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C19orf12 Gene

protein-coding   GIFtS: 45
GCID: GC19M030189

Chromosome 19 Open Reading Frame 12

(Previous name: spastic paraplegia 43 (autosomal recessive))
(Previous symbol: SPG43)
  See C19orf12-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chromosome 19 Open Reading Frame 121 2     Neurodegeneration With Brain Iron Accumulation 41
SPG431 2 5     NBIA32
Spastic Paraplegia 43 (Autosomal Recessive)1 2     Neurodegeneration With Brain Iron Accumulation 32
NBIA42 5     Protein C19orf122

External Ids:    HGNC: 254431   Entrez Gene: 836362   Ensembl: ENSG000001319437   OMIM: 6142975   UniProtKB: Q9NSK73   

Export aliases for C19orf12 gene to outside databases

Previous GC identifers: GC00U914320 GC19M034884 GC19M034885 GC19M026701


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 mitochondrial membrane protein-associated neurodegeneration, and spastic paraplegia 43, autosomal recessive.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C19orf12 gene promoter:
         E2F-4   E2F-3a   E2F-5   E2F   E2F-1   E2F-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC19orf12 promoter sequence
   Search Chromatin IP Primers for C19orf12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C19orf12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q12   Ensembl cytogenetic band:  19q12   HGNC cytogenetic band: 19q13.11

C19orf12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf12 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M030189:  view genomic region     (about GC identifiers)

Start:
30,189,793 bp from pter      End:
30,206,452 bp from pter
Size:
16,660 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CS012_HUMAN, Q9NSK7 (See protein sequence)
Recommended Name: Protein C19orf12  
Size: 152 amino acids; 16286 Da
Secondary accessions: B3KQ16 Q0D2Q0 Q6P4C5 Q9BSL7
Alternative splicing: 4 isoforms:  Q9NSK7-1   Q9NSK7-2   Q9NSK7-3   Q9NSK7-4   

Explore the universe of human proteins at neXtProt for C19orf12: NX_Q9NSK7

Explore proteomics data for C19orf12 at MOPED


See C19orf12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (7 alternative transcripts): 
NP_001026896.2  NP_001242975.1  NP_001242976.1  NP_001269858.1  NP_001269859.1  NP_001269860.1  NP_113636.2  

ENSEMBL proteins: 
 ENSP00000313332   ENSP00000376102   ENSP00000467117   ENSP00000376103   ENSP00000467516  
 ENSP00000345497  

C19orf12 Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for C19orf12
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Novus Biologicals C19orf12 Lysates
Browse Sino Biological Recombinant Proteins
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Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for C19orf12

 
Search eBioscience for Proteins for C19orf12 

 
Search antibodies-online for proteins for C19orf12 

 
antibodies-online peptides for C19orf12

C19orf12 Antibody Products:

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C19orf12 Assay Products:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q9NSK7


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: CS012_HUMAN, Q9NSK7
Induction: Up-regulated during adipocyte differentiation in an in vitro preadipocyte differentiation model

Animal Models:

   genOway: Develop your customized and physiologically relevant rodent model for C19orf12

miRNA
Products:
    
miRTarBase miRNAs that target C19orf12:
hsa-mir-7-5p (MIRT025866), hsa-mir-484 (MIRT042283)

Block miRNA regulation of human, mouse, rat C19orf12 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate C19orf12 (see all 9):
hsa-miR-30c hsa-miR-30d hsa-miR-764 hsa-miR-766 hsa-miR-30a hsa-miR-29a* hsa-miR-30b hsa-miR-30e
SwitchGear 3'UTR luciferase reporter plasmidC19orf12 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for C19orf12
Predesigned siRNA for gene silencing in human, mouse, rat C19orf12

Gene Editing
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DNA2.0 Custom Protein Engineering Service for C19orf12

Clone
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OriGene clones in human, mouse for C19orf12 (see all 13)
OriGene ORF clones in mouse, rat for C19orf12
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): C19orf12 (NM_031448)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for C19orf12
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf12

Cell Line
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GenScript Custom overexpressing Cell Line Services for C19orf12
Browse ESI BIO Cell Lines and PureStem Progenitors for C19orf12 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf12


