SLCtables

SLC26A3

Protein name: DRA, CLD, SLC26A3 Aliases: N/D Substrates: Cl-, HCO3-, oxalate Transport type: Exchanger / Cl-, HCO3-, oxalate Tissue and cellular expression: enterocytes, sperrm, epididymis Subcellular expression: apical Disease: congenital chloride diarrhea Locus: 7q31 Sequence ID: NP_000102.1, NM_000111.2 Gene ID: 1811 Splice variants: 1 mRNA, 1 ORF

S26A3_HUMAN (UniProt)

Gene names: SLC26A3, DRA
Protein names and data: S26A3_HUMAN, Full=Chloride anion exchanger, Full=Down-regulated in adenoma;Short=Protein DRA;Full=Solute carrier family 26 member 3; Length: 764 a.a., Mass: 84505 Da,
fasta formatted sequence
Function: Chloride/bicarbonate exchanger. Mediates the efficient absorbtion of chloride ions in the colon, participating in fluid homeostasis
Disease: (OMIM: 126650 214700) Defects in SLC26A3 are the cause of diarrhea type 1 (DIAR1) [MIM:214700]; also known as congenital chloride diarrhea (CLD). DIAR1 is a disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature
Cellular location: Apical cell membrane; Multi-pass membrane protein

Database cross-references

UniProt: P40879
NextBio: 7381
OMIM: 126650 214700
Ensembl: ENST00000340010
GeneCard: GC07M107765
PharmGenUCSF: SLC26A3
Guide to Pharmacology: SLC26A3 (1099)
Chloride/bicarbonate exchangers (1099)
HGNC: HGNC:3018

Genetic variants

See also Ensembl:ENST00000340010

68 - 68 R -> Q (in dbSNP:rs10280704). VAR_053660 10280704
120 - 120 G -> S (in DIAR1). VAR_007428
124 - 124 H -> L (in DIAR1). VAR_007429
129 - 129 P -> L (in DIAR1). VAR_066062
131 - 131 P -> L (in DIAR1). VAR_066063
131 - 131 P -> R (in DIAR1). VAR_007430
136 - 136 M -> I (in DIAR1). VAR_066064
204 - 204 Y -> D (in DIAR1). VAR_066065
206 - 206 S -> P (in DIAR1). VAR_012777
220 - 220 H -> P (in DIAR1). VAR_066066
307 - 307 C -> W (in dbSNP:rs34407351). VAR_007431 34407351
317 - 317 Missing (in DIAR1). VAR_007432
343 - 343 C -> Y (in DIAR1). VAR_066067
344 - 349 FGIAMV -> DA (in DIAR1). VAR_066068
379 - 379 G -> A (in DIAR1). VAR_066069
398 - 398 S -> F (in DIAR1). VAR_066070
468 - 468 D -> V (in DIAR1). VAR_012778
496 - 496 L -> R (in DIAR1). VAR_066071
520 - 520 Y -> C (in DIAR1). VAR_066072
521 - 521 K -> N (in DIAR1). VAR_066073
527 - 527 Missing (in DIAR1). VAR_007433
544 - 544 I -> N (in DIAR1). VAR_066074
554 - 554 R -> Q (in dbSNP:rs2301635). VAR_053661 2301635
652 - 652 D -> N (in DIAR1). VAR_066075
753 - 753 N -> S (in dbSNP:rs35342296). VAR_053662 35342296