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Gene id 493
Gene Summary     SNPs    Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol ATP2B4   Gene   UCSC   Ensembl
Aliases ATP2B2, MXRA1, PMCA4, PMCA4b, PMCA4x
Gene name ATPase plasma membrane Ca2+ transporting 4
Alternate names plasma membrane calcium-transporting ATPase 4, ATPase, Ca++ transporting, plasma membrane 4, matrix-remodeling-associated protein 1, sarcolemmal calcium pump,
Gene location 1q32.1 (203626786: 203744080)     Exons: 23     NC_000087.7
Gene summary(Entrez) The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells
OMIM 108732

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

Gene ontology

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GO accessionTerm nameEvidence codeGo category

KEGG pathways

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Pathway idPathway name
hsa04020Calcium signaling pathway
hsa04024cAMP signaling pathway
hsa04022cGMP-PKG signaling pathway
hsa04925Aldosterone synthesis and secretion
hsa04261Adrenergic signaling in cardiomyocytes
hsa04970Salivary secretion
hsa04972Pancreatic secretion
hsa04261Adrenergic signaling in cardiomyocytes
hsa04022cGMP-PKG signaling pathway
hsa04024cAMP signaling pathway
hsa04020Calcium signaling pathway
hsa04970Salivary secretion
hsa04925Aldosterone synthesis and secretion
hsa04972Pancreatic secretion
hsa04961Endocrine and other factor-regulated calcium reabsorption
hsa04978Mineral absorption
Associated diseases References
Hypertension GAD: 19536175
Asthenozoospermia MIK: 28787189
Required for sperm motility MIK: 15078889
Aberrant CpGs in Low Motility Sperm MIK: 21674046
Asthenozoospermia MIK: 28787189
Male infertility MIK: 28787189
Cryptorchidism MIK: 28606200
Required for sperm motility and male fertility MIK: 15078889
Spermatogenic defects MIK: 31037746
Teratozoospermia MIK: 17327269
Unexplained infertility MIK: 25753583

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15078889 Required f
or sperm m
otility an
d male fer
tility


Male infertility
Show abstract
28787189 Asthenozoo
spermia, M
ale infert
ility


Male infertility
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
31037746 Spermatoge
nic defect
s

16 (1 control,
15 cases)
Male infertility GSE6023 analyzed using GEO2R
Show abstract
25753583 Unexplaine
d infertil
ity

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