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NIPA2

gene
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Also known as SLC57A2

Summary

NIPA2 (NIPA magnesium transporter 2, HGNC:17044) is a protein-coding gene on chromosome 15q11.2, encoding Magnesium transporter NIPA2 (Q8N8Q9). Acts as a selective Mg(2+) transporter.

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.

Source: NCBI Gene 81614 — RefSeq curated summary.

At a glance

  • GWAS associations: 2
  • Clinical variants (ClinVar): 100 total — 1 likely-pathogenic
  • Phenotypes (HPO): 31
  • Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
  • MANE Select transcript: NM_030922

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:17044
Approved symbolNIPA2
NameNIPA magnesium transporter 2
Location15q11.2
Locus typegene with protein product
StatusApproved
AliasesSLC57A2
Ensembl geneENSG00000140157
Ensembl biotypeprotein_coding
OMIM608146
Entrez81614

Gene structure

Transcript identifiers

Ensembl transcripts: 145 — 140 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000337451, ENST00000359727, ENST00000398013, ENST00000398014, ENST00000539711, ENST00000559571, ENST00000560039, ENST00000560205, ENST00000560762, ENST00000561072, ENST00000674173, ENST00000674215, ENST00000674227, ENST00000674289, ENST00000674330, ENST00000674477, ENST00000909530, ENST00000909531, ENST00000909532, ENST00000909533, ENST00000909534, ENST00000909535, ENST00000909536, ENST00000909537, ENST00000909538, ENST00000909539, ENST00000909540, ENST00000909541, ENST00000909542, ENST00000909543, ENST00000909544, ENST00000909545, ENST00000909546, ENST00000909547, ENST00000909548, ENST00000909549, ENST00000909550, ENST00000909551, ENST00000909552, ENST00000909553, ENST00000909554, ENST00000909555, ENST00000909556, ENST00000909557, ENST00000909558, ENST00000909559, ENST00000909560, ENST00000909561, ENST00000909562, ENST00000909563, ENST00000909564, ENST00000909565, ENST00000909566, ENST00000909567, ENST00000909568, ENST00000909569, ENST00000909570, ENST00000909571, ENST00000909572, ENST00000909573, ENST00000909574, ENST00000909575, ENST00000909576, ENST00000909577, ENST00000909578, ENST00000909579, ENST00000909580, ENST00000909581, ENST00000909582, ENST00000909583, ENST00000909584, ENST00000909585, ENST00000909586, ENST00000909587, ENST00000909588, ENST00000909589, ENST00000909590, ENST00000909591, ENST00000909592, ENST00000909593, ENST00000909594, ENST00000909595, ENST00000914729, ENST00000914730, ENST00000914731, ENST00000914732, ENST00000914733, ENST00000914734, ENST00000914735, ENST00000914736, ENST00000914737, ENST00000914738, ENST00000914739, ENST00000914740, ENST00000914741, ENST00000914742, ENST00000914743, ENST00000914744, ENST00000914745, ENST00000914746, ENST00000914747, ENST00000942174, ENST00000942175, ENST00000942176, ENST00000942177, ENST00000942178, ENST00000942179, ENST00000942180, ENST00000942181, ENST00000942182, ENST00000942183, ENST00000942184, ENST00000942185, ENST00000942186, ENST00000942187, ENST00000942188, ENST00000942189, ENST00000942190, ENST00000942191, ENST00000942192, ENST00000942193, ENST00000942194, ENST00000942195, ENST00000942196, ENST00000942197, ENST00000942198, ENST00000942199, ENST00000942200, ENST00000942201, ENST00000942202, ENST00000942203, ENST00000942204, ENST00000942205, ENST00000942206, ENST00000942207, ENST00000942208, ENST00000942209, ENST00000942210, ENST00000942211, ENST00000942212, ENST00000942213, ENST00000942214, ENST00000942215, ENST00000942216, ENST00000942217

