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Gene id 1961
Gene Summary     SNPs    Diseases    PubMed    

Gene Summary

Gene Symbol EGR4   Gene   UCSC   Ensembl
Aliases AT133, NGFI-C, NGFIC, PAT133
Gene name early growth response 4
Alternate names early growth response protein 4,
Gene location 2p13.2 (73293547: 73290928)     Exons: 2     NC_000002.12
OMIM 128992

SNPs


rs7558708

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

NC_000002.12   g.73291739G>A
NC_000002.11   g.73518867G>A
NM_001965.4   c.1179C>T
NM_001965.3   c.1488C>T|SEQ=[G/A]|GENE=EGR4

rs2229294

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

NC_000002.12   g.73291405G>A
NC_000002.11   g.73518533G>A
NM_001965.4   c.*52C>T
NM_001965.3   c.*52C>T|SEQ=[G/A]|GENE=EGR4

rs771189047

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000002.12   g.73293568dup
NC_000002.11   g.73520696dup|SEQ=[-/C]|GENE=EGR4

rs561568849

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

NC_000002.12   g.73293413G>A
NC_000002.12   g.73293413G>T
NC_000002.11   g.73520541G>A
NC_000002.11   g.73520541G>T
NM_001965.4   c.-96C>T
NM_001965.4   c.-96C>A
NM_001965.3   c.214C>T
NM_001965.3   c.214C>A|SEQ=[G/A/T]|GENE=EGR4

rs763487015

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

NC_000002.12   g.73293391G>A
NC_000002.11   g.73520519G>A
NM_001965.4   c.-74C>T
NM_001965.3   c.236C>T|SEQ=[G/A]|GENE=EGR4

rs546250227

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

NC_000002.12   g.73291933C>A
NC_000002.11   g.73519061C>A
NM_001965.4   c.985G>T
NM_001965.3   c.1294G>T
NP_001956.4   p.Val329Leu|SEQ=[C/A]|GENE=EGR4

rs115948271

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

NC_000002.12   g.73292360G>C
NC_000002.11   g.73519488G>C
NM_001965.4   c.558C>G
NM_001965.3   c.867C>G|SEQ=[G/C]|GENE=EGR4

rs528939702

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

NC_000002.12   g.73291997C>T
NC_000002.11   g.73519125C>T
NM_001965.4   c.921G>A
NM_001965.3   c.1230G>A|SEQ=[C/T]|GENE=EGR4
Associated diseases References
Schizophrenia GAD: 20144677
May regulate spermatogenesis MIK: 20925118
Spermatogenesis defects MIK: 28464846
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Associated with spermatogenesis and epigenetic regulation MIK: 21674046
Cryptorchidism MIK: 19828938
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269

PubMed references

Expand All | Collapse All

PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
20925118 May regula
te spermat
ogenesis


Male infertility
Show abstract
28464846 Spermatoge
nesis impa
irement
rs771189047, rs561568849, rs763487015, rs546250227, rs115948271, rs528939702, rs7558708, rs2229294, [c.65_66InsG (p. Cys23Leufs*37), c.236C?>?T (p. Pro79Leu), c.1294G?>?T (p. Val432Leu)], [c.1230G?>?A (p. Thr410)], c.214C?>?A (p. Arg72Ser), c.236C?>?T (p Korean
442 (170 Korean
men with impai
red spermatogen
esis and 272 no
rmal controls)
Male infertility
Show abstract
19828938 Cryptorchi
dism, Male
infertili
ty

15 with cryptor
chidism
Male infertility Microarray
Show abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract
21674046 Associated
with sper
matogenesi
s and epig
enetic reg
ulation

18
Male infertility GSE26881
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