NIPA2 - NIPA magnesium transporter 2 Gene

Also Known as SLC57A2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 81614

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	References	Source
involved in magnesium ion transport	IMP IMP: Inferred from mutant phenotype	25347071	GOA

Cellular Component GO Annotation	Evidence	References	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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10709	PLIN4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09303	NIPA2 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	NIPA2	NCBI