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CCDC78 coiled-coil domain containing 78 [ Homo sapiens (human) ]

Gene ID: 124093, updated on 5-Mar-2024

Summary

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Official Symbol
CCDC78provided by HGNC
Official Full Name
coiled-coil domain containing 78provided by HGNC
Primary source
HGNC:HGNC:14153
See related
Ensembl:ENSG00000162004 MIM:614666; AllianceGenome:HGNC:14153
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
CNM4; JFP10; C16orf25; hsCCDC78
Summary
Involved in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation and skeletal muscle contraction. Located in several cellular components, including centriole; deuterosome; and sarcolemma. Implicated in centronuclear myopathy 4. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in lung (RPKM 2.8), spleen (RPKM 1.3) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
16p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (722582..726880, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (726756..731054, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (772582..776880, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6942 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10213 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10214 Neighboring gene F-box and leucine rich repeat protein 16 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:750057-750886 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:756390-757006 and GRCh37_chr16:757007-757622 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6944 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:764134-764732 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6945 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:765331-765928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:765929-766526 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:766527-767124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:769722-770429 Neighboring gene meteorin, glial cell differentiation regulator Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:770430-771136 Neighboring gene adenine nucleotide translocase lysine methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6949 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6950 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6951 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6952 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6953 Neighboring gene hydroxyacylglutathione hydrolase like Neighboring gene cytosolic iron-sulfur assembly component 3 Neighboring gene Sharpr-MPRA regulatory region 977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:790544-791139

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. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Majczenko K, et al. Am J Hum Genet, 2012 Aug 10. PMID 22818856, Free PMC Article
  2. Deuterosome-mediated centriole biogenesis. Klos Dehring DA, et al. Dev Cell, 2013 Oct 14. PMID 24075808, Free PMC Article
  3. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Daniels RJ, et al. Hum Mol Genet, 2001 Feb 15. PMID 11157797
  4. HEY1 functions are regulated by its phosphorylation at Ser-68. López-Mateo I, et al. Biosci Rep, 2016 Jul. PMID 27129302, Free PMC Article
  5. New genetic associations detected in a host response study to hepatitis B vaccine. Davila S, et al. Genes Immun, 2010 Apr. PMID 20237496

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
    Title: Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
Submit: New GeneRIF Correction

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

Associated conditions

Description Tests
Congenital myopathy with internal nuclei and atypical cores
MedGen: C4707232 OMIM: 614807 GeneReviews: Not available
Compare labs

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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Homology

Clone Names

  • FLJ34512

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell projection organization IEA
Inferred from Electronic Annotation
more info
  
involved_in de novo centriole assembly involved in multi-ciliated epithelial cell differentiation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in skeletal muscle contraction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centriole IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in deuterosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcolemma IDA
Inferred from Direct Assay
more info
 PubMed 
located_in sarcoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
coiled-coil domain-containing protein 78

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.

Genomic

  1. NG_032932.1 RefSeqGene

    Range
    5031..8892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_705

mRNA and Protein(s)

  1. NM_001031737.3 → NP_001026907.2  coiled-coil domain-containing protein 78 isoform 1

    See identical proteins and their annotated locations for NP_001026907.2

    Status: VALIDATED

    Source sequence(s)
    BC042110, Z98258
    Consensus CDS
    CCDS32353.1
    UniProtKB/Swiss-Prot
    A2IDD5, B4DNY4, B4E1U6, Q05BY7, Q05CA0, Q6T2V5, Q6ZR33, Q8IUR3, Q8NAY7, Q96S12
    Related
    ENSP00000293889.6, ENST00000293889.10
    Conserved Domains (1) summary
    pfam14739
    Location:56 → 164
    DUF4472; Domain of unknown function (DUF4472)

  2. NM_001378030.1 → NP_001364959.1  coiled-coil domain-containing protein 78 isoform 3

    Status: VALIDATED

    Source sequence(s)
    Z98258
    Consensus CDS
    CCDS92076.1
    UniProtKB/TrEMBL
    H3BLT8
    Related
    ENSP00000316851.5, ENST00000345165.10
    Conserved Domains (2) summary
    TIGR02168
    Location:80 → 313
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam14739
    Location:56 → 164
    DUF4472; Domain of unknown function (DUF4472)

