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

Gene ID: 149473, updated on 5-Mar-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, Apr 2022]
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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Location:
1p34.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (43991599..43996528)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (43862686..43867620)
105.20220307 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 (11) 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)

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

  • 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_2023_10

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

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