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Aliases for C10orf71 Gene

Aliases for C10orf71 Gene

  • Chromosome 10 Open Reading Frame 71 2 3 5
  • Cardiac Enriched FHL2-Interacting Protein 3
  • Uncharacterized Protein C10orf71 3
  • CEFIP 3

External Ids for C10orf71 Gene

Previous GeneCards Identifiers for C10orf71 Gene

  • GC10P049851
  • GC10P050177
  • GC10P050507
  • GC10P044771

Summaries for C10orf71 Gene

GeneCards Summary for C10orf71 Gene

C10orf71 (Chromosome 10 Open Reading Frame 71) is a Protein Coding gene.

Additional gene information for C10orf71 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 C10orf71 Gene

Genomics for C10orf71 Gene

GeneHancer (GH) Regulatory Elements for C10orf71 Gene

Promoters and enhancers for C10orf71 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
GH10I049296 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.8 +2.0 1976 6 HDGF PKNOX1 SMAD1 ARNT FEZF1 POLR2B ZNF766 REST ZNF592 MEF2D C10orf71 C10orf71-AS1 LINC00843 AGAP6 WASHC2A RNA5SP317 DRGX ERCC6 GC10M049333
GH10I049270 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 16.9 -24.7 -24663 3.1 EBF1 NR2F2 C10orf71 C10orf71-AS1 C10orf128 DRGX GC10P049274
GH10I049023 Enhancer 0.7 Ensembl ENCODE 9.3 -272.4 -272432 2.4 TFAP4 RXRA NR2F1 NR2F6 HNF4A VSTM4 ENSG00000226576 FAM170B-AS1 C10orf71 C10orf71-AS1 LOC105378298 GC10M049015 PIR36323
GH10I049205 Enhancer 0.6 VISTA UCNEbase 10.5 -91.2 -91224 0.9 DRGX C10orf71 C10orf71-AS1 C10orf128 GC10P049274
GH10I049335 Enhancer 0.5 ENCODE 10.5 +38.5 38533 0.9 GABPB1 NR2C1 ZBTB40 NR2F2 NR2C2 GABPA DRGX C10orf71-AS1 C10orf71 PGBD3 GC10M049333
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C10orf71 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C10orf71 gene promoter:

Genomic Locations for C10orf71 Gene

Genomic Locations for C10orf71 Gene
chr10:49,297,056-49,327,492
(GRCh38/hg38)
Size:
30,437 bases
Orientation:
Plus strand
chr10:50,507,187-50,535,537
(GRCh37/hg19)

Genomic View for C10orf71 Gene

Genes around C10orf71 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C10orf71 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C10orf71 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C10orf71 Gene

Proteins for C10orf71 Gene

  • Protein details for C10orf71 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q711Q0-CJ071_HUMAN
    Recommended name:
    Uncharacterized protein C10orf71
    Protein Accession:
    Q711Q0
    Secondary Accessions:
    • A0AVL8

    Protein attributes for C10orf71 Gene

    Size:
    1435 amino acids
    Molecular mass:
    156477 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAC85340.1; Type=Frameshift; Positions=1282, 1418; Evidence={ECO:0000305};

    Alternative splice isoforms for C10orf71 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C10orf71 Gene

Post-translational modifications for C10orf71 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C10orf71 Gene

No data available for DME Specific Peptides for C10orf71 Gene

Domains & Families for C10orf71 Gene

Gene Families for C10orf71 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C10orf71 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C10orf71: view

No data available for Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for C10orf71 Gene

Function for C10orf71 Gene

Phenotypes From GWAS Catalog for C10orf71 Gene

genes like me logo Genes that share phenotypes with C10orf71: 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 C10orf71 Gene

Localization for C10orf71 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 C10orf71 gene
Compartment Confidence
nucleus 3

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 C10orf71 Gene

Pathways & Interactions for C10orf71 Gene

SuperPathways for C10orf71 Gene

No Data Available

Interacting Proteins for C10orf71 Gene

Gene Ontology (GO) - Biological Process for C10orf71 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C10orf71 Gene

