Aliases for CCDC43 Gene

Aliases for CCDC43 Gene

  • Coiled-Coil Domain Containing 43 2 3 5
  • Coiled-Coil Domain-Containing Protein 43 3 4
  • FLJ31795 2
  • CCDC43 5

External Ids for CCDC43 Gene

Previous GeneCards Identifiers for CCDC43 Gene

  • GC17M040112
  • GC17M042754
  • GC17M038519

Summaries for CCDC43 Gene

GeneCards Summary for CCDC43 Gene

CCDC43 (Coiled-Coil Domain Containing 43) is a Protein Coding gene. Diseases associated with CCDC43 include Spinocerebellar Ataxia, Autosomal Recessive 3.

Additional gene information for CCDC43 Gene

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 CCDC43 Gene

Genomics for CCDC43 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC43 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC43 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC43

Top Transcription factor binding sites by QIAGEN in the CCDC43 gene promoter:
  • E47
  • FOXL1
  • HOXA9
  • HOXA9B
  • HSF1 (long)
  • HSF1short
  • Meis-1
  • Meis-1b
  • p300
  • TGIF

Genomic Locations for CCDC43 Gene

Genomic Locations for CCDC43 Gene
chr17:44,673,069-44,689,797
(GRCh38/hg38)
Size:
16,729 bases
Orientation:
Minus strand
chr17:42,750,437-42,767,165
(GRCh37/hg19)
Size:
16,729 bases
Orientation:
Minus strand

Genomic View for CCDC43 Gene

Genes around CCDC43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC43 Gene

Proteins for CCDC43 Gene

  • Protein details for CCDC43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MW1-CCD43_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 43
    Protein Accession:
    Q96MW1
    Secondary Accessions:
    • C9JVK9

    Protein attributes for CCDC43 Gene

    Size:
    224 amino acids
    Molecular mass:
    25248 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC43 Gene

Post-translational modifications for CCDC43 Gene

  • Ubiquitination at Lys162
  • Modification sites at PhosphoSitePlus

Other Protein References for CCDC43 Gene

No data available for DME Specific Peptides for CCDC43 Gene

Domains & Families for CCDC43 Gene

Gene Families for CCDC43 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC43 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC43 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 43 (CCD43_HUMAN)
  • CCDC43 protein (Q86WV7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96MW1

UniProtKB/Swiss-Prot:

CCD43_HUMAN :
  • Belongs to the CCDC43 family.
Family:
  • Belongs to the CCDC43 family.
genes like me logo Genes that share domains with CCDC43: view

Function for CCDC43 Gene

Gene Ontology (GO) - Molecular Function for CCDC43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21044950
genes like me logo Genes that share ontologies with CCDC43: view
genes like me logo Genes that share phenotypes with CCDC43: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC43

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC43 Gene

Localization for CCDC43 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 CCDC43 gene
Compartment Confidence
cytosol 5
nucleus 2
extracellular 0
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with CCDC43: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CCDC43 Gene

Pathways & Interactions for CCDC43 Gene

PathCards logo

SuperPathways for CCDC43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC43 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC43 Gene

Drugs & Compounds for CCDC43 Gene

No Compound Related Data Available

Transcripts for CCDC43 Gene

mRNA/cDNA for CCDC43 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC43

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC43 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b
SP1: - -
SP2: -
SP3:

Relevant External Links for CCDC43 Gene

GeneLoc Exon Structure for
CCDC43

Expression for CCDC43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC43 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC43 Gene

This gene is overexpressed in Muscle - Skeletal (x4.8).

Protein differential expression in normal tissues from HIPED for CCDC43 Gene

This gene is overexpressed in Bone marrow stromal cell (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC43 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC43

SOURCE GeneReport for Unigene cluster for CCDC43 Gene:

Hs.579115

Evidence on tissue expression from TISSUES for CCDC43 Gene

  • Intestine(4.2)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with CCDC43: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC43 Gene

Orthologs for CCDC43 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC43 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC43 30 31
  • 99.7 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC43 30 31
  • 92.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC43 30 31
  • 92.11 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc43 30
  • 86.19 (n)
Mouse
(Mus musculus)
Mammalia Ccdc43 30 17 31
  • 85.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC43 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC43 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC43 30 31
  • 73.77 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC43 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc43 30
  • 68.87 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc43 30 31
  • 68.41 (n)
OneToOne
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009665 30
  • 48.87 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG9586 30 31
  • 43.76 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3227 31
  • 28 (a)
OneToOne
Species where no ortholog for CCDC43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 CCDC43 Gene

ENSEMBL:
Gene Tree for CCDC43 (if available)
TreeFam:
Gene Tree for CCDC43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC43: view image

Paralogs for CCDC43 Gene

No data available for Paralogs for CCDC43 Gene

Variants for CCDC43 Gene

Additional dbSNP identifiers (rs#s) for CCDC43 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC43 Gene

Variant ID Type Subtype PubMed ID
nsv112452 CNV deletion 16902084
nsv1146669 OTHER inversion 26484159
nsv575100 CNV loss 21841781
nsv833456 CNV gain+loss 17160897

Variation tolerance for CCDC43 Gene

Residual Variation Intolerance Score: 44.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC43 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC43 Gene

Disorders for CCDC43 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC43 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia, autosomal recessive 3
  • scar3
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with CCDC43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC43 Gene

Publications for CCDC43 Gene

  1. The FOXK1-CCDC43 Axis Promotes the Invasion and Metastasis of Colorectal Cancer Cells. (PMID: 30562730) Wang J … Wang J (Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018) 2 3
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. ATG5 is required for B cell polarization and presentation of particulate antigens. (PMID: 30196744) Arbogast F … Gros F (Autophagy 2019) 3
  5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. (PMID: 29513927) Tomkins JE … Manzoni C (Proteomics 2018) 3

Products for CCDC43 Gene

Sources for CCDC43 Gene