Aliases for C9orf135 Gene

Aliases for C9orf135 Gene

  • Chromosome 9 Open Reading Frame 135 2 3 5
  • Protein C9orf135 3 4
  • Uncharacterized Protein C9orf135 3

External Ids for C9orf135 Gene

Previous GeneCards Identifiers for C9orf135 Gene

  • GC09P071625
  • GC09P072435
  • GC09P042280

Summaries for C9orf135 Gene

GeneCards Summary for C9orf135 Gene

C9orf135 (Chromosome 9 Open Reading Frame 135) is a Protein Coding gene. Diseases associated with C9orf135 include Bardet-Biedl Syndrome 12.

Additional gene information for C9orf135 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C9orf135 Gene

Genomics for C9orf135 Gene

GeneHancer (GH) Regulatory Elements for C9orf135 Gene

Promoters and enhancers for C9orf135 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J069820 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 512.7 +0.0 1 1.2 ZNF217 TCF12 USF1 SIX5 SAP30 RFX1 HCFC1 DEAF1 CREB3L1 ETS1 C9orf135 C9orf135-DT piR-37026-618
GH09J069822 Enhancer 0.5 ENCODE 500.7 +1.8 1760 0.2 MYNN PBX2 GLIS1 MEIS2 CTCF PKNOX1 C9orf135 C9orf135-DT piR-37026-618
GH09J069819 Enhancer 0.3 Ensembl 500.7 -1.6 -1599 0.4 FEZF1 PKNOX1 C9orf135-DT C9orf135 lnc-PTAR1-1
GH09J069823 Enhancer 0.7 Ensembl ENCODE 12.7 +4.2 4238 3.9 ATF2 NFE2 CHD7 POU5F1 MAFK NANOG RFX1 ATF7 C9orf135 PTAR1 C9orf135-DT piR-37026-618
GH09J069798 Enhancer 0.5 Ensembl 11.7 -21.9 -21899 0.2 ATF2 CREB1 JUND ATF3 FOS JUN ATF7 piR-49423-280 PTAR1 C9orf135 C9orf135-DT piR-57460-679 LOC105376076
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C9orf135 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C9orf135

Top Transcription factor binding sites by QIAGEN in the C9orf135 gene promoter:
  • HNF-1
  • HNF-1A
  • HSF1 (long)
  • HSF1short
  • Lmo2
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • YY1

Genomic Locations for C9orf135 Gene

Genomic Locations for C9orf135 Gene
chr9:69,820,800-69,906,237
(GRCh38/hg38)
Size:
85,438 bases
Orientation:
Plus strand
chr9:72,435,709-72,521,148
(GRCh37/hg19)
Size:
85,440 bases
Orientation:
Plus strand

Genomic View for C9orf135 Gene

Genes around C9orf135 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C9orf135 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C9orf135 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C9orf135 Gene

Proteins for C9orf135 Gene

  • Protein details for C9orf135 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VTT2-CI135_HUMAN
    Recommended name:
    Protein C9orf135
    Protein Accession:
    Q5VTT2
    Secondary Accessions:
    • A7E2U4
    • B2RN61

    Protein attributes for C9orf135 Gene

    Size:
    229 amino acids
    Molecular mass:
    26445 Da
    Quaternary structure:
    • Interacts with MYH9 (PubMed:28345668). Interacts with MYH10 (PubMed:28345668).

    Alternative splice isoforms for C9orf135 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C9orf135 Gene

Post-translational modifications for C9orf135 Gene

  • Glycosylation at Asn75
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C9orf135 Gene

Domains & Families for C9orf135 Gene

Gene Families for C9orf135 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C9orf135 Gene

InterPro:
ProtoNet:
genes like me logo Genes that share domains with C9orf135: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C9orf135 Gene

Function for C9orf135 Gene

Molecular function for C9orf135 Gene

UniProtKB/Swiss-Prot Induction:
Down-regulated following embryonic stem cells differentiation.

