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Gene id 79925
Gene Summary    Diseases    PubMed    

Gene Summary
Gene Symbol SPEF2   Gene   UCSC   Ensembl
Aliases CT122, KPL2
Gene name sperm flagellar 2
Alternate names sperm flagellar protein 2, cancer/testis antigen 122, testis tissue sperm-binding protein Li 47a,
Gene location 5p13.2 (35617366: 35814610)     Exons: 45     NC_000006.12
OMIM 610172

Diseases

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Associated diseases References
Celiac disease GAD: 19240061
Multiple sclerosis GAD: 21244703
Male cell differentiation MIK: 28619825
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Cryptorchidism MIK: 28606200
Hypospermatogenesis MIK: 28361989
Male infertility MIK: 28619825
Multiple morphological abnormalities of the sperm flagella (MMAF) MIK: 31048344
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
28619825 Male cell
differenci
ation, Mal
e infertil
ity

Male infertility
Show abstract
31151990 Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF)
 c. 12delC, c. 1745-2A > G, c. 4102 G > T and c. 4323dupA
42 patients wit
h severe infert
ility and MMAF
 Male infertility NGS
 Show abstract
31942643 Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF) with
out primar
y ciliary
dyskinesia
(PCD)
 c.2507+5delG, c.C4096T: p.R1366X, c.2649dupA: p.N887Efs*2, c.3400delA: p.I1134fs Chinese
 682 (45 unrelat
ed Chinese fami
lies, 637 contr
ols, including
219 with oligoa
sthenospermia,
195 with non-ob
structive azoos
permia, and 223
fertile contro
ls)
 Male infertility NGS
 Show abstract
31048344 Multiple m
orphologic
al abnorma
lities of
the sperm
flagella (
MMAF)
 c.910C>T (p.Arg304*) and c.3400delA (p.Ile1134Serfs*13), c.3240delT (p.Phe1080Leufs*2) Han Chi
nese
 50 Han Chinese
probands with M
MAF
 Male infertility NGS
 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
28361989 Hyposperma
togenesis
6 (3 controls,
3 Klienfelter s
yndrome
 Male infertility Microarray
 Show abstract
31037746 Spermatoge
nic defect
s
28 men with az
oospermia
 Male infertility Microarray
 Show abstract