Drugs & Compounds for C10orf71 Gene

No Compound Related Data Available

Transcripts for C10orf71 Gene

mRNA/cDNA for C10orf71 Gene

Unigene Clusters for C10orf71 Gene

Chromosome 10 open reading frame 71:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C10orf71 Gene

No ASD Table

Relevant External Links for C10orf71 Gene

GeneLoc Exon Structure for
C10orf71
ECgene alternative splicing isoforms for
C10orf71

Expression for C10orf71 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C10orf71 Gene

mRNA differential expression in normal tissues according to GTEx for C10orf71 Gene

This gene is overexpressed in Muscle - Skeletal (x35.1), Heart - Left Ventricle (x12.2), and Heart - Atrial Appendage (x4.2).

Protein differential expression in normal tissues from HIPED for C10orf71 Gene

This gene is overexpressed in Liver, secretome (49.5) and Breast (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C10orf71 Gene



Protein tissue co-expression partners for C10orf71 Gene

NURSA nuclear receptor signaling pathways regulating expression of C10orf71 Gene:

C10orf71

SOURCE GeneReport for Unigene cluster for C10orf71 Gene:

Hs.585480

Evidence on tissue expression from TISSUES for C10orf71 Gene

  • Muscle(3.5)
  • Heart(2.3)
genes like me logo Genes that share expression patterns with C10orf71: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C10orf71 Gene

Orthologs for C10orf71 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C10orf71 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C10H10orf71 33
  • 98.94 (n)
C10orf71 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C28H10orf71 33
  • 80.72 (n)
C10orf71 34
  • 73 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C28H10orf71 33
  • 79.52 (n)
C10orf71 34
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1564899 33
  • 75.8 (n)
mouse
(Mus musculus)
Mammalia 3425401B19Rik 33 16 34
  • 75.39 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 51 (a)
OneToMany
-- 34
  • 39 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia C10orf71 34
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves C6H10ORF71 33
  • 50.37 (n)
C10orf71 34
  • 30 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C10orf71 34
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii C10orf71 (1 of 2) 34
  • 13 (a)
OneToMany
C10orf71 (2 of 2) 34
  • 10 (a)
OneToMany
Species where no ortholog for C10orf71 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)
  • 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 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)

Evolution for C10orf71 Gene

ENSEMBL:
Gene Tree for C10orf71 (if available)
TreeFam:
Gene Tree for C10orf71 (if available)

Paralogs for C10orf71 Gene

No data available for Paralogs for C10orf71 Gene

Variants for C10orf71 Gene

Sequence variations from dbSNP and Humsavar for C10orf71 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000097504 -- 49,302,945(+) T/C intron_variant
rs1000106652 -- 49,320,607(+) A/T intron_variant
rs1000168168 -- 49,301,622(+) C/T intron_variant
rs1000171062 -- 49,325,027(+) G/C/T coding_sequence_variant, missense_variant
rs1000182534 -- 49,313,901(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C10orf71 Gene

Variant ID Type Subtype PubMed ID
esv2255118 CNV deletion 18987734
nsv1042677 CNV loss 25217958
nsv1122527 CNV deletion 24896259

Variation tolerance for C10orf71 Gene

Residual Variation Intolerance Score: 98.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 18.63; 98.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C10orf71 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C10orf71

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C10orf71 Gene

Disorders for C10orf71 Gene

Additional Disease Information for C10orf71

No disorders were found for C10orf71 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C10orf71 Gene

Publications for C10orf71 Gene

  1. The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling. (PMID: 28717008) Dierck F … Frey N (The Journal of biological chemistry 2017) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. (PMID: 24823311) Guan W … Steffen LM (Circulation. Cardiovascular genetics 2014) 3 58

Products for C10orf71 Gene

Sources for C10orf71 Gene

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