C9orf43 Gene
protein-coding GIFtS: 39
GCID: GC09P116172 (predicted)
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chromosome 9 open reading frame 43
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Aliases
for C9orf43 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Chromosome 9 Open Reading Frame 431 2 | | MGC173581 | | Uncharacterized Protein C9orf432 |
Export aliases for C9orf43 gene to outside databasesPrevious GC identifers: GC09P111549 GC09P113252 GC09P115212 GC09P085779 |
Summaries
for C9orf43 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for C9orf43 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008470.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the C9orf43 gene promoter:
GR PPAR-gamma1 IRF-2 HFH-1 PPAR-gamma2 GR-alpha Tal-1beta ITF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for C9orf43
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf43 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q32 Ensembl cytogenetic band: 9q32 HGNC cytogenetic band: 9q33.1C9orf43 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09P116172: view genomic region
(about GC identifiers)
Start:
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116,172,334 bp from pter |
End:
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116,191,964 bp from pter |
Size:
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19,631 bases |
Orientation:
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plus strand |
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Proteins
for C9orf43 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CI043_HUMAN, Q8TAL5 (See
protein sequence)Recommended Name: Uncharacterized protein C9orf43 Size: 461 amino acids; 52222 DaExplore the universe of human proteins at neXtProt for C9orf43: NX_Q8TAL5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8TAL5
C9orf43 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_689999.1
ENSEMBL proteins: ENSP00000363280 ENSP00000288462
Human Recombinant Protein Products:
C9orf43 Antibody Products:
Assay Products for C9orf43: |
Protein
Domains /
Families
for C9orf43 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q8TAL5 1 Blocks protein family: IPB000209 Subtilisin serine protease family (S8) signature
|
Function
for C9orf43 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C9orf43 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C9orf43
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: C9orf43 (NM_152786) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C9orf43 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf43 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf43 |
|
Pathways & Interactions
for C9orf43 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C9orf43
|
Drugs & Compounds
for C9orf43 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for C9orf43
Search CenterWatch for drugs/clinical trials and news about C9orf43 / CI043
|
Transcripts
for C9orf43 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for C9orf43 gene: NM_152786.1 Unigene Cluster for C9orf43: Chromosome 9 open reading frame 43 Hs.632691 [show with all ESTs]Unigene Representative Sequence: BC0268843 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000490544 ENST00000374165(uc004bho.4) ENST00000288462(uc004bhp.3)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C9orf43 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C9orf43
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: C9orf43 (NM_152786) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for C9orf43 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf43 |
Additional cDNA sequence: AK301872.1 AK313867.1 BC026884.1 BC033037.2 3 DOTS entries: DT.92032763 DT.100744648 DT.97777564 24/26 AceView cDNA sequences (see all 26): BP368893 BX280246 BC026884 NM_152786 BC033037 CD243798 BI830338 CD358591 BI825721 BF980272 BP371014 BI560706 BG721717 BP369988 BP350141 BF979630 AI693523 AA451875 BE544071 BI562670 BU101506 AA451884 BM453004 BI048487
GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for C9orf43 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 |
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| SP1: | | | | | | | | | - | | - | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | - | | | | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | | | | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for C9orf43
|
Expression
for C9orf43 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| C9orf43 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGCAGCAGC
About this image
See C9orf43 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C9orf43
SOURCE GeneReport for Unigene cluster: Hs.632691
SABiosciences Custom PCR Arrays for C9orf43
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C9orf43
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat C9orf43 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf43 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf43 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf43 |
Orthologs
for C9orf43 gene
(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)
About This Section
|
This gene was present in the common ancestor of human and mouse.
Orthologs for C9orf43 gene from 1/5 species (see all 5) About this table
ENSEMBL Gene Tree for C9orf43 (if available)
TreeFam Gene Tree for C9orf43 (if available) |
Paralogs
for C9orf43 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for C9orf43 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for C9orf43 (116172334 - 116191964 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for C9orf43: -- | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for C9orf43 gene
(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.)
About This Section
|
C9orf43 for disorders About GeneDecksing
2  diseases for C9orf43: About MalaCardscleft lip/palate cleft lip
Human Genome Epidemiology (HuGE) Navigator: C9orf43 (1 document)
Export disorders for C9orf43 gene to outside databases
|
Publications
for C9orf43 gene (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)
About This Section
|
PubMed articles for C9orf43 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf43) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
- Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. (PubMed id 20583170)1 Letra A....Vieira A.R. (2010)
|
External Searches for C9orf43 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing C9orf43 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing C9orf43 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing C9orf43 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for C9orf43 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for C9orf43 gene:
Search GeneIP for patents involving C9orf43
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for C9orf43 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for C9orf43 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C9orf43 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for C9orf43 | | | OriGene Protein Over-expression Lysate for C9orf43 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for C9orf43 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C9orf43 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C9orf43 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for C9orf43 | | OriGene Custom Protein Services for C9orf43 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat C9orf43 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C9orf43 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf43 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C9orf43 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C9orf43 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C9orf43 |
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 |  |  |  | |
| | | | Search Tocris compounds for C9orf43 |
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 | | | C9orf43 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C9orf43 |
|  |  |  | | | | Search ThermoFisher Antibodies for C9orf43 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C9orf43 |
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