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
CS012_HUMAN, Q9NSK7: Mitochondrion. Mitochondrion membrane; Single-pass membrane protein. Endoplasmic reticulum
membrane; Single-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
cytosol2
nucleus2
extracellular1
peroxisome1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion IDA--
GO:0005783endoplasmic reticulum IDA--
GO:0005789endoplasmic reticulum membrane IEA--
GO:0016021integral component of membrane IEA--
GO:0031966mitochondrial membrane IEA--

Find genes that share ontologies with C19orf12           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C19orf12
Interactions:

    Search GeneGlobe Interaction Network for C19orf12

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

2 Interacting proteins for C19orf12 (Q9NSK73 ENSP000003761034) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
IKBKGQ9Y6K93, ENSP000003586224I2D: score=1 STRING: ENSP00000358622
SNX21ENSP000004185934STRING: ENSP00000418593
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Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008219cell death IEA--

Find genes that share ontologies with C19orf12           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for C19orf12 (CS012)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for C19orf12 gene (7 alternative transcripts): 
NM_001031726.3  NM_001256046.1  NM_001256047.1  NM_001282929.1  NM_001282930.1  NM_001282931.1  NM_031448.4  

Unigene Cluster for C19orf12:

Chromosome 19 open reading frame 12
Hs.529094  [show with all ESTs]
Unigene Representative Sequence: NR_045692
7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000323670(uc002nsj.3 uc002nsk.3 uc002nsl.3 uc002nsm.3)
ENST00000392276 ENST00000592153 ENST00000392275 ENST00000392278 ENST00000591243
ENST00000342680
miRNA
Products:
     
Block miRNA regulation of human, mouse, rat C19orf12 using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate C19orf12 (see all 9):
hsa-miR-30c hsa-miR-30d hsa-miR-764 hsa-miR-766 hsa-miR-30a hsa-miR-29a* hsa-miR-30b hsa-miR-30e
SwitchGear 3'UTR luciferase reporter plasmidC19orf12 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for C19orf12
Predesigned siRNA for gene silencing in human, mouse, rat C19orf12
Clone
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OriGene clones in human, mouse for C19orf12 (see all 13)
OriGene ORF clones in mouse, rat for C19orf12
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): C19orf12 (NM_031448)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for C19orf12
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C19orf12
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for C19orf12
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C19orf12
  QuantiTect SYBR Green Assays in human, mouse, rat C19orf12
  QuantiFast Probe-based Assays in human, mouse, rat C19orf12

Additional mRNA sequence: 

AK057185.1 AL162066.1 BC004957.1 BC009946.2 BC017211.2 BC063518.1 NR_045690.1 NR_045691.1 
NR_045692.1 

13 DOTS entries:

DT.450180  DT.313124  DT.95278209  DT.92438985  DT.40220416  DT.92438987  DT.100771360  DT.92438986 
DT.100742822  DT.100771355  DT.100771362  DT.91655141  DT.91705116 

Selected AceView cDNA sequences (see all 235):

AA234522 CR616725 AI658767 BE220776 BX328123 CR615514 BE888243 BM723812 
AA970719 CR604380 BU743044 CR605860 CR618605 AA845679 BC063518 CA406889 
AL516876 BX097725 NM_031448 AK057185 AI168686 AI818933 AL520335 BF313950 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf12    About this scheme

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


ECgene alternative splicing isoforms for C19orf12

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C19orf12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GATACTGAGG
C19orf12 Expression
About this image

C19orf12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C19orf12 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.529094
    Custom PCR Arrays for C19orf12
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C19orf12

