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

Gene ID: 388849, updated on 16-Mar-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
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Genomic context

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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

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