Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	116369
Gene name	Solute carrier family 26 member 8
Gene symbol	SLC26A8
Synonyms (NCBI Gene)	AZONSPGF3TAT1
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

Show/Hide all (2)

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

Show/Hide all (2)

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

Show/Hide all (23)

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

MIM	HGNC	e!Ensembl
608480	14468	ENSG00000112053

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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Spermatogenic failure 3	Pathogenic	rs1220970427, rs2127298549, rs140210148	RCV002248400 RCV002248401 RCV000043624

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
SLC26A8-related disorder	Likely benign	rs142275991, rs760904652, rs1485604306, rs72923104, rs138344479, rs1387517749, rs768434254, rs116528901, rs191020229	RCV003980930 RCV003921887 RCV003903902 RCV003914258 RCV003941961 RCV003941398 RCV003934092 RCV003955869 RCV003923067

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthenozoospermia	Associate	37417617
Carcinoma Basal Cell	Associate	12783972
Carcinoma Hepatocellular	Associate	34493740

SLC26A8 (solute carrier family 26 member 8)