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    CCDC158 coiled-coil domain containing 158 [ Homo sapiens (human) ]

    Gene ID: 339965, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC158provided by HGNC
    Official Full Name
    coiled-coil domain containing 158provided by HGNC
    Primary source
    HGNC:HGNC:26374
    See related
    Ensembl:ENSG00000163749 AllianceGenome:HGNC:26374
    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
    Expression
    Restricted expression toward testis (RPKM 16.4) See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    4q21.1
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (76313039..76421869, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (79653758..79762651, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (77234192..77342294, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377286 Neighboring gene FAM47E-STBD1 readthrough Neighboring gene family with sequence similarity 47 member E Neighboring gene NFE2L2 motif-containing MPRA enhancer 290 Neighboring gene starch binding domain 1 Neighboring gene RNA, U6 small nuclear 1000, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:77301727-77302231 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:77309531-77310030 Neighboring gene sorting nexin 5 pseudogene 1 Neighboring gene small nucleolar RNA SNORD50 Neighboring gene ribosomal protein L36a pseudogene 18 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:77379997-77381196 Neighboring gene shroom family member 3 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:77398744-77399474 Neighboring gene RNA, U6 small nuclear 145, pseudogene Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:77479863-77480494 Neighboring gene microRNA 4450

    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. New loci associated with kidney function and chronic kidney disease. Köttgen A, et al. Nat Genet, 2010 May. PMID 20383146, Free PMC Article
    2. Insight into hepatocellular carcinogenesis at transcriptome level by comparing gene expression profiles of hepatocellular carcinoma with those of corresponding noncancerous liver. Xu XR, et al. Proc Natl Acad Sci U S A, 2001 Dec 18. PMID 11752456, Free PMC Article
    3. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. Vandamme J, et al. Mol Cell Proteomics, 2011 Apr. PMID 21282530, 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. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514

    See all (13) 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
    New loci associated with kidney function and chronic kidney disease.
    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

    • FLJ25770, MGC35086

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 158

    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_001042784.1 → NP_001036249.1  coiled-coil domain-containing protein 158 isoform 2

      See identical proteins and their annotated locations for NP_001036249.1

      Status: VALIDATED

      Source sequence(s)
      BC035224, BC086869
      Consensus CDS
      CCDS43242.1
      UniProtKB/Swiss-Prot
      Q5M9N0, Q8IYQ1, Q8N7D4, Q8N7E3
      Related
      ENSP00000373566.2, ENST00000388914.7
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1113
      CCDC158; Coiled-coil domain-containing protein 158

    2. NM_001394954.1 → NP_001381883.1  coiled-coil domain-containing protein 158 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC034139, AC096743
      Consensus CDS
      CCDS93551.1
      UniProtKB/TrEMBL
      A0A804HIY6
      Related
      ENSP00000507278.1, ENST00000682701.1
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    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_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      76313039..76421869 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011531911.2 → XP_011530213.1  coiled-coil domain-containing protein 158 isoform X1

      See identical proteins and their annotated locations for XP_011530213.1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    2. XM_011531917.2 → XP_011530219.1  coiled-coil domain-containing protein 158 isoform X4

      See identical proteins and their annotated locations for XP_011530219.1

      Conserved Domains (1) summary
      pfam15921
      Location:12 → 1035
      CCDC158; Coiled-coil domain-containing protein 158

    3. XM_011531909.3 → XP_011530211.1  coiled-coil domain-containing protein 158 isoform X1

      See identical proteins and their annotated locations for XP_011530211.1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    4. XM_011531912.3 → XP_011530214.1  coiled-coil domain-containing protein 158 isoform X1

      See identical proteins and their annotated locations for XP_011530214.1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    5. XM_011531914.3 → XP_011530216.1  coiled-coil domain-containing protein 158 isoform X1

      See identical proteins and their annotated locations for XP_011530216.1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    6. XM_011531915.3 → XP_011530217.1  coiled-coil domain-containing protein 158 isoform X3

      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1066
      CCDC158; Coiled-coil domain-containing protein 158

    7. XM_005262974.5 → XP_005263031.1  coiled-coil domain-containing protein 158 isoform X2

      See identical proteins and their annotated locations for XP_005263031.1

      UniProtKB/Swiss-Prot
      Q5M9N0, Q8IYQ1, Q8N7D4, Q8N7E3
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1113
      CCDC158; Coiled-coil domain-containing protein 158

    8. XM_011531908.3 → XP_011530210.1  coiled-coil domain-containing protein 158 isoform X1

      See identical proteins and their annotated locations for XP_011530210.1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    9. XM_017008160.2 → XP_016863649.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    10. XM_011531910.4 → XP_011530212.1  coiled-coil domain-containing protein 158 isoform X1

      See identical proteins and their annotated locations for XP_011530212.1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    11. XM_011531913.1 → XP_011530215.1  coiled-coil domain-containing protein 158 isoform X1

      See identical proteins and their annotated locations for XP_011530215.1

      UniProtKB/TrEMBL
      A0A804HIY6
      Conserved Domains (1) summary
      pfam15921
      Location:1 → 1117
      CCDC158; Coiled-coil domain-containing protein 158

    RNA

    1. XR_938729.3 RNA Sequence

    2. XR_938730.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      79653758..79762651 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349915.1 → XP_054205890.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    2. XM_054349924.1 → XP_054205899.1  coiled-coil domain-containing protein 158 isoform X4

    3. XM_054349917.1 → XP_054205892.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    4. XM_054349919.1 → XP_054205894.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    5. XM_054349921.1 → XP_054205896.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    6. XM_054349923.1 → XP_054205898.1  coiled-coil domain-containing protein 158 isoform X3

    7. XM_054349922.1 → XP_054205897.1  coiled-coil domain-containing protein 158 isoform X2

      UniProtKB/Swiss-Prot
      Q5M9N0, Q8IYQ1, Q8N7D4, Q8N7E3

    8. XM_054349916.1 → XP_054205891.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    9. XM_054349918.1 → XP_054205893.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    10. XM_054349914.1 → XP_054205889.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    11. XM_054349920.1 → XP_054205895.1  coiled-coil domain-containing protein 158 isoform X1

      UniProtKB/TrEMBL
      A0A804HIY6

    RNA

    1. XR_008486975.1 RNA Sequence

    2. XR_008486976.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_178555.3: Suppressed sequence

      Description
      NM_178555.3: This RefSeq was permanently suppressed because it has a none consensus splice site that does not have enough supporting evidence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5M9N0.2 GenPept UniProtKB/Swiss-Prot:Q5M9N0

    Gene LinkOut

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

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