CCDC62 Gene (Protein Coding)

Coiled-Coil Domain Containing 62

GC12P123059
GIFtS:
34
See more...

Aliases for CCDC62 Gene

Aliases for CCDC62 Gene

  • Coiled-Coil Domain Containing 62 2 3 5
  • Coiled-Coil Domain-Containing Protein 62 3 4
  • Cancer/Testis Antigen 109 2 3
  • ERAP75 2 3
  • TSP-NY 2 3
  • CT109 2 3
  • Coiled-Coil Domain-Containing Protein 60 3
  • Testis-Specific Protein TSP-NY 3
  • Protein TSP-NY 4
  • Aaa-Protein 3
  • Protein Aaa 4
  • FLJ40344 2
  • CCDC62 5

External Ids for CCDC62 Gene

Previous GeneCards Identifiers for CCDC62 Gene

  • GC12P121784
  • GC12P121825
  • GC12P123259
  • GC12P120219
  • GC12P122774
  • GC12P122863

Summaries for CCDC62 Gene

GeneCards Summary for CCDC62 Gene

CCDC62 (Coiled-Coil Domain Containing 62) is a Protein Coding gene. Diseases associated with CCDC62 include Postencephalitic Parkinson Disease and Spermatogenic Failure 9. Gene Ontology (GO) annotations related to this gene include nuclear receptor transcription coactivator activity and estrogen receptor binding.

UniProtKB/Swiss-Prot Summary for CCDC62 Gene

  • Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR.

Additional gene information for CCDC62 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC62 Gene

Genomics for CCDC62 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CCDC62 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
GH12J122773 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +1.1 1061 2.2 ZBTB10 FEZF1 CEBPA ELF1 ZIC2 ZNF639 KLF7 ZNF341 SIN3A ZNF843 CCDC62 HSALNG0094681 HSALNG0094682 HCAR1 KNTC1 RSRC2 VPS37B DNAH10 HSALNG0094684 HIP1R
GH12J122788 Promoter 0.4 EPDnew 250.4 +15.2 15187 0.1 JUND CCDC62 VPS37B HCAR1 HSALNG0094682 HSALNG0094684 HIP1R
GH12J122870 Promoter/Enhancer 1.5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.5 +98.6 98627 4.3 ETS1 ZIC2 SIN3A IRF4 MAFF ZNF341 RXRA EBF1 YY1 ZNF316 VPS37B HIP1R CCDC62 B3GNT4 piR-46783 ENSG00000280138 lnc-ABCB9-2
GH12J122866 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.5 +94.1 94138 2.9 CEBPA POLR2A CTCF SIN3A REST SMAD4 SAP130 RXRA RARA FOXA2 piR-46783 piR-48687 VPS37B HIP1R CCDC62 PITPNM2 B3GNT4 ENSG00000256152
GH12J122419 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.4 -351.5 -351512 4.3 TBP NR2C1 IKZF1 SMAD5 POLR2A CTCF NONO ZIC2 CEBPB SIN3A CLIP1 RSRC2 ZCCHC8 LINC01089 ENSG00000252192 ENSG00000272849 KDM2B MTRFR SBNO1 PITPNM2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC62 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC62

Top Transcription factor binding sites by QIAGEN in the CCDC62 gene promoter:
  • AML1a
  • C/EBPalpha
  • HSF1 (long)
  • HSF2
  • Pax-2
  • Pax-2a
  • Pax-6
  • POU2F1
  • POU2F1a
  • RSRFC4

Genomic Locations for CCDC62 Gene

Latest Assembly
chr12:122,773,621-122,827,528
(GRCh38/hg38)
Size:
53,908 bases
Orientation:
Plus strand

Previous Assembly
chr12:123,259,119-123,312,075
(GRCh37/hg19 by Entrez Gene)
Size:
52,957 bases
Orientation:
Plus strand

chr12:123,258,874-123,312,075
(GRCh37/hg19 by Ensembl)
Size:
53,202 bases
Orientation:
Plus strand

Genomic View for CCDC62 Gene

Genes around CCDC62 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC62 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC62 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CCDC62 Gene

Proteins for CCDC62 Gene

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  • Protein details for CCDC62 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P9F0-CCD62_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 62
    Protein Accession:
    Q6P9F0
    Secondary Accessions:
    • A8K8V1
    • B3KUP3
    • Q6ZVF2
    • Q86VJ0
    • Q9BYZ5

    Protein attributes for CCDC62 Gene

    Size:
    684 amino acids
    Molecular mass:
    77748 Da
    Quaternary structure:
    • Interacts with ESR1 and ESR2 in the presence of estradiol/E2. The interaction with ESR2 recruits CCDC62 to ER target genes, including cyclin-D1/CCND1 AP-1 promoter.
    SequenceCaution:
    • Sequence=AAG49396.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC62 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC62 Gene

Protein Expression for CCDC62 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CCDC62 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC62 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CCDC62 Gene

Domains & Families for CCDC62 Gene

Gene Families for CCDC62 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC62 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for CCDC62 Gene

GenScript: Design optimal peptide antigens:
  • Protein aaa (CCD62_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P9F0

UniProtKB/Swiss-Prot:

CCD62_HUMAN :
  • Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The first one is essential for the association with ESR1 and ESR2.
Domain:
  • Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The first one is essential for the association with ESR1 and ESR2.
genes like me logo Genes that share domains with CCDC62: view

Function for CCDC62 Gene

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  6. Cell Lines for research

Molecular function for CCDC62 Gene

UniProtKB/Swiss-Prot Function:
Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Modulates also progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR.

Phenotypes From GWAS Catalog for CCDC62 Gene

Gene Ontology (GO) - Molecular Function for CCDC62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19126643
GO:0030331 estrogen receptor binding IPI 18563714
GO:0030374 nuclear receptor transcription coactivator activity IPI 18563714
genes like me logo Genes that share ontologies with CCDC62: view
genes like me logo Genes that share phenotypes with CCDC62: view

Animal Models for research

miRNA for CCDC62 Gene

miRTarBase miRNAs that target CCDC62

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC62

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC62 Gene

Localization for CCDC62 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC62 Gene

Cytoplasm. Nucleus. Note=Mainly nuclear.

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 CCDC62 gene
Compartment Confidence
nucleus 5
plasma membrane 4
cytosol 2
cytoskeleton 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for CCDC62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19126643
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with CCDC62: view

Pathways & Interactions for CCDC62 Gene

PathCards logo

SuperPathways for CCDC62 Gene

No Data Available

Interacting Proteins for CCDC62 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q6P9F0-CCD62_HUMAN ENSP00000253079 for CCDC62 Gene via UniProtKB STRING IID

GPS-Prot Interaction Network for CCDC62

Gene Ontology (GO) - Biological Process for CCDC62 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001835 blastocyst hatching IEA --
GO:0045944 positive regulation of transcription by RNA polymerase II IPI 18563714
GO:0071392 cellular response to estradiol stimulus IDA 18563714
genes like me logo Genes that share ontologies with CCDC62: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC62 Gene

Drugs & Compounds for CCDC62 Gene

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No Compound Related Data Available

Transcripts for CCDC62 Gene

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mRNA/cDNA for CCDC62 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
6 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 CCDC62

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC62 Gene

No ASD Table

Relevant External Links for CCDC62 Gene

GeneLoc Exon Structure for
CCDC62

Expression for CCDC62 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC62 Gene

mRNA expression in normal human tissues for CCDC62 Gene
mRNA expression by BioGPS for CCDC62 GenemRNA expression by GTEx for CCDC62 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for CCDC62 Gene

This gene is overexpressed in Testis (x34.2).

