NIPA2_HUMAN
ID NIPA2_HUMAN Reviewed; 360 AA.
AC Q8N8Q9; F8W7Y8; Q96F03; Q9BVS2;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 140.
DE RecName: Full=Magnesium transporter NIPA2;
DE AltName: Full=Non-imprinted in Prader-Willi/Angelman syndrome region protein 2;
GN Name=NIPA2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=14508708; DOI=10.1086/378816;
RA Chai J.-H., Locke D.P., Greally J.M., Knoll J.H.M., Ohta T., Dunai J.,
RA Yavor A., Eichler E.E., Nicholls R.D.;
RT "Identification of four highly conserved genes between breakpoint hotspots
RT BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that
RT have undergone evolutionary transposition mediated by flanking duplicons.";
RL Am. J. Hum. Genet. 73:898-925(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Jiang Y.-H., Beaudet A.L.;
RT "Non-imprinted transcript from the Prader-Willi syndrome region.";
RL Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Small intestine;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=B-cell;
RA Li W.B., Gruber C., Jessee J., Polayes D.;
RT "Full-length cDNA libraries and normalization.";
RL Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Pancreas, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Acts as a selective Mg(2+) transporter. {ECO:0000250}.
CC -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Early endosome {ECO:0000250}. Note=Recruited to
CC the cell membrane in response to low extracellular magnesium.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N8Q9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N8Q9-2; Sequence=VSP_044587;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:14508708}.
CC -!- SIMILARITY: Belongs to the NIPA family. {ECO:0000305}.
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DR EMBL; BK001120; DAA01509.1; -; mRNA.
DR EMBL; AY732242; AAU34000.1; -; mRNA.
DR EMBL; AK096305; BAC04757.1; -; mRNA.
DR EMBL; AK300843; BAG62494.1; -; mRNA.
DR EMBL; CR606982; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC011767; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC000957; AAH00957.3; -; mRNA.
DR EMBL; BC011775; AAH11775.1; -; mRNA.
DR CCDS; CCDS73693.1; -. [Q8N8Q9-1]
DR CCDS; CCDS73694.1; -. [Q8N8Q9-2]
DR RefSeq; NP_001008860.1; NM_001008860.2. [Q8N8Q9-1]
DR RefSeq; NP_001008892.1; NM_001008892.2. [Q8N8Q9-1]
DR RefSeq; NP_001008894.1; NM_001008894.2. [Q8N8Q9-2]
DR RefSeq; NP_001171817.1; NM_001184888.1. [Q8N8Q9-2]
DR RefSeq; NP_001171818.1; NM_001184889.1. [Q8N8Q9-1]
DR RefSeq; NP_112184.4; NM_030922.6. [Q8N8Q9-1]
DR RefSeq; XP_005272603.1; XM_005272546.3. [Q8N8Q9-1]
DR RefSeq; XP_005272604.1; XM_005272547.4. [Q8N8Q9-1]
DR RefSeq; XP_005272605.1; XM_005272548.3. [Q8N8Q9-1]
DR RefSeq; XP_005272607.1; XM_005272550.3. [Q8N8Q9-1]
DR RefSeq; XP_005272609.1; XM_005272552.3. [Q8N8Q9-1]
DR RefSeq; XP_005272610.1; XM_005272553.4. [Q8N8Q9-1]