Phenotypes From GWAS Catalog for C9orf135 Gene

genes like me logo Genes that share phenotypes with C9orf135: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C9orf135 Gene

Localization for C9orf135 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C9orf135 Gene

Cell membrane; Single-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
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 C9orf135 gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytosol 3
extracellular 0

Gene Ontology (GO) - Cellular Components for C9orf135 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 28345668
GO:0005886 plasma membrane IDA,IBA 28345668
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C9orf135: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C9orf135 Gene

Pathways & Interactions for C9orf135 Gene

PathCards logo

SuperPathways for C9orf135 Gene

No Data Available

Interacting Proteins for C9orf135 Gene

;

Gene Ontology (GO) - Biological Process for C9orf135 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C9orf135 Gene

Drugs & Compounds for C9orf135 Gene

No Compound Related Data Available

Transcripts for C9orf135 Gene

mRNA/cDNA for C9orf135 Gene

4 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C9orf135 Gene

No ASD Table

Relevant External Links for C9orf135 Gene

GeneLoc Exon Structure for
C9orf135

Expression for C9orf135 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C9orf135 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C9orf135 Gene

This gene is overexpressed in Pituitary (x15.5) and Testis (x12.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C9orf135 Gene



Protein tissue co-expression partners for C9orf135 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C9orf135

SOURCE GeneReport for Unigene cluster for C9orf135 Gene:

Hs.444459

mRNA Expression by UniProt/SwissProt for C9orf135 Gene:

Q5VTT2-CI135_HUMAN
Tissue specificity: Expressed in undifferentiated embryonic stem cells.

Evidence on tissue expression from TISSUES for C9orf135 Gene

  • Nervous system(4.4)
  • Bone marrow(4.1)
genes like me logo Genes that share expression patterns with C9orf135: view

No data available for Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for C9orf135 Gene

Orthologs for C9orf135 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C9orf135 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C9H9orf135 30
  • 98.25 (n)
C9orf135 31
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C8H9orf135 31 30
  • 85.74 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C1H9orf135 30
  • 84.72 (n)
C9orf135 31
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 1700028P14Rik 17 31 30
  • 74.85 (n)
rat
(Rattus norvegicus)
Mammalia RGD1560242 30
  • 73.25 (n)
oppossum
(Monodelphis domestica)
Mammalia C9orf135 31
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C9orf135 31
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C9orf135 31
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485682 30
  • 53.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Species where no ortholog for C9orf135 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • zebrafish (Danio rerio)

Evolution for C9orf135 Gene

ENSEMBL:
Gene Tree for C9orf135 (if available)
TreeFam:
Gene Tree for C9orf135 (if available)

Paralogs for C9orf135 Gene

No data available for Paralogs for C9orf135 Gene

Variants for C9orf135 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C9orf135 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
714426 Benign: not provided 69,856,659(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
730583 Benign: not provided 69,857,903(+) T/C INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for C9orf135 Gene

Structural Variations from Database of Genomic Variants (DGV) for C9orf135 Gene

Variant ID Type Subtype PubMed ID
dgv12745n54 CNV gain 21841781
esv32574 CNV loss 17666407
esv3360236 CNV insertion 20981092
esv3573252 CNV loss 25503493
nsv1075653 CNV deletion 25765185
nsv1137467 CNV deletion 24896259
nsv1152887 CNV deletion 26484159
nsv466416 CNV gain 19166990
nsv471310 CNV gain 18288195
nsv515734 CNV loss 19592680
nsv524309 CNV loss 19592680
nsv6552 CNV insertion 18451855
nsv831611 CNV gain 17160897
nsv831612 CNV gain 17160897

Variation tolerance for C9orf135 Gene

Residual Variation Intolerance Score: 69.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.68; 57.14% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C9orf135 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C9orf135

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C9orf135 Gene

Disorders for C9orf135 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C9orf135 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bardet-biedl syndrome 12
  • bbs12
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C9orf135

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C9orf135: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C9orf135 Gene

Publications for C9orf135 Gene

  1. C9ORF135 encodes a membrane protein whose expression is related to pluripotency in human embryonic stem cells. (PMID: 28345668) Zhou S … Wen J (Scientific reports 2017) 2 3 4 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. A Bayesian approach to genetic association studies with family-based designs. (PMID: 20818722) Naylor MG … Lange C (Genetic epidemiology 2010) 3 41 54
  4. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PMID: 16335952) Liu T … Smith RD (Journal of proteome research 2005) 3 4 54
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4 54

Products for C9orf135 Gene

Sources for C9orf135 Gene