RefSeq mRNA: 6 — MANE Select: NM_030922 NM_001008860, NM_001008892, NM_001008894, NM_001184888, NM_001184889, NM_030922

CCDS: CCDS73693, CCDS73694

Canonical transcript exons

ENST00000337451 — 8 exons

ExonStartEnd
ENSE000009415492285854022858630
ENSE000009415502286062922860789
ENSE000010972202285321222853268
ENSE000010972232285163922851870
ENSE000013632142283965522839790
ENSE000014944862284514622845267
ENSE000019439662286621322868384
ENSE000039156902283866622838921

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 97.84.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 47.7552 / max 443.1959, expressed in 1824 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter IDTPM avgSamples expressed
14545246.40981824
1454530.9153514
1454540.191475
1454560.150839
1454550.087923

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
pancreatic ductal cellCL:000207997.84gold quality
colonic mucosaUBERON:000031796.85gold quality
mucosa of sigmoid colonUBERON:000499396.81gold quality
secondary oocyteCL:000065595.42gold quality
ileal mucosaUBERON:000033194.38gold quality
nasal cavity epitheliumUBERON:000538494.26gold quality
rectumUBERON:000105294.10gold quality
heart right ventricleUBERON:000208094.01gold quality
epithelial cell of pancreasCL:000008393.93gold quality
adrenal tissueUBERON:001830393.85gold quality
islet of LangerhansUBERON:000000693.61gold quality
duodenumUBERON:000211493.59gold quality
epithelium of nasopharynxUBERON:000195193.51gold quality
jejunal mucosaUBERON:000039993.38gold quality
monocyteCL:000057693.18gold quality
mononuclear cellCL:000084293.17gold quality
visceral pleuraUBERON:000240193.15gold quality
leukocyteCL:000073893.14gold quality
oocyteCL:000002393.08gold quality
palpebral conjunctivaUBERON:000181293.06gold quality
nephron tubuleUBERON:000123193.02gold quality
esophagus squamous epitheliumUBERON:000692093.00gold quality
choroid plexus epitheliumUBERON:000391192.96gold quality
tibiaUBERON:000097992.83gold quality
vermiform appendixUBERON:000115492.78gold quality
mucosa of transverse colonUBERON:000499192.73gold quality
middle temporal gyrusUBERON:000277192.68gold quality
pleuraUBERON:000097792.62gold quality
Brodmann (1909) area 23UBERON:001355492.57gold quality
ganglionic eminenceUBERON:000402392.43gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

ExperimentMarker?Max mean expression
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

111 targeting NIPA2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-513A-5P100.0069.772465
HSA-MIR-4673100.0066.641490
HSA-MIR-4481100.0066.421669
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-453499.9966.581907
HSA-MIR-453199.9969.703181
HSA-MIR-806899.9873.852376
HSA-MIR-4645-5P99.9865.811284
HSA-MIR-314899.9775.066478
HSA-MIR-60799.9773.625593
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-365899.9673.874379
HSA-MIR-1250-3P99.9670.044038
HSA-MIR-548AA99.9670.643753
HSA-MIR-548AP-3P99.9670.643753
HSA-MIR-548T-3P99.9670.643753
HSA-MIR-495-3P99.9672.814197
HSA-MIR-568899.9673.234504
HSA-MIR-808299.9567.271170
HSA-MIR-548AB99.9571.313488
HSA-MIR-55999.9572.283609
HSA-MIR-144-3P99.9473.982698
HSA-MIR-548A-5P99.9471.273482
HSA-MIR-548AD-5P99.9471.233502
HSA-MIR-548AE-5P99.9471.233502
HSA-MIR-548AK99.9471.243488
HSA-MIR-548AM-5P99.9471.243488

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 6)

