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CCDC62

gene
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Also known as TSP-NYFLJ40344CT109ERAP75

Summary

CCDC62 (coiled-coil domain containing 62, HGNC:30723) is a protein-coding gene on chromosome 12q24.31, encoding Coiled-coil domain-containing protein 62 (Q6P9F0). Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation.

Enables nuclear estrogen receptor binding activity and transcription coactivator activity. Involved in several processes, including cellular response to estradiol stimulus; estrogen receptor signaling pathway; and positive regulation of transcription by RNA polymerase II. Located in acrosomal vesicle and nucleus. Implicated in spermatogenic failure 67.

Source: NCBI Gene 84660 — RefSeq curated summary.

At a glance

  • GWAS associations: 27
  • Clinical variants (ClinVar): 116 total — 1 pathogenic
  • Phenotypes (HPO): 4
  • MANE Select transcript: NM_201435

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:30723
Approved symbolCCDC62
Namecoiled-coil domain containing 62
Location12q24.31
Locus typegene with protein product
StatusApproved
AliasesTSP-NY, FLJ40344, CT109, ERAP75
Ensembl geneENSG00000130783
Ensembl biotypeprotein_coding
OMIM613481
Entrez84660

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 nonsense_mediated_decay

ENST00000253079, ENST00000341952, ENST00000392441, ENST00000537566, ENST00000539171

RefSeq mRNA: 1 — MANE Select: NM_201435 NM_201435

CCDS: CCDS9238

Canonical transcript exons

ENST00000253079 — 13 exons

ExonStartEnd
ENSE00000895263122792020122792121
ENSE00000895264122797307122797395
ENSE00000895281122801124122801852
ENSE00000895283122806151122806295
ENSE00001120905122798085122798200
ENSE00001250716122813270122813419
ENSE00001326557122788758122788929
ENSE00001334482122785719122785820
ENSE00001334485122781164122781330
ENSE00001334486122777491122777683
ENSE00001378819122823366122823459
ENSE00002207123122826422122827528
ENSE00002218471122774572122774706

Expression profiles

Bgee: expression breadth ubiquitous, 157 present calls, max score 97.35.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0961 / max 75.2682, expressed in 5 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
1285320.04094
1285300.03823
1285280.00814
1285290.00463
1285310.00432

Top tissues by expression

239 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
spermCL:000001997.35gold quality
left testisUBERON:000453390.27gold quality
right testisUBERON:000453489.35gold quality
adult organismUBERON:000702388.47gold quality
testisUBERON:000047387.62gold quality
tibialis anteriorUBERON:000138580.06silver quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047375.82gold quality
ileal mucosaUBERON:000033168.18gold quality
upper leg skinUBERON:000426266.08gold quality
skin of hipUBERON:000155464.46gold quality
calcaneal tendonUBERON:000370162.65gold quality
cortical plateUBERON:000534362.49gold quality
amniotic fluidUBERON:000017362.44gold quality
gastrocnemiusUBERON:000138862.40gold quality
pancreatic ductal cellCL:000207962.39silver quality
muscle of legUBERON:000138362.32gold quality
deltoidUBERON:000147662.03silver quality
oral cavityUBERON:000016761.43gold quality
hindlimb stylopod muscleUBERON:000425259.84gold quality
prefrontal cortexUBERON:000045158.53gold quality
stromal cell of endometriumCL:000225558.06gold quality
Brodmann (1909) area 9UBERON:001354057.86gold quality
cerebellar vermisUBERON:000472057.74gold quality
esophagus squamous epitheliumUBERON:000692057.71gold quality
primary visual cortexUBERON:000243657.68gold quality
corpus callosumUBERON:000233657.34gold quality
anterior cingulate cortexUBERON:000983557.27gold quality
cerebellar cortexUBERON:000212957.23gold quality
cerebellar hemisphereUBERON:000224557.15gold quality
leukocyteCL:000073856.41gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3yes5.50

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

TargetRegulation
CXCL12Activation

Upstream regulators (CollecTRI, top): ESR2

Literature-anchored findings (GeneRIF, showing 8)

