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Gene id 133957
Gene Summary    Protein Summary    Diseases    PubMed    

Gene Summary
Gene Symbol CCDC127   Gene   UCSC   Ensembl
Gene name coiled-coil domain containing 127
Alternate names coiled-coil domain-containing protein 127,
Gene location 5p15.33 (218152: 196867)     Exons: 3     NC_000005.10

Protein Summary
Protein general information Q96BQ5  

Name: Coiled coil domain containing protein 127

Length: 260  Mass: 30834

Sequence MNNLNDPPNWNIRPNSRADGGDGSRWNYALLVPMLGLAAFRWIWSRESQKEVEKEREAYRRRTAAFQQDLEAKYH
AMISENRRAVAQLSLELEKEQNRTASYREALISQGRKLVEEKKLLEQERAQVMQEKRQVQPLRSAYLSCLQREEN
WQRRARLLLKEFEAVLTERQNIYCSLFLPRSKRLEIEKSLLVRASVDPVAADLEMAAGLTDIFQHDTYCGDVWNT
NKRQNGRLMWLYLKYWELVVELKKFKRVEEAILEK
Structural information
Interpro:  IPR034607  
MINT:  
STRING:   ENSP00000296824
Other Databases GeneCards:  CCDC127  Malacards:  CCDC127

Diseases

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Associated diseases References
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia
13 (5 controls,
8 cases)
 Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
17327269 Teratozoos
permia
19 (6 controls
, 13 cases)
 Male infertility GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
 Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm
18
 Male infertility GSE26881
 Show abstract
28606200 Cryptorchi
dism
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
 Male infertility MeDIP-Seq
 Show abstract