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Aliases for C9orf139 Gene

Aliases for C9orf139 Gene

  • Chromosome 9 Open Reading Frame 139 2 3 5

External Ids for C9orf139 Gene

Previous GeneCards Identifiers for C9orf139 Gene

  • GC09P139041
  • GC09P139921
  • GC09P109381

Summaries for C9orf139 Gene

GeneCards Summary for C9orf139 Gene

C9orf139 (Chromosome 9 Open Reading Frame 139) is a Protein Coding gene.

Additional gene information for C9orf139 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C9orf139 Gene

Genomics for C9orf139 Gene

Regulatory Elements for C9orf139 Gene

Enhancers for C9orf139 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09H136881 1.6 Ensembl ENCODE dbSUPER 11.4 -144.8 -144802 2.7 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 SLC30A9 FOS PHPT1 MAMDC4 C9orf172 TMEM141 LCN12 PRR31 C8G FBXW5 RABL6 ABCA2
GH09H136884 1.3 ENCODE dbSUPER 11.4 -141.2 -141190 3.1 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZBTB7B ZNF207 ZNF143 FOS SP3 EHMT1 SDCCAG3 ANAPC2 PHPT1 SNHG7 LOC651337 MAMDC4 C9orf172 FBXW5 C8G
GH09H137156 0.8 ENCODE 11 +129.5 129534 1.2 KLF1 ZNF2 ZNF324 ZFHX2 GLIS2 POLR2A EGR1 PATZ1 PRDM10 KLF7 MAN1B1 ANAPC2 SSNA1 TPRN DPP7 TMEM203 NDOR1 ABCA2 C9orf139 UAP1L1
GH09H137023 0.9 ENCODE dbSUPER 0.7 -4.1 -4061 0.2 TFAP4 NFIA NR2F1 BCL11B ZBTB7A NR2F2 NFIC BCL11A NR2C1 NR2F6 C9orf139 PIR32105
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C9orf139 on UCSC Golden Path with GeneCards custom track

Promoters for C9orf139 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243126 836 1001 SIN3A ZNF2 ZBTB7B ZNF766 GLIS2 ZNF143 KLF7 SP3 SMARCB1 SMARCA4

Genomic Locations for C9orf139 Gene

Genomic Locations for C9orf139 Gene
10,494 bases
Plus strand

Genomic View for C9orf139 Gene

Genes around C9orf139 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf139 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf139 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf139 Gene

Proteins for C9orf139 Gene

  • Protein details for C9orf139 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Uncharacterized protein C9orf139
    Protein Accession:
    Secondary Accessions:
    • A2RUA3
    • B9EGW2
    • Q5SPY0
    • Q8N224

    Protein attributes for C9orf139 Gene

    190 amino acids
    Molecular mass:
    20001 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAC04202.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for C9orf139 Gene

Post-translational modifications for C9orf139 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C9orf139 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for C9orf139 Gene

Domains & Families for C9orf139 Gene

Protein Domains for C9orf139 Gene


Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C9orf139: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C9orf139 Gene

Function for C9orf139 Gene

Phenotypes From GWAS Catalog for C9orf139 Gene

genes like me logo Genes that share phenotypes with C9orf139: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C9orf139 Gene

Localization for C9orf139 Gene

Subcellular locations from

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 C9orf139 gene
Compartment Confidence
extracellular 2
mitochondrion 1
nucleus 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for C9orf139 Gene

Pathways & Interactions for C9orf139 Gene

SuperPathways for C9orf139 Gene

No Data Available

Interacting Proteins for C9orf139 Gene

Gene Ontology (GO) - Biological Process for C9orf139 Gene


No data available for Pathways by source and SIGNOR curated interactions for C9orf139 Gene

Drugs & Compounds for C9orf139 Gene

No Compound Related Data Available

Transcripts for C9orf139 Gene

mRNA/cDNA for C9orf139 Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C9orf139 Gene

Chromosome 9 open reading frame 139:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf139 Gene

No ASD Table

Relevant External Links for C9orf139 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C9orf139 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C9orf139 Gene

mRNA differential expression in normal tissues according to GTEx for C9orf139 Gene

This gene is overexpressed in Whole Blood (x23.3) and Spleen (x4.3).

NURSA nuclear receptor signaling pathways regulating expression of C9orf139 Gene:


SOURCE GeneReport for Unigene cluster for C9orf139 Gene:

genes like me logo Genes that share expression patterns with C9orf139: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf139 Gene

Orthologs for C9orf139 Gene

Evolution for C9orf139 Gene

Gene Tree for C9orf139 (if available)
Gene Tree for C9orf139 (if available)

No data available for Orthologs for C9orf139 Gene

Paralogs for C9orf139 Gene

No data available for Paralogs for C9orf139 Gene

Variants for C9orf139 Gene

Sequence variations from dbSNP and Humsavar for C9orf139 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs1000008365 -- 137,027,747(+) CCCTC(A/C/G)AGCCA intron-variant, utr-variant-5-prime
rs1000227654 -- 137,032,851(+) CTTCC(C/T)CCAGC nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs1000249699 -- 137,038,011(+) GGAGT(A/G)CGGTG downstream-variant-500B
rs1000324 -- 137,033,913(-) CGCGT(C/T)CTCAT intron-variant, upstream-variant-2KB
rs1000940518 -- 137,030,164(+) GCCAG(A/G)CCCAC intron-variant, downstream-variant-500B, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for C9orf139 Gene

Variant ID Type Subtype PubMed ID
nsv951206 CNV deletion 24416366
nsv616005 CNV loss 21841781
nsv616004 CNV loss 21841781
nsv524322 CNV loss 19592680
nsv513004 CNV insertion 21212237
nsv469918 CNV loss 18288195
nsv1119617 CNV deletion 24896259
nsv1113023 CNV deletion 24896259
nsv1077200 CNV deletion 25765185
esv3332181 CNV duplication 20981092
esv2761561 CNV gain 21179565
esv2422220 CNV deletion 17116639
dgv13007n54 CNV loss 21841781

Variation tolerance for C9orf139 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.09; 50.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C9orf139 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf139 Gene

Disorders for C9orf139 Gene

Relevant External Links for C9orf139

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for C9orf139 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C9orf139 Gene

Publications for C9orf139 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  2. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 4 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for C9orf139 Gene

Sources for C9orf139 Gene

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