  • ERAP75 functions as a novel coactivator that can modulate ER alpha function in the prostate stromal cells. (PMID:18563714)
  • Role of CCDC62/ERAP75 as a novel coactivator in prostate cancer cells that can modulate estrogen receptor beta transactivation and receptor function. (PMID:19126643)
  • serological survey of 191 cancer patients with a range of different cancers by ELISA revealed antibodies to CCDC62-2 in 13 patients, including stomach cancer (PMID:19165854)
  • STK39 (rs2102808) and CCDC62/HIP1R (rs12817488) do not appear to influence PD risk. (PMID:24312176)
  • Study demonstrated a significant association between rs12817488 and sporadic Parkinson’s disease with gender variations in a Chinese cohort (PMID:24335092)
  • our findings support the conclusion that the rs12817488 in CCDC62/HIP1R polymorphism may increase the risk of Parkinson’s disease in the Chinese Han population. (PMID:25818163)
  • there is a relationship between rs12817488 and Parkinson’s disease risk in Chinese population [meta-analysis] (PMID:27035708)
  • This study shown CCDC62 genetic variants for Parkinson’s disease are associated with the risk of incident Parkinson’s disease in the general population and with impairment in daily functioning in individuals without clinical parkinsonism. (PMID:27269966)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusCcdc62ENSMUSG00000061882
rattus_norvegicusCcdc62ENSRNOG00000038002

Protein

Protein identifiers

Coiled-coil domain-containing protein 62 — Q6P9F0 (reviewed: Q6P9F0)

Alternative names: Protein TSP-NY, Protein aaa

All UniProt accessions (2): Q6P9F0, F5H0F1

UniProt curated annotations — full annotation on UniProt →

Function. Nuclear receptor coactivator that can enhance preferentially estrogen receptors ESR1 and ESR2 transactivation. Also modulates progesterone/PGR, glucocorticoid/NR3C1 and androgen/AR receptors transactivation, although at lower level; little effect on vitamin D receptor/VDR. Required for normal spermiogenesis. It probably plays a role in acrosome formation.

Subunit / interactions. 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. Interacts with GOPC.

Subcellular location. Cytoplasm. Nucleus. Cytoplasmic vesicle. Secretory vesicle. Acrosome.

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

Disease relevance. Spermatogenic failure 67 (SPGF67) [MIM:619803] An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia. The disease may be caused by variants affecting the gene represented in this entry.

Domain organisation. Contains 2 Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The first one is essential for the association with ESR1 and ESR2.

Isoforms (3)

UniProt IDNamesCanonical?
Q6P9F0-11yes
Q6P9F0-22
Q6P9F0-33

RefSeq proteins (1): NP_958843* (*=MANE)

Domains & families (InterPro)

UniProt features (21 total): sequence variant 5, splice variant 3, region of interest 2, mutagenesis site 2, sequence conflict 2, coiled-coil region 2, short sequence motif 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q6P9F0-F165.070.38

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Mutagenesis-validated functional residues (2):

PositionPhenotype
637–638abrogates interaction with esr1 and esr2.
653–654no effect on interaction with esr1 or esr2.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 110 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOCC_SECRETORY_GRANULE, GOBP_MALE_GAMETE_GENERATION, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, GOBP_BLASTOCYST_DEVELOPMENT, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_RESPONSE_TO_STEROID_HORMONE, GOBP_RESPONSE_TO_HORMONE

GO Biological Process (5): blastocyst hatching (GO:0001835), spermatid development (GO:0007286), estrogen receptor signaling pathway (GO:0030520), positive regulation of transcription by RNA polymerase II (GO:0045944), cellular response to estradiol stimulus (GO:0071392)

GO Molecular Function (3): transcription coactivator activity (GO:0003713), nuclear estrogen receptor binding (GO:0030331), protein binding (GO:0005515)

GO Cellular Component (5): acrosomal vesicle (GO:0001669), nucleus (GO:0005634), microtubule organizing center (GO:0005815), cytoplasm (GO:0005737), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
positive regulation of DNA-templated transcription2
cellular anatomical structure2
blastocyst development1
hatching1
germ cell development1
spermatid differentiation1
nuclear receptor-mediated steroid hormone signaling pathway1
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
response to estradiol1
cellular response to lipid1
cellular response to oxygen-containing compound1
transcription coregulator activity1
nuclear receptor binding1
binding1
secretory granule1
intracellular membrane-bounded organelle1
microtubule cytoskeleton1
intracellular anatomical structure1
cytoplasm1
intracellular vesicle1

Protein interactions and networks

STRING

542 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
CCDC62ACMSDQ8TDX5777
CCDC62MCCC1Q96RQ3774
CCDC62HIP1RO75146736
CCDC62SYT11Q9BT88721
CCDC62SYT12Q8IV01720
CCDC62GAKO14976700
CCDC62STK39Q9UEW8693
CCDC62SPACA1Q9HBV2624
CCDC62STBD1O95210616
CCDC62DGKQP52824602
CCDC62ESR2Q92731601
CCDC62RIT2Q99578596
CCDC62DPY19L2Q6NUT2595
CCDC62SPATA16Q9BXB7581
CCDC62FAM47EQ6ZV65580

