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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
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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: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 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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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.

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