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Gene id 728621
Gene Summary    Protein Summary    Diseases    PubMed    

Gene Summary

Gene Symbol CCDC30   Gene   UCSC   Ensembl
Aliases PFD6L, PFDN6L
Gene name coiled-coil domain containing 30
Alternate names coiled-coil domain-containing protein 30, prefoldin subunit 6-like protein,
Gene location 1p34.2 (42456106: 42657189)     Exons: 43     NC_000001.11

Protein Summary

Protein general information Q5VVM6  

Name: Coiled coil domain containing protein 30 (Prefoldin subunit 6 like protein)

Length: 783  Mass: 91333

Tissue specificity: Expressed in brain, kidney, pancreas, placenta, liver, thymus and prostate. {ECO

Sequence MSQEKNEMFESEWSKEREREKQLASGLDTAEKALKVESEELQKSKSELICLYNEVHNLPGESESKDHFLIACDLL
QRENSELETKVLKLSQEFAQLNHFTLGGKTAPSNLITSENTCKDPESNEPILETEIQSRKEETEELCPKLGERKQ
KEIPEESVKEGSFPREGQKEEGSQQNRDMKDEEKEQQLTMKPEEIVRLREELSHINQSLLQSQSSGDSSDDSGAQ
HPSSGEKLKYNQQGEVQQLHQNLHRLQILCNSAENELRYERGQNLDLKQHNSLLQEENIKIKIELKHAQQKLLDS
TKMCSSLTAEYKHCQQKIKELELEVLKHTQSIKSQNNLQEKLVQEKSKVADAEEKILDLQRKLEHAHKVCLTDTC
ISEKQQLEEKIKEATQNEAKVKQQYQEEQQKRKLLYQNVDELHRQVRTLQDKENLLEMTCSQQQSRIQQQEALLK
QLENEKRKYDEHVKSNQELSEKLSKLQQEKEALREEYLRLLKLLNVHVRNYNEKHHQQKVKLQKVKYRLTNEVEL
RDKRINQFEDEIGILQHKIEKEKAIQDQITAQNDTLLLEKRKLQEQVIEQEQLIHSNKWTISSIQSRVLYMDKEN
KQLQENSLRLTQQIGFLERIIRSIHIRRGENLKEFPVPKWWHRGKLASLPPTKKQKEIYSTEVFTSNNAELQHED
ESVPEATEKWKHSEQMETTISDILESEVVNEILPLSNSSFSGKGLVESFASLQETEEIKSKEAMASSKSPEKSPE
NLVCSQNSEAGYINVASLKETHGIQEQDQKSEL
Structural information
Interpro:  IPR031476  
STRING:   ENSP00000339280
Other Databases GeneCards:  CCDC30  Malacards:  CCDC30
Associated diseases References
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

19 (6 controls
, 13 cases)
Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
25753583 Unexplaine
d infertil
ity

46 (17 fertile
men, 29 male pa
tients)
Male infertility Microarray
Show abstract