• Gene id: 40

Gene Summary

• Gene Symbol: ASIC2   Gene   UCSC   Ensembl
• Aliases: ACCN, ACCN1, ASIC2a, BNC1, BNaC1, MDEG, hBNaC1
• Gene name: acid sensing ion channel subunit 2
• Alternate names: acid-sensing ion channel 2, acid sensing (proton gated) ion channel 2, amiloride-sensitive cation channel 1, neuronal, brain sodium channel 1, mammalian degenerin homolog, neuronal amiloride-sensitive cation channel 1,
• Gene location: 17q11.2-q12 (34156805: 33013086)     Exons: 11     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large e
• OMIM: 601784

SNPs

rs886041025

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

NC_000020.11   g.32985782G>C
NC_000020.10   g.31573588G>C
NG_054760.1   g.23668C>G
NM_080675.4   c.851C>G
NM_080675.3   c.851C>G
XM_011528573.1   c.920C>G
XM_011528574.1   c.776C>G
XM_011528575.1   c.581C>G
NP_542406.2   p.Ser284Ter
XP_011526875.1   p.Ser307Ter
XP_01152  

rs886041024

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

NC_000020.11   g.32985852C>T
NC_000020.10   g.31573658C>T
NG_054760.1   g.23598G>A
NM_080675.4   c.781G>A
NM_080675.3   c.781G>A
XM_011528573.1   c.850G>A
XM_011528574.1   c.706G>A
XM_011528575.1   c.511G>A
NP_542406.2   p.Val261Met
XP_011526875.1   p.Val284Met
XP_01152  

rs886041023

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

NC_000020.11   g.32995668A>G
NC_000020.11   g.32995668A>T
NC_000020.10   g.31583474A>G
NC_000020.10   g.31583474A>T
NG_054760.1   g.13782T>C
NG_054760.1   g.13782T>A
NM_080675.4   c.485T>C
NM_080675.4   c.485T>A
NM_080675.3   c.485T>C
NM_080675.3   c.485T>A
XM_011528573  

rs781693813

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

NC_000020.11   g.32997649del
NC_000020.10   g.31585455del
NG_054760.1   g.11803del
NM_080675.4   c.381del
NM_080675.3   c.381del
XM_011528573.1   c.450del
XM_011528574.1   c.306del
XM_011528575.1   c.111del
XM_011528576.1   c.450del
NP_542406.2   p.Val128fs
XP_011526875  

rs775700619

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

NC_000011.10   g.73951138G>A
NC_000011.10   g.73951138G>C
NC_000011.9   g.73662183G>A
NC_000011.9   g.73662183G>C
NG_053111.1   g.5820G>A
NG_053111.1   g.5820G>C|SEQ=[G/A/C]|GENE=DNAJB13

rs756459525

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

NC_000020.11   g.32985809G>A
NC_000020.10   g.31573615G>A
NG_054760.1   g.23641C>T
NM_080675.4   c.824C>T
NM_080675.3   c.824C>T
XM_011528573.1   c.893C>T
XM_011528574.1   c.749C>T
XM_011528575.1   c.554C>T
NP_542406.2   p.Thr275Met
XP_011526875.1   p.Thr298Met
XP_01152  

rs754776389

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

NC_000011.10   g.73969996T>C
NC_000011.10   g.73969996T>G
NC_000011.9   g.73681041T>C
NC_000011.9   g.73681041T>G
NG_053111.1   g.24678T>C
NG_053111.1   g.24678T>G
NM_153614.3   c.833T>C
NM_153614.3   c.833T>G
NM_153614.2   c.833T>C
NM_153614.2   c.833T>G
XM_011545004.3  

rs754130052

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

NC_000020.11   g.32983868G>A
NC_000020.10   g.31571674G>A
NG_054760.1   g.25582C>T
NM_080675.4   c.1066C>T
NM_080675.3   c.1066C>T
XM_011528573.1   c.1135C>T
XM_011528574.1   c.991C>T
XM_011528575.1   c.796C>T
NP_542406.2   p.Arg356Cys
XP_011526875.1   p.Arg379Cys
XP_01  

