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Gene id 2802
Gene Summary     SNPs    Protein Summary    Gene ontology    Diseases    PubMed    

Gene Summary

Gene Symbol GOLGA3   Gene   UCSC   Ensembl
Aliases GCP170, MEA-2
Gene name golgin A3
Alternate names golgin subfamily A member 3, Golgi membrane associated protein, Golgi peripheral membrane protein, SY2/SY10 protein, golgi autoantigen, golgin subfamily a, 3, golgi complex-associated protein of 170 kDa, golgin-160, golgin-165, male enhanced antigen-2,
Gene location 12q24.33 (132829130: 132768912)     Exons: 30     NC_000079.6
Gene summary(Entrez) The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be
OMIM 602581

SNPs


rs2231599

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

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs79822589

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

NC_000001.11   g.86565961T>C
NC_000001.10   g.87031644T>C
NM_012128.4   c.895T>C
NM_012128.3   c.895T>C
XM_011541015.2   c.742T>C
NR_024602.1   n.830T>C
NR_024602.2   n.828T>C|SEQ=[T/C]|GENE=CLCA4

rs763334876

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

NC_000001.11   g.86567425G>A
NC_000001.10   g.87033108G>A
NM_012128.4   c.956G>A
NM_012128.3   c.956G>A
XM_011541015.2   c.803G>A
NR_024602.1   n.891G>A
NR_024602.2   n.889G>A
NP_036260.2   p.Gly319Asp
XP_011539317.1   p.Gly268Asp|SEQ=[G/A]|GENE=CLCA4

rs759981524

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

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

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

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs190628533

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

NC_000001.11   g.86560300C>T
NC_000001.10   g.87025983C>T
NM_012128.4   c.390C>T
NM_012128.3   c.390C>T
XM_011541015.2   c.237C>T
NR_024602.1   n.434C>T
NR_024602.2   n.432C>T|SEQ=[C/T]|GENE=CLCA4

Protein Summary

Gene ontology

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GO accessionTerm nameEvidence codeGo category
Associated diseases References
May be important for survival of pachytene spermatocytes MIK: 11835574
Multiple spermatogenic defects MIK: 23495255
Defective spermatogenesis MIK: 9892724
Cryptorchidism MIK: 28606200
May be important for survival of pachytene spermatocytes MIK: 11835574
Spermatogenic defects MIK: 23495255

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
11835574 May be imp
ortant for
survival
of pachyte
ne spermat
ocytes


Male infertility
Show abstract
9892724 Defective
spermatoge
nesis


Male infertility
Show abstract
23495255 Multiple s
permatogen
ic defects


Male infertility
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract
28606200 Cryptorchi
dism

Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
Male infertility MeDIP-Seq
Show abstract