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    CCDC188 coiled-coil domain containing 188 [ Homo sapiens (human) ]

    Gene ID: 388849, updated on 17-Jun-2024

    Summary

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    Official Symbol
    CCDC188provided by HGNC
    Official Full Name
    coiled-coil domain containing 188provided by HGNC
    Primary source
    HGNC:HGNC:51899
    See related
    Ensembl:ENSG00000234409 AllianceGenome:HGNC:51899
    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 be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis (RPKM 5.7), spleen (RPKM 0.8) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC188 in Genome Data Viewer
    Location:
    22q11.21
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (20148416..20151055, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (20527451..20534406, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20135939..20138578, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene RAN binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18671 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13477 Neighboring gene small nucleolar RNA, H/ACA box 77B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20119547-20120200 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20125107-20125706 Neighboring gene zinc finger DHHC-type palmitoyltransferase 8 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13481 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13482 Neighboring gene Sharpr-MPRA regulatory region 11686 Neighboring gene enhancer-blocking element 22-3 upstream of CCDC188 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20164314-20165307 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:20166736-20166900 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20174169-20174706 Neighboring gene CRISPRi-validated cis-regulatory element chr22.431 Neighboring gene long intergenic non-protein coding RNA 2891 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20190821-20191416 Neighboring gene uncharacterized LOC105372862 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:20195420-20195950 Neighboring gene long intergenic non-protein coding RNA 896

    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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    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

    Pathways from PubChem

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    General gene information

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    Homology

    Gene Ontology Provided by GOA

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

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 188

    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_001365892.2 → NP_001352821.1  coiled-coil domain-containing protein 188

      Status: VALIDATED

      Source sequence(s)
      AC006547
      Consensus CDS
      CCDS93123.1
      UniProtKB/Swiss-Prot
      H7C350
      Related
      ENSP00000409542.2, ENST00000439765.4
      Conserved Domains (2) summary
      pfam14992
      Location:359 → 401
      TMCO5; TMCO5 family
      cl21462
      Location:158 → 184
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      20148416..20151055 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261241.4 → XP_005261298.1  coiled-coil domain-containing protein 188 isoform X7

      Conserved Domains (1) summary
      pfam11068
      Location:192 → 267
      YlqD; YlqD protein

    2. XM_047441359.1 → XP_047297315.1  coiled-coil domain-containing protein 188 isoform X3

    3. XM_011530171.3 → XP_011528473.1  coiled-coil domain-containing protein 188 isoform X6

      Conserved Domains (2) summary
      pfam14335
      Location:208 → 286
      DUF4391; Domain of unknown function (DUF4391)
      cl21462
      Location:158 → 184
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    4. XM_005261239.4 → XP_005261296.1  coiled-coil domain-containing protein 188 isoform X5

      Conserved Domains (1) summary
      cl21462
      Location:158 → 184
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    5. XM_005261238.4 → XP_005261295.1  coiled-coil domain-containing protein 188 isoform X4

      Conserved Domains (1) summary
      cl21462
      Location:158 → 184
      bZIP; Basic leucine zipper (bZIP) domain of bZIP transcription factors: a DNA-binding and dimerization domain

    6. XM_047441357.1 → XP_047297313.1  coiled-coil domain-containing protein 188 isoform X1

    7. XM_047441358.1 → XP_047297314.1  coiled-coil domain-containing protein 188 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      20527451..20534406 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325597.1 → XP_054181572.1  coiled-coil domain-containing protein 188 isoform X1

    2. XM_054325603.1 → XP_054181578.1  coiled-coil domain-containing protein 188 isoform X7

    3. XM_054325599.1 → XP_054181574.1  coiled-coil domain-containing protein 188 isoform X3

    4. XM_054325604.1 → XP_054181579.1  coiled-coil domain-containing protein 188 isoform X8

    5. XM_054325602.1 → XP_054181577.1  coiled-coil domain-containing protein 188 isoform X6

    6. XM_054325601.1 → XP_054181576.1  coiled-coil domain-containing protein 188 isoform X5

    7. XM_054325600.1 → XP_054181575.1  coiled-coil domain-containing protein 188 isoform X4

    8. XM_054325598.1 → XP_054181573.1  coiled-coil domain-containing protein 188 isoform X2

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001243537.1: Suppressed sequence

      Description
      NM_001243537.1: This RefSeq was removed because the CDS was partial.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    H7C350.2 GenPept UniProtKB/Swiss-Prot:H7C350

    Gene LinkOut

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

    Molecular Biology Databases
    Research Materials