NIPA2 - NIPA magnesium transporter 2 Gene

Homo sapiens

Also known as SLC57A2

Gene ID: 81614 | Gene type: protein coding

About NIPA2

Cytogenetic location: 15q11.2 Genomic coordinates (GRCh38): 15:22,838,666-22,868,384 (from NCBI)

This gene has 16 transcripts (splice variants), 216 orthologues, 5 paralogues and is associated with 1 phenotype. Ubiquitous expression in colon (RPKM 14.5), appendix (RPKM 13.2) and 25 other tissues.

Summary

This gene encodes a possible magnesium transporter. This gene is located adjacent to the imprinted domain in the Prader-Willi syndrome deletion region of chromosome 15. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 3, 7 and 21.[provided by RefSeq, May 2010]

NIPA2 Products(6)

mRNA	Protein	Name
NM_001008860.3	NP_001008860.1	magnesium transporter NIPA2 isoform a
NM_001008892.3	NP_001008892.1	magnesium transporter NIPA2 isoform a
NM_001008894.3	NP_001008894.1	magnesium transporter NIPA2 isoform b
NM_001184888.2	NP_001171817.1	magnesium transporter NIPA2 isoform b
NM_001184889.2	NP_001171818.1	magnesium transporter NIPA2 isoform a
NM_030922.7	NP_112184.4	magnesium transporter NIPA2 isoform a

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	Reference	Source
involved in magnesium ion transport	IMP IMP: Inferred from mutant phenotype	25347071	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	25347071	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

NIPA2 Protein Structure

Mg_trans_NIPA

0
100
200
300
360 a.a.

Protein Preferred Names

Protein Names

magnesium transporter NIPA2

non imprinted in Prader-Willi/Angelman syndrome 2

Related Diseases

Diseases

Alias

Chromosome 15q11.2 Deletion Syndrome

15q11.2 Microdeletion Syndrome	15q11.2 Bp1-Bp2 Microdeletion Syndrome
Del(15)(Q11.2)	Monosomy 15q11.2
15q11.2 Microdeletion	Chromosome 15q11.2 Deletion
Chromosome 15q11.2 Microdeletion	Chromosome Deletion Syndrome 15q11.2
Microdeletion 15q11.2	Duplication 15q11-Q13 Syndrome

Angelman Syndrome

AS	Happy Puppet Syndrome
Happy Puppet Syndrome, Formerly	Puppetlike Syndrome

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

Spastic Paraplegia 6, Autosomal Dominant

SPG6	Fsp3
Hereditary Spastic Paraplegia 6	Autosomal Dominant Spastic Paraplegia Type 6
Spastic Paraplegia 6	Familial Spastic Paraplegia Autosomal Dominant 3
Familial Spastic Paraplegia, Autosomal Dominant, 3	Autosomal Dominant Familial Spastic Paraplegia Type 3
Autosomal Dominant Spastic Paraplegia 6	Spastic Paraplegia-6
Paraplegia, Spastic, Type 6

Cataract 25

Cataract, Central Saccular, With Sutural Opacities	CTRCT25
Ccsso	Cataract, Central Pouch-Like, With Sutural Opacities
Central Pouch-Like Cataract With Sutural Opacities	Central Saccular Cataract With Sutural Opacities
Early-Onset Cataract With Y-Shaped Suture Opacities

Dyscalculia

Disorder Of Arithmetical Skills	Mathematics Disorder
Developmental Arithmetic Disorder

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis	Congenital Ichthyosiform Erythroderma
Li	Congenital Nonbullous Ichthyosiform Erythroderma
Arci	Congenital Lamellar Ichthyosis
Nonbullous Congenital Ichthyosiform Erythroderma	Cie
Congenital Non-Bullous Ichthyosiform Erythroderma	Erythrodermic Ichthyosis
Nbcie	Ncie
Non-Bullous Congenital Ichthyosiform Erythroderma	Collodion Baby
Ichthyosis, Lamellar	Non Bullous Congenital Ichthyosiform Erythroderma
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form	Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
Collodion Baby Syndrome	Ichthyoses, Lamellar
Nbie	Nonbullous Ichthyosiform Erythroderma
Classic Lamellar Ichthyosis	Ichthyosiform Erythroderma Nonbullous Congenital
Ichthyosiform Erythroderma Congenital	Ichthyosis, Congenital, Autosomal Recessive
Ichthyosiform Erythroderma, Congenital	Collodion Fetus
Non-Bullous Ichthyosiform Erythroderma

Chromosome 15q13.3 Deletion Syndrome

Chromosome 15q13.3 Microdeletion Syndrome	15q13.3 Microdeletion Syndrome
15q13.3 Microdeletion	Microdeletion 15q13.3 Syndrome
Del(15)(Q13.3)	Monosomy 15q13.3

Childhood Electroclinical Syndrome

Williams-Beuren Region Duplication Syndrome

7q11.23 Duplication Syndrome	7q11.23 Microduplication Syndrome
Chromosome 7q11.23 Duplication Syndrome	Wbs Duplication Syndrome
Somerville-Van Der Aa Syndrome	Dup(7)(Q11.23)
Trisomy 7q11.23	William-Beuren Region Duplication Syndrome
Chromosome 7q11.23 Duplication

Chromosome 22q11.2 Duplication Syndrome

Chromosome 22q11.2 Microduplication Syndrome	22q11.2 Microduplication Syndrome
22q11.2 Duplication Syndrome	Duplication 22q11.2
Trisomy 22q11.2	22q11.2 Duplication
Dup(22)(Q11)

Childhood Absence Epilepsy

Pyknolepsy	Petit Mal Epilepsy
Absence Seizures	Absence Seizure
Petit Mal Seizure	Absence Epilepsy, Childhood
Pykno-Epilepsy	Epilepsy, Absence
Absence Epilepsy	Pycnolepsy

Reading Disorder

Specific Reading Disorder	Reading
Dyslexia	Developmental Reading Disorder

Developmental Coordination Disorder

Motor Skills Disorders

Ichthyosis

Ichthyoses	Non-Syndromic Ichthyosis
Congenital Ichthyosis

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Dyslexia

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder	ADHD
Attention Deficit Disorder	Attention Deficit-Hyperactivity Disorder, Susceptibility To
Attention Deficit Disorder With Hyperactivity	Hyperkinetic Disorder
Hyperactivity Of Childhood	Attention-Deficit/Hyperactivity Disorder
Add	Addh
Attention Deficit	Attention Deficit Disorder Of Childhood With Hyperactivity
Attention Deficit Disorder With Hyperactivity Syndrome	Hyperkinetic Syndrome
Attention-Deficit Hyperactivity Disorder	Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
Disturbance Of Activity And Attention	Disorder Of Activity And Attention
Adhd - [Attention Deficit Hyperactivity Disorder]	Hyperkinetic Disorders
Disorder Of Activity And Attention With Hyperkinesia	Attention Deficit Syndrome With Hyperactivity

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Williams-Beuren Syndrome

Williams Syndrome	WBS
Wms	Deletion 7q11.23
Monosomy 7q11.23	Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb
Fanconi Schlesinger Syndrome	Beuren Syndrome
Elfin Facies Syndrome	Elfin Facies With Hypercalcemia
Hypercalcemia-Supravalvar Aortic Stenosis	Ws

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09303	NIPA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	NIPA2	VGNC	VGNC:53151
Mus musculus	NIPA2	MGD	MGI:1913918
Rattus norvegicus	NIPA2	RGD	RGD:1306051
Felis catus	NIPA2	VGNC	VGNC:104570
Macaca mulatta	NIPA2	VGNC	VGNC:75197
Bos taurus	NIPA2	VGNC	VGNC:53154

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