Aliases for CCDC32 Gene

Aliases for CCDC32 Gene

  • Coiled-Coil Domain Containing 32 2 3 5
  • Coiled-Coil Domain-Containing Protein 32 3 4
  • C15orf57 3 4
  • Chromosome 15 Open Reading Frame 57 2
  • Uncharacterized Protein C15orf57 3
  • MGC20481 2
  • CCDC32 5
  • CFNDS 3

External Ids for CCDC32 Gene

Previous HGNC Symbols for CCDC32 Gene

  • C15orf57

Previous GeneCards Identifiers for CCDC32 Gene

  • GC15M038611
  • GC15M038632

Summaries for CCDC32 Gene

GeneCards Summary for CCDC32 Gene

CCDC32 (Coiled-Coil Domain Containing 32) is a Protein Coding gene. Diseases associated with CCDC32 include Cardiofacioneurodevelopmental Syndrome.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC32 Gene

Genomics for CCDC32 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC32 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J040563 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 304.5 +0.4 431 3.3 SP1 MYC NCOR1 IKZF1 ZNF600 POLR2A CHD4 YY1 MXD4 CTCF CCDC32 lnc-RMDN3-5 RMDN3 lnc-RMDN3-6 CHST14
GH15J040568 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 54.4 -4.7 -4722 2.4 SP1 ZNF207 MYC POLR2A BRCA1 ZBTB10 YY1 MXD4 SMAD5 SIN3A HSALNG0105265 RPUSD2 CCDC32 RMDN3 THBS1 KNL1
GH15J040592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 48.8 -29.5 -29499 3.3 SP1 ZNF207 ZNF600 SIX5 JUND ZNF580 ZNF592 ATF2 CEBPA POLR3G KNL1 TRS-GCT4-2 piR-34439-002 CCDC32 INO80 DNAJC17 ENSG00000259211 RMDN3 BMF RAD51-AS1
GH15J040693 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 40.4 -130.2 -130213 3.5 BCLAF1 SP1 MYC ZNF600 SIX5 POLR2A ZNF10 ZSCAN16 BRCA1 NFIC RAD51 RAD51-AS1 CCDC32 ENSG00000259211 BUB1B INO80 RMDN3 DNAJC17 KNL1 KNSTRN
GH15J040589 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 65.8 -25.6 -25619 2.6 BCLAF1 ZNF654 IKZF1 ZNF580 ZMYM3 CEBPA YY1 CTCF DEK TRIM22 CCDC32 RAD51 INO80 ENSG00000259211 BAHD1 DNAJC17 RAD51-AS1 RMDN3 GCHFR OIP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC32 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC32

Genomic Locations for CCDC32 Gene

Latest Assembly
chr15:40,520,993-40,565,057
(GRCh38/hg38)
Size:
44,065 bases
Orientation:
Minus strand

Previous Assembly
chr15:40,813,192-40,857,241
(GRCh37/hg19 by Entrez Gene)
Size:
44,050 bases
Orientation:
Minus strand

chr15:40,820,882-40,857,256
(GRCh37/hg19 by Ensembl)
Size:
36,375 bases
Orientation:
Minus strand

Genomic View for CCDC32 Gene

Genes around CCDC32 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC32 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC32 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC32 Gene

Proteins for CCDC32 Gene

  • Protein details for CCDC32 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BV29-CCD32_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 32
    Protein Accession:
    Q9BV29
    Secondary Accessions:
    • A8KAL4
    • Q86TC4
    • Q8N788
    • Q8NAR7

    Protein attributes for CCDC32 Gene

    Size:
    185 amino acids
    Molecular mass:
    20656 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAD89911.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC32 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC32 Gene

Post-translational modifications for CCDC32 Gene

  • Ubiquitination at Lys119
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCDC32 Gene

Domains & Families for CCDC32 Gene

Gene Families for CCDC32 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC32 Gene

InterPro:

Suggested Antigen Peptide Sequences for CCDC32 Gene

GenScript: Design optimal peptide antigens:
  • Protein CCDC32 (CO057_HUMAN)
genes like me logo Genes that share domains with CCDC32: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC32 Gene