Protein differential expression in normal tissues from HIPED for CCDC62 Gene

This gene is overexpressed in Monocytes (31.1), Rectum (29.3), and Heart (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC62 Gene



Protein tissue co-expression partners for CCDC62 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC62

SOURCE GeneReport for Unigene cluster for CCDC62 Gene:

Hs.592008

mRNA Expression by UniProt/SwissProt for CCDC62 Gene:

Q6P9F0-CCD62_HUMAN
Tissue specificity: Highly expressed in adult testis. Expressed in both prostate epithelial and stromal cells, with predominant expression in epithelial cells (at protein level) (PubMed:19126643). Not detected in prostate by RT-PCR (PubMed:19165854). Overexpressed in various cancers.

Evidence on tissue expression from TISSUES for CCDC62 Gene

  • Lung(5)
  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with CCDC62: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC62 Gene

Orthologs for CCDC62 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC62 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CCDC62 30 31
  • 99.35 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CCDC62 30 31
  • 86.23 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CCDC62 30 31
  • 86.22 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ccdc62 30
  • 81.63 (n)
Mouse
(Mus musculus)
 Mammalia Ccdc62 30 17 31
  • 80.11 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 69 (a)
 OneToMany
-- 31
  • 55 (a)
 OneToMany
-- 31
  • 27 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia CCDC62 31
  • 57 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ccdc62 30
  • 63.19 (n)
Zebrafish
(Danio rerio)
 Actinopterygii hip1ra 30 31
  • 52.32 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 33 (a)
 OneToOne
Species where no ortholog for CCDC62 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)
  • Chicken (Gallus gallus)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 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 CCDC62 Gene

ENSEMBL:
Gene Tree for CCDC62 (if available)
TreeFam:
Gene Tree for CCDC62 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC62: view image

Paralogs for CCDC62 Gene

No data available for Paralogs for CCDC62 Gene

Variants for CCDC62 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC62 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs61735889 Benign: not provided 122,801,238(+) G/A
NM_201435.5(CCDC62):c.1092G>A (p.Gln364=) 		NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS
rs78361567 Benign: not provided 122,798,161(+) A/T
NM_201435.5(CCDC62):c.938A>T (p.Tyr313Phe) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
VAR_035498 A colorectal cancer sample p.Gln31Glu
rs17855031 - p.Thr394Lys
rs58131754 - p.Thr141Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CCDC62 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 CCDC62 Gene

Variant ID Type Subtype PubMed ID
nsv1145636 CNV deletion 24896259

Variation tolerance for CCDC62 Gene

Residual Variation Intolerance Score: 82.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.57; 65.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC62 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC62

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC62 Gene

Disorders for CCDC62 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CCDC62 Gene - From: COP

Disorder Aliases PubMed IDs
postencephalitic parkinson disease
  • postencephalitic parkinsonism
spermatogenic failure 9
  • spgf9
parkinson disease, late-onset
  • pd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC62

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CCDC62: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC62 Gene

Publications for CCDC62 Gene

  1. CCDC62/ERAP75 functions as a coactivator to enhance estrogen receptor beta-mediated transactivation and target gene expression in prostate cancer cells. (PMID: 19126643) Chen M … Yeh S (Carcinogenesis 2009) 2 3 4
  2. ERAP75 functions as a coactivator to enhance estrogen receptor alpha transactivation in prostate stromal cells. (PMID: 18563714) Chen M … Yeh S (The Prostate 2008) 2 3 4
  3. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. (PMID: 21292315) International Parkinson Disease Genomics Consortium … Wood NW (Lancet (London, England) 2011) 3 41
  4. Identification of CCDC62-2 as a novel cancer/testis antigen and its immunogenicity. (PMID: 19165854) Domae S … Ono T (International journal of cancer 2009) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

ExternalLinks

View latest publications for CCDC62 gene in Mastermind

Products for CCDC62 Gene

Sources for CCDC62 Gene