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

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

    Summary

    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, Nov 2024]
    Expression
    Biased expression in testis (RPKM 5.0), fat (RPKM 0.9) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CCDC178 in Genome Data Viewer
    Location:
    18q12.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (32937406..33441040, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (33129211..33632807, complement)
    RS_2024_09 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    coiled-coil domain-containing protein 178

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001105528.4NP_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:143406
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    2. NM_001308126.3NP_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:143406
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    3. NM_001371120.1NP_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:143406
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    4. NM_001371121.1NP_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:143406
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    5. NM_198995.3NP_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:158776
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_011525951.2XP_011524253.1  coiled-coil domain-containing protein 178 isoform X1

      UniProtKB/TrEMBL
      A1L4G8
      Conserved Domains (1) summary
      COG1196
      Location:143406
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    2. XM_017025724.2XP_016881213.1  coiled-coil domain-containing protein 178 isoform X2

      UniProtKB/TrEMBL
      B7ZM04
    3. XM_017025725.1XP_016881214.1  coiled-coil domain-containing protein 178 isoform X2

      UniProtKB/TrEMBL
      B7ZM04
    4. XM_011525954.3XP_011524256.1  coiled-coil domain-containing protein 178 isoform X3

      Conserved Domains (1) summary
      COG1196
      Location:143406
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    5. XM_011525955.2XP_011524257.1  coiled-coil domain-containing protein 178 isoform X4

      Conserved Domains (1) summary
      COG1196
      Location:143406
      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_054318570.1XP_054174545.1  coiled-coil domain-containing protein 178 isoform X1

      UniProtKB/TrEMBL
      A1L4G8
    2. XM_054318572.1XP_054174547.1  coiled-coil domain-containing protein 178 isoform X2

      UniProtKB/TrEMBL
      B7ZM04
    3. XM_054318571.1XP_054174546.1  coiled-coil domain-containing protein 178 isoform X2

      UniProtKB/TrEMBL
      B7ZM04
    4. XM_054318573.1XP_054174548.1  coiled-coil domain-containing protein 178 isoform X3

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