Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transporter for dibasic amino acids

The SLC3A2 gene encodes an amino acid transporter for neutral and dibasic amino acids which is present in the kidney, but whose clinical impact has yet to be determined.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Aminoaciduria
Cystinuria
SLC3A1
SLC7A9
Dicarboxylic aminoaciduria
SLC1A1
Erythrocyte lactate transporter defect
SLC16A1
Fanconi renotubular syndrome
Autosomal dominant idiopathic Fanconi syndrome
HNF4A
Fanconi renotubular syndrome 1
Fanconi renotubular syndrome 2
SLC34A1
Fanconi renotubular syndrome 3
EHHADH
Fanconi-Bickel syndrome
SLC2A2
Hartnup disorder
SLC6A19
Hyperglycinuria
SLC36A2
SLC6A19
SLC6A20
Iminoglycinuria
SLC36A2
SLC6A19
SLC6A20
Lysinuric protein intolerance
SLC7A7
Monocarboxylate transporter 1 deficiency
SLC16A1
SLC36A1
SLC3A2
SLC6A18
SLC7A8

References:

1.

Courseaux A et al. (1996) Definition of the minimal MEN1 candidate area based on a 5-Mb integrated map of proximal 11q13. The European Consortium on Men1, (GENEM 1; Groupe d'Etude des Néoplasies Endocriniennes Multiples de type 1).

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2.

Rochelle JM et al. (1992) A linkage map of mouse chromosome 19: definition of comparative mapping relationships with human chromosomes 10 and 11 including the MEN1 locus.

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3.

Michalak M et al. (1986) Inhibition of Na+/Ca2+ exchanger activity in cardiac and skeletal muscle sarcolemmal vesicles by monoclonal antibody 44D7.

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4.

Gottesdiener KM et al. (1988) Isolation and structural characterization of the human 4F2 heavy-chain gene, an inducible gene involved in T-lymphocyte activation.

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5.

Lindsten T et al. (1988) Regulation of 4F2 heavy-chain gene expression during normal human T-cell activation can be mediated by multiple distinct molecular mechanisms.

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6.

Quackenbush E et al. (1987) Molecular cloning of complementary DNAs encoding the heavy chain of the human 4F2 cell-surface antigen: a type II membrane glycoprotein involved in normal and neoplastic cell growth.

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7.

Lumadue JA et al. (1987) Cloning, sequence analysis, and expression of the large subunit of the human lymphocyte activation antigen 4F2.

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8.

Posillico JT et al. (1987) Binding of monoclonal antibody (4F2) to its cell surface antigen on dispersed adenomatous parathyroid cells raises cytosolic calcium and inhibits parathyroid hormone secretion.

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9.

Hemler ME et al. (1982) Characterization of antigen recognized by the monoclonal antibody (4F2): different molecular forms on human T and B lymphoblastoid cell lines.

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10.

Peters PG et al. (1982) Genetic and biochemical characterization of a human surface determinant on somatic cell hybrids: the 4F2 antigen.

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11.

Francke U et al. (1983) Chromosome mapping of human cell surface molecules: monoclonal anti-human lymphocyte antibodies 4F2, A3D8, and A1G3 define antigens controlled by different regions of chromosome 11.

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12.

Haynes BF et al. (1981) Characterization of a monoclonal antibody (4F2) that binds to human monocytes and to a subset of activated lymphocytes.

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13.

Mastroberardino L et al. (1998) Amino-acid transport by heterodimers of 4F2hc/CD98 and members of a permease family.

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14.

Sato H et al. (1999) Cloning and expression of a plasma membrane cystine/glutamate exchange transporter composed of two distinct proteins.

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15.

Feral CC et al. (2005) CD98hc (SLC3A2) mediates integrin signaling.

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16.

Fogelstrand P et al. (2009) Dependence of proliferative vascular smooth muscle cells on CD98hc (4F2hc, SLC3A2).

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17.

Cantor J et al. (2011) Loss of T cell CD98 H chain specifically ablates T cell clonal expansion and protects from autoimmunity.

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18.

NCBI article

NCBI 6520 [^]
19.

OMIM.ORG article

Omim 158070 [^]
20.

Wikipedia article

Wikipedia EN (SLC3A2) [^]
Update: April 29, 2019