rs587777031

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

NC_000010.11   g.119030032_119030034CTC[1]
NC_000010.11   g.119030032_119030034CTC[3]
NC_000010.11   g.119030032_119030034CTC[5]
NC_000010.10   g.120789544_120789546CTC[1]
NC_000010.10   g.120789544_120789546CTC[3]
NC_000010.10   g.120789544_120789546CTC[5]
NG_0  

rs371195126

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

NC_000016.10   g.4783690C>G
NC_000016.10   g.4783690C>T
NC_000016.9   g.4833691C>G
NC_000016.9   g.4833691C>T
NG_030315.1   g.9832G>C
NG_030315.1   g.9832G>A
NM_144605.5   c.589G>C
NM_144605.5   c.589G>A
NM_144605.4   c.589G>C
NM_144605.4   c.589G>A
NM_001154458.3   c.451

rs199696526

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

NC_000016.10   g.4786006G>A
NC_000016.9   g.4836007G>A
NG_030315.1   g.7516C>T
NM_144605.5   c.266C>T
NM_144605.4   c.266C>T
NM_001154458.3   c.266C>T
NM_001154458.2   c.266C>T
XM_011522379.3   c.74C>T
XM_006720846.2   c.266C>T
XM_024450155.1   c.266C>T
XM_017022938.1   c

rs12870438

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

NC_000013.11   g.42906069G>A
NC_000013.10   g.43480205G>A
NG_051573.1   g.91244C>T|SEQ=[G/A]|GENE=EPSTI1

rs12520985

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

NC_000005.10   g.133911770T>G
NC_000005.9   g.133247461T>G|SEQ=[T/G]|GENE=WSPAR

rs12323635

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

NC_000014.9   g.95159374C>T
NC_000014.8   g.95625711C>T
NG_016311.1   g.3049G>A|SEQ=[C/T]|GENE=DICER1
DICER1-AS1   400242

rs11703684

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

NC_000022.11   g.24748945C>G
NC_000022.11   g.24748945C>T
NC_000022.10   g.25144912C>G
NC_000022.10   g.25144912C>T
NM_001008496.3   c.1411G>C
NM_001008496.3   c.1411G>A
NR_045648.1   n.2042G>C
NR_045648.1   n.2042G>A
NR_045649.1   n.1915A>G
NR_045649.1   n.1915A>C
NM_0  

rs3741843

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

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs3197744

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

NC_000020.11   g.1937841G>T
NC_000020.10   g.1918487G>T
XM_006723545.4   c.*273G>T
XM_005260670.3   c.*273G>T
XM_005260670.1   c.*273G>T
XM_011529173.2   c.*273G>T
NM_080792.2   c.*273G>T
NM_080792.3   c.*273G>T
NM_001330728.1   c.*273G>T
NM_001040022.1   c.*273G>T
NM_0  

rs1025689

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

NC_000003.12   g.53849695C>A
NC_000003.12   g.53849695C>G
NC_000003.12   g.53849695C>T
NC_000003.11   g.53883722C>A
NC_000003.11   g.53883722C>G
NC_000003.11   g.53883722C>T
NG_028042.1   g.1699G>T
NG_028042.1   g.1699G>C
NG_028042.1   g.1699G>A
XM_005265310.5   c.126C>

rs759992

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

NC_000016.10   g.4788494A>C
NC_000016.10   g.4788494A>G
NC_000016.9   g.4838495A>C
NC_000016.9   g.4838495A>G
NG_030315.1   g.5028T>G
NG_030315.1   g.5028T>C
NM_144605.4   c.-237T>G
NM_144605.4   c.-237T>C
NM_001154458.2   c.-237T>G
NM_001154458.2   c.-237T>C
XM_0115225  

