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    CCDC24 coiled-coil domain containing 24 [ Homo sapiens (human) ]

    Gene ID: 149473, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC24provided by HGNC
    Official Full Name
    coiled-coil domain containing 24provided by HGNC
    Primary source
    HGNC:HGNC:28688
    See related
    Ensembl:ENSG00000159214 AllianceGenome:HGNC:28688
    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
    Summary
    Predicted to act upstream of or within blastocyst hatching. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in testis (RPKM 10.0), thyroid (RPKM 5.5) and 23 other tissues See more
    Orthologs
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    Genomic context

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    See CCDC24 in Genome Data Viewer
    Location:
    1p34.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43991599..43996528)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43862686..43867620)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (44457271..44462200)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44440619-44441451 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44443584-44444175 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44444176-44444766 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:44444767-44445358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44447723-44448312 Neighboring gene ATPase H+ transporting V0 subunit b Neighboring gene beta-1,4-galactosyltransferase 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 802 Neighboring gene Sharpr-MPRA regulatory region 11322 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44471356-44471562 Neighboring gene solute carrier family 6 member 9 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44476286-44476951 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44494509-44495068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:44495069-44495626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 804 Neighboring gene uncharacterized LOC107984948 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44496268-44496864 Neighboring gene uncharacterized LOC124904168 Neighboring gene VISTA enhancer hs1857 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:44507734-44507907 Neighboring gene uncharacterized LOC124904169 Neighboring gene KLF transcription factor 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 933 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 806

    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. BRCA2 mediates centrosome cohesion via an interaction with cytoplasmic dynein. Malik S, et al. Cell Cycle, 2016 Aug 17. PMID 27433848, Free PMC Article
    2. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. Camargo LM, et al. Mol Psychiatry, 2007 Jan. PMID 17043677
    3. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. Yachie N, et al. Mol Syst Biol, 2016 Apr 22. PMID 27107012, Free PMC Article
    4. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
    5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

    See all (12) 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

    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

    • MGC45441

    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 blastocyst hatching IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 24

    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_001349127.2 → NP_001336056.1  coiled-coil domain-containing protein 24 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL139220
      Conserved Domains (1) summary
      pfam15669
      Location:21 → 206
      CCDC24; Coiled-coil domain-containing protein 24 family

    2. NM_001349128.1 → NP_001336057.1  coiled-coil domain-containing protein 24 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL139220
      Conserved Domains (1) summary
      pfam15669
      Location:21 → 218
      CCDC24; Coiled-coil domain-containing protein 24 family

    3. NM_001349129.1 → NP_001336058.1  coiled-coil domain-containing protein 24 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL139220
      Conserved Domains (1) summary
      pfam15669
      Location:6 → 72
      CCDC24; Coiled-coil domain-containing protein 24 family

    4. NM_152499.4 → NP_689712.1  coiled-coil domain-containing protein 24 isoform 1

      See identical proteins and their annotated locations for NP_689712.1

      Status: VALIDATED

      Source sequence(s)
      AL139220, BC033868
      Consensus CDS
      CCDS507.1
      UniProtKB/Swiss-Prot
      Q6RWT2, Q8N4L8
      Related
      ENSP00000361392.3, ENST00000372318.8
      Conserved Domains (1) summary
      pfam15669
      Location:21 → 206
      CCDC24; Coiled-coil domain-containing protein 24 family

    RNA

    1. NR_146064.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) differs at the 5' end and lacks two internal exons compared to variant 1. This variant is represented as non-coding because use of the start codon used in variant renders the transcript a candidate for nonsense-mediated decay (NMD).
      Source sequence(s)
      AL139220, BU164878

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      43991599..43996528
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      43862686..43867620
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N4L8.1 GenPept UniProtKB/Swiss-Prot:Q8N4L8

    Gene LinkOut

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

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