Aliases for CCDC92 Gene

Aliases for CCDC92 Gene

  • Coiled-Coil Domain Containing 92 2 3 5
  • Coiled-Coil Domain-Containing Protein 92 3 4
  • Limkain Beta 2 2 3
  • Limkain Beta-2 4
  • FLJ22471 2
  • CCDC92 5

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. Diseases associated with CCDC92 include Lipodystrophy, Familial Partial, Type 1 and Senior-Loken Syndrome 1.

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 CCDC92 Gene

Genomics for CCDC92 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC92 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 CCDC92 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC92

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

Genomic Locations for CCDC92 Gene

Latest Assembly
54,172 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
37,206 bases
Minus strand

(GRCh37/hg19 by Ensembl)
54,172 bases
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:
    Recommended name:
    Coiled-coil domain-containing protein 92
    Protein Accession:
    Secondary Accessions:
    • B3KNQ0
    • Q9H697

    Protein attributes for CCDC92 Gene

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

    Alternative splice isoforms for CCDC92 Gene


neXtProt entry for CCDC92 Gene

Post-translational modifications for CCDC92 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Suggested Antigen Peptide Sequences for CCDC92 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ43878 fis, clone TESTI4008935 (B3KNQ0_HUMAN)
  • Limkain beta-2 (CCD92_HUMAN)
genes like me logo Genes that share domains with CCDC92: view

No data available for Graphical View of Domain Structure and 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
GO:0042802 identical protein binding IPI 32296183
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>

miRNA for CCDC92 Gene

miRTarBase miRNAs that target CCDC92

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC92

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

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
extracellular 1
mitochondrion 1

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 IBA,IDA 22863007
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with CCDC92: view

Pathways & Interactions for CCDC92 Gene

PathCards logo

SuperPathways for CCDC92 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC92 Gene


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

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC92

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: - - - - - -

Relevant External Links for CCDC92 Gene

GeneLoc Exon Structure for

Expression for CCDC92 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC92

SOURCE GeneReport for Unigene cluster for CCDC92 Gene:


Evidence on tissue expression from TISSUES for CCDC92 Gene

  • Nervous system(4.9)
  • Liver(4.3)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with CCDC92: view

Primer products for research

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
(Pan troglodytes)
Mammalia CCDC92 30 31
  • 98.29 (n)
(Bos Taurus)
Mammalia CCDC92 30 31
  • 87.15 (n)
(Canis familiaris)
Mammalia CCDC92 30 31
  • 86.52 (n)
(Ornithorhynchus anatinus)
Mammalia CCDC92 31
  • 83 (a)
(Rattus norvegicus)
Mammalia Ccdc92 30
  • 82 (n)
(Mus musculus)
Mammalia Ccdc92 30 17 31
  • 81.58 (n)
(Monodelphis domestica)
Mammalia CCDC92 31
  • 78 (a)
(Gallus gallus)
Aves CCDC92 30 31
  • 75.48 (n)
(Anolis carolinensis)
Reptilia CCDC92 31
  • 85 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc92 30
  • 72.9 (n)
(Danio rerio)
Actinopterygii ccdc92 30 31
  • 66.77 (n)
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7515 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
Species where no ortholog for CCDC92 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)
  • 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 CCDC92 Gene

Gene Tree for CCDC92 (if available)
Gene Tree for CCDC92 (if available)
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC92 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs11057401 - p.Ser70Cys
rs17886730 - p.Arg281His
rs35935939 - p.Ala253Thr

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC92 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for CCDC92 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CCDC92 Gene - From: COP

Disorder Aliases PubMed IDs
lipodystrophy, familial partial, type 1
  • fpld1
senior-loken syndrome 1
  • slsn1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC92

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CCDC92: view

No data available for 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
  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 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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
  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

Products for CCDC92 Gene

Sources for CCDC92 Gene