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Gene id 54937
Gene Summary     SNPs    Protein Summary    Diseases    PubMed    

Gene Summary

Gene Symbol SOHLH2   Gene   UCSC   Ensembl
Aliases SOSF2, SPATA28, TEB1, bHLHe81
Gene name spermatogenesis and oogenesis specific basic helix-loop-helix 2
Alternate names spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2, spermatogenesis associated 28, testicular secretory protein Li 50, testicular secretory protein Li 51,
Gene location 13q13.3 (36214614: 36168207)     Exons: 12     NC_000013.11
Gene summary(Entrez) This gene encodes one of testis-specific transcription factors which are essential for spermatogenesis, oogenesis and folliculogenesis. This gene is located on chromosome 13. The proteins encoded by this gene and another testis-specific transcription fact
OMIM 616066

SNPs


rs6563386

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36202894C>A
NC_000013.11   g.36202894C>G
NC_000013.11   g.36202894C>T
NC_000013.10   g.36777031C>A
NC_000013.10   g.36777031C>G
NC_000013.10   g.36777031C>T
NG_033786.1   g.16722G>T
NG_033786.1   g.16722G>C
NG_033786.1   g.16722G>A|SEQ=[C/A/G/T]|GENE=

rs1328641

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36170892C>T
NC_000013.10   g.36745029C>T
NG_033786.1   g.48724G>A|SEQ=[C/T]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

rs1328626

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000013.11   g.36204635C>A
NC_000013.10   g.36778772C>A
NG_033786.1   g.14981G>T|SEQ=[C/A]|GENE=SOHLH2
CCDC169-SOHLH2   100526761

Protein Summary

Associated diseases References
Premature ovarian failure (POF) INFBASE: 24524832
Non obstructive azoospermia MIK: 25463635
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Important for spermaogonial differentiation MIK: 22056784
Male infertility MIK: 26869299
Non-obstructive azoospermia (NOA) MIK: 25463635
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269
 Regulate the viability of differentiating spermatogonia MIK: 18339773

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25463635 Non-obstru
ctive azoo
spermia (N
OA)
SOHLH2 (rs1328626, rs6563386) Chinese
729 (361 non-ob
structive azoos
permia (NOA) ca
ses and 368 fer
tile controls)
Male infertility SOHLH1
SOHLH2
Show abstract
18339773  Regulate
the viabil
ity of dif
ferentiati
ng spermat
ogonia


Male infertility
Show abstract
26869299 Important
for sperma
togonial d
ifferentia
tion, Male
infertili
ty


Male infertility
Show abstract
22056784 Important
for sperma
ogonial di
fferentiat
ion


Male infertility
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Aberrant C
pGs in Low
Motility
Sperm

18
Male infertility GSE26881
Show abstract
31037746 Spermatoge
nic defect
s

28 men with az
oospermia
Male infertility Microarray
Show abstract