Function for CCDC32 Gene

Phenotypes From GWAS Catalog for CCDC32 Gene

Gene Ontology (GO) - Molecular Function for CCDC32 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with CCDC32: view
genes like me logo Genes that share phenotypes with CCDC32: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC32

Clone products for research

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC32 Gene

Localization for CCDC32 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC32 gene
Compartment Confidence
nucleus 3
cytosol 1
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
  • Vesicles (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC32 Gene

Pathways & Interactions for CCDC32 Gene

PathCards logo

SuperPathways for CCDC32 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC32 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC32 Gene

Drugs & Compounds for CCDC32 Gene

No Compound Related Data Available

Transcripts for CCDC32 Gene

mRNA/cDNA for CCDC32 Gene

13 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC32

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC32 Gene

No ASD Table

Relevant External Links for CCDC32 Gene

GeneLoc Exon Structure for
CCDC32

Expression for CCDC32 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC32

Evidence on tissue expression from TISSUES for CCDC32 Gene

  • Nervous system(2.4)
No Expression Related Data Available

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC32 Gene

Orthologs for CCDC32 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC32 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C15orf57 30
  • 100 (a)
OneToOne
C15H15orf57 29
  • 99.83 (n)
Dog
(Canis familiaris)
Mammalia C30H15orf57 29
  • 91.62 (n)
C15orf57 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C10H15orf57 29
  • 90.32 (n)
CCDC32 30
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Ccdc32 29 16 30
  • 88.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc32 29
  • 87.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia C15orf57 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C5H15ORF57 29 30
  • 73.75 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C15orf57 30
  • 65 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c15orf57 29
  • 59.55 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC564862 29
  • 59.02 (n)
C17H15orf57 30
  • 45 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2757 29
Species where no ortholog for CCDC32 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CCDC32 Gene

ENSEMBL:
Gene Tree for CCDC32 (if available)
TreeFam:
Gene Tree for CCDC32 (if available)
Alliance of Genome Resources:
Additional Orthologs for CCDC32

Paralogs for CCDC32 Gene

No data available for Paralogs for CCDC32 Gene

Variants for CCDC32 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC32 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
988600 Pathogenic: CARDIOFACIONEURODEVELOPMENTAL SYNDROME 40,562,988(-) T/TA
NM_001080792.4(CCDC32):c.27dup (p.Thr10fs)
FRAMESHIFT
988601 Pathogenic: CARDIOFACIONEURODEVELOPMENTAL SYNDROME 40,562,852(-) T/TCC
NM_001080792.4(CCDC32):c.162_163dup (p.Glu55fs)
FRAMESHIFT
rs10152546 -- p.Lys2Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC32 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CCDC32 Gene

Variant ID Type Subtype PubMed ID
esv2664009 CNV deletion 23128226
esv2749601 CNV deletion 23290073
esv2749602 CNV deletion 23290073
esv2760026 CNV loss 17122850
esv34145 CNV loss 18971310
esv3552351 CNV deletion 23714750
esv3636227 CNV loss 21293372
nsv507777 OTHER sequence alteration 20534489
nsv832984 CNV loss 17160897
nsv930488 CNV insertion 23359205

Variation tolerance for CCDC32 Gene

Residual Variation Intolerance Score: 54.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.57; 86.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC32 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC32
Leiden Open Variation Database (LOVD)
CCDC32

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC32 Gene

Disorders for CCDC32 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC32 Gene - From: OMI, CVR, and GCD

Disorder Aliases PubMed IDs
cardiofacioneurodevelopmental syndrome
  • cfnds
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC32

genes like me logo Genes that share disorders with CCDC32: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC32 Gene

Publications for CCDC32 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3
  3. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. (PMID: 32814053) Haenig C … Wanker EE (Cell reports 2020) 3
  4. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. (PMID: 32694731) Aregger M … Moffat J (Nature metabolism 2020) 3
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for CCDC32 Gene

Sources for CCDC32 Gene