IntAct

17 interactions, top by confidence:

ABTypeScore
CFTRESYT2psi-mi:“MI:0914”(association)0.710
CCDC62ESR2psi-mi:“MI:0915”(physical association)0.600
ESR2CCDC62psi-mi:“MI:0407”(direct interaction)0.600
ESR2CCDC62psi-mi:“MI:0915”(physical association)0.600
CFTRPLEKHG3psi-mi:“MI:0914”(association)0.480
CCDC62ESR2psi-mi:“MI:0403”(colocalization)0.460
CCDC62ESR2psi-mi:“MI:0915”(physical association)0.460
CCDC62psi-mi:“MI:0915”(physical association)0.400
CCDC62SDHApsi-mi:“MI:0915”(physical association)0.400
CCDC62PLECpsi-mi:“MI:0915”(physical association)0.400
CCDC62psi-mi:“MI:0914”(association)0.350

BioGRID (5): CCDC62 (Proximity Label-MS), CCDC62 (Proximity Label-MS), CCDC62 (Affinity Capture-MS), CCDC62 (Affinity Capture-RNA), STIM1 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A1W2P884, A0P8Z5, A2AM05, A2BGP7, A7E3D8, A8MT70, B0CM36, B1WC58, E9PVD1, O75410, O95447, Q1RMS0, Q2M243, Q3UPP8, Q3V036, Q4KMA0, Q4R3Q7, Q4R3X1, Q5PQS2, Q5R9L2, Q5U465, Q5U5Q9, Q5VVM6, Q5VX52, Q5XI03, Q66KC9, Q6NRH3, Q6NZK5, Q6P9F0, Q6PJW8, Q6Y685, Q70YC5, Q7Z4H7, Q86T90, Q86Z20, Q8BFU3, Q8BG89, Q8BVF4, Q8CDM4, Q8IW35

Diamond homologs: E9PVD1, Q6P9F0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

116 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance94
Likely benign6
Benign3

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
1345024NM_201435.5(CCDC62):c.442C>T (p.Gln148Ter)Pathogenic

SpliceAI

2389 predictions. Top by Δscore:

VariantEffectΔscore
12:122774703:CCAGG:Cdonor_loss1.0000
12:122777460:ATTTT:Aacceptor_gain1.0000
12:122777464:T:TAacceptor_gain1.0000
12:122777483:A:AGacceptor_gain1.0000
12:122777483:AT:Aacceptor_gain1.0000
12:122777484:T:Gacceptor_gain1.0000
12:122777484:T:TAacceptor_gain1.0000
12:122777486:TTTAG:Tacceptor_loss1.0000
12:122777487:TTAGA:Tacceptor_loss1.0000
12:122777488:TA:Tacceptor_loss1.0000
12:122777489:A:AGacceptor_gain1.0000
12:122777489:AGAAC:Aacceptor_loss1.0000
12:122777490:G:GAacceptor_gain1.0000
12:122777490:GA:Gacceptor_gain1.0000
12:122777490:GAA:Gacceptor_gain1.0000
12:122777490:GAAC:Gacceptor_gain1.0000
12:122777490:GAACA:Gacceptor_gain1.0000
12:122777659:G:GTdonor_gain1.0000
12:122777679:AGAAG:Adonor_loss1.0000
12:122777680:GAAGG:Gdonor_loss1.0000
12:122777681:AAGGT:Adonor_loss1.0000
12:122777685:T:Adonor_loss1.0000
12:122785715:GTA:Gacceptor_loss1.0000
12:122785717:A:ACacceptor_loss1.0000
12:122785718:GGCTA:Gacceptor_gain1.0000
12:122788926:AAAGG:Adonor_loss1.0000
12:122788927:AAGGT:Adonor_loss1.0000
12:122788928:AG:Adonor_gain1.0000
12:122788928:AGGTA:Adonor_loss1.0000
12:122788929:GG:Gdonor_gain1.0000

