Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CCDC92 Gene

Aliases for CCDC92 Gene

  • Coiled-Coil Domain Containing 92 2 3 5
  • Limkain Beta 2 2 3
  • Coiled-Coil Domain-Containing Protein 92 3
  • Limkain Beta-2 4

External Ids for CCDC92 Gene

Previous GeneCards Identifiers for CCDC92 Gene

  • GC12M122986
  • GC12M124420
  • GC12M121383
  • GC12M124403

Summaries for CCDC92 Gene

GeneCards Summary for CCDC92 Gene

CCDC92 (Coiled-Coil Domain Containing 92) is a Protein Coding gene.

Additional gene information for CCDC92 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 CCDC92 Gene

Genomics for CCDC92 Gene

GeneHancer (GH) Regulatory Elements for CCDC92 Gene

Promoters and enhancers for CCDC92 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
GH12J123971 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.7 +0.1 75 3.4 ARID4B SIN3A ZNF48 YY1 ETS1 GLIS2 ZNF143 RUNX3 SP3 YY2 ZNF664-RFLNA RFLNA ZNF664 ENSG00000270095 ENSG00000274874 CCDC92 DNAH10OS ENSG00000270028 C12orf65 NCOR2
GH12J124913 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.4 -946.2 -946198 12.7 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 SCARB1 UBC DHX37 NCOR2 ENSG00000269938 ENSG00000270130 ENSG00000269997 ENSG00000270061 DNAH10OS LOC100131779
GH12J124029 Enhancer 1.2 Ensembl ENCODE dbSUPER 20 -57.8 -57779 1.8 HDAC1 MEIS2 ZNF146 PKNOX1 MAX ZIC2 FOSL1 ZNF335 CTBP1 FOXK2 CCDC92 RFLNA ZNF664 DNAH10OS PIR55353 ENSG00000275389 ZNF664-RFLNA ENSG00000274874
GH12J123937 Enhancer 0.8 Ensembl ENCODE 27 +34.8 34791 2 MEIS2 CTCF PKNOX1 MAFG IRF4 RAD21 CTBP1 ZNF316 ZNF341 ZNF143 PIR47036 GC12M123935 CCDC92 DNAH10OS ZNF664 PIR34615
GH12J123941 Enhancer 0.6 ENCODE 27.6 +30.5 30496 2.3 JUN NRF1 CEBPB CBFA2T3 MITF CBX1 CBX5 IKZF1 SCRT2 TRIM24 CCDC92 DNAH10 DNAH10OS ZNF664 ENSG00000270028 PIR34615 PIR47036
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC92 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CCDC92 gene promoter:
  • E4BP4
  • Arnt
  • Evi-1
  • Sox9
  • STAT5A
  • ATF
  • c-Ets-1
  • Pax-4a
  • Hand1

Genomic Locations for CCDC92 Gene

Genomic Locations for CCDC92 Gene
chr12:123,918,660-123,972,985
(GRCh38/hg38)
Size:
54,326 bases
Orientation:
Minus strand
chr12:124,403,207-124,457,378
(GRCh37/hg19)
Size:
54,172 bases
Orientation:
Minus strand

Genomic View for CCDC92 Gene

Genes around CCDC92 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC92 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC92 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC92 Gene

Proteins for CCDC92 Gene

  • Protein details for CCDC92 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53HC0-CCD92_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 92
    Protein Accession:
    Q53HC0
    Secondary Accessions:
    • B3KNQ0
    • Q9H697

    Protein attributes for CCDC92 Gene

    Size:
    331 amino acids
    Molecular mass:
    36961 Da
    Quaternary structure:
    • Interacts with CEP164.
    SequenceCaution:
    • Sequence=BAD96381.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC92 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC92 Gene

Post-translational modifications for CCDC92 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for CCDC92
  • Boster Bio Antibodies for CCDC92

No data available for DME Specific Peptides for CCDC92 Gene

Domains & Families for CCDC92 Gene

Gene Families for CCDC92 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC92 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC92 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC92: view

No data available for UniProtKB/Swiss-Prot for CCDC92 Gene

Function for CCDC92 Gene

Phenotypes From GWAS Catalog for CCDC92 Gene

Gene Ontology (GO) - Molecular Function for CCDC92 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 22458338
genes like me logo Genes that share ontologies with CCDC92: view
genes like me logo Genes that share phenotypes with CCDC92: view

Animal Models for CCDC92 Gene

MGI Knock Outs for CCDC92:
  • Ccdc92 Ccdc92<tm1b(KOMP)Mbp>

Animal Model Products

miRNA for CCDC92 Gene

miRTarBase miRNAs that target CCDC92

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC92 Gene

Localization for CCDC92 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC92 Gene

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole.

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 CCDC92 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC92 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005813 centrosome IDA --
GO:0005814 centriole IEA,IDA 22863007
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CCDC92: view

Pathways & Interactions for CCDC92 Gene

SuperPathways for CCDC92 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC92 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC92 Gene

Drugs & Compounds for CCDC92 Gene

No Compound Related Data Available

Transcripts for CCDC92 Gene

mRNA/cDNA for CCDC92 Gene

(14) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC92 Gene

Coiled-coil domain containing 92:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC92 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g · 10h
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - -
SP8: - - - - - -
SP9:
SP10:

Relevant External Links for CCDC92 Gene

GeneLoc Exon Structure for
CCDC92
ECgene alternative splicing isoforms for
CCDC92

Expression for CCDC92 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC92 Gene

Protein differential expression in normal tissues from HIPED for CCDC92 Gene

This gene is overexpressed in Ovary (31.3) and Monocytes (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC92 Gene



Protein tissue co-expression partners for CCDC92 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC92 Gene:

CCDC92

SOURCE GeneReport for Unigene cluster for CCDC92 Gene:

Hs.713131

Evidence on tissue expression from TISSUES for CCDC92 Gene

  • Nervous system(4.8)
  • Intestine(4.2)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with CCDC92: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC92 Gene

Orthologs for CCDC92 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC92 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC92 34 33
  • 98.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC92 34 33
  • 87.15 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC92 34 33
  • 86.52 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC92 34
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc92 33
  • 82 (n)
mouse
(Mus musculus)
Mammalia Ccdc92 16 34 33
  • 81.58 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC92 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC92 34 33
  • 75.48 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC92 34
  • 85 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc92 33
  • 72.9 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc92 34 33
  • 66.77 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7515 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 30 (a)
OneToOne
Species where no ortholog for CCDC92 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)
  • 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 CCDC92 Gene

ENSEMBL:
Gene Tree for CCDC92 (if available)
TreeFam:
Gene Tree for CCDC92 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC92: view image

Paralogs for CCDC92 Gene

No data available for Paralogs for CCDC92 Gene

Variants for CCDC92 Gene

Sequence variations from dbSNP and Humsavar for CCDC92 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000003607 -- 123,937,694(-) C/T coding_sequence_variant, synonymous_variant
rs1000089831 -- 123,938,910(-) C/A/T intron_variant
rs1000176913 -- 123,957,649(-) T/C genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000246229 -- 123,963,021(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000351428 -- 123,973,222(-) CCCCC/CCCCCC upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC92 Gene

Variant ID Type Subtype PubMed ID
esv1305470 CNV insertion 17803354
esv3302753 CNV tandem duplication 20981092
nsv1115971 CNV insertion 24896259
nsv1116712 CNV tandem duplication 24896259
nsv522321 CNV loss 19592680

Variation tolerance for CCDC92 Gene

Residual Variation Intolerance Score: 41.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.63; 86.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC92 Gene

Human Gene Mutation Database (HGMD)
CCDC92
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC92

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC92 Gene

Disorders for CCDC92 Gene

Additional Disease Information for CCDC92

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CCDC92 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC92 Gene

Publications for CCDC92 Gene

  1. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. (PMID: 22863007) Chaki M … Hildebrandt F (Cell 2012) 3 4 58
  2. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. (PMID: 19936222) Chasman DI … Ridker PM (PLoS genetics 2009) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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) 3 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) 2 3 58

Products for CCDC92 Gene

Sources for CCDC92 Gene

Content
Loading form....