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FLASH GENE

Symbol

SLC26A2

contributors: mct/npt - updated : 28-02-2014

HGNC name	solute carrier family 26 (sulfate transporter), member 2
HGNC id	10994

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ACG1B achondrogenesis IB ATSG2 atelosteogenesis, type II DTD diastrophic dysplasia EDM4 epiphyseal dysplasia multiple 4
Location	5q33.1      Physical location : 149.340.299 - 149.366.959
Synonym name	diastrophic dysplasia sulfate transporter
	sulfate anion transporter 1
Synonym symbol(s)	DTDST, MST153, D5S1708, MSTP157, DTD

DNA

TYPE	functioning gene
STRUCTURE	26.66 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D5S413 - SLC26A2 - D5S2015 - D5S2013 - qter
Authors	UCSC (2009)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000112 3 - 8082 NP_000103 81.5 739 - 1998 9822202

EXPRESSION

Type	ubiquitous

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon     Homo sapiens   salivary gland       highly Homo sapiens Endocrine pancreas       highly Homo sapiens Reproductive female system placenta       Homo sapiens Respiratory respiratory tract trachea     highly Homo sapiens Urinary kidney tubule convoluted tubule proximal tubule   Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective cartilage     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell Homo sapiens not specific chondrocyte Homo sapiens Respiratory epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

Text	most abundant sulfate transporter mRNAs, which localized to cytotrophoblast cells(

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N- and C-cytoplasmic termini
	twelve transmembrane segments (12TM)
	a large cytoplasmic tail with a sulfate transporter motif
	a relatively hydrophobic region near the C terminus, the STAS domain (sulfate transporter and anti-sigma factor antagonist)

conjugated

GlycoP , PhosphoP

HOMOLOGY

interspecies	homolog to rattus Slc26a2 (81.1 pc)
	homolog to murine Slc26a2 (80.9 pc)

Homologene

FAMILY	anion exchanger family
	SLC26A/SULP transporter family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION	involved in proteoglycan sulfate activation
	may play a role in endochondral bone formation
	functions as an electroneutral SO42&
	8722;/OH&
	8722;(H+)/Cl&
	8722; exchanger
	physiological roles for SLC13A4 and SLC26A2 in human placental sulfate transport
	multiple roles in chondrocyte biology and importance of SLC26A2-mediated protein sulfation in cell signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

active transport

text	Na+ independent sulfate transporter

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

regulation of SLC26A2 by an extracellular anion binding site

ASSOCIATED DISORDERS

corresponding disease(s)

ACG1B , ATSG2 , DTD , EDM4

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Nephrolithiasis in the Slc26a6(-/-) mouse is accompanied by 50-75p100 reduction in intestinal oxalate secretion with unchanged intestinal oxalate absorption
	collagen fibrils in bone were thinner and less organized in dtd compared to wild-type mice, suggesting that the low bone mass observed in mutant mice could possibly be linked to the different bone matrix compositions/organizations in dtd mice triggering changes in osteoblast and osteoclast activities