AlphaMissense

4557 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
12:122777573:G:CR40P0.999
12:122777585:T:CL44P0.999
12:122785777:T:CL152P0.999
12:122785798:T:CL159P0.999
12:122788776:G:CA173P0.999
12:122777534:G:CR27P0.998
12:122777543:T:CL30P0.998
12:122777639:G:CR62P0.998
12:122785786:G:CR155P0.998
12:122785820:G:CK166N0.998
12:122785820:G:TK166N0.998
12:122792077:T:CL243P0.998
12:122777552:T:CL33P0.997
12:122777564:T:CL37S0.997
12:122777626:T:AW58R0.997
12:122777626:T:CW58R0.997
12:122777666:G:CR71P0.997
12:122781170:T:CL79P0.997
12:122781275:T:CL114P0.997
12:122785756:T:CL145P0.997
12:122785794:G:CA158P0.997
12:122785816:T:CL165P0.997
12:122788839:G:CA194P0.997
12:122792026:T:CL226P0.997
12:122797388:T:CL285P0.997
12:122777618:T:CL55P0.996
12:122777628:G:CW58C0.996
12:122777628:G:TW58C0.996
12:122777657:T:CL68P0.996
12:122781200:T:CL89P0.996

dbSNP variants (sampled 300 via entrez): RS1000017450 (12:122793303 A>G,T), RS1000035780 (12:122790401 A>C), RS1000111074 (12:122800565 A>C,T), RS1000194091 (12:122787089 G>A,T), RS1000354213 (12:122826921 T>C), RS1000432704 (12:122774158 G>A), RS1000478962 (12:122795968 G>A), RS1000703404 (12:122791694 C>T), RS1000768063 (12:122795753 G>C), RS1000772849 (12:122803838 C>T), RS1000894826 (12:122827244 A>T), RS1000975137 (12:122821432 T>C), RS1000998558 (12:122772627 C>T), RS1001059774 (12:122814794 C>T), RS1001068798 (12:122805806 G>A)

Disease associations

OMIM: gene MIM:613481 | disease phenotypes: MIM:619803

GenCC curated gene-disease

Mondo (1): spermatogenic failure 67 (MONDO:0030718)

Orphanet (0):

HPO phenotypes

4 total (4 of 4 shown, HPO-id order):

HPOTerm
HP:0000007Autosomal recessive inheritance
HP:0003251Male infertility
HP:0011462Young adult onset
HP:0012205Globozoospermia

GWAS associations

27 associations (top):

StudyTraitp-value
GCST000959_10Parkinson’s disease3.000000e-13
GCST002544_26Parkinson’s disease6.000000e-12
GCST003984_14Parkinson’s disease3.000000e-10
GCST007277_17Tourette syndrome2.000000e-06
GCST010991_41Parkinson’s disease2.000000e-10
GCST90000025_1005Appendicular lean mass5.000000e-14
GCST90020024_427A body shape index7.000000e-14
GCST90020024_429A body shape index4.000000e-09
GCST90020024_431A body shape index7.000000e-14
GCST90020025_34Waist-to-hip ratio adjusted for BMI2.000000e-12
GCST90020025_38Waist-to-hip ratio adjusted for BMI4.000000e-19
GCST90020025_39Waist-to-hip ratio adjusted for BMI3.000000e-08
GCST90020025_40Waist-to-hip ratio adjusted for BMI4.000000e-08
GCST90020025_43Waist-to-hip ratio adjusted for BMI1.000000e-13
GCST90020025_44Waist-to-hip ratio adjusted for BMI6.000000e-13
GCST90020027_1211Waist-hip index2.000000e-12
GCST90020027_1240Waist-hip index2.000000e-18
GCST90020027_1241Waist-hip index2.000000e-08
GCST90020027_1242Waist-hip index2.000000e-08
GCST90020027_1245Waist-hip index2.000000e-13
GCST90020027_1246Waist-hip index7.000000e-12
GCST90020027_1248Waist-hip index8.000000e-19
GCST90020028_1252Hip circumference adjusted for BMI2.000000e-14
GCST90020029_353Waist circumference adjusted for body mass index3.000000e-10
GCST90020029_354Waist circumference adjusted for body mass index4.000000e-08
GCST90020029_355Waist circumference adjusted for body mass index2.000000e-08
GCST90020029_357Waist circumference adjusted for body mass index3.000000e-09

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0004980appendicular lean mass
EFO:0007789BMI-adjusted waist circumference
EFO:0007788BMI-adjusted waist-hip ratio
EFO:0008039BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

ChemicalActions (top 5)PubMed papers
aristolochic acid Iincreases expression1
2-methyl-4-isothiazolin-3-oneincreases expression1
potassium chromate(VI)affects cotreatment, increases expression1
epigallocatechin gallateaffects cotreatment, increases expression1
jinfukangaffects cotreatment, decreases expression1
theaflavin-3,3’-digallateaffects expression1
Benzo(a)pyreneaffects methylation, decreases methylation1
Cisplatinaffects cotreatment, decreases expression1
Fenfluramineincreases expression1
Quercetinincreases expression1
Silicon Dioxidedecreases expression1
Acrylamideincreases expression1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): spermatogenic failure 67

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.4
BioBTree
v2.0.2

Sources 74

This page pulls from 74 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomerefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot