SLC26A8 (solute carrier family 26 member 8)

Gene

• Entrez ID: 116369
• Gene name: Solute carrier family 26 member 8
• Gene symbol: SLC26A8
• Synonyms (NCBI Gene): AZON, SPGF3, TAT1
• Chromosome: 6
• Chromosome location: 6p21.31
• Summary: 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142724470	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs398123027	G>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1357962	hsa-miR-3185	CLIP-seq
MIRT2330369	hsa-miR-1252	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IDA	11834742
GO:0005515	Function	Protein binding	IPI	11278976, 22121115
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	11278976
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IDA	11278976, 11834742
GO:0007283	Process	Spermatogenesis	IEA
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015116	Function	Sulfate transmembrane transporter activity	IDA	11834742
GO:0015297	Function	Antiporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019531	Function	Oxalate transmembrane transporter activity	IBA
GO:0019531	Function	Oxalate transmembrane transporter activity	IDA	11834742
GO:0019532	Process	Oxalate transport	IDA	11834742
GO:0030154	Process	Cell differentiation	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0097227	Component	Sperm annulus	IDA	17517695, 22121115
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IBA
GO:0160044	Function	Sulfate:chloride antiporter activity	IDA	11278976
GO:1902358	Process	Sulfate transmembrane transport	IBA
GO:1902358	Process	Sulfate transmembrane transport	IDA	11278976, 11834742
GO:1902476	Process	Chloride transmembrane transport	IBA

Other IDs

• MIM: 608480
• HGNC: 14468
• e!Ensembl: ENSG00000112053

Protein

• UniProt ID: Q96RN1
• Protein name: Testis anion transporter 1 (Anion exchange transporter) (Solute carrier family 26 member 8)
• Protein function: Antiporter that mediates the exchange of sulfate and oxalate against chloride ions across a membrane (PubMed:11278976, PubMed:11834742). Stimulates anion transport activity of CFTR (PubMed:22121115, PubMed:23582645). May cooperate with CFTR in t
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00916	Sulfate_transp	92 → 493	Sulfate permease family	Family
  PF01740	STAS	544 → 791	STAS domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expression observed exclusively in testis, restricted to the meiotic phase of the germ cell (PubMed:11834742). Abundant expression located in the seminiferous tubules, concentrated on the luminal side of the tubuli harboring the sperma
• Sequence:

  MAQLERSAISGFSSKSRRNSFAYDVKREVYNEETFQQEHKRKASSSGNMNINITTFRHHV
  QCRCSWHRFLRCVLTIFPFLEWMCMYRLKDWLLGDLLAGISVGLVQVPQGLTLSLLARQL
  IPPLNIAYAAFCSSVIYVIFGSCHQMSIGSFFLVSALLINVLKVSPFNNGQLVMGSFVKN
  EFSAPSYLMGYNKSLSVVATTTFLTGIIQLIMGVLGLGFIATYLPESAMSAYLAAVALHI
  MLSQLTFIFGIMISFHAGPISFFYDIINYCVALPKANSTSILVFLTVVVALRINKCIRIS
  FNQYPIEFPMELFLIIGFTVIANKISMATETSQTLIDMIPYSFLLPVTPDFSLLPKIILQ
  AFSLSLVSSFLLIFLGKKIASLHNYSVNSNQDLIAIGLCNVVSSFFRSCVFTGAIARTII
  QDKSGGRQQFASLVGAGVMLLLMVKMGHFFYTLPNAVLAGIILSNVIPYLETISNLPSLW
  RQDQYDCALWMMTFSSSIFLGLDIGLIISVVSAFFITTVRSHRAKILLLGQIPNTNIYRS
  INDYREIITIPGVKIFQCCSSITFVNVYYLKHKLLKEVDMVKVPLKEEEIFSLFNSSDTN
  LQGGKICRCFCNCDDLEPLPRILYTERFENKLDPEASSINLIHCSHFESMNTSQTASEDQ
  VPYTVSSVSQKNQGQQYEEVEEVWLPNNSSRNSSPGLPDVAESQGRRSLIPYSDASLLPS
  VHTIILDFSMVHYVDSRGLVVLRQICNAFQNANILILIAGCHSSIVRAFERNDFFDAGIT
  KTQLFLSVHDAVLFALSRKVIGSSELSIDESETVIRETYSETDKNDNSRYKMSSSFLGSQ
  KNVSPGFIKIQQPVEEESELDLELESEQEAGLGLDLDLDRELEPEMEPKAETETKTQTEM
  EPQPETEPEMEPNPKSRPRAHTFPQQRYWPMYHPSMASTQSQTQTRTWSVERRRHPMDSY
  SPEGNSNEDV

• Sequence length: 970

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spermatogenic failure 3	Pathogenic	rs1220970427, rs2127298549, rs140210148	RCV002248400 RCV002248401 RCV000043624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AZOOSPERMIA, NONOBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL IMPAIRMENT OF SPERMATOZOA MOTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC FOOT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLC26A8-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthenozoospermia	Asthenozoospermia	BEFREE	23582645		★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	37417617	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia, Nonobstructive	Azoospermia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	23790536		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12783972		★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	12783972	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34493740	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	23790536		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	31231240		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	1289181		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	11840295		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15651064		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	23790536		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12809927		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15651064, 16566978		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	17451964		★☆☆☆☆ Found in Text Mining only
Non-syndromic male infertility due to sperm motility disorder	Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Orphanet			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15651064		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	CTD_human_DG	21822266		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPERMATOGENIC FAILURE 3	Spermatogenic Failure	UNIPROT_DG	23582645		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPERMATOGENIC FAILURE 3	Spermatogenic Failure	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transitional cell carcinoma of bladder	Bladder carcinoma	BEFREE	16566978		★☆☆☆☆ Found in Text Mining only