This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017] See more...

Aliases for CCDC122 Gene

Aliases for CCDC122 Gene

  • Coiled-Coil Domain Containing 122 2 3 5
  • Coiled-Coil Domain-Containing Protein 122 3 4

External Ids for CCDC122 Gene

Previous GeneCards Identifiers for CCDC122 Gene

  • GC13M043309
  • GC13M044398
  • GC13M025212

Summaries for CCDC122 Gene

Entrez Gene Summary for CCDC122 Gene

  • This gene encodes a protein that contains a coiled-coil domain. Naturally occurring mutations in this gene are associated with leprosy. [provided by RefSeq, Apr 2017]

GeneCards Summary for CCDC122 Gene

CCDC122 (Coiled-Coil Domain Containing 122) is a Protein Coding gene. Diseases associated with CCDC122 include Radial Nerve Lesion and Ulnar Nerve Lesion. An important paralog of this gene is SMC1A.

Additional gene information for CCDC122 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC122 Gene

Genomics for CCDC122 Gene

GeneHancer (GH) Regulatory Elements for CCDC122 Gene

Promoters and enhancers for CCDC122 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
GH13J043878 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 531.5 +0.1 139 2.8 TCF12 POLR2G PHF8 ZFX ZIC2 POLR2A CLOCK ZBTB26 KLF4 CHD1 CCDC122 LACC1 ENSG00000274001 ENOX1
GH13J043884 Promoter 0.6 Ensembl 527.8 -2.0 -1961 0.2 ZNF316 MAFF MAFK CCDC122 LACC1 ENSG00000281883
GH13J043847 Enhancer 0.8 Ensembl ENCODE 39.1 +31.6 31584 3.3 FOS FOSL2 CEBPB JUN JUND EP300 GATA2 HLF GATA3 SOX5 CCDC122 LACC1 lnc-CCDC122-2 LOC105370181
GH13J043864 Enhancer 0.9 FANTOM5 Ensembl ENCODE 30.3 +13.9 13862 2.6 EP300 CEBPB NFE2 MAFK MAFG GATA2 NFE2L2 FOS CCDC122 LACC1 lnc-CCDC122-2 LOC105370181
GH13J043908 Enhancer 0.8 Ensembl ENCODE 25.6 -29.2 -29232 1.2 CTCF FOS RFX1 SMC3 MAFK ZNF654 RAD21 RXRA HNF4A BHLHE40 NRAD1 CCDC122 LACC1 lnc-LACC1-3 ENSG00000281883
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC122 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC122

Top Transcription factor binding sites by QIAGEN in the CCDC122 gene promoter:
  • AML1a
  • C/EBPalpha
  • C/EBPbeta
  • Cart-1
  • HSF1 (long)
  • HSF1short
  • Ik-2
  • Nkx2-2

Genomic Locations for CCDC122 Gene

Genomic Locations for CCDC122 Gene
chr13:43,823,909-43,879,740
(GRCh38/hg38)
Size:
55,832 bases
Orientation:
Minus strand
chr13:44,398,045-44,453,827
(GRCh37/hg19)
Size:
55,783 bases
Orientation:
Minus strand

Genomic View for CCDC122 Gene

Genes around CCDC122 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC122 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC122 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC122 Gene

Proteins for CCDC122 Gene

  • Protein details for CCDC122 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T0U0-CC122_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 122
    Protein Accession:
    Q5T0U0
    Secondary Accessions:
    • B2RP70
    • B7ZMI9
    • Q96MV0

    Protein attributes for CCDC122 Gene

    Size:
    273 amino acids
    Molecular mass:
    32206 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC122 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC122 Gene

Post-translational modifications for CCDC122 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC122 Gene

Domains & Families for CCDC122 Gene

Gene Families for CCDC122 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC122 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC122 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 122 (CC122_HUMAN)
genes like me logo Genes that share domains with CCDC122: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC122 Gene

Function for CCDC122 Gene

Phenotypes From GWAS Catalog for CCDC122 Gene

genes like me logo Genes that share phenotypes with CCDC122: view

Animal Models for CCDC122 Gene

MGI Knock Outs for CCDC122:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC122

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC122 Gene

Localization for CCDC122 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 CCDC122 gene
Compartment Confidence
nucleus 3
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC122 Gene

Pathways & Interactions for CCDC122 Gene

PathCards logo

SuperPathways for CCDC122 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC122 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC122 Gene

Drugs & Compounds for CCDC122 Gene

No Compound Related Data Available

Transcripts for CCDC122 Gene

mRNA/cDNA for CCDC122 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC122

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC122 Gene

No ASD Table

Relevant External Links for CCDC122 Gene

GeneLoc Exon Structure for
CCDC122

Expression for CCDC122 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC122 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC122 Gene

This gene is overexpressed in Prostate (40.4), Rectum (21.0), and Urinary Bladder (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC122 Gene



Protein tissue co-expression partners for CCDC122 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC122

SOURCE GeneReport for Unigene cluster for CCDC122 Gene:

Hs.170849
genes like me logo Genes that share expression patterns with CCDC122: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC122 Gene

Orthologs for CCDC122 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC122 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC122 31 30
  • 97.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC122 31 30
  • 89.13 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC122 31 30
  • 87.01 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc122 17 31 30
  • 82.28 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc122 30
  • 80.7 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC122 31
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 64 (a)
OneToMany
-- 31
  • 59 (a)
OneToMany
-- 31
  • 54 (a)
OneToMany
chicken
(Gallus gallus)
Aves CCDC122 31 30
  • 67.06 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC122 31
  • 49 (a)
OneToOne
Species where no ortholog for CCDC122 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CCDC122 Gene

ENSEMBL:
Gene Tree for CCDC122 (if available)
TreeFam:
Gene Tree for CCDC122 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC122: view image

Paralogs for CCDC122 Gene

Paralogs for CCDC122 Gene

(17) SIMAP similar genes for CCDC122 Gene using alignment to 2 proteins:

  • CC122_HUMAN
  • B7ZMJ0_HUMAN
genes like me logo Genes that share paralogs with CCDC122: view

Variants for CCDC122 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC122 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
rs9567280 - p.Ile269Thr

Additional dbSNP identifiers (rs#s) for CCDC122 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC122 Gene

Variant ID Type Subtype PubMed ID
esv3309153 CNV mobile element insertion 20981092
esv3348757 CNV insertion 20981092
esv3631927 CNV gain 21293372
nsv832595 CNV gain 17160897

Variation tolerance for CCDC122 Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC122 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC122

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC122 Gene

Disorders for CCDC122 Gene

MalaCards: The human disease database

(8) MalaCards diseases for CCDC122 Gene - From: DISEASES

Disorder Aliases PubMed IDs
radial nerve lesion
  • lesion of radial nerve
ulnar nerve lesion
  • lesion of ulnar nerve
indeterminate leprosy
  • uncharacteristic leprosy
borderline leprosy
  • borderline or dimorphous leprosy
radial neuropathy
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC122

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CCDC122: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC122 Gene

Publications for CCDC122 Gene

  1. Genomewide association study of leprosy. (PMID: 20018961) Zhang FR … Liu JJ (The New England journal of medicine 2009) 3 41 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3 54
  5. Association between genetic variants in NOD2, C13orf31, and CCDC122 genes and leprosy among the Chinese Yi population. (PMID: 26235265) Xiong JH … Ning Y (International journal of dermatology 2016) 3 54

Products for CCDC122 Gene

Sources for CCDC122 Gene