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    CCDC32 coiled-coil domain containing 32 [ Homo sapiens (human) ]

    Gene ID: 90416, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC32provided by HGNC
    Official Full Name
    coiled-coil domain containing 32provided by HGNC
    Primary source
    HGNC:HGNC:28295
    See related
    Ensembl:ENSG00000128891 MIM:618941; AllianceGenome:HGNC:28295
    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
    CFNDS; C15orf57
    Summary
    Involved in head development and regulation of clathrin-dependent endocytosis. Part of clathrin-coated pit. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.7), ovary (RPKM 6.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC32 in Genome Data Viewer
    Location:
    15q15.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (40520993..40565042, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (38328359..38370734, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (40813192..40857241, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6336 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40764047-40764950 Neighboring gene carbohydrate sulfotransferase 14 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40781343-40781994 Neighboring gene ribosomal protein L9 pseudogene 27 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6337 Neighboring gene Sharpr-MPRA regulatory region 12089 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9246 Neighboring gene RNA, U6 small nuclear 516, pseudogene Neighboring gene mitochondrial ribosomal protein L42 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6338 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9248 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:40846211-40846831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9250 Neighboring gene Sharpr-MPRA regulatory region 4500 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:40859416-40859595 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9251 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:40861831-40862330 Neighboring gene RNA pseudouridine synthase domain containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6339 Neighboring gene tRNA-Ser (anticodon GCT) 4-2

    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. A genome-wide atlas of co-essential modules assigns function to uncharacterized genes. Wainberg M, et al. Nat Genet, 2021 May. PMID 33859415, Free PMC Article
    2. Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. Harel T, et al. Hum Mol Genet, 2020 Jun 3. PMID 32307552, Free PMC Article
    3. Yeast two-hybrid screening of proteins interacting with plasmin receptor subunit: C-terminal fragment of annexin A2. Li Q, et al. Acta Pharmacol Sin, 2011 Nov. PMID 21963895, Free PMC Article
    4. Identification of cellular factors binding to acetylated HIV-1 integrase. Allouch A, et al. Amino Acids, 2011 Nov. PMID 20016921
    5. Sequence identification of 2,375 human brain genes. Adams MD, et al. Nature, 1992 Feb 13. PMID 1538749

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
      Title: Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies.
    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
    Cardiofacioneurodevelopmental syndrome
    MedGen: C5436852 OMIM: 619123 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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol Using acetylated HIV-1 IN as bait in yeast two-hybrid screening identifies CCDC32 as IN-binding partner PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25915, MGC20481

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cilium organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cilium organization ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in head development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of clathrin-dependent endocytosis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in clathrin-coated pit IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 32
    Names
    uncharacterized protein C15orf57

    NCBI Reference Sequences (RefSeq)

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    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_001080791.4 → NP_001074260.2  coiled-coil domain-containing protein 32 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS10060.1
      UniProtKB/Swiss-Prot
      A8KAL4, Q86TC4, Q8N788, Q8NAR7, Q9BV29
      UniProtKB/TrEMBL
      H0YN78
      Related
      ENSP00000452773.1, ENST00000558750.5
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 166
      CCDC32; Coiled-coil domain containing 32

    2. NM_001080792.4 → NP_001074261.1  coiled-coil domain-containing protein 32 isoform 2

      See identical proteins and their annotated locations for NP_001074261.1

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS10060.1
      UniProtKB/Swiss-Prot
      A8KAL4, Q86TC4, Q8N788, Q8NAR7, Q9BV29
      UniProtKB/TrEMBL
      H0YN78
      Related
      ENSP00000397515.2, ENST00000416810.7
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 166
      CCDC32; Coiled-coil domain containing 32

    3. NM_001289132.2 → NP_001276061.1  coiled-coil domain-containing protein 32 isoform 3

      See identical proteins and their annotated locations for NP_001276061.1

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS73706.1
      UniProtKB/TrEMBL
      H0YM19
      Related
      ENSP00000454049.1, ENST00000561011.5
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 133
      CCDC32; Coiled-coil domain containing 32

    4. NM_001382434.1 → NP_001369363.1  coiled-coil domain-containing protein 32 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS10060.1
      UniProtKB/Swiss-Prot
      A8KAL4, Q86TC4, Q8N788, Q8NAR7, Q9BV29
      UniProtKB/TrEMBL
      H0YN78
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 166
      CCDC32; Coiled-coil domain containing 32

    5. NM_001382435.1 → NP_001369364.1  coiled-coil domain-containing protein 32 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS10060.1
      UniProtKB/Swiss-Prot
      A8KAL4, Q86TC4, Q8N788, Q8NAR7, Q9BV29
      UniProtKB/TrEMBL
      H0YN78
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 166
      CCDC32; Coiled-coil domain containing 32

    6. NM_001382436.1 → NP_001369365.1  coiled-coil domain-containing protein 32 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS10060.1
      UniProtKB/Swiss-Prot
      A8KAL4, Q86TC4, Q8N788, Q8NAR7, Q9BV29
      UniProtKB/TrEMBL
      H0YN78
      Related
      ENSP00000453899.1, ENST00000559103.1
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 166
      CCDC32; Coiled-coil domain containing 32

    7. NM_001382437.1 → NP_001369366.1  coiled-coil domain-containing protein 32 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC091045
      UniProtKB/TrEMBL
      A0A8V8TLS2
      Related
      ENSP00000453544.1, ENST00000559911.5
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 133
      CCDC32; Coiled-coil domain containing 32

    8. NM_001382438.1 → NP_001369367.1  coiled-coil domain-containing protein 32 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC091045
      UniProtKB/TrEMBL
      A0A8V8TLS2, H0YLI5
      Related
      ENSP00000453221.1, ENST00000558113.5
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 133
      CCDC32; Coiled-coil domain containing 32

    9. NM_001382439.1 → NP_001369368.1  coiled-coil domain-containing protein 32 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC091045
      UniProtKB/TrEMBL
      H0YM19
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 133
      CCDC32; Coiled-coil domain containing 32

    10. NM_001382440.1 → NP_001369369.1  coiled-coil domain-containing protein 32 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS73706.1
      UniProtKB/TrEMBL
      H0YM19
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 133
      CCDC32; Coiled-coil domain containing 32

    11. NM_001382441.1 → NP_001369370.1  coiled-coil domain-containing protein 32 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS73706.1
      UniProtKB/TrEMBL
      H0YM19
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 133
      CCDC32; Coiled-coil domain containing 32

    12. NM_001382442.1 → NP_001369371.1  coiled-coil domain-containing protein 32 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC091045
      UniProtKB/TrEMBL
      H0YN78
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 172
      CCDC32; Coiled-coil domain containing 32

    13. NM_052849.5 → NP_443081.1  coiled-coil domain-containing protein 32 isoform 2

      See identical proteins and their annotated locations for NP_443081.1

      Status: VALIDATED

      Source sequence(s)
      AC091045
      Consensus CDS
      CCDS10060.1
      UniProtKB/Swiss-Prot
      A8KAL4, Q86TC4, Q8N788, Q8NAR7, Q9BV29
      UniProtKB/TrEMBL
      H0YN78
      Related
      ENSP00000350695.3, ENST00000358005.7
      Conserved Domains (1) summary
      pfam14989
      Location:18 → 166
      CCDC32; Coiled-coil domain containing 32

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      40520993..40565042 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      38328359..38370734 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BV29.2 GenPept UniProtKB/Swiss-Prot:Q9BV29

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools