SLC26A2 - solute carrier family 26 member 2 Gene

Also Known as DTD; EDM4; DTDST; MST153; D5S1708; MSTP157

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1836

About SLC26A2

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:149,960,758-149,987,400 (from NCBI)

This gene has 4 transcripts (splice variants), 200 orthologues, 9 paralogues and is associated with 10 phenotypes. Biased expression in colon (RPKM 149.1), adrenal (RPKM 20.2) and 3 other tissues.

Summary

The diastrophic dysplasia sulfate transporter is a Transmembrane Glycoprotein implicated in the pathogenesis of several human chondrodysplasias. It apparently is critical in cartilage for sulfation of proteoglycans and matrix organization. [provided by RefSeq, Jul 2008]

SLC26A2 Products (1)

mRNA	Protein	Name
NM_000112.4	NP_000103.2	sulfate transporter

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables solute:inorganic anion antiporter activity	IDA IDA: Inferred from direct assay	20219950	GOA
enables sulfate transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	7923357	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in sulfate transmembrane transport	IMP IMP: Inferred from mutant phenotype	7923357	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	7923357	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SLC26A2 Protein Structure

Sulfate_transp

STAS

0
200
400
600
739 a.a.

Protein Preferred Names	Protein Names
sulfate transporter	diastrophic dysplasia protein

