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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

C9orf129 Gene

protein-coding GIFtS: 33
GCID: GC09M096080 (predicted)

chromosome 9 open reading frame 129

Search for C9orf129
in

MalaCards

our new
Human Malady Compendium

(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 129¹ ²
BA165J3.3¹
Putative Uncharacterized Protein C9orf129²

External Ids:	HGNC: 31116¹	Entrez Gene: 445577²	Ensembl: ENSG00000204352⁷	UniProtKB: Q5T035³

Export aliases for C9orf129 gene to outside databases

Previous GC identifers: GC00U921013 GC09U900668 GC09M095121 GC09M065757

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(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 C9orf129 gene promoter:
COUP-TF1 AML1a COUP HNF-4alpha2 Arnt HNF-4alpha1 MEF-2A COUP-TF aMEF-2 Hlf
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C9orf129

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

Entrez Gene cytogenetic band: 9q22.31 Ensembl cytogenetic band: 9q22.31 HGNC cytogenetic band: 9q22.31

C9orf129 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C9orf129 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M096080: view genomic region (about GC identifiers)

Start:	96,080,481 bp from pter	End:	96,108,696 bp from pter
Size:	28,216 bases	Orientation:	minus strand

(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: CI129_HUMAN, Q5T035 (See protein sequence)

Recommended Name: Putative uncharacterized protein C9orf129

Size: 196 amino acids; 20715 Da

Explore the universe of human proteins at neXtProt for C9orf129: NX_Q5T035

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q5T035

C9orf129 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001092278.1

ENSEMBL proteins:

ENSP00000364568

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q5T035

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Animal Models:

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(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 Central^TM Interacting Genes and Proteins Networks for C9orf129

(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 Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

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Search CenterWatch for drugs/clinical trials and news about C9orf129 / CI129

(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,
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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 C9orf129 gene:

NM_001098808.1

Unigene Cluster for C9orf129:

Chromosome 9 open reading frame 129

Hs.575636 [show with all ESTs]

Unigene Representative Sequence: NM_001098808

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000375419(uc010mre.3)

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2 DOTS entries:

DT.100739040 DT.95353600

GeneLoc Exon Structure

(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

C9orf129 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCCAGCGCA

About this image

C9orf129 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See C9orf129 Protein Expression from SPIRE MOPED and PaxDB
SOURCE GeneReport for Unigene cluster: Hs.575636

SABiosciences Custom PCR Arrays for C9orf129

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In Situ
Assay Products:

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(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

--

ENSEMBL Gene Tree for C9orf129 (if available)
TreeFam Gene Tree for C9orf129 (if available)

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

Paralogs for C9orf129 gene

FAM120C² FAM120B² FAM120A²

1 SIMAP similar gene for C9orf129 using alignment to 1 protein entry: CI129_HUMAN:

FAM120A

C9orf129 for paralogs About GeneDecksing

(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

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs191618004^1,2		--	96083480(+)	`ATGTCC/TAACTG`	1	--	int¹		0	--	--	--	--
rs140165805^1,2		--	96083565(+)	`CCATTC/TACATC`	1	--	int¹		0	--	--	--	--
rs145364214^1,2		--	96083670(+)	`AGTGAC/TGCTGC`	1	--	int¹		0	--	--	--	--
rs114548844^1,2	F	--	96083725(+)	`GACCTC/TGGAGT`	1	--	int¹		1		WA	118
rs182603187^1,2		--	96084020(+)	`AAGTGA/GTTCTT`	1	--	int¹		0	--	--	--	--
rs10992705^1,2		--	96084077(+)	`tcacaC/Tctggc`	1	--	int¹		0	--	--	--	--
rs188016005^1,2		--	96084143(+)	`CAAACC/TCCTGA`	1	--	int¹		0	--	--	--	--
rs192293886^1,2		--	96084160(+)	`GATCCA/GCCCGC`	1	--	int¹		0	--	--	--	--
rs114037587^1,2	F	--	96084209(+)	`ACCGTG/CCCCGG`	1	--	int¹		2		WA EA	238
rs5899176^1,2	C	--	96084255(+)	`ATCAT-/TTTC TTTAA`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for C9orf129 (96080481 - 96108696 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for C9orf129
1 Inversion: 59872

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(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

C9orf129 for disorders About MalaCards

C9orf129 for disorders About GeneDecksing

Human Genome Epidemiology (HuGE) Navigator: C9orf129 (1 document)

Export disorders for C9orf129 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)
About This Section

PubMed articles for C9orf129 gene integrated from 9 sources:
(articles sorted by number of sources associating them with C9orf129)

Utopia: connect your pdf to the dynamic
world of online information

Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)² Humphray S.J.... Dunham I. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 445577	HGNC: 31116	Ensembl:ENSG00000204352	euGenes: HUgn445577	ECgene: C9orf129
H-InvDB: C9orf129

(According to HUGE)
About This Section

(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 C9orf129	Pharmacogenomics, SNPs, Pathways

Intellectual Property for C9orf129 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for C9orf129 gene:
Search GeneIP for patents involving C9orf129

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(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 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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C9orf129 Gene

chromosome 9 open reading frame 129

Aliases
for C9orf129 gene

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C9orf129 Gene

chromosome 9 open reading frame 129

Aliasesfor C9orf129 gene

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Proteinsfor C9orf129 gene

Protein Domains /Familiesfor C9orf129 gene

Functionfor C9orf129 gene

Pathways & Interactionsfor C9orf129 gene

Drugs & Compoundsfor C9orf129 gene

Transcriptsfor C9orf129 gene

Expression for C9orf129 gene

Orthologsfor C9orf129 gene

Paralogsfor C9orf129 gene

Genomic Variantsfor C9orf129 gene

Disorders / Diseasesfor C9orf129 gene

Publicationsfor C9orf129 gene

External Searches for C9orf129 gene

Genome Databases showing C9orf129 gene

Other Databases showing C9orf129 gene

Specialized Databases showing C9orf129 gene

Intellectual Propertyfor C9orf129 gene

Productsfor C9orf129 gene

View Random Gene

Aliases
for C9orf129 gene

Summaries
for C9orf129 gene

Genomic Views
for C9orf129 gene

Proteins
for C9orf129 gene

Protein Domains /
Families
for C9orf129 gene

Function
for C9orf129 gene

Pathways & Interactions
for C9orf129 gene

Drugs & Compounds
for C9orf129 gene

Transcripts
for C9orf129 gene

Expression
for C9orf129 gene

Orthologs
for C9orf129 gene

Paralogs
for C9orf129 gene

Genomic Variants
for C9orf129 gene

Disorders / Diseases
for C9orf129 gene

Publications
for C9orf129 gene

Intellectual Property
for C9orf129 gene

Products
for C9orf129 gene