  3. NM_001378031.1 → NP_001364960.1  coiled-coil domain-containing protein 78 isoform 4

    Status: VALIDATED

    Source sequence(s)
    Z98258
    Conserved Domains (2) summary
    TIGR02168
    Location:80 → 384
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam14739
    Location:56 → 164
    DUF4472; Domain of unknown function (DUF4472)

  4. NM_001378033.1 → NP_001364962.1  coiled-coil domain-containing protein 78 isoform 5

    Status: VALIDATED

    Source sequence(s)
    Z98258

RNA

  1. NR_165382.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258

  2. NR_165383.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258

  3. NR_165384.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258
    Related
    ENST00000466708.5

  4. NR_165385.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258

  5. NR_165386.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    Z98258
    Related
    ENST00000463539.5

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    722582..726880 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047433606.1 → XP_047289562.1  coiled-coil domain-containing protein 78 isoform X22

  2. XM_047433605.1 → XP_047289561.1  coiled-coil domain-containing protein 78 isoform X21

  3. XM_047433604.1 → XP_047289560.1  coiled-coil domain-containing protein 78 isoform X19

  4. XM_047433603.1 → XP_047289559.1  coiled-coil domain-containing protein 78 isoform X19

  5. XM_011522370.2 → XP_011520672.1  coiled-coil domain-containing protein 78 isoform X20

    Conserved Domains (1) summary
    pfam14739
    Location:56 → 90
    DUF4472; Domain of unknown function (DUF4472)

  6. XM_006720843.5 → XP_006720906.1  coiled-coil domain-containing protein 78 isoform X18

    Related
    ENST00000485091.5
    Conserved Domains (1) summary
    pfam14739
    Location:56 → 164
    DUF4472; Domain of unknown function (DUF4472)

  7. XM_011522369.2 → XP_011520671.1  coiled-coil domain-containing protein 78 isoform X17

    Conserved Domains (1) summary
    pfam14739
    Location:56 → 164
    DUF4472; Domain of unknown function (DUF4472)

  8. XM_011522366.2 → XP_011520668.1  coiled-coil domain-containing protein 78 isoform X12

    Conserved Domains (1) summary
    pfam14739
    Location:56 → 235
    DUF4472; Domain of unknown function (DUF4472)

  9. XM_011522368.2 → XP_011520670.1  coiled-coil domain-containing protein 78 isoform X16

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 251
    DUF4472; Domain of unknown function (DUF4472)

  10. XM_011522367.2 → XP_011520669.1  coiled-coil domain-containing protein 78 isoform X15

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 164
    DUF4472; Domain of unknown function (DUF4472)

  11. XM_047433602.1 → XP_047289558.1  coiled-coil domain-containing protein 78 isoform X14

  12. XM_006720838.2 → XP_006720901.1  coiled-coil domain-containing protein 78 isoform X13

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 238
    DUF4472; Domain of unknown function (DUF4472)

  13. XM_011522365.2 → XP_011520667.1  coiled-coil domain-containing protein 78 isoform X11

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 238
    DUF4472; Domain of unknown function (DUF4472)

  14. XM_011522360.2 → XP_011520662.1  coiled-coil domain-containing protein 78 isoform X5

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 298
    DUF4472; Domain of unknown function (DUF4472)

  15. XM_011522359.2 → XP_011520661.1  coiled-coil domain-containing protein 78 isoform X4

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 298
    DUF4472; Domain of unknown function (DUF4472)

  16. XM_011522357.2 → XP_011520659.1  coiled-coil domain-containing protein 78 isoform X2

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 309
    DUF4472; Domain of unknown function (DUF4472)

  17. XM_011522364.2 → XP_011520666.1  coiled-coil domain-containing protein 78 isoform X10

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 309
    DUF4472; Domain of unknown function (DUF4472)

