• Gene id: 116369

Gene Summary

• Gene Symbol: SLC26A8   Gene   UCSC   Ensembl
• Aliases: SPGF3, TAT1
• Gene name: solute carrier family 26 member 8
• Alternate names: testis anion transporter 1, anion transporter/exchanger-8, solute carrier family 26 (anion exchanger), member 8,
• Gene location: 6p21.31 (36024635: 35943513)     Exons: 22     NC_000006.12
• Gene summary(Entrez): This gene encodes a member of the SLC26 gene family of anion transporters. Family members are well conserved in gene structure and protein length yet have markedly different tissue expression patterns. The expression of this gene appears to be restricted
• OMIM: 608480

SNPs

rs398123027

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

NC_000006.12   g.35943953G>A
NC_000006.11   g.35911730G>A
NG_033897.1   g.85684C>T
NM_052961.4   c.2860C>T
NM_052961.3   c.2860C>T
NM_001193476.2   c.2860C>T
NM_001193476.1   c.2860C>T
NM_138718.2   c.2545C>T
XM_011514294.3   c.2782C>T
XM_017010235.1   c.2860C>T
NP_4431  

rs397515622

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

NC_000015.10   g.55491203C>A
NC_000015.9   g.55783401C>A
NG_021213.1   g.22032G>T
NM_130810.4   c.325G>T
NM_130810.3   c.325G>T
NM_001033559.2   c.325G>T
NM_001033560.1   c.325G>T
NR_037923.1   n.580G>T
NP_570722.2   p.Glu109Ter
NP_001028731.1   p.Glu109Ter
NP_001028732  

rs142724470

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

NC_000006.12   g.35951201C>T
NC_000006.11   g.35918978C>T
NG_033897.1   g.78436G>A
NM_052961.4   c.2434G>A
NM_052961.3   c.2434G>A
NM_001193476.2   c.2434G>A
NM_001193476.1   c.2434G>A
NM_138718.2   c.2119G>A
XM_011514294.3   c.2356G>A
XM_017010235.1   c.2434G>A
NP_4431  

rs140210148

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

NC_000006.12   g.36012301C>T
NC_000006.11   g.35980078C>T
NG_033897.1   g.17336G>A
NM_052961.4   c.260G>A
NM_052961.3   c.260G>A
NM_001193476.2   c.260G>A
NM_001193476.1   c.260G>A
NM_138718.2   c.260G>A
XM_011514294.3   c.260G>A
XR_926055.3   n.370G>A
XM_017010235.1   c.

Protein Summary

• Protein general information: Q96RN1  
  • Name: Testis anion transporter 1 (Anion exchange transporter) (Solute carrier family 26 member 8)
  • Length: 970  
  • Mass: 109,006
• Sequence:

  MAQLERSAISGFSSKSRRNSFAYDVKREVYNEETFQQEHKRKASSSGNMNINITTFRHHVQCRCSWHRFLRCVLT
  IFPFLEWMCMYRLKDWLLGDLLAGISVGLVQVPQGLTLSLLARQLIPPLNIAYAAFCSSVIYVIFGSCHQMSIGS
  FFLVSALLINVLKVSPFNNGQLVMGSFVKNEFSAPSYLMGYNKSLSVVATTTFLTGIIQLIMGVLGLGFIATYLP
  ESAMSAYLAAVALHIMLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKANSTSILVFLTVVVALRINKCIRIS
  FNQYPIEFPMELFLIIGFTVIANKISMATETSQTLIDMIPYSFLLPVTPDFSLLPKIILQAFSLSLVSSFLLIFL
  GKKIASLHNYSVNSNQDLIAIGLCNVVSSFFRSCVFTGAIARTIIQDKSGGRQQFASLVGAGVMLLLMVKMGHFF
  YTLPNAVLAGIILSNVIPYLETISNLPSLWRQDQYDCALWMMTFSSSIFLGLDIGLIISVVSAFFITTVRSHRAK
  ILLLGQIPNTNIYRSINDYREIITIPGVKIFQCCSSITFVNVYYLKHKLLKEVDMVKVPLKEEEIFSLFNSSDTN
  LQGGKICRCFCNCDDLEPLPRILYTERFENKLDPEASSINLIHCSHFESMNTSQTASEDQVPYTVSSVSQKNQGQ
  QYEEVEEVWLPNNSSRNSSPGLPDVAESQGRRSLIPYSDASLLPSVHTIILDFSMVHYVDSRGLVVLRQICNAFQ
  NANILILIAGCHSSIVRAFERNDFFDAGITKTQLFLSVHDAVLFALSRKVIGSSELSIDESETVIRETYSETDKN
  DNSRYKMSSSFLGSQKNVSPGFIKIQQPVEEESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEM
  EPQPETEPEMEPNPKSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSYSPEGNSNEDV

• Structural information:
  • Protein Domains: STAS. (543-795)
  • Interpro: IPR011547  IPR001902  IPR030303  IPR002645  IPR036513  
  • Prosite: PS50801
  • STRING: ENSP00000347778
• Other Databases: GeneCards:  SLC26A8  Malacards:  SLC26A8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006820	anion transport	IDA	biological process
GO:0006821	chloride transport	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0008271	secondary active sulfate transmembrane transporter activity	IEA	molecular function
GO:0008272	sulfate transport	IDA	biological process
GO:0015106	bicarbonate transmembrane transporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IDA	molecular function
GO:0015301	anion:anion antiporter activity	IBA	molecular function
GO:0015701	bicarbonate transport	IBA	biological process
GO:0019531	oxalate transmembrane transporter activity	IDA	molecular function
GO:0019532	oxalate transport	IDA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0048240	sperm capacitation	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006810	transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006820	anion transport	IEA	biological process
GO:0006820	anion transport	IDA	biological process
GO:0006821	chloride transport	IDA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0008271	secondary active sulfate transmembrane transporter activity	IEA	molecular function
GO:0008272	sulfate transport	IEA	biological process
GO:0008272	sulfate transport	IDA	biological process
GO:0008509	anion transmembrane transporter activity	IEA	molecular function
GO:0015106	bicarbonate transmembrane transporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IEA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IDA	molecular function
GO:0015301	anion:anion antiporter activity	IBA	molecular function
GO:0015301	anion:anion antiporter activity	IEA	molecular function
GO:0015701	bicarbonate transport	IBA	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 membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0019531	oxalate transmembrane transporter activity	IDA	molecular function
GO:0019532	oxalate transport	IDA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030317	flagellated sperm motility	IEA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0048240	sperm capacitation	IEA	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process
GO:0055085	transmembrane transport	IEA	biological process
GO:0098656	anion transmembrane transport	IEA	biological process
GO:1902358	sulfate transmembrane transport	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IDA	cellular component
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0006820	anion transport	IDA	biological process
GO:0006821	chloride transport	IDA	biological process
GO:0008272	sulfate transport	IDA	biological process
GO:0015106	bicarbonate transmembrane transporter activity	IBA	molecular function
GO:0015116	sulfate transmembrane transporter activity	IDA	molecular function
GO:0015301	anion:anion antiporter activity	IBA	molecular function
GO:0015701	bicarbonate transport	IBA	biological process
GO:0019531	oxalate transmembrane transporter activity	IDA	molecular function
GO:0019532	oxalate transport	IDA	biological process
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0051453	regulation of intracellular pH	IBA	biological process

Diseases

Associated diseases	References
Brain ischemia	GAD: 19023099
Cardiovascular disease	GAD: 17975119
Kidney diseases	GAD: 19578796
Ovarian endometriosis	INFBASE: 26193952
Asthenozoospermia	MIK: 23582645
Primary spermatogenic failure	MIK: 15579655
Male factor infertility	MIK: 15579655
Spermatogenesis defects	OMIM: 608480
Asthenozoospermia	MIK: 23582645
Asthenozoospermia	MIK: 24411905
Cryptorchidism	MIK: 28606200
Primary spermatogenic failure	MIK: 15579655
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
Sperm tail differentiation and motility	MIK: 17517695
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23582645	Asthenozoospermia	c.260G>A (p.Arg87Gln), c.2434G>A (p.Glu812Lys), and c.2860C>T (p.Arg954Cys)		267 (146 men presenting with asthenozoospermia, 121 controls)	Male infertility
24411905	Asthenozoospermia				Male infertility	SLC26A8
15579655	Male infertility, Primary spermatogenic failure			83 male infertility patients	Male infertility	SLC26A8
17517695	Sperm tail differentiation and motility				Male infertility
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R