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    C2CD4C C2 calcium dependent domain containing 4C [ Homo sapiens (human) ]

    Gene ID: 126567, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C2CD4Cprovided by HGNC
    Official Full Name
    C2 calcium dependent domain containing 4Cprovided by HGNC
    Primary source
    HGNC:HGNC:29417
    See related
    Ensembl:ENSG00000183186 MIM:610336; AllianceGenome:HGNC:29417
    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
    NLF3; FAM148C; KIAA1957
    Summary
    Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 4.0), fat (RPKM 2.0) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C2CD4C in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (405445..409147, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (353898..357600, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (405445..409147, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene sperm microtubule associated protein 2 Neighboring gene uncharacterized LOC124904606 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13553 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13554 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:383808-384334 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:384335-384861 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr19:386621-387186 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:387187-387751 Neighboring gene OCT4-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:387752-388316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:388882-389447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:389448-390012 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:397986-399185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:406130-407009 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:407010-407890 Neighboring gene proline-rich proteoglycan 2-like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:412911-413666 Neighboring gene SHC adaptor protein 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:427767-428344 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:428871-430070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:436243-436744 Neighboring gene RNA, 5S ribosomal pseudogene 462

    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
    • 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. A novel gene family induced by acute inflammation in endothelial cells. Warton K, et al. Gene, 2004 Nov 10. PMID 15527968
    2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
    3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    4. Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB. Li FL, et al. EMBO J, 2022 Sep 1. PMID 35844135, Free PMC Article
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (10) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1957

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    C2 calcium-dependent domain-containing protein 4C
    Names
    family with sequence similarity 148, member C
    nuclear-localized factor 3

    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_001136263.2 → NP_001129735.1  C2 calcium-dependent domain-containing protein 4C

      See identical proteins and their annotated locations for NP_001129735.1

      Status: VALIDATED

      Source sequence(s)
      AC008988
      Consensus CDS
      CCDS45890.1
      UniProtKB/Swiss-Prot
      Q8N3H7, Q8TF44
      Related
      ENSP00000328677.4, ENST00000332235.8
      Conserved Domains (1) summary
      cl14603
      Location:307 → 417
      C2; C2 domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      405445..409147 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527694.2 → XP_011525996.1  C2 calcium-dependent domain-containing protein 4C isoform X1

      Conserved Domains (1) summary
      cl14603
      Location:307 → 391
      C2; C2 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      353898..357600 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054319834.1 → XP_054175809.1  C2 calcium-dependent domain-containing protein 4C isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TF44.2 GenPept UniProtKB/Swiss-Prot:Q8TF44

    Gene LinkOut

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

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