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Aliases for CCDC189 Gene
Aliases for CCDC189 Gene
External Ids for CCDC189 Gene
- HGNC: 28078
- Entrez Gene: 90835
- Ensembl: ENSG00000196118
- OMIM: 618318
- UniProtKB: A1A4V9
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
- HGNC(28078)
- Entrez Gene(90835)
- Ensembl(ENSG00000196118)
- OMIM(618318)
- UniProtKB(A1A4V9)
- Open Targets Platform(ENSG00000196118)
- Search for CCDC189 at DataMed
- Search for CCDC189 at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC189
Genomic Locations for CCDC189 Gene
Genomic Locations for CCDC189 Gene
- chr16:30,757,226-30,762,272
- (GRCh38/hg38)
- Size:
- 5,047 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:
-
- 16p11.2 by HGNC
- 16p11.2 by Entrez Gene
- 16p11.2 by Ensembl
CCDC189 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- A1A4V8
- F5GX13
- Q569G2
Protein attributes for CCDC189 Gene
- Size:
- 331 amino acids
- Molecular mass:
- 37921 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for CCDC189 Gene
Other Protein References for CCDC189 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CCDC189
- Invitrogen Antibodies for CCDC189 (AFLGC-CCDC189)
- antibodies-online: Show 9 available C16ORF93 Antibodies ranked by validation data
Protein Products
-
OriGene Purified Proteins for CCDC189
- Search Origene for MassSpec and Protein Over-expression Lysates for CCDC189
- Origene Custom Protein Services for CCDC189
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
Suggested Antigen Peptide Sequences for CCDC189 Gene
- GenScript: Design optimal peptide antigens:
-
- Coiled-coil domain-containing protein C16orf93 (CP093_HUMAN)
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
Phenotypes for CCDC189 Gene
- MGI mutant phenotypes for CCDC189:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CCDC189:
Animal Models for CCDC189 Gene
- MGI Knock Outs for CCDC189:
-
- Ccdc189 Ccdc189<tm1b(EUCOMM)Hmgu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CCDC189 - Select products 50% OFF >
- * CCDC189 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CCDC189
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC189
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC189
- Browse OriGene Inhibitory RNA Products For CCDC189
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC189
Clone Products
- Applied Biological Materials (abm): Clones for CCDC189 - Select products 50% OFF >
- * CCDC189 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CCDC189
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC189
Cell Line Products
-
Horizon Cell Lines for CCDC189
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
| Compartment | Confidence |
|---|---|
| cytosol | 3 |
| cytoskeleton | 2 |
| extracellular | 1 |
| peroxisome | 1 |
- Cytosol (2)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC189 Gene
Pathways & Interactions for CCDC189 Gene
Interacting Proteins for CCDC189 Gene
GPS-Prot Interaction Network for CCDC189
No data available for Pathways by source and SIGNOR curated interactions for CCDC189 Gene
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 :
-
- ENST00000544613 555 nts (view in UCSC)
- ENST00000546006 1533 nts (view in UCSC)
- ENST00000544643 1759 nts (view in UCSC)
- ENST00000535476 488 nts (view in UCSC)
- ENST00000543128 1829 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CCDC189 - Select products 50% OFF >
- * CCDC189 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CCDC189
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC189
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC189
- Browse OriGene Inhibitory RNA Products For CCDC189
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC189
Clone Products
- Applied Biological Materials (abm): Clones for CCDC189 - Select products 50% OFF >
- * CCDC189 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CCDC189
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC189
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
Primer Products
-
OriGene qPCR primer pairs for CCDC189
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C16H16orf93 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | C25H16orf93 30 |
|
||
| C16orf93 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | C6H16orf93 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | LOC691909 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Gm166 30 31 |
|
OneToOne | |
| Ccdc189 17 |
|
||||
| Oppossum (Monodelphis domestica) |
Mammalia | C16orf93 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | C16orf93 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | C16orf93 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100493957 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100151516 30 |
|
||
| C12H16orf93 31 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for CCDC189 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)
- 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 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
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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC189 Gene
Disorders for CCDC189 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| phosphorylase kinase deficiency |
|
|
Search CCDC189 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CCDC189
No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC189 Gene
Publications for CCDC189 Gene
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
- Insights into RNA biology from an atlas of mammalian mRNA-binding proteins. (PMID: 22658674) Castello A … Hentze MW (Cell 2012) 3
- The sequence and analysis of duplication-rich human chromosome 16. (PMID: 15616553) Martin J … Pennacchio LA (Nature 2004) 4
- 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
- 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
ExternalLinks
Products for CCDC189 Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CCDC189
- Search Origene for MassSpec and Protein Over-expression Lysates for CCDC189
- Origene Custom Protein Services for CCDC189
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC189
- Browse OriGene Inhibitory RNA Products For CCDC189
- OriGene qPCR primer pairs for CCDC189
- OriGene CRISPR knockouts for CCDC189
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CCDC189
- Sino Biological Human cDNA Clone for CCDC189
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CCDC189
- Novus Biologicals proteins and lysates for CCDC189
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for CCDC189 (AFLGC-CCDC189)
- VectorBuilder Custom and pre-made DNA vectors for CCDC189 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CCDC189 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CCDC189 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CCDC189 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CCDC189
- antibodies-online: Show 9 available C16ORF93 Antibodies ranked by validation data
- antibodies-online: Search results for available C16ORF93 related products ranked by validation data
- antibodies-online: Search results for available C16ORF93 related products ranked by validation data
- Horizon Cell Lines for CCDC189
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC189
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC189
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CCDC189
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC189
Sources for CCDC189 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB