Aliases for C10orf71 Gene

Aliases for C10orf71 Gene

  • Chromosome 10 Open Reading Frame 71 2 3 5
  • Cardiac-Enriched FHL2-Interacting Protein 3 4
  • Cardiac Enriched FHL2-Interacting Protein 3
  • Uncharacterized Protein C10orf71 3
  • C10orf71 5
  • FLJ45913 2
  • 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. Diseases associated with C10orf71 include Posterior Myocardial Infarction.

UniProtKB/Swiss-Prot Summary for C10orf71 Gene

  • Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.

Additional gene information for C10orf71 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C10orf71 Gene

Genomics for C10orf71 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH10J049296 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 604.7 +2.0 2023 6 LEF1 IKZF1 ETV6 JUND ZIC2 PKNOX1 ZNF24 MTA1 REST ZNF740 C10orf71 C10orf71-AS1 lnc-CHAT-2 AGAP6 TIMM23B-AGAP6 WASHC2A RNA5SP317 PARG DRGX ERCC6
GH10J049313 Promoter/Enhancer 1 EPDnew Ensembl dbSUPER 600.4 +16.8 16792 0.4 ATF7 POLR2A CREB1 ATF2 EGR2 C10orf71 TMEM273 DRGX C10orf71-AS1 lnc-CHAT-2 lnc-DRGX-1
GH10J049295 Enhancer 0.4 Ensembl dbSUPER 600.7 -1.6 -1608 0.8 ZIC2 C10orf71 C10orf71-AS1 piR-61532-038 TMEM273
GH10J049270 Enhancer 1.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.9 -24.7 -24708 4.2 ZNF24 NR2F2 EBF1 C10orf71 C10orf71-AS1 TMEM273 DRGX piR-61532-038
GH10J049212 Enhancer 0.8 Ensembl 10.5 -84.3 -84308 1 RNF2 ARHGAP35 ZNF512 IKZF1 MTA2 PKNOX1 MTA1 NR2C1 ZNF24 DPF2 TMEM273 WASHC2A DRGX FAM170B-AS1 C10orf71 C10orf71-AS1 TIMM23B-AGAP6 VSTM4 piR-47086-034
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C10orf71 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C10orf71

Top Transcription factor binding sites by QIAGEN in the C10orf71 gene promoter:
  • Arnt
  • ATF-2
  • c-Myc
  • E47
  • Lhx3a
  • LHX3b
  • Max1
  • POU6F1 (c2)
  • SEF-1 (1)

Genomic Locations for C10orf71 Gene

Genomic Locations for C10orf71 Gene
chr10:49,297,009-49,330,145
(GRCh38/hg38)
Size:
33,137 bases
Orientation:
Plus strand
chr10:50,507,187-50,535,537
(GRCh37/hg19)
Size:
28,351 bases
Orientation:
Plus strand

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-CEFIP_HUMAN
    Recommended name:
    Cardiac-enriched FHL2-interacting protein
    Protein Accession:
    Q711Q0
    Secondary Accessions:
    • A0AVL8

    Protein attributes for C10orf71 Gene

    Size:
    1435 amino acids
    Molecular mass:
    156477 Da
    Quaternary structure:
    • Interacts with FHL2.
    SequenceCaution:
    • Sequence=CAC85340.1; Type=Frameshift; 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:
genes like me logo Genes that share domains with C10orf71: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C10orf71 Gene

Function for C10orf71 Gene

Molecular function for C10orf71 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in cardiomyocyte hypertrophy via activation of the calcineurin/NFAT signaling pathway.

Phenotypes From GWAS Catalog for C10orf71 Gene

Gene Ontology (GO) - Molecular Function for C10orf71 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28717008
genes like me logo Genes that share ontologies with C10orf71: view
genes like me logo Genes that share phenotypes with C10orf71: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C10orf71

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C10orf71 Gene

Localization for C10orf71 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C10orf71 Gene

Cytoplasm, myofibril, sarcomere, Z line.

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 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C10orf71 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0030018 Z disc ISS --
genes like me logo Genes that share ontologies with C10orf71: view

Pathways & Interactions for C10orf71 Gene

PathCards logo

SuperPathways for C10orf71 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C10orf71 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070886 positive regulation of calcineurin-NFAT signaling cascade IEA,ISS --
genes like me logo Genes that share ontologies with C10orf71: view

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

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C10orf71

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

No ASD Table

Relevant External Links for C10orf71 Gene

GeneLoc Exon Structure for
C10orf71

Expression for C10orf71 Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C10orf71

SOURCE GeneReport for Unigene cluster for C10orf71 Gene:

Hs.585480

mRNA Expression by UniProt/SwissProt for C10orf71 Gene:

Q711Q0-CEFIP_HUMAN
Tissue specificity: Expressed in the heart and skeletal muscle.

Evidence on tissue expression from TISSUES for C10orf71 Gene

  • Muscle(4.8)
  • Heart(2.9)
genes like me logo Genes that share expression patterns with C10orf71: view

Primer Products

No data available for 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 30
  • 98.94 (n)
C10orf71 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C28H10orf71 30
  • 80.72 (n)
C10orf71 31
  • 73 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C28H10orf71 30
  • 79.52 (n)
C10orf71 31
  • 72 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia RGD1564899 30
  • 75.8 (n)
Mouse
(Mus musculus)
Mammalia 3425401B19Rik 30 17 31
  • 75.39 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 51 (a)
OneToMany
-- 31
  • 39 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia C10orf71 31
  • 47 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C6H10ORF71 30
  • 50.37 (n)
C10orf71 31
  • 30 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C10orf71 31
  • 30 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii C10orf71 (1 of 2) 31
  • 13 (a)
OneToMany
C10orf71 (2 of 2) 31
  • 10 (a)
OneToMany
Species where no ortholog for C10orf71 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C10orf71 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
778387 Benign: not provided 49,324,110(+) T/G MISSENSE_VARIANT
779144 Benign: not provided 49,323,178(+) G/T MISSENSE_VARIANT
779145 Benign: not provided 49,323,862(+) C/T SYNONYMOUS_VARIANT
rs10857469 - p.His666Gln
rs10857470 - p.Phe958Tyr

Additional dbSNP identifiers (rs#s) for C10orf71 Gene

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

MalaCards: The human disease database

(1) MalaCards diseases for C10orf71 Gene - From: DISEASES

Disorder Aliases PubMed IDs
posterior myocardial infarction
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C10orf71

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

No data available for 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 4
  2. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  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

Products for C10orf71 Gene

Sources for C10orf71 Gene