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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 Glycogen Storage Disease Ixc and 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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC189 Gene

Genomics for CCDC189 Gene

GeneHancer (GH) Regulatory Elements for CCDC189 Gene

Promoters and enhancers for CCDC189 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
GH16J030760 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 627.2 +0.2 183 3.5 HDGF SP1 CC2D1A ELF3 MNT ZNF148 NKRF POLR2A MLLT1 CEBPG CCDC189 PIR45630 RNF40 ZNF785 ZNF747 PRRT2 SETD1A FUS ZNF720 ENSG00000260082
GH16J030872 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE 22.9 -112.6 -112608 5.3 HDGF SP1 ZNF652 CC2D1A ZFX ELF3 ZKSCAN8 MNT NKRF POLR2A MIR762HG MIR4519 RNF40 BCL7C SETD1A KAT8 ENSG00000260267 ZNF720 INO80E SRCAP
GH16J030774 Promoter/Enhancer 1.6 Ensembl ENCODE 27 -14.8 -14813 5.5 HDGF ZFX ELF3 MNT SIX5 ZNF148 NKRF POLR2A MLLT1 CEBPG ENSG00000280211 GC16P030778 ZNF785 SRCAP ZNF720 SETD1A NPIPB13 CCDC189 KAT8 ZNF764
GH16J030656 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 23.5 +102.7 102708 5.8 MTA3 SP1 CTCF ZFX ELF3 MNT ZNF148 NKRF POLR2A CEBPG FBRS PIR57497 SETD1A SRCAP ENSG00000260304 RNF40 ZNF764 INO80E ENSG00000260267 SMG1P5
GH16J030785 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 19.6 -24.5 -24461 3.4 ZNF652 ZFX SP1 CC2D1A ELF3 ZNF148 MLLT1 ZSCAN21 NFRKB AHR ZNF629 SRCAP SETD1A ENSG00000260267 INO80E SMG1P5 ENSG00000260304 ZNF764 NPIPB13 RNF40
- 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

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)

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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

  • Applied Biological Materials (abm): Clones for CCDC189 - Now 50% OFF >
  • * CCDC189 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CCDC189 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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)
https://version11.string-db.org/api/image/network?species=9606&limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000437532%0d9606.ENSP00000244926%0d
Selected Interacting proteins: A1A4V9-CC189_HUMAN ENSP00000437532 for CCDC189 Gene via IID STRING

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

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for CCDC189 - Now 50% OFF >
  • * CCDC189 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * CCDC189 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

No ASD Table

Relevant External Links for CCDC189 Gene

GeneLoc Exon Structure for
CCDC189
ECgene alternative splicing isoforms for
CCDC189

Expression for CCDC189 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of CCDC189 Gene:

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 35 34
  • 98.99 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C25H16orf93 34
  • 82.28 (n)
C16orf93 35
  • 77 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C6H16orf93 35 34
  • 81.97 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC691909 34
  • 77.24 (n)
mouse
(Mus musculus)
Mammalia Gm166 35 34
  • 77.1 (n)
OneToOne
Ccdc189 17
oppossum
(Monodelphis domestica)
Mammalia C16orf93 35
  • 56 (a)
OneToOne
chicken
(Gallus gallus)
Aves C16orf93 35
  • 35 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C16orf93 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493957 34
  • 51.6 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100151516 34
  • 48.58 (n)
C12H16orf93 35
  • 31 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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 from dbSNP and Humsavar for CCDC189 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs151033581 uncertain-significance, Glycogen storage disease IXc 30,756,927(-) G/A downstream_transcript_variant
rs371856479 uncertain-significance, Glycogen phosphorylase kinase deficiency 30,758,232(-) C/T genic_downstream_transcript_variant, intron_variant
rs61731628 likely-benign, uncertain-significance, benign, not specified, Glycogen phosphorylase kinase deficiency, Glycogen storage disease IXc 30,757,013(-) T/C downstream_transcript_variant
rs768683366 uncertain-significance, Glycogen phosphorylase kinase deficiency 30,757,643(-) C/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs886051913 uncertain-significance, Glycogen phosphorylase kinase deficiency 30,756,795(-) C/A/G/T downstream_transcript_variant

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

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

Disorder Aliases PubMed IDs
glycogen storage disease ixc
  • gsd9c
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 58
  2. Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3 58
  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 58
  4. The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 4 58
  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 58

Products for CCDC189 Gene

Sources for CCDC189 Gene

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