Male Infertility Database

Search Result

Gene id

364

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

AQP7 Gene UCSC Ensembl

Aliases

AQP7L, AQPap, GLYCQTL

Gene name

aquaporin 7

Alternate names

aquaporin-7, aquaglyceroporin-7, aquaporin adipose,

Gene location

9p13.3 (33402681: 33383134) Exons: 10 NC_000009.12

Gene summary(Entrez)

This gene encodes a member of the aquaporin family of water-selective membrane channels. The encoded protein localizes to the plasma membrane and allows movement of water, glycerol and urea across cell membranes. This gene is highly expressed in the adipo

OMIM

602974

SNPs

rs587777044

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

NC_000003.12   g.50343331dup
NC_000003.11   g.50380762dup
NG_023270.1   g.2606dup
NG_042828.1   g.7416dup
NM_015896.4   c.486dup
NM_015896.3   c.486dup
NM_015896.2   c.486dup
NM_001308379.2   c.486dup
NM_001308379.1   c.486dup
XM_005265216.3   c.249dup
XM_005265216.1   c.

rs587777043

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

NC_000003.12   g.50343753del
NC_000003.11   g.50381184del
NG_023270.1   g.2185del
NG_042828.1   g.6995del
NM_015896.4   c.300del
NM_015896.3   c.300del
NM_015896.2   c.300del
NM_001308379.2   c.300del
NM_001308379.1   c.300del
XM_005265216.3   c.63del
XM_005265216.1   c.6

rs397515460

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

NC_000003.12   g.50342047G>A
NC_000003.11   g.50379478G>A
NG_023270.1   g.3890C>T
NG_042828.1   g.8700C>T
NM_015896.4   c.967C>T
NM_015896.3   c.967C>T
NM_015896.2   c.967C>T
NM_001308379.2   c.952C>T
NM_001308379.1   c.952C>T
XM_005265216.3   c.730C>T
XM_005265216.1   c.

rs200913791

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

NC_000003.12   g.50342473A>G
NC_000003.11   g.50379904A>G
NG_023270.1   g.3464T>C
NG_042828.1   g.8274T>C
NM_015896.4   c.797T>C
NM_015896.3   c.797T>C
NM_015896.2   c.797T>C
NM_001308379.2   c.782T>C
NM_001308379.1   c.782T>C
XM_005265216.3   c.560T>C
XM_005265216.1   c.

rs138815960

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

NC_000003.12   g.50345533A>C
NC_000003.11   g.50382964A>C
NG_023270.1   g.404T>G
NG_042828.1   g.5214T>G
NM_015896.4   c.47T>G
NM_015896.3   c.47T>G
NM_015896.2   c.47T>G
NM_001308379.2   c.47T>G
NM_001308379.1   c.47T>G
XM_005265216.3   c.-82T>G
XM_005265216.1   c.-82T>G

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

rs2059807

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

NC_000019.10   g.7166098A>G
NC_000019.10   g.7166098A>T
NC_000019.9   g.7166109A>G
NC_000019.9   g.7166109A>T
NG_008852.2   g.132903T>C
NG_008852.2   g.132903T>A|SEQ=[A/G/T]|GENE=INSR

rs1399645

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

NC_000002.12   g.139390262C>G
NC_000002.12   g.139390262C>T
NC_000002.11   g.140147832C>G
NC_000002.11   g.140147832C>T|SEQ=[C/G/T]|GENE=LOC105373644

rs2063802

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

NC_000002.12   g.139384878G>A
NC_000002.12   g.139384878G>C
NC_000002.11   g.140142448G>A
NC_000002.11   g.140142448G>C|SEQ=[G/A/C]|GENE=LOC105373644

Protein Summary

Protein general information

O14520

Name: Aquaporin 7 (AQP 7) (Aquaglyceroporin 7) (Aquaporin adipose) (AQPap) (Aquaporin 7 like)