DR RefSeq; XP_006720427.1; XM_006720364.2. [Q8N8Q9-1]
DR RefSeq; XP_006720428.1; XM_006720365.2. [Q8N8Q9-1]
DR RefSeq; XP_006720429.1; XM_006720366.3. [Q8N8Q9-1]
DR RefSeq; XP_006720430.1; XM_006720367.1. [Q8N8Q9-2]
DR RefSeq; XP_011542179.1; XM_011543877.2. [Q8N8Q9-1]
DR RefSeq; XP_011542180.1; XM_011543878.2. [Q8N8Q9-1]
DR RefSeq; XP_011542181.1; XM_011543879.2. [Q8N8Q9-1]
DR RefSeq; XP_011542182.1; XM_011543880.2. [Q8N8Q9-1]
DR RefSeq; XP_016878134.1; XM_017022645.1. [Q8N8Q9-1]
DR RefSeq; XP_016878135.1; XM_017022646.1. [Q8N8Q9-1]
DR RefSeq; XP_016878136.1; XM_017022647.1. [Q8N8Q9-1]
DR RefSeq; XP_016878137.1; XM_017022648.1. [Q8N8Q9-1]
DR RefSeq; XP_016878138.1; XM_017022649.1. [Q8N8Q9-1]
DR RefSeq; XP_016878139.1; XM_017022650.1. [Q8N8Q9-1]
DR RefSeq; XP_016878140.1; XM_017022651.1. [Q8N8Q9-1]
DR RefSeq; XP_016878141.1; XM_017022652.1. [Q8N8Q9-1]
DR RefSeq; XP_016878142.1; XM_017022653.1. [Q8N8Q9-1]
DR RefSeq; XP_016878143.1; XM_017022654.1. [Q8N8Q9-1]
DR RefSeq; XP_016878144.1; XM_017022655.1. [Q8N8Q9-2]
DR RefSeq; XP_016878145.1; XM_017022656.1. [Q8N8Q9-2]
DR RefSeq; XP_016878146.1; XM_017022657.1. [Q8N8Q9-2]
DR RefSeq; XP_016878147.1; XM_017022658.1. [Q8N8Q9-2]
DR RefSeq; XP_016878148.1; XM_017022659.1. [Q8N8Q9-2]
DR RefSeq; XP_016878149.1; XM_017022660.1. [Q8N8Q9-2]
DR RefSeq; XP_016878150.1; XM_017022661.1. [Q8N8Q9-2]
DR RefSeq; XP_016878151.1; XM_017022662.1. [Q8N8Q9-2]
DR RefSeq; XP_016878152.1; XM_017022663.1. [Q8N8Q9-2]
DR AlphaFoldDB; Q8N8Q9; -.
DR BioGRID; 123549; 19.
DR IntAct; Q8N8Q9; 3.
DR MINT; Q8N8Q9; -.
DR STRING; 9606.ENSP00000337618; -.
DR TCDB; 2.A.7.25.2; the drug/metabolite transporter (dmt) superfamily.
DR iPTMnet; Q8N8Q9; -.
DR PhosphoSitePlus; Q8N8Q9; -.
DR BioMuta; NIPA2; -.
DR DMDM; 73921217; -.
DR EPD; Q8N8Q9; -.
DR jPOST; Q8N8Q9; -.
DR MassIVE; Q8N8Q9; -.
DR MaxQB; Q8N8Q9; -.
DR PaxDb; Q8N8Q9; -.
DR PeptideAtlas; Q8N8Q9; -.
DR PRIDE; Q8N8Q9; -.
DR ProteomicsDB; 30041; -.
DR ProteomicsDB; 72453; -. [Q8N8Q9-1]
DR Antibodypedia; 22214; 41 antibodies from 16 providers.
DR DNASU; 81614; -.
DR Ensembl; ENST00000337451.8; ENSP00000337618.3; ENSG00000140157.16. [Q8N8Q9-1]
DR Ensembl; ENST00000359727.8; ENSP00000352762.4; ENSG00000140157.16. [Q8N8Q9-2]
DR Ensembl; ENST00000398013.7; ENSP00000381095.3; ENSG00000140157.16. [Q8N8Q9-1]
DR Ensembl; ENST00000398014.7; ENSP00000381096.3; ENSG00000140157.16. [Q8N8Q9-2]
DR Ensembl; ENST00000539711.2; ENSP00000437746.2; ENSG00000140157.16. [Q8N8Q9-2]
DR Ensembl; ENST00000674173.1; ENSP00000501408.1; ENSG00000140157.16. [Q8N8Q9-1]
DR Ensembl; ENST00000674289.1; ENSP00000501412.1; ENSG00000140157.16. [Q8N8Q9-1]
DR Ensembl; ENST00000674330.1; ENSP00000501373.1; ENSG00000140157.16. [Q8N8Q9-1]
DR Ensembl; ENST00000674477.1; ENSP00000501489.1; ENSG00000140157.16. [Q8N8Q9-1]
DR GeneID; 81614; -.
