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    C10orf71 chromosome 10 open reading frame 71 [ Homo sapiens (human) ]

    Gene ID: 118461, updated on 3-Nov-2024

    Summary

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    Official Symbol
    C10orf71provided by HGNC
    Official Full Name
    chromosome 10 open reading frame 71provided by HGNC
    Primary source
    HGNC:HGNC:26973
    See related
    Ensembl:ENSG00000177354 AllianceGenome:HGNC:26973
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CEFIP
    Summary
    Predicted to be involved in positive regulation of calcineurin-NFAT signaling cascade. Predicted to be located in cytoplasm. Predicted to be active in Z disc. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Restricted expression toward heart (RPKM 13.9) See more
    Orthologs
    mouse all
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    Genomic context

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    See C10orf71 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49297050..49327492)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50145795..50176288)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50507215..50535537)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene FAM170B antisense RNA 1 Neighboring gene family with sequence similarity 170 member B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50378847-50379346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50382921-50383422 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50383423-50383922 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3347 Neighboring gene transmembrane protein 273 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3348 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3349 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:50451046-50451717 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50462512-50463040 Neighboring gene C10orf71 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:50505091-50505268 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2361 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr10:50543527-50544726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50587592-50588092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2362 Neighboring gene dorsal root ganglia homeobox Neighboring gene heat shock protein family D (Hsp60) member 1 pseudogene 17 Neighboring gene ERCC excision repair 6, chromatin remodeling factor

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene. Chograni M, et al. Hum Genomics, 2023 May 13. PMID 37179318, Free PMC Article
    2. The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling. Dierck F, et al. J Biol Chem, 2017 Sep 15. PMID 28717008, Free PMC Article
    3. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. Li Y, et al. J Clin Invest, 2024 Jun 17. PMID 38950288, Free PMC Article
    4. Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. Guan W, et al. Circ Cardiovasc Genet, 2014 Jun. PMID 24823311, Free PMC Article
    5. Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium. Wu JH, et al. Circ Cardiovasc Genet, 2013 Apr. PMID 23362303, Free PMC Article

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.
      Title: Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.
    2. Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.
      Title: Autosomal recessive congenital cataract is associated with a novel 4-bp splicing deletion mutation in a novel C10orf71 human gene.
    3. Data suggest that CEFIP (cardiac-enriched FHL2-interacting protein) interacts with FHL2 (four and a half LIM domains protein-2) and modulates calcineurin signaling in cardiomyocytes; CEFIP is located at sarcomeric z-disc and is up-regulated in several models of cardiomegaly.
      Title: The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu
    EBI GWAS Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ45913

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of calcineurin-NFAT signaling cascade IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of calcineurin-NFAT signaling cascade ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Z disc ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    cardiac-enriched FHL2-interacting protein
    Names
    cardiac enriched FHL2-interacting protein
    uncharacterized protein C10orf71

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001135196.2 → NP_001128668.1  cardiac-enriched FHL2-interacting protein

      See identical proteins and their annotated locations for NP_001128668.1

      Status: VALIDATED

      Source sequence(s)
      AC027674, AK127811
      Consensus CDS
      CCDS44387.1
      UniProtKB/Swiss-Prot
      A0AVL8, Q711Q0
      Related
      ENSP00000363259.3, ENST00000374144.8
      Conserved Domains (2) summary
      PHA03307
      Location:972 → 1269
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam15232
      Location:1270 → 1338
      DUF4585; Domain of unknown function (DUF4585)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      49297050..49327492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005269478.5 → XP_005269535.1  cardiac-enriched FHL2-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005269535.1

      UniProtKB/Swiss-Prot
      A0AVL8, Q711Q0
      Conserved Domains (2) summary
      PHA03307
      Location:972 → 1269
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam15232
      Location:1270 → 1338
      DUF4585; Domain of unknown function (DUF4585)

    2. XM_005269477.4 → XP_005269534.1  cardiac-enriched FHL2-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005269534.1

      UniProtKB/Swiss-Prot
      A0AVL8, Q711Q0
      Conserved Domains (2) summary
      PHA03307
      Location:972 → 1269
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam15232
      Location:1270 → 1338
      DUF4585; Domain of unknown function (DUF4585)

    3. XM_047424549.1 → XP_047280505.1  cardiac-enriched FHL2-interacting protein isoform X2

    4. XM_017015619.2 → XP_016871108.1  cardiac-enriched FHL2-interacting protein isoform X2

      Conserved Domains (2) summary
      PHA03307
      Location:826 → 1123
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam15232
      Location:1124 → 1192
      DUF4585; Domain of unknown function (DUF4585)

    5. XM_005269476.5 → XP_005269533.1  cardiac-enriched FHL2-interacting protein isoform X1

      See identical proteins and their annotated locations for XP_005269533.1

      UniProtKB/Swiss-Prot
      A0AVL8, Q711Q0
      Conserved Domains (2) summary
      PHA03307
      Location:972 → 1269
      PHA03307; transcriptional regulator ICP4; Provisional
      pfam15232
      Location:1270 → 1338
      DUF4585; Domain of unknown function (DUF4585)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      50145795..50176288
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054364671.1 → XP_054220646.1  cardiac-enriched FHL2-interacting protein isoform X1

    2. XM_054364670.1 → XP_054220645.1  cardiac-enriched FHL2-interacting protein isoform X1

    3. XM_054364673.1 → XP_054220648.1  cardiac-enriched FHL2-interacting protein isoform X2

    4. XM_054364674.1 → XP_054220649.1  cardiac-enriched FHL2-interacting protein isoform X2

    5. XM_054364672.1 → XP_054220647.1  cardiac-enriched FHL2-interacting protein isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_199459.3: Suppressed sequence

      Description
      NM_199459.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q711Q0.2 GenPept UniProtKB/Swiss-Prot:Q711Q0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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