Length: 342 Mass: 37,232

Sequence

MVQASGHRRSTRGSKMVSWSVIAKIQEILQRKMVREFLAEFMSTYVMMVFGLGSVAHMVLNKKYGSYLGVNLGFG
FGVTMGVHVAGRISGAHMNAAVTFANCALGRVPWRKFPVYVLGQFLGSFLAAATIYSLFYTAILHFSGGQLMVTG
PVATAGIFATYLPDHMTLWRGFLNEAWLTGMLQLCLFAITDQENNPALPGTEALVIGILVVIIGVSLGMNTGYAI
NPSRDLPPRIFTFIAGWGKQVFSNGENWWWVPVVAPLLGAYLGGIIYLVFIGSTIPREPLKLEDSVAYEDHGITV
LPKMGSHEPTISPLTPVSVSPANRSSVHPAPPLHESMALEHF

Structural information

Interpro:	IPR023271 IPR015686 IPR000425
CDD:	cd00333
STRING:	ENSP00000297988

Other Databases

GeneCards: AQP7 Malacards: AQP7

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of pla sma membrane	TAS	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0006091	generation of precursor m etabolites and energy	TAS	biological process
GO:0006833	water transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0009992	cellular water homeostasi s	IBA	biological process
GO:0015204	urea transmembrane transp orter activity	IBA	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015793	glycerol transport	TAS	biological process
GO:0034220	ion transmembrane transpo rt	IBA	biological process
GO:0071918	urea transmembrane transp ort	IBA	biological process
GO:0005215	transporter activity	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of pla sma membrane	TAS	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0006091	generation of precursor m etabolites and energy	TAS	biological process
GO:0006810	transport	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006833	water transport	TAS	biological process
GO:0006833	water transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0009992	cellular water homeostasi s	IBA	biological process
GO:0015204	urea transmembrane transp orter activity	IBA	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	TAS	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	TAS	molecular function
GO:0015793	glycerol transport	TAS	biological process
GO:0015793	glycerol transport	TAS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of mem brane	IEA	cellular component
GO:0034220	ion transmembrane transpo rt	IBA	biological process
GO:0071918	urea transmembrane transp ort	IBA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of pla sma membrane	TAS	cellular component
GO:0005911	cell-cell junction	IDA	cellular component
GO:0006091	generation of precursor m etabolites and energy	TAS	biological process
GO:0006833	water transport	TAS	biological process
GO:0006833	water transport	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0009992	cellular water homeostasi s	IBA	biological process
GO:0015204	urea transmembrane transp orter activity	IBA	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	TAS	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015250	water channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	EXP	molecular function
GO:0015254	glycerol channel activity	TAS	molecular function
GO:0015793	glycerol transport	TAS	biological process
GO:0015793	glycerol transport	TAS	biological process
GO:0034220	ion transmembrane transpo rt	IBA	biological process
GO:0071918	urea transmembrane transp ort	IBA	biological process

KEGG pathways

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Pathway id	Pathway name
hsa04923	Regulation of lipolysis in adipocytes
hsa03320	PPAR signaling pathway

Diseases

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Associated diseases	References
Glycerol quantitative trait locus	OMIM: 602974
Diabetes	GAD: 17351148
Diabetes	GAD: 17351148
Fertilizing defects	INFBASE: 26908840
Oocyte number	INFBASE: 26908840
Polycystic ovary syndrome (PCOS)	INFBASE: 23235401
Progressive motility	MIK: 19840149
Progressive motility	MIK: 19840149
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 11380332
Maintanence of sperm motility	MIK: 15540792
Progressive motility	MIK: 19840149
Spermatogenic defects	MIK: 31037746

PubMed references

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PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
19840149	Progressiv e motility	50 (39 infertil e patients, 11 healthy donors)	Male infertility	AQP7	Show abstract
15540792	Maintanenc e of sperm motility		Male infertility		Show abstract
11380332	Involved i n spermato genesis, M ale infert ility		Male infertility		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

Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

Expand All | Collapse All

Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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