DR KEGG; hsa:81614; -.
DR MANE-Select; ENST00000337451.8; ENSP00000337618.3; NM_030922.7; NP_112184.4.
DR UCSC; uc001yux.4; human. [Q8N8Q9-1]
DR CTD; 81614; -.
DR DisGeNET; 81614; -.
DR GeneCards; NIPA2; -.
DR HGNC; HGNC:17044; NIPA2.
DR HPA; ENSG00000140157; Low tissue specificity.
DR MIM; 608146; gene.
DR neXtProt; NX_Q8N8Q9; -.
DR OpenTargets; ENSG00000140157; -.
DR Orphanet; 261183; 15q11.2 microdeletion syndrome.
DR PharmGKB; PA134911294; -.
DR VEuPathDB; HostDB:ENSG00000140157; -.
DR eggNOG; KOG2922; Eukaryota.
DR GeneTree; ENSGT00940000155651; -.
DR HOGENOM; CLU_012349_1_1_1; -.
DR InParanoid; Q8N8Q9; -.
DR OMA; IWWAGMI; -.
DR PhylomeDB; Q8N8Q9; -.
DR TreeFam; TF313214; -.
DR PathwayCommons; Q8N8Q9; -.
DR Reactome; R-HSA-5223345; Miscellaneous transport and binding events.
DR SignaLink; Q8N8Q9; -.
DR BioGRID-ORCS; 81614; 12 hits in 1073 CRISPR screens.
DR ChiTaRS; NIPA2; human.
DR GeneWiki; NIPA2; -.
DR GenomeRNAi; 81614; -.
DR Pharos; Q8N8Q9; Tbio.
DR PRO; PR:Q8N8Q9; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q8N8Q9; protein.
DR Bgee; ENSG00000140157; Expressed in pancreatic ductal cell and 202 other tissues.
DR ExpressionAtlas; Q8N8Q9; baseline and differential.
DR Genevisible; Q8N8Q9; HS.
DR GO; GO:0005769; C:early endosome; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; IBA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0015095; F:magnesium ion transmembrane transporter activity; IEA:InterPro.
DR GO; GO:0015693; P:magnesium ion transport; IBA:GO_Central.
DR InterPro; IPR008521; Mg_trans_NIPA.
DR PANTHER; PTHR12570; PTHR12570; 1.
DR Pfam; PF05653; Mg_trans_NIPA; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cell membrane; Endosome; Ion transport; Magnesium;
KW Membrane; Reference proteome; Transmembrane; Transmembrane helix;
KW Transport.
FT CHAIN 1..360
FT /note="Magnesium transporter NIPA2"
FT /id="PRO_0000191743"
FT TOPO_DOM 1..9
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 10..30
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 31..56
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 57..77
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 78
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 79..99
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 100..107
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 108..128
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 129..149
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 150..170
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 171..175
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 176..196
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 197..215
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 216..236
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 237..246
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 247..267
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 268..278
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 279..299
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 300..360
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT VAR_SEQ 47..66
FT /note="GQGGHAYLKEWLWWAGLLSM -> V (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044587"
FT CONFLICT 303
FT /note="S -> G (in Ref. 2; AAU34000 and 6; AAH11775)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 360 AA; 39185 MW; A8ED640DA7AF7F4B CRC64;
MSQGRGKYDF YIGLGLAMSS SIFIGGSFIL KKKGLLRLAR KGSMRAGQGG HAYLKEWLWW
AGLLSMGAGE VANFAAYAFA PATLVTPLGA LSVLVSAILS SYFLNERLNL HGKIGCLLSI
LGSTVMVIHA PKEEEIETLN EMSHKLGDPG FVVFATLVVI VALILIFVVG PRHGQTNILV
YITICSVIGA FSVSCVKGLG IAIKELFAGK PVLRHPLAWI LLLSLIVCVS TQINYLNRAL
DIFNTSIVTP IYYVFFTTSV LTCSAILFKE WQDMPVDDVI GTLSGFFTII VGIFLLHAFK
DVSFSLASLP VSFRKDEKAM NGNLSNMYEV LNNNEESLTC GIEQHTGENV SRRNGNLTAF