  • located in the genomic domain between break points 1 and 2 on chromosome 15, of the Prader-Willi/Angelman syndromes (PMID:14508708)
  • Altered mRNA expression is associated with prostate cancer recurrence. (PMID:15067324)
  • quantitated mRNA levels of NIPA2, NIPA2,l CYFIP1, and GCP5 in Prader-Willi syndrome and correlated levels with psychological and behavior scales (PMID:16982806)
  • mutations in NIPA2 gene were associated with childhood absence epilepsy (CAE), which indicated that the haploinsufficiency of NIPA2 might be a candidate mechanism underlying the IGE/CAE phenotypes caused by 15q11.2 microdeletions or rare mutations in NIPA2 (PMID:22367439)
  • This study primarily reveals that a selective magnesium transporter NIPA2 may play a role in the pathogenesis of CAE. (PMID:25347071)
  • AGEs dose-dependently down-regulated the expression of NIPA2 in osteoblasts. NIPA2 also regulated osteoblast apoptosis by affecting the intracellular magnesium level and further affecting the osteogenic capacity of osteoblasts. (PMID:31003774)

Cross-species orthologs

3 orthologs

OrganismSymbolGene ID
danio_rerionipa2ENSDARG00000055912
mus_musculusNipa2ENSMUSG00000030452
rattus_norvegicusNipa2ENSRNOG00000012690

Paralogs (5): NIPAL3 (ENSG00000001461), NIPAL2 (ENSG00000104361), NIPAL1 (ENSG00000163293), NIPA1 (ENSG00000170113), NIPAL4 (ENSG00000172548)

Protein

Protein identifiers

Magnesium transporter NIPA2 — Q8N8Q9 (reviewed: Q8N8Q9)

Alternative names: Non-imprinted in Prader-Willi/Angelman syndrome region protein 2

All UniProt accessions (3): Q8N8Q9, A0A6I8PUB5, H0YMQ7

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a selective Mg(2+) transporter.

Subcellular location. Cell membrane. Early endosome.

Tissue specificity. Widely expressed.

Similarity. Belongs to the NIPA family.

Isoforms (2)

UniProt IDNamesCanonical?
Q8N8Q9-11yes
Q8N8Q9-22

RefSeq proteins (6): NP_001008860, NP_001008892, NP_001008894, NP_001171817, NP_001171818, NP_112184* (*=MANE)

Domains & families (InterPro)

IDNameType
IPR008521Mg_trans_NIPAFamily
IPR037185EmrE-likeHomologous_superfamily

Pfam: PF05653

Catalyzed reactions (Rhea), 1 shown:

  • Mg(2+)(in) = Mg(2+)(out) (RHEA:29827)

UniProt features (25 total): topological domain 10, transmembrane region 9, sequence variant 3, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q8N8Q9-F182.520.59

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-5223345Miscellaneous transport and binding events

MSigDB gene sets: 173 (showing top): IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_MAGNESIUM_ION_TRANSPORT, BOHN_PRIMARY_IMMUNODEFICIENCY_SYNDROM_DN, chr15q11, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_TRANSMEMBRANE_TRANSPORT, YGCGYRCGC_UNKNOWN, GOMF_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MONOATOMIC_CATION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, TST1_01, GOMF_TRANSPORTER_ACTIVITY, LU_EZH2_TARGETS_DN, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, GOMF_MONOATOMIC_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOMF_MAGNESIUM_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY

GO Biological Process (3): magnesium ion transport (GO:0015693), monoatomic ion transport (GO:0006811), magnesium ion transmembrane transport (GO:1903830)

GO Molecular Function (1): magnesium ion transmembrane transporter activity (GO:0015095)

GO Cellular Component (4): early endosome (GO:0005769), plasma membrane (GO:0005886), membrane (GO:0016020), endosome (GO:0005768)

Reactome top-level categories

Rollup of top-1 pathways:

CategoryPathways
Transport of small molecules1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
metal ion transport1
transport1
magnesium ion transport1
monoatomic cation transmembrane transport1
metal ion transmembrane transporter activity1
magnesium ion transmembrane transport1
endosome1
membrane1
cell periphery1
cellular anatomical structure1
endomembrane system1
cytoplasmic vesicle1

Protein interactions and networks

STRING

606 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
NIPA2TUBGCP5Q96RT8991
NIPA2CYFIP1Q7L576973
NIPA2IGFBP2P18065915
NIPA2MAGT1Q9H0U3732
NIPA2ATP10AO60312615
NIPA2SLC41A1Q8IVJ1609
NIPA2PTP4A2Q12974597
NIPA2CNNM2Q9H8M5584
NIPA2MAGEL2Q9UJ55583
NIPA2MKRN3Q13064577
NIPA2GABRG3Q99928572
NIPA2NPAP1Q9NZP6571
NIPA2SNRPNP14648571
NIPA2CNNM3Q8NE01553
NIPA2TRPM6Q9BX84529

IntAct

11 interactions, top by confidence:

ABTypeScore
NIPAL1ESYT2psi-mi:“MI:0914”(association)0.640
YIPF3TMEM120Bpsi-mi:“MI:0914”(association)0.530
NIPA2HTR2Bpsi-mi:“MI:0915”(physical association)0.370
YIPF3TMEM223psi-mi:“MI:0914”(association)0.350
FPR2GPR89Apsi-mi:“MI:0914”(association)0.350
NIPA2SYNGR2psi-mi:“MI:0914”(association)0.350
YIPF3GPR89Apsi-mi:“MI:0914”(association)0.350
NIPA2ELP6psi-mi:“MI:0914”(association)0.350
SLC39A14ESYT2psi-mi:“MI:0914”(association)0.350

BioGRID (22): NIPA2 (Affinity Capture-MS), NIPA2 (Affinity Capture-MS), NIPA2 (Two-hybrid), NIPA2 (Affinity Capture-RNA), RBM12 (Affinity Capture-MS), NAA50 (Affinity Capture-MS), AK4 (Affinity Capture-MS), SBDS (Affinity Capture-MS), RMDN1 (Affinity Capture-MS), NIPA2 (Affinity Capture-MS), SYNGR2 (Affinity Capture-MS), MCTS1 (Affinity Capture-MS), NIPA2 (Affinity Capture-MS), PNPO (Affinity Capture-MS), FAM50B (Affinity Capture-MS)

ESM2 similar proteins: A0NGI1, A7YW81, O74750, O94654, P40004, Q00974, Q02334, Q03730, Q04083, Q09875, Q0D2K0, Q0V9U2, Q10000, Q29Q28, Q3E6T0, Q3SWX0, Q54V96, Q54ZG7, Q550W6, Q55FV8, Q5R7Q3, Q5T1Q4, Q6CR04, Q6FSF8, Q7RTP0, Q7TML3, Q8BGK5, Q8BHK1, Q8BLX4, Q8BMW7, Q8BZF2, Q8IXU6, Q8MXJ9, Q8N8Q9, Q8R1E7, Q8WY98, Q94EI9, Q968A5, Q9C8M1, Q9JJC8

Diamond homologs: B3LFA3, F4JKQ7, Q0D2K0, Q3SWX0, Q5A5P7, Q5R7Q3, Q5RDB8, Q6NVV3, Q7RTP0, Q8BHK1, Q8BMW7, Q8BZF2, Q8GWX2, Q8GYS1, Q8N8Q9, Q94AH3, Q9H841, Q9JJC8, Q9LIR9, Q9LNK7, Q91WC7, Q5RD30, Q6P499, Q8BGN5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

100 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic0
Likely pathogenic1
Uncertain significance52
Likely benign11
Benign25

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
374448NM_030922.7(NIPA2):c.731A>G (p.Asn244Ser)Likely pathogenic

SpliceAI

1505 predictions. Top by Δscore:

VariantEffectΔscore
15:22839142:A:ACdonor_gain1.0000
15:22839789:C:CCdonor_gain1.0000
15:22839790:A:ACdonor_gain1.0000
15:22851807:T:TAdonor_gain1.0000
15:22851850:T:Adonor_gain1.0000
15:22858522:C:CTacceptor_gain1.0000
15:22858524:A:Tacceptor_gain1.0000
15:22858525:C:CTacceptor_gain1.0000
15:22858528:A:Tacceptor_gain1.0000
15:22858529:C:CTacceptor_gain1.0000
15:22858536:T:Cacceptor_gain1.0000
15:22858536:T:TCacceptor_gain1.0000
15:22858537:C:Aacceptor_loss1.0000
15:22858537:C:CCacceptor_gain1.0000
15:22858538:ACT:Aacceptor_loss1.0000
15:22858539:CA:Cacceptor_gain1.0000
15:22858539:CACT:Cacceptor_gain1.0000
15:22858540:CCA:Cacceptor_gain1.0000
15:22858540:CCAC:Cacceptor_gain1.0000
15:22858541:CCCA:Cacceptor_gain1.0000
15:22858629:C:Gdonor_loss1.0000
15:22858629:CCTTA:Cdonor_gain1.0000
15:22858630:A:AGdonor_loss1.0000
15:22858631:TACC:Tdonor_loss1.0000
15:22858632:TTACC:Tdonor_loss1.0000
15:22858633:CTTA:Cdonor_loss1.0000
15:22858634:CCTTA:Cdonor_loss1.0000
15:22860626:C:CCacceptor_gain1.0000
15:22860628:CA:Cacceptor_gain1.0000
15:22860630:GGCA:Gacceptor_gain1.0000

AlphaMissense

2344 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
15:22853247:T:AW59R1.000
15:22853247:T:CW59R1.000
15:22853257:G:AG62E1.000
15:22858549:G:AG69D1.000
15:22858608:G:AG89R1.000
15:22858608:G:CG89R1.000
15:22858617:A:CS92R1.000
15:22858619:C:AS92R1.000
15:22858619:C:GS92R1.000
15:22860684:G:AG115R1.000
15:22860684:G:CG115R1.000
15:22860684:G:TG115W1.000
15:22860685:G:AG115E1.000
15:22860705:G:AG122R1.000
15:22860705:G:CG122R1.000
15:22860706:G:AG122E1.000
15:22866638:G:AG292R1.000
15:22866638:G:CG292R1.000
15:22866638:G:TG292W1.000
15:22866639:G:AG292E1.000
15:22851792:A:CS21R0.999
15:22851794:C:AS21R0.999
15:22851794:C:GS21R0.999
15:22851804:G:AG25R0.999
15:22851804:G:CG25R0.999
15:22851805:G:AG25E0.999
15:22851810:A:CS27R0.999
15:22851812:T:AS27R0.999
15:22851812:T:GS27R0.999
15:22851813:T:CF28L0.999

dbSNP variants (sampled 300 via entrez): RS1000003835 (15:22864668 T>A), RS1000114619 (15:22844329 G>A), RS1000117723 (15:22852273 C>A), RS1000158020 (15:22859122 C>G,T), RS1000169247 (15:22855844 G>A), RS1000190168 (15:22844497 T>C), RS1000370745 (15:22840076 A>G), RS1000446820 (15:22843286 C>A,T), RS1000519629 (15:22843454 C>A,T), RS1000556750 (15:22836946 T>C,G), RS1000706006 (15:22844926 A>G), RS1000740603 (15:22839888 A>G), RS1000779547 (15:22845133 A>G,T), RS1000913979 (15:22865813 G>A), RS1000929330 (15:22853737 A>G)

Disease associations

OMIM: gene MIM:608146 | disease phenotypes: MIM:600363

GenCC curated gene-disease

Mondo (1): hereditary spastic paraplegia 6 (MONDO:0010878)

Orphanet (1): Autosomal dominant spastic paraplegia type 6 (Orphanet:100988)

HPO phenotypes

31 total (30 of 31 shown, HPO-id order):

HPOTerm
HP:0000174Abnormal palate morphology
HP:0000252Microcephaly
HP:0000337Broad forehead
HP:0000377Abnormal pinna morphology
HP:0000708Atypical behavior
HP:0000717Autism
HP:0000729Autistic behavior
HP:0000736Short attention span
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001251Ataxia
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
HP:0001680Coarctation of aorta
HP:0001999Abnormal facial shape
HP:0002172Postural instability
HP:0002198Dilated fourth ventricle
HP:0002311Incoordination
HP:0002354Memory impairment
HP:0005160Total anomalous pulmonary venous return
HP:0006891Thick cerebral cortex
HP:0007018Attention deficit hyperactivity disorder
HP:0010522Dyslexia
HP:0100716Self-injurious behavior
HP:0100753Schizophrenia

GWAS associations

2 associations (top):

StudyTraitp-value
GCST009615_16Triglyceride levels x loop diuretics use interaction4.000000e-07
GCST009615_17Triglyceride levels x loop diuretics use interaction3.000000e-06

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004530triglyceride measurement

MeSH disease descriptors (1)

DescriptorNameTree numbers
C536866Spastic paraplegia 6, autosomal dominant (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC57 NiPA-like magnesium transporter family

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects expression, increases expression3
Air Pollutantsaffects cotreatment, increases abundance, increases oxidation, decreases expression2
bisphenol Faffects cotreatment, increases methylation1
alpha-pineneaffects cotreatment, increases oxidation, increases abundance1
beta-lapachonedecreases expression1
methacrylaldehydeaffects cotreatment, increases oxidation, increases abundance1
di-n-butylphosphoric acidaffects expression1
Resveratrolaffects cotreatment, increases expression1
Fulvestrantaffects cotreatment, increases methylation1
Acroleinaffects cotreatment, increases oxidation, increases abundance1
Atrazinedecreases expression1
Benzo(a)pyreneincreases methylation1
Diazinonincreases methylation1
Ozoneaffects cotreatment, increases oxidation, increases abundance1
Plant Extractsincreases expression, affects cotreatment1
Smokedecreases expression1
Tobacco Smoke Pollutionincreases expression1
Aflatoxin B1increases methylation1
Antirheumatic Agentsdecreases expression1
Okadaic Acidincreases expression1
Acrylamideincreases expression1
Particulate Matterdecreases expression, increases abundance1
Volatile Organic Compoundsaffects cotreatment, increases oxidation1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D4H2HCT116-NIPA2-KO-c22Cancer cell lineMale
CVCL_D4H3HCT116-NIPA2-KO-c3Cancer cell lineMale

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hereditary spastic paraplegia 6

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Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

Generated
Atlas version
v1.1.2
BioBTree
v2.0.2

Sources 76

This page pulls from 76 datasets indexed by BioBTree:

alphafoldalphamissenseantibodybgeebgee_evidencebindingdbbiogrid_interactionbrendabrenda_kineticsccdscellosauruschembl_activitychembl_targetciviccivic_evidenceclingen_dosageclingen_gene_validityclinical_trialsclinvarcollectrictd_gene_interactiondbsnpdepmapdiamond_similarityefoensemblentrezesm2_similarityexonfantom5_genefantom5_promotergenccgenerifgogoparentgtopdbgtopdb_interactiongwasgwas_studyhgnchpointactinterprointogenjasparmeshmimmirdbmondomsigdborphanetorthologparalogpdbpfampharmgkb_clinicalpharmgkb_genepharmgkb_guidelinepharmgkb_variantpubchempubchem_activitypubchem_assaypubmedreactomereactomeparentrefseqrhearnacentralscxa_expressionscxa_gene_experimentsignorspliceaistring_interactiontranscriptufeatureuniprot