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CCDC178 coiled-coil domain containing 178 [ Homo sapiens (human) ]

Gene ID: 374864, updated on 3-Apr-2024

Summary

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Official Symbol
CCDC178provided by HGNC
Official Full Name
coiled-coil domain containing 178provided by HGNC
Primary source
HGNC:HGNC:29588
See related
Ensembl:ENSG00000166960 AllianceGenome:HGNC:29588
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
Also known as
C18orf34
Summary
Located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in testis (RPKM 5.0), fat (RPKM 0.9) and 5 other tissues See more
Orthologs
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Genomic context

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Location:
18q12.1
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (32937406..33441040, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (33129211..33632807, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (30517370..31021004, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372058 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:30466839-30468038 Neighboring gene uncharacterized LOC107985186 Neighboring gene uncharacterized LOC105372059 Neighboring gene Sharpr-MPRA regulatory region 1696 Neighboring gene NANOG hESC enhancer GRCh37_chr18:30880684-30881216 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:31003580-31004779 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:31158512-31159499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:31157523-31158511 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:31164967-31165678 Neighboring gene ASXL transcriptional regulator 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13213 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9391 Neighboring gene uncharacterized LOC124904347 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:31416777-31417720 Neighboring gene NANOG hESC enhancer GRCh37_chr18:31583567-31584247 Neighboring gene nucleolar protein 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9392 Neighboring gene uncharacterized LOC124904279

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. CCDC178 promotes hepatocellular carcinoma metastasis through modulation of anoikis. Hu X, et al. Oncogene, 2017 Jul 13. PMID 28319061
  2. Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways. Sigg MA, et al. Dev Cell, 2017 Dec 18. PMID 29257953, Free PMC Article
  3. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. Tao S, et al. Carcinogenesis, 2012 Mar. PMID 22219177, Free PMC Article
  4. Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study. Yu B, et al. Genet Epidemiol, 2013 Dec. PMID 23934736, Free PMC Article
  5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CCDC178 as a novel candidate oncogene involved in anoikis resistance and hepatocellular carcinoma (HCC) metastasis, and raise the possibility that CCDC178 may be a new therapeutic target for HCC.
    Title: CCDC178 promotes hepatocellular carcinoma metastasis through modulation of anoikis.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog
Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
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

  • FLJ44050, MGC111498, MGC163407

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in ciliary basal body IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
coiled-coil domain-containing protein 178

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_001105528.4 → NP_001098998.1  coiled-coil domain-containing protein 178 isoform 1

    See identical proteins and their annotated locations for NP_001098998.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 3, resulting in a shorter protein (isoform 1), compared to isoform 3.
    Source sequence(s)
    AC025888, AC104956, AK000027, AK126038, BC091517, BC130535
    Consensus CDS
    CCDS42424.1
    UniProtKB/Swiss-Prot
    A6NDC6, J3KS92, Q5BJE1, Q6ZP67, Q6ZU20
    UniProtKB/TrEMBL
    A1L4G8
    Related
    ENSP00000372576.3, ENST00000383096.8
    Conserved Domains (1) summary
    COG1196
    Location:143 → 406
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  2. NM_001308126.3 → NP_001295055.1  coiled-coil domain-containing protein 178 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AC025888, AC104956, AC116607, AK000027, AK126038, BC091517, BC144178
    Consensus CDS
    CCDS77174.1
    UniProtKB/TrEMBL
    B7ZM04, F8W7A7
    Related
    ENSP00000463254.1, ENST00000583930.5
    Conserved Domains (1) summary
    COG1196
    Location:143 → 406
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  3. NM_001371120.1 → NP_001358049.1  coiled-coil domain-containing protein 178 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC025888, AC104956, AC116607, AK000027, BC091517, BC144178
    Consensus CDS
    CCDS77174.1
    UniProtKB/TrEMBL
    B7ZM04, F8W7A7
    Conserved Domains (1) summary
    COG1196
    Location:143 → 406
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  4. NM_001371121.1 → NP_001358050.1  coiled-coil domain-containing protein 178 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC025888, AC104956, AC116607, AK000027, BC091517, BC144178
    Consensus CDS
    CCDS77174.1
    UniProtKB/TrEMBL
    B7ZM04, F8W7A7
    Conserved Domains (1) summary
    COG1196
    Location:143 → 406
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  5. NM_198995.3 → NP_945346.2  coiled-coil domain-containing protein 178 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks two alternate in-frame exons in the coding region, compared to variant 3, resulting in a shorter protein (isoform 2), compared to isoform 3.
    Source sequence(s)
    AC025888, AC104956, AC116607, AK000027, AK126038, BC091517, BC130535
    Consensus CDS
    CCDS11906.1
    UniProtKB/TrEMBL
    A1L4G8
    Related
    ENSP00000300227.8, ENST00000300227.12
    Conserved Domains (1) summary
    COG1196
    Location:158 → 776
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    32937406..33441040 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525951.2 → XP_011524253.1  coiled-coil domain-containing protein 178 isoform X1

    UniProtKB/TrEMBL
    A1L4G8
    Conserved Domains (1) summary
    COG1196
    Location:143 → 406
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  2. XM_017025724.2 → XP_016881213.1  coiled-coil domain-containing protein 178 isoform X2

    UniProtKB/TrEMBL
    B7ZM04

  3. XM_017025725.1 → XP_016881214.1  coiled-coil domain-containing protein 178 isoform X2

    UniProtKB/TrEMBL
    B7ZM04

  4. XM_011525954.3 → XP_011524256.1  coiled-coil domain-containing protein 178 isoform X3

    Conserved Domains (1) summary
    COG1196
    Location:143 → 406
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

  5. XM_011525955.2 → XP_011524257.1  coiled-coil domain-containing protein 178 isoform X4

    Conserved Domains (1) summary
    COG1196
    Location:143 → 406
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    33129211..33632807 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318570.1 → XP_054174545.1  coiled-coil domain-containing protein 178 isoform X1

  2. XM_054318572.1 → XP_054174547.1  coiled-coil domain-containing protein 178 isoform X2

  3. XM_054318571.1 → XP_054174546.1  coiled-coil domain-containing protein 178 isoform X2

  4. XM_054318573.1 → XP_054174548.1  coiled-coil domain-containing protein 178 isoform X3

  5. XM_054318574.1 → XP_054174549.1  coiled-coil domain-containing protein 178 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5BJE1.3 GenPept UniProtKB/Swiss-Prot:Q5BJE1

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