  18. XM_011522363.2 → XP_011520665.1  coiled-coil domain-containing protein 78 isoform X9

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 309
    DUF4472; Domain of unknown function (DUF4472)

  19. XM_011522362.2 → XP_011520664.1  coiled-coil domain-containing protein 78 isoform X8

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 309
    DUF4472; Domain of unknown function (DUF4472)

  20. XM_017022929.2 → XP_016878418.1  coiled-coil domain-containing protein 78 isoform X7

  21. XM_011522361.2 → XP_011520663.1  coiled-coil domain-containing protein 78 isoform X6

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 309
    DUF4472; Domain of unknown function (DUF4472)

  22. XM_011522358.3 → XP_011520660.1  coiled-coil domain-containing protein 78 isoform X3

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 309
    DUF4472; Domain of unknown function (DUF4472)

  23. XM_011522356.2 → XP_011520658.1  coiled-coil domain-containing protein 78 isoform X1

    Conserved Domains (1) summary
    pfam14739
    Location:130 → 309
    DUF4472; Domain of unknown function (DUF4472)

  24. XM_047433607.1 → XP_047289563.1  coiled-coil domain-containing protein 78 isoform X23

    Related
    ENST00000460023.5

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    726756..731054 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054379584.1 → XP_054235559.1  coiled-coil domain-containing protein 78 isoform X22

  2. XM_054379583.1 → XP_054235558.1  coiled-coil domain-containing protein 78 isoform X21

  3. XM_054379582.1 → XP_054235557.1  coiled-coil domain-containing protein 78 isoform X19

  4. XM_054379581.1 → XP_054235556.1  coiled-coil domain-containing protein 78 isoform X20

  5. XM_054379580.1 → XP_054235555.1  coiled-coil domain-containing protein 78 isoform X18

  6. XM_054379579.1 → XP_054235554.1  coiled-coil domain-containing protein 78 isoform X17

  7. XM_054379574.1 → XP_054235549.1  coiled-coil domain-containing protein 78 isoform X12

  8. XM_054379578.1 → XP_054235553.1  coiled-coil domain-containing protein 78 isoform X16

  9. XM_054379577.1 → XP_054235552.1  coiled-coil domain-containing protein 78 isoform X15

  10. XM_054379576.1 → XP_054235551.1  coiled-coil domain-containing protein 78 isoform X14

  11. XM_054379575.1 → XP_054235550.1  coiled-coil domain-containing protein 78 isoform X13

  12. XM_054379573.1 → XP_054235548.1  coiled-coil domain-containing protein 78 isoform X11

  13. XM_054379567.1 → XP_054235542.1  coiled-coil domain-containing protein 78 isoform X5

  14. XM_054379566.1 → XP_054235541.1  coiled-coil domain-containing protein 78 isoform X4

  15. XM_054379564.1 → XP_054235539.1  coiled-coil domain-containing protein 78 isoform X2

  16. XM_054379572.1 → XP_054235547.1  coiled-coil domain-containing protein 78 isoform X10

  17. XM_054379571.1 → XP_054235546.1  coiled-coil domain-containing protein 78 isoform X9

  18. XM_054379570.1 → XP_054235545.1  coiled-coil domain-containing protein 78 isoform X8

  19. XM_054379569.1 → XP_054235544.1  coiled-coil domain-containing protein 78 isoform X7

  20. XM_054379568.1 → XP_054235543.1  coiled-coil domain-containing protein 78 isoform X6

  21. XM_054379565.1 → XP_054235540.1  coiled-coil domain-containing protein 78 isoform X3

  22. XM_054379563.1 → XP_054235538.1  coiled-coil domain-containing protein 78 isoform X1

  23. XM_054379585.1 → XP_054235560.1  coiled-coil domain-containing protein 78 isoform X23

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173476.2: Suppressed sequence

    Description
    NM_173476.2: This RefSeq was suppressed because insufficient evidence exists for the exon combination of this transcript variant, which was based on AK128538.1.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A2IDD5.1 GenPept UniProtKB/Swiss-Prot:A2IDD5

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