rs13078

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

NC_000014.9   g.95090410A>C
NC_000014.9   g.95090410A>T
NC_000014.8   g.95556747A>C
NC_000014.8   g.95556747A>T
NG_016311.1   g.72013T>G
NG_016311.1   g.72013T>A
NM_030621.4   c.*88T>G
NM_030621.4   c.*88T>A
NM_030621.3   c.*88T>G
NM_030621.3   c.*88T>A
NM_177438.3   c.*8

rs7946

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

NC_000017.11   g.17506246C>T
NC_000017.10   g.17409560C>T
XM_006721418.4   c.571G>A
NM_148172.3   c.634G>A
NM_148172.2   c.634G>A
NM_007169.2   c.523G>A
NM_007169.3   c.523G>A
NM_001267552.1   c.665G>A
NM_001267552.2   c.665G>A
NM_001267551.1   c.568G>A
NM_001267551.2   c

rs12920268

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

NC_000016.10   g.79433215G>A
NC_000016.9   g.79467112G>A|SEQ=[G/A]|GENE=MAF

rs79170274

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

NC_000010.11   g.119030036T>A
NC_000010.11   g.119030036T>C
NC_000010.10   g.120789548T>A
NC_000010.10   g.120789548T>C
NG_050764.1   g.5321T>A
NG_050764.1   g.5321T>C
NM_199461.4   c.235T>A
NM_199461.4   c.235T>C
NM_199461.3   c.235T>A
NM_199461.3   c.235T>C
NM_199461.  

rs4758680

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

NC_000012.12   g.122170805T>A
NC_000012.12   g.122170805T>G
NC_000012.11   g.122655352T>A
NC_000012.11   g.122655352T>G|SEQ=[T/A/G]|GENE=LRRC43

rs3827527

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

NC_000016.10   g.4788322G>A
NC_000016.9   g.4838323G>A
NG_030315.1   g.5200C>T
NM_144605.5   c.-65C>T
NM_144605.4   c.-65C>T
NM_001154458.3   c.-65C>T
NM_001154458.2   c.-65C>T
XM_011522379.3   c.-268C>T|SEQ=[G/A]|GENE=SEPTIN12
SMIM22   440335

rs1057035

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

NC_000014.9   g.95087805T>C
NC_000014.8   g.95554142T>C
NG_016311.1   g.74618A>G
NM_030621.4   c.*2693A>G
NM_030621.3   c.*2693A>G
NM_177438.3   c.*2693A>G
NM_177438.2   c.*2693A>G
NM_001271282.3   c.*2693A>G
NM_001271282.2   c.*2693A>G
NM_001291628.1   c.*2693A>G
NM_00  

rs11614913

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

NC_000012.12   g.53991815C>T
NC_000012.11   g.54385599C>T
NR_029617.1   n.78C>T|SEQ=[C/T]|GENE=MIR196A2

rs4938723

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

NC_000011.10   g.111511840T>C
NC_000011.9   g.111382565T>C|SEQ=[T/C]|GENE=BTG4
MIR34B   407041
MIR34C   407042
LOC728196   728196

rs121912556

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

NC_000019.10   g.17816945C>T
NC_000019.9   g.17927754C>T
NG_012092.1   g.9567G>A
NM_005543.4   c.305G>A
NM_005543.3   c.305G>A
NM_001265587.2   c.400G>A
NM_001265587.1   c.400G>A
NP_005534.2   p.Arg102His
NP_001252516.1   p.Ala134Thr|SEQ=[C/T]|GENE=INSL3

rs10421916

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

NC_000019.10   g.17818178A>G
NC_000019.10   g.17818178A>T
NC_000019.9   g.17928987A>G
NC_000019.9   g.17928987A>T
NG_012092.1   g.8334T>C
NG_012092.1   g.8334T>A|SEQ=[A/G/T]|GENE=INSL3

rs3212293

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

NC_000024.10   g.13479612C>G
NC_000024.10   g.13479612C>T
NC_000024.9   g.15591492C>G
NC_000024.9   g.15591492C>T
NM_007125.4   c.54G>C
NM_007125.4   c.54G>A
XM_006724875.4   c.54G>C
XM_006724875.4   c.54G>A
XM_005262518.4   c.54G>C
XM_005262518.4   c.54G>A
XM_005262518  

rs1799964

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

NC_000006.12   g.31574531T>C
NC_000006.11   g.31542308T>C
NG_007462.1   g.3959T>C
NG_012010.1   g.7433T>C
NT_113891.3   g.3051818T>C
NT_113891.2   g.3051924T>C
NT_167246.2   g.2879572T>C
NT_167246.1   g.2885192T>C
NT_167249.2   g.2873811T>C
NT_167249.1   g.2873109T>C
NT  

rs1799724

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

NC_000006.12   g.31574705C>T
NC_000006.11   g.31542482C>T
NG_007462.1   g.4133C>T
NG_012010.1   g.7607C>T
NT_113891.3   g.3051992C>T
NT_113891.2   g.3052098C>T
NT_167246.2   g.2879746C>T
NT_167246.1   g.2885366C>T
NT_167249.2   g.2873985C>T
NT_167249.1   g.2873283C>T
NT  

rs3021522

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

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

rs1982073

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

NC_000019.10   g.41353016G>A
NC_000019.10   g.41353016G>C
NC_000019.9   g.41858921G>A
NC_000019.9   g.41858921G>C
NG_013364.1   g.5911C>T
NG_013364.1   g.5911C>G
NM_000660.7   c.29C>T
NM_000660.7   c.29C>G
NM_000660.6   c.29C>T
NM_000660.6   c.29C>G
NM_000660.4   c.29C>T
  

rs1800471

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

NC_000019.10   g.41352971C>G
NC_000019.10   g.41352971C>T
NC_000019.9   g.41858876C>G
NC_000019.9   g.41858876C>T
NG_013364.1   g.5956G>C
NG_013364.1   g.5956G>A
NM_000660.7   c.74G>C
NM_000660.7   c.74G>A
NM_000660.6   c.74G>C
NM_000660.6   c.74G>A
NM_000660.4   c.74G>C
  

rs3742330

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

NC_000014.9   g.95087025A>G
NC_000014.8   g.95553362A>G
NG_016311.1   g.75398T>C
NM_030621.4   c.*3473T>C
NM_030621.3   c.*3473T>C
NM_177438.3   c.*3473T>C
NM_177438.2   c.*3473T>C
NM_001271282.3   c.*3473T>C
NM_001271282.2   c.*3473T>C
NM_001291628.1   c.*3473T>C
NM_00  

rs140132974

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

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

rs1164594027

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

NC_000016.10   g.4787507C>T
NC_000016.9   g.4837508C>T
NG_030315.1   g.6015G>A
NM_144605.5   c.139G>A
NM_144605.4   c.139G>A
NM_001154458.3   c.139G>A
NM_001154458.2   c.139G>A
XM_011522379.3   c.-65G>A
XM_006720846.2   c.139G>A
XM_024450155.1   c.139G>A
NP_653206.2   p.G

rs1384271239

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

NC_000016.10   g.4787501C>G
NC_000016.9   g.4837502C>G
NG_030315.1   g.6021G>C
NM_144605.5   c.145G>C
NM_144605.4   c.145G>C
NM_001154458.3   c.145G>C
NM_001154458.2   c.145G>C
XM_011522379.3   c.-59G>C
XM_006720846.2   c.145G>C
XM_024450155.1   c.145G>C
NP_653206.2   p.G

