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Aliases for C19orf12 Gene

Aliases for C19orf12 Gene

  • Chromosome 19 Open Reading Frame 12 2 3 5
  • Neurodegeneration With Brain Iron Accumulation 4 2
  • Neurodegeneration With Brain Iron Accumulation 3 3
  • Spastic Paraplegia 43 (Autosomal Recessive) 2
  • NBIA3 3
  • NBIA4 3
  • SPG43 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.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C19orf12 Gene

Genomics for C19orf12 Gene

Regulatory Elements for C19orf12 Gene

Promoters for C19orf12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around C19orf12 on UCSC Golden Path with GeneCards custom track

Genomic Location for C19orf12 Gene

Chromosome:
19
Start:
29,698,886 bp from pter
End:
29,715,789 bp from pter
Size:
16,904 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

Proteomics data for C19orf12 Gene at MOPED

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

Protein Domains for C19orf12 Gene

ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for Gene Families , Suggested Antigen Peptide Sequences 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 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

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 membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C19orf12 Gene COMPARTMENTS Subcellular localization image for C19orf12 gene
Compartment Confidence
endoplasmic reticulum 5
mitochondrion 5
cytosol 2
nucleus 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for C19orf12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 23857908
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031966 mitochondrial membrane IEA --
genes like me logo Genes that share ontologies with C19orf12: view

Pathways & Interactions for C19orf12 Gene

SuperPathways for C19orf12 Gene

No Data Available

Interacting Proteins for C19orf12 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000376103%0d%0a9606.ENSP00000358622%0d%0a
Selected Interacting proteins: Q9NSK7-CS012_HUMAN ENSP00000376103 for C19orf12 Gene via I2D STRING

Gene Ontology (GO) - Biological Process for C19orf12 Gene

None

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

Unigene Clusters for C19orf12 Gene

Chromosome 19 open reading frame 12:
Representative Sequences:

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 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, MOPED, and MaxQB for C19orf12 Gene



SOURCE GeneReport for Unigene cluster for C19orf12 Gene Hs.529094

genes like me logo Genes that share expression patterns with C19orf12: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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 C19orf12 36
  • 99 (a)
OneToOne
C19H19orf12 35
  • 99.34 (n)
  • 99.34 (a)
cow
(Bos Taurus)
Mammalia C18H19orf12 35
  • 88.18 (n)
  • 89.36 (a)
-- 36
  • 89 (a)
OneToMany
-- 36
  • 56 (a)
OneToMany
dog
(Canis familiaris)
Mammalia C19orf12 36
  • 48 (a)
OneToOne
C1H19orf12 35
  • 85.08 (n)
  • 81.82 (a)
mouse
(Mus musculus)
Mammalia 1600014C10Rik 16
1600014C10Rik 36
  • 82 (a)
OneToOne
1600014C10Rik 35
  • 83.22 (n)
  • 81.56 (a)
oppossum
(Monodelphis domestica)
Mammalia C19orf12 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C19orf12 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC690000 35
  • 83.45 (n)
  • 82.52 (a)
chicken
(Gallus gallus)
Aves C11H19ORF12 35
  • 70.18 (n)
  • 69.08 (a)
C11H19ORF12 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 72 (a)
OneToMany
-- 36
  • 61 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf12 35
  • 64.3 (n)
  • 65.25 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4992 35
zebrafish
(Danio rerio)
Actinopterygii LOC100537173 35
  • 58.16 (n)
  • 56.74 (a)
C18H19orf12 (1 of 3) 36
  • 60 (a)
OneToMany
C7H19orf12 (2 of 3) 36
  • 48 (a)
OneToMany
C7H19orf12 (3 of 3) 36
  • 56 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000432 35
  • 51.82 (n)
  • 37.96 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG3740 35
  • 51.09 (n)
  • 37.23 (a)
CG11671 36
  • 26 (a)
OneToMany
CG3740 36
  • 36 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToMany
CSA.1208 36
  • 38 (a)
OneToMany
Species with no ortholog for C19orf12:
  • 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 Sequence Context AA Info Type
VAR_066617 Neurodegeneration with brain iron accumulation 4 (NBIA4)
rs200133991 Neurodegeneration with brain iron accumulation 4 (NBIA4) 29,708,290(+) ACCCC(C/T)GACGA intron-variant, reference, missense, utr-variant-5-prime
VAR_066619 Neurodegeneration with brain iron accumulation 4 (NBIA4)
VAR_066620 Neurodegeneration with brain iron accumulation 4 (NBIA4)
rs146170087 - 29,702,747(+) CTCCT(C/T)GGTGA reference, missense, utr-variant-3-prime

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)

Relevant External Links for C19orf12 Gene

HapMap Linkage Disequilibrium report
C19orf12
Human Gene Mutation Database (HGMD)
C19orf12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for C19orf12 Gene

Disorders for C19orf12 Gene

MalaCards: The human disease database

(15) MalaCards diseases for C19orf12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spastic paraplegia 43, autosomal recessive
  • autosomal recessive spastic paraplegia type 43
neurodegeneration with brain iron accumulation 4
  • nbia4
mitochondrial membrane protein-associated neurodegeneration
  • nbia4
spastic paraplegia 43
  • spastic paraplegia 43, autosomal recessive
spastic paraplegia 75
  • spg75
- 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:23269600, ECO:0000269 PubMed:23521069, ECO:0000269 PubMed: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:0000269 PubMed:23857908}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for C19orf12

Genetic Association Database (GAD)
C19orf12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12. (PMID: 23857908) LandourAc G. … Burnett B.G. (Hum. Mutat. 2013) 2 3 4 67
  2. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. (PMID: 21981780) Hartig M.B. … Prokisch H. (Am. J. Hum. Genet. 2011) 2 3
  3. Behr syndrome with homozygous C19ORF12 mutation. (PMID: 26187298) Kleffner I. … Husstedt I.W. (J. Neurol. Sci. 2015) 3
  4. 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 CaA^a8_. (PMID: 26136767) Venco P. … Tiranti V. (Front Genet 2015) 3
  5. Mitochondrial protein associated neurodegeneration - case report. (PMID: 24636776) KA8ysz B. … KmieA8 T. (Neurol. Neurochir. Pol. 2014) 3

Products for C19orf12 Gene

Sources for C19orf12 Gene

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