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Aliases for C11orf40 Gene

Aliases for C11orf40 Gene

  • Chromosome 11 Open Reading Frame 40 2 3 5
  • Ro/SSA1-Related Protein 3 4
  • NOV1 3 4
  • Putative Uncharacterized Protein C11orf40 3

External Ids for C11orf40 Gene

Previous GeneCards Identifiers for C11orf40 Gene

  • GC11M004251

Summaries for C11orf40 Gene

GeneCards Summary for C11orf40 Gene

C11orf40 (Chromosome 11 Open Reading Frame 40) is a Protein Coding gene. Diseases associated with C11orf40 include Alcohol-Related Birth Defect.

Additional gene information for C11orf40 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 C11orf40 Gene

Genomics for C11orf40 Gene

GeneHancer (GH) Regulatory Elements for C11orf40 Gene

Promoters and enhancers for C11orf40 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
GH11I004988 Promoter 0.7 EPDnew 8.9 -410.3 -410340 0.1 CREB1 FOS MMP26 OR51F1 C11orf40 OR51L1 OR51A5P GC11P004911 GC11P004912
GH11I004626 Enhancer 0.6 ENCODE 9.5 -48.5 -48546 0.2 CTCF ZNF654 RB1 REST ZNF2 RAD21 CC2D1A ZNF316 ARID2 SMC3 GC11P004628 OR51F2 OR52I2 C11orf40 TRIM68 OR51D1
GH11I004210 Enhancer 0.2 FANTOM5 14 +366.9 366870 0.3 GC11M004210 RDXP1 OR52K2 C11orf40 OR52I1 OR51D1 OR52K1 OR52M1 LOC100506082
GH11I004492 Enhancer 0.2 FANTOM5 6.5 +85.4 85404 0.1 OR52K2 OR51F1 OR52B4 OR51S1 OR51G2 OR51A4 OR52K1 C11orf40 OR52R1 OR51A7
GH11I004108 Enhancer 0.2 FANTOM5 4.9 +469.0 469000 0.3 RRM1-AS1 ART1 ART5 C11orf40 OR52I1 OR52K2 OR52K1 OR52M1 RRM1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C11orf40 on UCSC Golden Path with GeneCards custom track

Genomic Locations for C11orf40 Gene

Genomic Locations for C11orf40 Gene
chr11:4,571,423-4,577,820
(GRCh38/hg38)
Size:
6,398 bases
Orientation:
Minus strand
chr11:4,592,653-4,599,050
(GRCh37/hg19)

Genomic View for C11orf40 Gene

Genes around C11orf40 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C11orf40 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C11orf40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C11orf40 Gene

Proteins for C11orf40 Gene

  • Protein details for C11orf40 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WZ69-CK040_HUMAN
    Recommended name:
    Putative uncharacterized protein C11orf40
    Protein Accession:
    Q8WZ69

    Protein attributes for C11orf40 Gene

    Size:
    217 amino acids
    Molecular mass:
    24620 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C11orf40 Gene

Post-translational modifications for C11orf40 Gene

No Post-translational modifications

Other Protein References for C11orf40 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C11orf40 Gene

Domains & Families for C11orf40 Gene

Gene Families for C11orf40 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C11orf40 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for C11orf40 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C11orf40: view

No data available for UniProtKB/Swiss-Prot for C11orf40 Gene

Function for C11orf40 Gene

Phenotypes From GWAS Catalog for C11orf40 Gene

Phenotypes for C11orf40 Gene

GenomeRNAi human phenotypes for C11orf40:
genes like me logo Genes that share phenotypes with C11orf40: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C11orf40 Gene

Localization for C11orf40 Gene

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 C11orf40 gene
Compartment Confidence
nucleus 2
cytosol 2
extracellular 1
peroxisome 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 C11orf40 Gene

Pathways & Interactions for C11orf40 Gene

SuperPathways for C11orf40 Gene

No Data Available

Interacting Proteins for C11orf40 Gene

Selected Interacting proteins: Q8WZ69-CK040_HUMAN for C11orf40 Gene via IID

Symbol External ID(s) Details
CTGF

Gene Ontology (GO) - Biological Process for C11orf40 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C11orf40 Gene

Drugs & Compounds for C11orf40 Gene

No Compound Related Data Available

Transcripts for C11orf40 Gene

mRNA/cDNA for C11orf40 Gene

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

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C11orf40 Gene

No ASD Table

Relevant External Links for C11orf40 Gene

GeneLoc Exon Structure for
C11orf40
ECgene alternative splicing isoforms for
C11orf40

Expression for C11orf40 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C11orf40 Gene

NURSA nuclear receptor signaling pathways regulating expression of C11orf40 Gene:

C11orf40

SOURCE GeneReport for Unigene cluster for C11orf40 Gene:

Hs.350556
genes like me logo Genes that share expression patterns with C11orf40: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 C11orf40 Gene

Orthologs for C11orf40 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for C11orf40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C11H11orf40 33
  • 98.76 (n)
C11orf40 34
  • 97 (a)
OneToOne
Species where no ortholog for C11orf40 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C11orf40 Gene

ENSEMBL:
Gene Tree for C11orf40 (if available)
TreeFam:
Gene Tree for C11orf40 (if available)

Paralogs for C11orf40 Gene

No data available for Paralogs for C11orf40 Gene

Variants for C11orf40 Gene

Sequence variations from dbSNP and Humsavar for C11orf40 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000035046 -- 4,576,685(-) G/A intron_variant
rs1000086719 -- 4,576,931(-) A/C intron_variant
rs1000294047 -- 4,574,832(-) G/A/T intron_variant
rs1000327864 -- 4,572,057(-) C/G/T intron_variant
rs1000668786 -- 4,576,350(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C11orf40 Gene

Variant ID Type Subtype PubMed ID
dgv1586n54 CNV loss 21841781
esv2762892 CNV loss 21179565
esv3579247 CNV loss 25503493
nsv1036169 CNV loss 25217958
nsv1047344 CNV loss 25217958
nsv1054705 CNV loss 25217958
nsv553159 CNV gain 21841781
nsv553172 CNV loss 21841781
nsv832055 CNV loss 17160897

Variation tolerance for C11orf40 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.46; 64.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C11orf40 Gene

Human Gene Mutation Database (HGMD)
C11orf40
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C11orf40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C11orf40 Gene

Disorders for C11orf40 Gene

MalaCards: The human disease database

(1) MalaCards diseases for C11orf40 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
alcohol-related birth defect
  • arbd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C11orf40

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 C11orf40: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C11orf40 Gene

Publications for C11orf40 Gene

  1. Discovery of potential new gene variants and inflammatory cytokine associations with fibromyalgia syndrome by whole exome sequencing. (PMID: 23762283) Feng J … Shively JE (PloS one 2013) 3 58
  2. New genetic associations detected in a host response study to hepatitis B vaccine. (PMID: 20237496) Davila S … Seielstad M (Genes and immunity 2010) 3 58

Products for C11orf40 Gene

Sources for C11orf40 Gene

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