Related Diseases

Diseases	Alias
Achondrogenesis, Type Ib	ACG1B Achondrogenesis Type Ib Achondrogenesis Type 1b Achondrogenesis Ib Achondrogenesis Fraccaro Type Achondrogenesis, Fraccaro Type Achondrogenesis, Parenti-Fraccaro Type Achondrogenesis 1b Acg-Ib Fraccaro Achondrogenesis
Atelosteogenesis, Type Ii	De La Chapelle Dysplasia AO2 Atelosteogenesis Type 2 Atelosteogenesis Type Ii Aoii Neonatal Osseous Dysplasia 1 Atelosteogenesis Ii Neonatal Osseous Dysplasia I Atelosteogenesis De La Chapelle Type Atelosteogenesis, Type 2 Mcalister Dysplasia Neonatal Osseous Dysplasia Type 1 Atelosteogenesis 2 Ao-Ii Neonatal Osseous Dysplasia Type I
Epiphyseal Dysplasia, Multiple, 4	EDM4 Multiple Epiphyseal Dysplasia 4 Multiple Epiphyseal Dysplasia With Clubfoot Multiple Epiphyseal Dysplasia Type 4 Multiple Epiphyseal Dysplasia, Autosomal Recessive Multiple Epiphyseal Dysplasia With Bilayered Patellae Med4 Polyepiphyseal Dysplasia Type 4 Rmed Autosomal Recessive Multiple Epiphyseal Dysplasia Multiple Epiphyseal Dysplasia With Bilateral Patellae Epiphyseal Dysplasia Multiple 4 Multiple Epiphyseal Dysplasia With Double-Layered Patella Dysplasia, Epiphyseal, Multiple, Type 4
Diastrophic Dysplasia	Diastrophic Dwarfism DTD Dd Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant Dysplasia, Diastrophic Diastrophic Dysplasia Variant
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
3mc Syndrome 2	3MC2 Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia Oculo-Skeletal-Abdominal Syndrome Osa Syndrome Carnevale Syndrome Carnevale Syndrome, Formerly Carnevale Krajewska Fischetto Syndrome 3mc Syndrome, Type 2
3mc Syndrome	Craniofacial-Ulnar-Renal Syndrome Malpuech Facial Clefting Syndrome Oculopalatoskeletal Syndrome Carnevale Syndrome Michels Syndrome Malpuech-Michels-Mingarelli-Carnevale Syndrome Carnevale-Krajewska-Fischetto Syndrome Craniosynostosis With Lid Anomalies Malpuech Syndrome Mingarelli Syndrome Oculo-Skeletal-Abdominal Syndrome Osa Syndrome Ptosis Of Eyelids With Diastasis Recti And Hip Dysplasia Ptosis-Strabismus-Rectus Abdominis Diastasis
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders
Atelosteogenesis	Atelosteogenesis, Type 1
Achondrogenesis	Achondrogenesis Syndrome
Multiple Epiphyseal Dysplasia	Med Polyepiphyseal Dysplasia Edm Epiphyseal Dysplasia, Multiple, 1 Epiphyseal Dysplasia, Multiple, 2 Epiphyseal Dysplasia, Multiple, 3 Epiphyseal Dysplasia, Multiple, 4 Epiphyseal Dysplasia, Multiple, 5 Epiphyseal Dysplasia, Multiple Edm1 Edm2 Edm3 Edm4 Edm5 Epiphyseal Dysplasia, Fairbank Type Epiphyseal Dysplasia, Ribbing Type Multiple Epiphyseal Dysplasia, Autosomal Dominant Multiple Epiphyseal Dysplasia, Autosomal Recessive Rmed Dysplasia, Epiphyseal, Multiple Osteochondrodysplasias
Spondylolysis	Acquired Spondylolysis
Pseudoachondroplasia	PSACH Pseudoachondroplastic Dysplasia Pseudoachondroplastic Spondyloepiphyseal Dysplasia Syndrome Spondyloepiphyseal Dysplasia, Pseudoachondroplastic Pseudoachondroplastic Spondyloepiphyseal Dysplasia Spondyloepiphyseal Dysplasia Pseudoachondroplastic
Clubfoot	Congenital Talipes Equinovarus Congenital Clubfoot Congenital Equinovarus Equinovarus Deformity Of Foot Club Foot
Otosclerosis	Otospongiosis
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Pseudodiastrophic Dysplasia	PDD Pseudodiastrophic Dwarfism
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Spondyloepiphyseal Dysplasia Chst3-Related Skeletal Dysplasia Humerospinal Dysostosis Spondyloepiphyseal Dysplasia, Omani Type Chondrodysplasia With Multiple Dislocations SEDCJD Hsd Cdmd Humero-Spinal Dysostosis Kozlowski Celermajer Tink Syndrome Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type Larsen Syndrome, Recessive Type Humero-Spinal Dysostosis With Congenital Heart Disease Omani Type Sed Chst3 Deficiency Chst3-Related Dysplasia Recessive Larsen Syndrome Autosomal Recessive Larsen Syndrome Sed With Luxations, Chst3 Type Sed, Omani Type Sdcd, Chst3 Type Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type Sed Omani Type Spondyloepiphyseal Dysplasia Omani Type Larsen Syndrome, Autosomal Recessive Mucopolysaccharidosis Iv Spondyloepiphyseal Dysplasia, Congenita
Osteogenesis Imperfecta, Type Ix	Osteogenesis Imperfecta Type 9 Osteogenesis Imperfecta Type Ix OI9 Oi Type Ix Osteogenesis Imperfecta Sillence Type Ii/Iii Without Abnormality Of Type I Collagen Oi, Type Ix Oi 9 Osteogenesis Imperfecta 9 Oi-Ix
Epiphyseal Dysplasia, Multiple, 6	Multiple Epiphyseal Dysplasia 6 EDM6 Dysplasia, Epiphyseal, Multiple, Type 6
Hypochondrogenesis	Achondrogenesis Type Ii/Hypochondrogenesis
Epiphyseal Dysplasia, Multiple, 5	EDM5 Multiple Epiphyseal Dysplasia 5 Bhmed Multiple Epiphyseal Dysplasia Type 5 Multiple Epiphyseal Dysplasia, Matn3-Related Microepiphyseal Dysplasia, Bilateral Hereditary Bilateral Hereditary Microepiphyseal Dysplasia Multiple Epiphyseal Dysplasia Matn3-Related Epiphyseal Dysplasia Multiple 5 Multiple Epiphyseal Dysplasia, Matn3 Related Bilateral Hereditary Micro-Epiphyseal Dysplasia Med5 Polyepiphyseal Dysplasia Type 5 Dysplasia, Epiphyseal, Multiple, Type 5
Netherton Syndrome	NETH Ns Netherton Disease Comel-Netherton Syndrome Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige Bamboo Hair Syndrome Ichthyosis Linearis Circumflexa Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige Ilc Nts N Syndrome
Desbuquois Dysplasia	Desbuquois Syndrome Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification Dysplasia, Desbuquois
Epiphyseal Dysplasia, Multiple, 1	EDM1 Multiple Epiphyseal Dysplasia 1 Multiple Epiphyseal Dysplasia Type 1 Med1 Multiple Epiphyseal Dysplasia Comp-Related Polyepiphyseal Dysplasia Type 1 Multiple Epiphyseal Dysplasia, Comp-Related Epiphyseal Dysplasia Multiple 1 Epiphyseal Dysplasia, Multiple 1 Dysplasia, Epiphyseal, Multiple, Type 1
Bone Development Disease
Shox-Related Short Stature	Idiopathic Familial Short Stature
Larsen Syndrome	LRS Larsen Syndrome, Dominant Type Dominant Larsen Syndrome Autosomal Dominant Larsen Syndrome Larsens Syndrome
Achondrogenesis, Type Ii	Achondrogenesis Type Ii ACG2 Achondrogenesis, Langer-Saldino Type Achondrogenesis Type 2 Chondrogenesis Imperfecta Achondrogenesis, Type Ib, Formerly Achondrogenesis, Type Ii Or Hypochondrogenesis Achondrogenesis 2 Acg-Ii Achondrogenesis-Hypochondrogenesis Type Ii Achondrogenesis Langer-Saldino Type Achondrogenesis-Hypochondrogenesis, Type Ii Hypochondrogenesis
Kniest Dysplasia	Kniest Syndrome Metatropic Dwarfism, Type Ii Kniest Chondrodystrophy Metatropic Dysplasia Type Ii Swiss Cheese Cartilage Dysplasia KD Ks Metatropic Dwarfism Type Ii Dysplasia, Kniest
Epiphyseal Dysplasia, Multiple, 2	EDM2 Multiple Epiphyseal Dysplasia 2 Dysplasia, Epiphyseal, Multiple, Type 2
Spondyloepiphyseal Dysplasia Congenita	SEDC Sed Congenita Spondyloepiphyseal Dysplasia, Congenital Type Late Spondyloepiphyseal Dysplasia Sed, Congenital Type Congenital Spondyloepiphyseal Dysplasia Spranger-Wiedemann Disease Spondyloepiphyseal Dysplasia Congenital Type Dysplasia, Spondyloepiphyseal, Congenita Spondyloepiphyseal Dysplasia, Congenita Spondyloepiphyseal Dysplasia Tarda, X-Linked
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Cerebellopontine Angle Tumor	Cerebellopontine Angle Tumour Neoplasm Of The Cerebellopontine Angle
Schneckenbecken Dysplasia	SHNKND Chondrodysplasia, Lethal Neonatal, With Snail-Like Pelvis Chondrodysplasia Lethal Neonatal With Snail Like Pelvis Chondrodysplasia With Snail-Like Pelvis Slc35d1-Cdg Dysplasia, Schneckenbecken
Brachyolmia	Brachyrachia
Spermatocele
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Diarrhea	Diarrhoea Diarrhea Of Presumed Infectious Origin
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Brachydactyly
Orofacial Cleft	Cleft, Orofacial

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS13136	SLC26A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC26A2	VGNC	VGNC:34777
Rattus norvegicus	SLC26A2	RGD	RGD:620622
Felis catus	SLC26A2	VGNC	VGNC:65283
Macaca mulatta	SLC26A2	VGNC	VGNC:84492
Canis familiaris	SLC26A2	VGNC	VGNC:46322
Mus musculus	SLC26A2	MGD	MGI:892977
Others	SLC26A2	NCBI