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Aliases for CCDC43 Gene

Aliases for CCDC43 Gene

  • Coiled-Coil Domain Containing 43 2 3 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.

Additional gene information for CCDC43 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC43 Gene

Genomics for CCDC43 Gene

GeneHancer (GH) Regulatory Elements for CCDC43 Gene

Promoters and enhancers for CCDC43 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
GH17I044687 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +0.4 358 3.7 CLOCK FOXA2 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 ENSG00000279879 CCDC43 DBF4B TMUB2 UBTF ASB16-AS1 GPATCH8 ENSG00000224505 ENSG00000260793 MEIOC
GH17I044533 Enhancer 1.4 Ensembl ENCODE dbSUPER 10.5 +155.8 155815 1.7 HDGF CLOCK ARID4B SIN3A GLI4 ZNF2 ZNF48 SLC30A9 ZNF121 GLIS2 GPATCH8 MEIOC CCDC43 LOC105371791 PIR44449
GH17I044818 Enhancer 1.4 Ensembl ENCODE dbSUPER 9.7 -130.6 -130598 3.4 ARNT ZNF493 ZFP64 FEZF1 ZNF2 ZNF121 ZNF213 KLF7 FOS ZNF202 UBTF ASB16-AS1 TMUB2 GPATCH8 GJC1 MPP2 ENSG00000266918 LINC02210 ENSG00000260793 EFTUD2
GH17I044535 Enhancer 1 Ensembl ENCODE dbSUPER 9.9 +153.4 153404 1.6 REST ZBTB40 GABPA ZSCAN21 ZNF316 GABPB1 ADNP IKZF1 NR2C1 ZFX LOC105371791 GPATCH8 MEIOC CCDC43 FZD2
GH17I044822 Enhancer 0.8 ENCODE dbSUPER 9.7 -133.2 -133184 1.5 MZF1 ZNF384 ZEB2 OSR2 PRDM6 GLIS1 SCRT2 ZNF600 WT1 ZNF18 FAM187A HIGD1B GFAP C1QL1 MEIOC CCDC43 GJC1 GC17M044778 PIR52410
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC43 gene promoter:

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)

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

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC43 Gene

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

Clone Products

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 3
nucleus 2
extracellular 1
mitochondrion 1

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

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

Unigene Clusters for CCDC43 Gene

Coiled-coil domain containing 43:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
CCDC43

Expression for CCDC43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of CCDC43 Gene:

CCDC43

SOURCE GeneReport for Unigene cluster for CCDC43 Gene:

Hs.579115
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 , Evidence on tissue expression from TISSUES 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 33 34
  • 99.7 (n)
cow
(Bos Taurus)
Mammalia CCDC43 33 34
  • 92.42 (n)
dog
(Canis familiaris)
Mammalia CCDC43 33 34
  • 92.11 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc43 33
  • 86.19 (n)
mouse
(Mus musculus)
Mammalia Ccdc43 33 16 34
  • 85.74 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC43 34
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC43 34
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC43 33 34
  • 73.77 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC43 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc43 33
  • 68.87 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc43 33 34
  • 68.41 (n)
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009665 33
  • 48.87 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG9586 33 34
  • 43.76 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3227 34
  • 28 (a)
OneToOne
Species where no ortholog for CCDC43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for CCDC43 Gene

No data available for Paralogs for CCDC43 Gene

Variants for CCDC43 Gene

Sequence variations from dbSNP and Humsavar for CCDC43 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000313568 -- 44,677,227(-) T/C downstream_transcript_variant
rs1000337000 -- 44,685,391(-) C/T intron_variant
rs1000522005 -- 44,691,757(-) A/C upstream_transcript_variant
rs1000527796 -- 44,688,353(-) A/G intron_variant
rs1001102970 -- 44,681,435(-) C/A intron_variant

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 for CCDC43 Gene

Disorders for CCDC43 Gene

Additional Disease Information for CCDC43

No disorders were found for CCDC43 Gene.

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

Publications for CCDC43 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Proteomic Analysis of the EWS-Fli-1 Interactome Reveals the Role of the Lysosome in EWS-Fli-1 Turnover. (PMID: 24999758) Elzi DJ … Shiio Y (Journal of proteome research 2014) 3 58

Products for CCDC43 Gene

Sources for CCDC43 Gene

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