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for C19orf12 gene from Selected species (see all 15)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia 1600014C10Rik1 , 5 RIKEN cDNA 1600014C10 gene1, 5 83.22(n)1
81.56(a)1
  7 (25.36 cM)5
722441  NM_028166.31  NP_082442.11 
 381832175 
chicken
(Gallus gallus)
Aves C11H19ORF121 chromosome 11 open reading frame, human C19orf12 70.18(n)
69.08(a)
  415757  NM_001277669.1  NP_001264598.1 
lizard
(Anolis carolinensis)
Reptilia --
--
Uncharacterized protein
72(a)
61(a)
many → 1
many → 1
GL343299.1(1639262-1644345)
GL343874.1(137996-139439)
tropical clawed frog
(Xenopus tropicalis)
Amphibia c19orf121 chromosome 19 open reading frame 12 64.3(n)
65.25(a)
  448278  NM_001004911.1  NP_001004911.1 
zebrafish
(Danio rerio)
Actinopterygii LOC1005371731 protein C19orf12 homolog 58.16(n)
56.74(a)
  100537173  XM_003198994.2  XP_003199042.1 
fruit fly
(Drosophila melanogaster)
Insecta CG37401 CG3740 51.09(n)
37.23(a)
  31119  NM_130576.4  NP_569932.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for C19orf12 (see all 472)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 19 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2001339911,2,,4
Neurodegeneration with brain iron accumulation 4 (NBIA4)4 --30199197(+) ACCCCC/TGACGA 11 R G mis1 int10--------
VAR_0666174
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0666172 T M mis40--------
VAR_0697564
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0697562 S F mis40--------
VAR_0697594
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0697592 G V mis40--------
VAR_0697614
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0697612 R S mis40--------
VAR_0666204
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0666202 G R mis40--------
VAR_0697624
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0697622 L Q mis40--------
VAR_0697584
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0697582 P L mis40--------
VAR_0697574
Neurodegeneration with brain iron accumulation 4 (NBIA4)4--see VAR_0697572 A P mis40--------
VAR_0706684
Spastic paraplegia 43, autosomal recessive (SPG43)4--see VAR_0706682 A P mis40--------

HapMap Linkage Disequilibrium report for C19orf12 (30189793 - 30206452 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for C19orf12: --
Human Gene Mutation Database (HGMD): C19orf12
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing C19orf12
DNA2.0 Custom Variant and Variant Library Synthesis for C19orf12

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 614297   
OMIM disorders: 614298  615043  
UniProtKB/Swiss-Prot: CS012_HUMAN, Q9NSK7
  • 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. 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 3 diseases for C19orf12:    
    About MalaCards
    mitochondrial membrane protein-associated neurodegeneration    spastic paraplegia 43, autosomal recessive    neurodegeneration with brain iron accumulation 3

    2 diseases from the University of Copenhagen DISEASES database for C19orf12:
    Hallervorden-Spatz syndrome     Optic atrophy

    Find genes that share disorders with C19orf12           About GenesLikeMe

    Genetic Association Database (GAD): C19orf12

    Export disorders for C19orf12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for C19orf12 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with C19orf12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hereditary Spastic Paraplegia Type 43 (SPG43) is Caused by Mutation in C19orf12. (PubMed id 23857908)1, 2, 3 LandourAc G....Burnett B.G. (Hum. Mutat. 2013)
    2. Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. (PubMed id 21981780)1, 2, 3 Hartig M.B.... Prokisch H. (Am. J. Hum. Genet. 2011)
    3. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. (PubMed id 23269600)1, 2 Hogarth P....Hayflick S.J. (Neurology 2013)
    4. C19orf12 mutations in neurodegeneration with brain iron accumulation mimicking juvenile amyotrophic lateral sclerosis. (PubMed id 22584950)1, 2 Deschauer M....Haack T.B. (J. Neurol. 2012)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Mitochondrial membrane protein-associated neurodegeneration (MPAN). (PubMed id 24209434)1 Hartig M....Klopstock T. (Int. Rev. Neurobiol. 2013)
    7. A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy. (PubMed id 23521069)2 Schottmann G....Knierim E. (Clin. Genet. 2013)
    8. PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation. (PubMed id 23166001)1 Dezfouli M.A....Elahi E. (Mov. Disord. 2013)
    9. Neurodegeneration with brain iron accumulation. (PubMed id 22691760)1 Dusek P. and Schneider S.A. (Curr. Opin. Neurol. 2012)
    10. A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy. (PubMed id 22508347)2 Horvath R....Chinnery P.F. (Mov. Disord. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 83636 HGNC: 25443 AceView: C19orf12 Ensembl:ENSG00000131943 euGenes: HUgn83636
    ECgene: C19orf12 H-InvDB: C19orf12

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for C19orf12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for C19orf12 gene:
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