Aliases for CCDC62 Gene
Aliases for CCDC62 Gene
External Ids for CCDC62 Gene
- HGNC: 30723
- Entrez Gene: 84660
- Ensembl: ENSG00000130783
- OMIM: 613481
- UniProtKB: Q6P9F0
Previous GeneCards Identifiers for CCDC62 Gene
- GC12P121784
- GC12P121825
- GC12P123259
- GC12P120219
Summaries for CCDC62 Gene
GeneCards Summary for CCDC62 Gene
CCDC62 (Coiled-Coil Domain Containing 62) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include ligand-dependent nuclear receptor transcription coactivator activity and estrogen receptor binding.
UniProtKB/Swiss-Prot 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
- Monarch Initiative
- Search for CCDC62 at DataMed
- Search for CCDC62 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC62 Gene
Genomics for CCDC62 Gene
GeneHancer (GH) Regulatory Elements for CCDC62 Gene
Promoters and enhancers for CCDC62 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 CCDC62 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CCDC62 gene promoter:
-
- Pax-6
- C/EBPalpha
- Pax-2a
- Pax-2
- AML1a
- HSF2
- RSRFC4
- POU2F1
- POU2F1a
- HSF1 (long)
Regulatory Element Products
Genomic Locations for CCDC62 Gene
Genomic Locations for CCDC62 Gene
- chr12:122,774,327-122,827,528
- (GRCh38/hg38)
- Size:
- 53,202 bases
- Orientation:
- Plus strand
- chr12:123,258,874-123,312,075
- (GRCh37/hg19)
- 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:
-
- 12q24.31 by Entrez Gene
- 12q24.31 by HGNC
- 12q24.31 by Ensembl
CCDC62 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 CCDC62 Gene
Proteins for CCDC62 Gene
-
Protein details for CCDC62 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6P9F0-CCD62_HUMAN
- Recommended name:
- Coiled-coil domain-containing protein 62
- Protein Accession:
- Q6P9F0
- 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=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for CCDC62 Gene
Post-translational modifications for CCDC62 Gene
Other Protein References for CCDC62 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for CCDC62
-
Abcam antibodies for CCDC62
- Invitrogen Antibodies for CCDC62 (AFLGC-CCDC62)
- Search GeneTex for Antibodies for CCDC62
Protein Products
-
OriGene Purified Proteins for CCDC62
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- antibodies-online: Search results for 3 available CCDC62 Proteins ranked by validation data
- Compare Top CCDC62 Proteins
-
Quality Products:
- Search GeneTex for Proteins for CCDC62
Assay Products
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:
Graphical View of Domain Structure for InterPro Entry
Q6P9F0UniProtKB/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.
Function for CCDC62 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030331 | estrogen receptor binding | IPI | 18563714 |
| GO:0030374 | ligand-dependent nuclear receptor transcription coactivator activity | IPI | 18563714 |
Phenotypes for CCDC62 Gene
- MGI mutant phenotypes for CCDC62:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CCDC62:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC62
-
CRISPR Products
-
OriGene CRISPR knockouts for CCDC62
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- genomics-online: gRNA clones - Search results for available CCDC62 gene related products
- Applied Biological Materials CRISPR for CCDC62
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC62
- GenScript: Design CRISPR guide RNA sequences for CCDC62
miRNA for CCDC62 Gene
- miRTarBase miRNAs that target CCDC62
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC62
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- genomics-online: shRNA clones - Search results for available CCDC62 gene related products
Clone Products
-
OriGene ORF clones in human for CCDC62
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CCDC62
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CCDC62
- genomics-online: cdna clones - Search results for available CCDC62 gene related products
- orf clones - Search results for available CCDC62 gene related products
- Applied Biological Materials Clones for CCDC62
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| nucleus | 5 |
| cytosol | 2 |
- Nucleoplasm (2)
- Plasma membrane (2)
| 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 | -- |
Pathways & Interactions for CCDC62 Gene
No Data Available
Interacting Proteins for CCDC62 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IPI | 18563714 |
| GO:0071392 | cellular response to estradiol stimulus | IDA | 18563714 |
No data available for Pathways by source and SIGNOR curated interactions for CCDC62 Gene
Transcripts for CCDC62 Gene
mRNA/cDNA for CCDC62 Gene
- (8) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (2) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000253079 3546 bps (uc001udc.4)
- ENST00000392441 2936 bps (uc058uok.1)
- ENST00000341952 2479 bps (uc058uol.1)
- ENST00000539171 331 bps (uc058uom.1)
- ENST00000537566 3537 bps (uc001ude.4)
Unigene Clusters for CCDC62 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCDC62
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CCDC62
- genomics-online: gRNA clones - Search results for available CCDC62 gene related products
- Applied Biological Materials CRISPR for CCDC62
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC62
- GenScript: Design CRISPR guide RNA sequences for CCDC62
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CCDC62
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC62
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Clone Products
-
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- genomics-online: cdna clones - Search results for available CCDC62 gene related products
- orf clones - Search results for available CCDC62 gene related products
- Applied Biological Materials Clones for CCDC62
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for CCDC62 Gene
mRNA differential expression in normal tissues according to GTEx for CCDC62 Gene
This gene is overexpressed in Testis (x34.2).
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
NURSA nuclear receptor signaling pathways regulating expression of CCDC62 Gene:
CCDC62SOURCE GeneReport for Unigene cluster for CCDC62 Gene:
Hs.592008mRNA 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(4.1)
Primer Products
-
OriGene qPCR primer pairs for CCDC62
- genomics-online: primer clones - Search results for available CCDC62 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCDC62 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CCDC62 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CCDC62 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Ccdc62 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccdc62 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | CCDC62 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccdc62 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | hip1ra 34 33 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for CCDC62 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)
- 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 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
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| VAR_035498 | A colorectal cancer sample | p.Gln31Glu | |||
| rs1000017450 | -- | 122,793,303(+) | A/G | intron_variant | |
| rs1000035780 | -- | 122,790,401(+) | A/C | intron_variant | |
| rs1000111074 | -- | 122,800,565(+) | A/T | intron_variant | |
| rs1000194091 | -- | 122,787,089(+) | G/A | genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1145636 | CNV | deletion | 24896259 |
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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC62 Gene
Disorders for CCDC62 Gene
Additional Disease Information for CCDC62
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No disorders were found for CCDC62 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC62 Gene
Publications for CCDC62 Gene
- 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 58
- 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 58
- 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 44 58
- 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 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
Products for CCDC62 Gene
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Sources for CCDC62 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt