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NIPA2 NIPA magnesium transporter 2 [ Homo sapiens (human) ]

Gene ID: 81614, updated on 5-May-2020

Summary

Official Symbol
NIPA2provided by HGNC
Official Full Name
NIPA magnesium transporter 2provided by HGNC
Primary source
HGNC:HGNC:17044
See related
Ensembl:ENSG00000140157 MIM:608146
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLC57A2
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]
Expression
Ubiquitous expression in colon (RPKM 14.5), appendix (RPKM 13.2) and 25 other tissues See more
Orthologs

Genomic context

See NIPA2 in Genome Data Viewer
Location:
15q11.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (22838641..22868384)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (23004684..23034427, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC283683 Neighboring gene Sharpr-MPRA regulatory region 3977 Neighboring gene golgin subfamily A member 6-like protein 2 Neighboring gene NIPA magnesium transporter 1 Neighboring gene Sharpr-MPRA regulatory region 8478 Neighboring gene cytoplasmic FMR1 interacting protein 1 Neighboring gene tubulin gamma complex associated protein 5

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2012-04-04)

ClinGen Genome Curation Page

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC5466

Gene Ontology Provided by GOA

Function Evidence Code Pubs
magnesium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
early endosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
magnesium transporter NIPA2
Names
non imprinted in Prader-Willi/Angelman syndrome 2
non-imprinted in Prader-Willi/Angelman syndrome region protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021303.1 RefSeqGene

    Range
    5001..34744
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001008860.2NP_001008860.1  magnesium transporter NIPA2 isoform a

    See identical proteins and their annotated locations for NP_001008860.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (a).
    Source sequence(s)
    AC011767, BK001120, DA082125, R56244
    Consensus CDS
    CCDS73693.1
    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Related
    ENSP00000501489.1, ENST00000674477.1
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  2. NM_001008892.2NP_001008892.1  magnesium transporter NIPA2 isoform a

    See identical proteins and their annotated locations for NP_001008892.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (a).
    Source sequence(s)
    AC011767, BC011775, DA082125, R56244, U90904
    Consensus CDS
    CCDS73693.1
    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Related
    ENSP00000381095.3, ENST00000398013.7
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  3. NM_001008894.2NP_001008894.1  magnesium transporter NIPA2 isoform b

    See identical proteins and their annotated locations for NP_001008894.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 4 and 6 encode the same isoform (b).
    Source sequence(s)
    AC011767, AK300843, DA082125, R56244, U90904
    Consensus CDS
    CCDS73694.1
    UniProtKB/Swiss-Prot
    Q8N8Q9
    Related
    ENSP00000437746.2, ENST00000539711.2
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  4. NM_001184888.1NP_001171817.1  magnesium transporter NIPA2 isoform b

    See identical proteins and their annotated locations for NP_001171817.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and lacks an in-frame exon in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a. Both variants 4 and 6 encode the same isoform (b).
    Source sequence(s)
    AC011767, AK313584, DA082125, R56244, U90904
    Consensus CDS
    CCDS73694.1
    UniProtKB/Swiss-Prot
    Q8N8Q9
    Related
    ENSP00000352762.4, ENST00000359727.8
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  5. NM_001184889.1NP_001171818.1  magnesium transporter NIPA2 isoform a

    See identical proteins and their annotated locations for NP_001171818.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3 and 4 encode the same isoform (a).
    Source sequence(s)
    AC011767, AY732242, DA082125, R56244, U90904
    Consensus CDS
    CCDS73693.1
    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  6. NM_030922.6NP_112184.4  magnesium transporter NIPA2 isoform a

    See identical proteins and their annotated locations for NP_112184.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a). Variants 1, 2, 3 and 4 encode the same isoform (a).
    Source sequence(s)
    AC011767, BC000957, BM544162, DA082125, R56244, U90904
    Consensus CDS
    CCDS73693.1
    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Related
    ENSP00000337618.3, ENST00000337451.7
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    22838641..22868384
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017022653.2XP_016878142.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  2. XM_017022657.1XP_016878146.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  3. XM_011543879.3XP_011542181.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_011542181.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  4. XM_017022659.1XP_016878148.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  5. XM_017022650.2XP_016878139.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  6. XM_017022655.1XP_016878144.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Related
    ENSP00000381096.3, ENST00000398014.7
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  7. XM_017022661.1XP_016878150.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  8. XM_017022646.1XP_016878135.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  9. XM_006720364.2XP_006720427.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_006720427.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  10. XM_005272547.4XP_005272604.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_005272604.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  11. XM_017022656.1XP_016878145.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  12. XM_017022663.1XP_016878152.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  13. XM_017022658.1XP_016878147.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  14. XM_017022652.2XP_016878141.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  15. XM_005272553.5XP_005272610.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_005272610.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  16. XM_006720366.4XP_006720429.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_006720429.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  17. XM_017022654.2XP_016878143.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  18. XM_017022648.1XP_016878137.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  19. XM_017022647.1XP_016878136.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  20. XM_024450083.1XP_024305851.1  magnesium transporter NIPA2 isoform X1

    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  21. XM_005272548.3XP_005272605.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_005272605.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Related
    ENSP00000501408.1, ENST00000674173.1
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  22. XM_006720365.3XP_006720428.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_006720428.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  23. XM_017022651.2XP_016878140.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  24. XM_017022649.2XP_016878138.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  25. XM_011543878.3XP_011542180.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_011542180.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  26. XM_006720367.1XP_006720430.1  magnesium transporter NIPA2 isoform X2

    See identical proteins and their annotated locations for XP_006720430.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  27. XM_011543880.3XP_011542182.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_011542182.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  28. XM_017022660.1XP_016878149.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  29. XM_017022645.1XP_016878134.1  magnesium transporter NIPA2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  30. XM_011543877.2XP_011542179.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_011542179.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  31. XM_005272546.3XP_005272603.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_005272603.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  32. XM_005272552.4XP_005272609.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_005272609.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Related
    ENSP00000501373.1, ENST00000674330.1
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA
  33. XM_017022662.1XP_016878151.1  magnesium transporter NIPA2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N8Q9
    Conserved Domains (1) summary
    pfam05653
    Location:8283
    Mg_trans_NIPA; Magnesium transporter NIPA
  34. XM_005272550.3XP_005272607.1  magnesium transporter NIPA2 isoform X1

    See identical proteins and their annotated locations for XP_005272607.1

    UniProtKB/Swiss-Prot
    Q8N8Q9
    UniProtKB/TrEMBL
    A0A024R372
    Conserved Domains (1) summary
    pfam05653
    Location:8302
    Mg_trans_NIPA; Magnesium transporter NIPA

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_021160017.1 Reference GRCh38.p13 PATCHES

    Range
    3732706..3762464
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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