rs1452958171

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

NC_000016.10   g.4786019G>A
NC_000016.9   g.4836020G>A
NG_030315.1   g.7503C>T
NM_144605.5   c.253C>T
NM_144605.4   c.253C>T
NM_001154458.3   c.253C>T
NM_001154458.2   c.253C>T
XM_011522379.3   c.61C>T
XM_006720846.2   c.253C>T
XM_024450155.1   c.253C>T
XM_017022938.1   c

rs6500633

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

NC_000016.10   g.4783550T>C
NC_000016.9   g.4833551T>C
NG_030315.1   g.9972A>G
NM_144605.5   c.638A>G
NM_144605.4   c.638A>G
NM_001154458.3   c.500A>G
NM_001154458.2   c.500A>G
XM_011522379.3   c.446A>G
XM_006720846.2   c.638A>G
XM_024450155.1   c.638A>G
XM_017022938.1  

Protein Summary

• Protein general information: Q16515  
  • Name: Acid sensing ion channel 2 (ASIC2) (Amiloride sensitive brain sodium channel) (Amiloride sensitive cation channel 1, neuronal) (Amiloride sensitive cation channel neuronal 1) (Brain sodium channel 1) (BNC1) (BNaC1) (Mammalian degenerin homolog) (MDEG)
  • Length: 512  
  • Mass: 57709
  • Tissue specificity: Brain and spinal cord. Isoform 1 is also detected in testis, liver, colon and ovary. {ECO
• Sequence:

  MDLKESPSEGSLQPSSIQIFANTSTLHGIRHIFVYGPLTIRRVLWAVAFVGSLGLLLVESSERVSYYFSYQHVTK
  VDEVVAQSLVFPAVTLCNLNGFRFSRLTTNDLYHAGELLALLDVNLQIPDPHLADPSVLEALRQKANFKHYKPKQ
  FSMLEFLHRVGHDLKDMMLYCKFKGQECGHQDFTTVFTKYGKCYMFNSGEDGKPLLTTVKGGTGNGLEIMLDIQQ
  DEYLPIWGETEETTFEAGVKVQIHSQSEPPFIQELGFGVAPGFQTFVATQEQRLTYLPPPWGECRSSEMGLDFFP
  VYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNKELSM
  VKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILEL
  FDYIYELIKEKLLDLLGKEEDEGSHDENVSTCDTMPNHSETISHTVNVPLQTTLGTLEEIAC

• Structural information:
  • Interpro: IPR001873  IPR004724  IPR020903  
  • Prosite: PS01206
• Other Databases: GeneCards:  ASIC2  Malacards:  ASIC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005272	sodium channel activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0015280	ligand-gated sodium channel activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007422	peripheral nervous system development	TAS	biological process
GO:0007268	chemical synaptic transmission	TAS	biological process
GO:0007417	central nervous system development	TAS	biological process
GO:0015672	monovalent inorganic cation transport	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0022839	ion gated channel activity	IEA	molecular function
GO:0015280	ligand-gated sodium channel activity	IEA	molecular function
GO:0010447	response to acidic pH	IEA	biological process
GO:0009612	response to mechanical stimulus	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0006812	cation transport	IEA	biological process
GO:0005261	cation channel activity	IEA	molecular function
GO:0051965	positive regulation of synapse assembly	IEA	biological process
GO:0050974	detection of mechanical stimulus involved in sensory perception	IEA	biological process
GO:0045202	synapse	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0042391	regulation of membrane potential	IEA	biological process
GO:0035418	protein localization to synapse	IEA	biological process
GO:0034765	regulation of ion transmembrane transport	IEA	biological process
GO:0034220	ion transmembrane transport	IEA	biological process
GO:0019229	regulation of vasoconstriction	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007605	sensory perception of sound	IEA	biological process
GO:0007602	phototransduction	IEA	biological process
GO:0005887	integral component of plasma membrane	IEA	cellular component
GO:0005216	ion channel activity	IEA	molecular function
GO:0003026	regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0050915	sensory perception of sour taste	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04750	Inflammatory mediator regulation of TRP channels
hsa04742	Taste transduction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq