SLC36A2 - solute carrier family 36 member 2 Gene

Also Known as PAT2; TRAMD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 153201

About SLC36A2

Cytogenetic location: 5q33.1 Genomic coordinates (GRCh38): 5:151,314,972-151,347,559 (from NCBI)

This gene has 6 transcripts (splice variants), 276 orthologues, 15 paralogues and is associated with 3 phenotypes. Restricted expression toward kidney (RPKM 31.7).

Summary

This gene encodes a pH-dependent proton-coupled Amino acid Transporter that belongs to the amino acid Auxin permease 1 protein family. The encoded protein primarily transports small Amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010]

SLC36A2 Products (1)

mRNA	Protein	Name
NM_181776.3	NP_861441.2	proton-coupled amino acid transporter 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables amino acid:proton symporter activity	IDA IDA: Inferred from direct assay	12809675	GOA
enables proline:proton symporter activity	IDA IDA: Inferred from direct assay	12809675	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proline transmembrane transport	IMP IMP: Inferred from mutant phenotype	19033659	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	19033659	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

SLC36A2 Protein Structure

Aa_trans

0
100
200
300
400
483 a.a.

Protein Preferred Names	Protein Names
proton-coupled amino acid transporter 2	solute carrier family 36 (proton/amino acid symporter), member 2

Related Diseases

Diseases	Alias
Iminoglycinuria	Iminoglycinuria, Digenic IG
Hyperglycinuria	Glycinuria With Or Without Oxalate Urolithiasis Glycinuria With Or Without Oxalate Nephrolithiasis Iminoglycinuria Type Ii HG
Otosalpingitis	Eustachian Salpingitis Eustachian Tube Salpingitis Rhinosalpingitis Tubotympanitis Eustachian Tube Inflammation Salpingitis Of Ear
Eustachian Tube Disease	Eustachian Tube Disorder Auditory Tube Disorder Disease Of Eustachian Tube Eustachian Tube Dysfunction Et- [Eustachian Tube Disorder] Etd - [Eustachian Tube Dysfunction]
Non-Suppurative Otitis Media	Nonsuppurative Otitis Media
Epidemic Typhus	Typhus Typhus Fever Epidemic Louse-Borne Typhus Fever Due To Rickettsia Prowazekii Murine Typhus Classical Typhus Endemic Flea-Borne Typhus Endemic Typhus Fever Epidemic Louse-Borne Typhus Famine Fever Flea-Borne Typhus Jail Fever Louse-Borne Typhus Mexican Typhus Shop Typhus Urban Typhus Brill-Zinsser Disease Endemic Typhus Sylvatic Typhus Epidemic Typhus European Typhus Exanthematic Typhus Fever Exanthematous Typhus Flea Typhus Flea-Borne Rickettsiosis Hospital Fever Louse-Borne [Epidemic] Typhus Louse-Borne Rickettsiosis Moscow Typhus Murine [Endemic] Typhus Petechial Fever Prison Fever Rat Flea Typhus Ship Fever Typhus Exanthematique Typhus, Endemic Flea-Borne Typhus, Epidemic Louse-Borne Typhus Group Rickettsial Disease Relapsing Fever Typhus Fever Nos Typhus Nos Epidemic Typhus Fever Louse-Borne Typhus Fever Classical Typhus Fever Louse-Borne Tabardillo Epidemic Typhus Fever Due To Rickettsia Prowazekii Endemic Murine Typhus Flea-Borne Typhus Fever Murine Endemic Flea Typhus Rat Typhus Typhus Due To Rickettsia Typhi Flea-Borne Tabardillo Rickettsia Typhi Rickettsiosis Mexican Fever Murine Flea-Borne Typhus Mooser Bodies Tsutsugamushi Fever Kedani Fever Mite-Borne Typhus Mite-Borne Typhus Due To Rickettsia Tsutsugamushi Scrub Typhus Tsutsugamushi Tsutsugamushi Disease Scrub Mite-Borne Typhus Sumatran Mite Fever Japanese River Fever Kedani Typhus Rickettsia Tsutsugamushi Rickettsiosis Sumatran Mite Typhus Tropical Typhus Japanese Typhus
Nephrotic Syndrome, Type 22	NPHS22 Nephrotic Syndrome Type 22 Nephrotic Syndrome 22
Queensland Tick Typhus	Australian Tick Typhus North Queensland Tick Typhus Rickettsia Australis Spotted Fever
Brill-Zinsser Disease	Recrudescent Typhus Brill Disease Brill Zinsser Disease Brill'S Disease Latent Typhus Sporadic Typhus Typhus, Epidemic Louse-Borne Recrudescent Typhus Due To Rickettsia Prowazekii Recrudescent Typhus Fever Recrudescent Brill-Zinsser Typhus Due To Rickettsia Prowazekii Recrudescent Brill Disease Recrudescent Typhus Fever Due To Rickettsia Prowazekii
Digenic Disease
Retinitis Pigmentosa 68	RP68 Retinitis Pigmentosa, Type 68
Endemic Typhus	Murine Typhus Cat Flea Rickettsiosis Fleaborne Typhus Rat-Flea Typhus Rickettsia Felis Spotted Fever Shop Typhus Toulon Typhus Urban Typhus Urban Typhus Of Malaya Flea-Borne Typhus Endemic Flea-Borne Typhus
Nephrotic Syndrome, Type 21	NPHS21 Nephrotic Syndrome Type 21 Nephrotic Syndrome 21
Japanese Spotted Fever	Oriental Spotted Fever Rickettsia Japonica Spotted Fever
Spinal Muscular Atrophy, Type Iv	SMA4 Spinal Muscular Atrophy, Adult Form Spinal Muscular Atrophy 4 Spinal Muscular Atrophy-4 Adult Spinal Muscular Atrophy Spinal Muscular Atrophy, Proximal, Adult, Autosomal Recessive Proximal Spinal Muscular Atrophy Type 4 Sma Type 4 Sma Type Iv Sma-Iv Sma Iv Spinal Muscular Atrophy Adult Form Spinal Muscular Atrophy Proximal Adult Autosomal Recessive Spinal Muscular Atrophy Type Iv Atrophy, Muscular, Spinal, Type Iv Myelopathic Muscular Atrophy
Rocky Mountain Spotted Fever	Brazillian Spotted Choix Exanthematic Typhus Of Sao Paulo Fiebre Maculosa Fiebre Manchada Sao Paulo Typhus So Paulo Fever Tick Typhus Tobia Fever Rmsf Typhus, Tick
Vestibulocochlear Nerve Disease	Vestibulocochlear Nerve Diseases Acoustic Nerve Disease Cochlear Nerve Diseases Disturbance Of Vestibulocochlear Nerve Auditory Nerve Disorder Disorder Of Acoustovestibular Nerve Disorder Of Eighth Nerve Eighth Cranial Nerve Disorder Disease Of Eighth Cranial Nerve Disease Of Acoustic Nerve Disease Of Auditory Nerve Disorder Of 8th Cranial Nerve Auditory Nerve Lesion Cochlear Nerve Disorder
Vestibular Neuronitis	Vestibular Neuritis Epidemic Neurolabyrinthitis
Spinal Muscular Atrophy, Type Iii	SMA3 Juvenile Spinal Muscular Atrophy Kugelberg-Welander Disease Sma Iii Kugelberg-Welander Syndrome Kws Muscular Atrophy, Juvenile Spinal Muscular Atrophy, Mild Childhood And Adolescent Form Spinal Muscular Atrophy-3 Spinal Muscular Atrophy Type 3 Spinal Muscular Atrophy, Type Iii, Modifier Of Type Iii Spinal Muscular Atrophy Sma 3 Proximal Spinal Muscular Atrophy Type 3 Sma Type 3 Sma Type Iii Sma-Iii Spinal Muscular Atrophy 3 Spinal Muscular Atrophy Mild Childhood And Adolescent Form Spinal Muscular Atrophy Type Iii Wohlfart-Kugelberg-Welander Disease Atrophy, Muscular, Spinal, Type Iii
Spinal Muscular Atrophy, Type Ii	SMA2 Sma Ii Muscular Atrophy, Spinal, Intermediate Type Muscular Atrophy, Spinal, Infantile Chronic Form Intermediate Spinal Muscular Atrophy Spinal Muscular Atrophy Type Ii Spinal Muscular Atrophy-2 Spinal Muscular Atrophy 2 Spinal Muscular Atrophy Type 2 Dubowitz Disease Proximal Spinal Muscular Atrophy Type 2 Sma Type 2 Sma Type Ii Sma-Ii Spinal Muscular Atrophy Infantile Chronic Form Spinal Muscular Atrophy Intermediate Type Spinal Muscular Atrophies Of Childhood Atrophy, Muscular, Spinal, Type Ii Muscular Atrophy, Spinal, Type Ii

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13211	SLC36A2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SLC36A2	MGD	MGI:1891430
Macaca mulatta	SLC36A2	VGNC	VGNC:77510
Bos taurus	SLC36A2	VGNC	VGNC:34839
Canis familiaris	SLC36A2	VGNC	VGNC:46383
Rattus norvegicus	SLC36A2	RGD	RGD:620492
Others	SLC36A2	NCBI