene

No Data Available

Interacting Proteins for C19orf12 Gene

Gene Ontology (GO) - Biological Process for C19orf12 Gene

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
genes like me logo Genes that share ontologies with C19orf12: view

No data available for Pathways by source and SIGNOR curated interactions for C19orf12 Gene

Drugs & Compounds for C19orf12 Gene

No Compound Related Data Available

Transcripts for C19orf12 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1: -
SP2: - - -
SP3: - -
SP4: -

Relevant External Links for C19orf12 Gene

GeneLoc Exon Structure for
C19orf12
ECgene alternative splicing isoforms for
C19orf12

Expression for C19orf12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C19orf12 Gene

Protein differential expression in normal tissues from HIPED for C19orf12 Gene

This gene is overexpressed in Bone (11.3), Liver (10.1), and Stomach (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C19orf12 Gene



NURSA nuclear receptor signaling pathways regulating expression of C19orf12 Gene:

C19orf12

SOURCE GeneReport for Unigene cluster for C19orf12 Gene:

Hs.529094

Evidence on tissue expression from TISSUES for C19orf12 Gene

  • Nervous system(4.7)
  • Stomach(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C19orf12 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Thorax:
  • scapula
Limb:
  • ankle
  • arm
  • foot
  • forearm
  • hand
  • knee
  • lower limb
  • shin
  • thigh
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with C19orf12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for C19orf12 Gene

Orthologs for C19orf12 Gene

This gene was present in the common ancestor of animals.

Orthologs for C19orf12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf12 32
  • 99.34 (n)
C19orf12 33
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 33
  • 89 (a)
OneToMany
C18H19orf12 32
  • 88.18 (n)
-- 33
  • 56 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C1H19orf12 32
  • 85.08 (n)
C19orf12 33
  • 48 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690000 32
  • 83.45 (n)
mouse
(Mus musculus)
Mammalia 1600014C10Rik 17 33 32
  • 83.22 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf12 33
  • 71 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C19orf12 33
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11H19ORF12 33 32
  • 70.18 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 72 (a)
OneToMany
-- 33
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf12 32
  • 64.3 (n)
zebrafish
(Danio rerio)
Actinopterygii C18H19orf12 (1 of 3) 33
  • 60 (a)
OneToMany
LOC100537173 32
  • 58.16 (n)
C7H19orf12 (3 of 3) 33
  • 56 (a)
OneToMany
C7H19orf12 (2 of 3) 33
  • 48 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4992 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000432 32
  • 51.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3740 33 32
  • 51.09 (n)
OneToMany
CG11671 33
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1208 33
  • 38 (a)
OneToMany
-- 33
  • 36 (a)
OneToMany
Species where no ortholog for C19orf12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C19orf12 Gene

ENSEMBL:
Gene Tree for C19orf12 (if available)
TreeFam:
Gene Tree for C19orf12 (if available)

Paralogs for C19orf12 Gene

No data available for Paralogs for C19orf12 Gene

Variants for C19orf12 Gene

Sequence variations from dbSNP and Humsavar for C19orf12 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs10414583 likely-benign, Neurodegeneration with brain iron accumulation 4 29,699,376(-) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant
rs10417597 benign, Neurodegeneration with brain iron accumulation 4 29,699,751(-) A/G/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs10424582 benign, not specified, Neurodegeneration with brain iron accumulation 4 29,702,814(-) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, synonymous_variant
rs1048104 uncertain-significance, benign, Neurodegeneration with brain iron accumulation 4 29,702,275(-) G/A/C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1048123 benign, Neurodegeneration with brain iron accumulation 4 29,701,598(-) G/C/T 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C19orf12 Gene

Variant ID Type Subtype PubMed ID
nsv1061174 CNV gain 25217958
nsv1061604 CNV loss 25217958

Variation tolerance for C19orf12 Gene

Residual Variation Intolerance Score: 62.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C19orf12 Gene

Human Gene Mutation Database (HGMD)
C19orf12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C19orf12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf12 Gene

Disorders for C19orf12 Gene

MalaCards: The human disease database

(20) MalaCards diseases for C19orf12 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 43, autosomal recessive
  • spg43
neurodegeneration with brain iron accumulation 4
  • nbia4
tremor
  • tremors
dystonia
  • dystonic disease
hereditary spastic paraplegia
  • spastic paraplegia 3, autosomal dominant
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CS012_HUMAN
  • 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:0000269 PubMed:21981780, ECO:0000269 PubMed:22508347, ECO:0000269 PubMed:22584950, ECO:0000269 PubMed:22704260, ECO:0000269 PubMed:23269600, ECO:0000269 PubMed:23278385, ECO:0000269 PubMed:23521069, ECO:0000269 PubMed:23857908, ECO:0000269 PubMed:25592411, ECO:0000269 PubMed:26136767, ECO:0000269 PubMed:26187298}. 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:0000269 PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for C19orf12

genes like me logo Genes that share disorders with C19orf12: view

No data available for Genatlas for C19orf12 Gene

Publications for C19orf12 Gene

  1. Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺. (PMID: 26136767) Venco P … Tiranti V (Frontiers in genetics 2015) 2 3 4 56
  2. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. (PMID: 23857908) Landouré G … Burnett BG (Human mutation 2013) 2 3 4 56
  3. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. (PMID: 21981780) Hartig MB … Prokisch H (American journal of human genetics 2011) 2 3 4 56
  4. Behr syndrome with homozygous C19ORF12 mutation. (PMID: 26187298) Kleffner I … Husstedt IW (Journal of the neurological sciences 2015) 3 4 56
  5. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. (PMID: 23269600) Hogarth P … Hayflick SJ (Neurology 2013) 3 4 56

Products for C19orf12 Gene

Sources for C19orf12 Gene