Aliases for CCDC189 Gene

Aliases for CCDC189 Gene

  • Coiled-Coil Domain Containing 189 2 3 5
  • Coiled-Coil Domain-Containing Protein 189 3 4
  • C16orf93 3 4
  • Chromosome 16 Open Reading Frame 93 2

External Ids for CCDC189 Gene

Previous HGNC Symbols for CCDC189 Gene

  • C16orf93

Summaries for CCDC189 Gene

GeneCards Summary for CCDC189 Gene

CCDC189 (Coiled-Coil Domain Containing 189) is a Protein Coding gene. Diseases associated with CCDC189 include Phosphorylase Kinase Deficiency. An important paralog of this gene is C8orf74.

Additional gene information for CCDC189 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 CCDC189 Gene

Genomics for CCDC189 Gene

GeneHancer (GH) Regulatory Elements for CCDC189 Gene

Promoters and enhancers for CCDC189 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 CCDC189 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC189

Genomic Locations for CCDC189 Gene

Genomic Locations for CCDC189 Gene
chr16:30,757,423-30,762,277
(GRCh38/hg38)
Size:
4,855 bases
Orientation:
Minus strand
chr16:30,768,744-30,774,031
(GRCh37/hg19)
Size:
5,288 bases
Orientation:
Minus strand

Genomic View for CCDC189 Gene

Genes around CCDC189 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC189 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC189 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC189 Gene

Proteins for CCDC189 Gene

  • Protein details for CCDC189 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A1A4V9-CC189_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 189
    Protein Accession:
    A1A4V9
    Secondary Accessions:
    • A1A4V8
    • F5GX13
    • Q569G2

    Protein attributes for CCDC189 Gene

    Size:
    331 amino acids
    Molecular mass:
    37921 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC189 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC189 Gene

Post-translational modifications for CCDC189 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC189 Gene

Domains & Families for CCDC189 Gene

Gene Families for CCDC189 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC189 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC189 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein C16orf93 (CP093_HUMAN)
genes like me logo Genes that share domains with CCDC189: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC189 Gene

Function for CCDC189 Gene

Phenotypes From GWAS Catalog for CCDC189 Gene

genes like me logo Genes that share phenotypes with CCDC189: view

Animal Models for CCDC189 Gene

MGI Knock Outs for CCDC189:
  • Ccdc189 Ccdc189<tm1b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CCDC189 Gene

Localization for CCDC189 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 CCDC189 gene
Compartment Confidence
cytosol 3
cytoskeleton 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC189 Gene

Pathways & Interactions for CCDC189 Gene

PathCards logo

SuperPathways for CCDC189 Gene

No Data Available

Interacting Proteins for CCDC189 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000437532 A1A4V9-CC189_HUMAN for CCDC189 Gene via STRING IID

;

Gene Ontology (GO) - Biological Process for CCDC189 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC189 Gene

Drugs & Compounds for CCDC189 Gene

No Compound Related Data Available

Transcripts for CCDC189 Gene

mRNA/cDNA for CCDC189 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC189 Gene

No ASD Table

Relevant External Links for CCDC189 Gene

GeneLoc Exon Structure for
CCDC189

Expression for CCDC189 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC189

genes like me logo Genes that share expression patterns with CCDC189: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , 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 CCDC189 Gene

Orthologs for CCDC189 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC189 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C16H16orf93 31 30
  • 98.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C25H16orf93 30
  • 82.28 (n)
C16orf93 31
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C6H16orf93 31 30
  • 81.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC691909 30
  • 77.24 (n)
mouse
(Mus musculus)
Mammalia Gm166 31 30
  • 77.1 (n)
OneToOne
Ccdc189 17
oppossum
(Monodelphis domestica)
Mammalia C16orf93 31
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves C16orf93 31
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C16orf93 31
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493957 30
  • 51.6 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100151516 30
  • 48.58 (n)
C12H16orf93 31
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 39 (a)
OneToOne
Species where no ortholog for CCDC189 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 CCDC189 Gene

ENSEMBL:
Gene Tree for CCDC189 (if available)
TreeFam:
Gene Tree for CCDC189 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC189: view image

Paralogs for CCDC189 Gene

Paralogs for CCDC189 Gene

genes like me logo Genes that share paralogs with CCDC189: view

Variants for CCDC189 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC189 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
rs371856479 Uncertain Significance: Glycogen phosphorylase kinase deficiency 30,758,232(-) C/T THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs768683366 Uncertain Significance: Glycogen phosphorylase kinase deficiency 30,757,643(-) C/T MISSENSE_VARIANT,THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs886051915 Uncertain Significance: Glycogen phosphorylase kinase deficiency 30,757,308(-) C/T THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs886051916 Likely Benign: Glycogen phosphorylase kinase deficiency 30,757,687(-) G/A THREE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs886051917 Uncertain Significance: Glycogen phosphorylase kinase deficiency 30,757,943(-) A/G THREE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CCDC189 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC189 Gene

Variant ID Type Subtype PubMed ID
nsv469724 CNV loss 16826518
nsv833188 CNV loss 17160897
nsv9438 CNV gain 18304495

Variation tolerance for CCDC189 Gene

Residual Variation Intolerance Score: 60.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.02; 68.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC189 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC189

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC189 Gene

Disorders for CCDC189 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC189 Gene - From: GeneCards

Disorder Aliases PubMed IDs
phosphorylase kinase deficiency
  • glycogen storage disease type ix
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC189

genes like me logo Genes that share disorders with CCDC189: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC189 Gene

Publications for CCDC189 Gene

  1. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  2. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 54
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 4 54
  5. 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) 3 54

Products for CCDC189 Gene

Sources for CCDC189 Gene