NIPSNAP2

Summary

NIPSNAP2 (nipsnap homolog 2, HGNC:4179) is a protein-coding gene on chromosome 7p11.2, encoding Protein NipSnap homolog 2 (O75323). Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria.

This gene encodes a member of the NipSnap family of proteins that may be involved in vesicular transport. The encoded protein is localized to mitochondria and plays a role in oxidative phosphorylation. A pseudogene of this gene is located on the long arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 2631 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 70 total
• MANE Select transcript: NM_001483

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4179
Approved symbol	NIPSNAP2
Name	nipsnap homolog 2
Location	7p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000146729
Ensembl biotype	protein_coding
OMIM	603004
Entrez	2631

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 14 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000322090, ENST00000415967, ENST00000437587, ENST00000446692, ENST00000446778, ENST00000456204, ENST00000464772, ENST00000470036, ENST00000472404, ENST00000487370, ENST00000497279, ENST00000878200, ENST00000878201, ENST00000878202, ENST00000878203, ENST00000878204, ENST00000878205, ENST00000878206, ENST00000878207, ENST00000942464, ENST00000942465

RefSeq mRNA: 2 — MANE Select: NM_001483 NM_001202469, NM_001483

CCDS: CCDS5521, CCDS56488

Canonical transcript exons

ENST00000322090 — 10 exons

Exon	Start	End
ENSE00003463226	55982210	55982280
ENSE00003473689	55978126	55978265
ENSE00003567758	55997366	55997449
ENSE00003569823	55978350	55978395
ENSE00003600824	55983728	55983868
ENSE00003653217	55981473	55981567
ENSE00003690724	55994894	55994988
ENSE00003694101	55984847	55984878
ENSE00003842344	55964585	55964701
ENSE00003843507	55999008	56000179

Expression profiles

Bgee: expression breadth ubiquitous, 291 present calls, max score 99.64.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 54.6305 / max 1009.6659, expressed in 1822 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
78765	53.2139	1821
78767	1.1669	622
78766	0.2496	82

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	99.64	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.57	gold quality
vastus lateralis	UBERON:0001379	99.47	gold quality
quadriceps femoris	UBERON:0001377	99.38	gold quality
heart right ventricle	UBERON:0002080	99.37	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.32	gold quality
diaphragm	UBERON:0001103	99.12	gold quality
skeletal muscle tissue	UBERON:0001134	99.08	gold quality
muscle organ	UBERON:0001630	99.04	gold quality
gastrocnemius	UBERON:0001388	99.02	gold quality
deltoid	UBERON:0001476	98.96	gold quality
muscle of leg	UBERON:0001383	98.95	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.94	gold quality
triceps brachii	UBERON:0001509	98.82	gold quality
body of tongue	UBERON:0011876	98.79	gold quality
myocardium	UBERON:0002349	98.64	gold quality
muscle tissue	UBERON:0002385	98.63	gold quality
gluteal muscle	UBERON:0002000	98.52	gold quality
tibialis anterior	UBERON:0001385	98.32	gold quality
left ventricle myocardium	UBERON:0006566	98.32	gold quality
bronchial epithelial cell	CL:0002328	98.16	gold quality
cardiac ventricle	UBERON:0002082	98.15	gold quality
heart left ventricle	UBERON:0002084	98.13	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.04	gold quality
cardiac atrium	UBERON:0002081	97.81	gold quality
right atrium auricular region	UBERON:0006631	97.78	gold quality
apex of heart	UBERON:0002098	97.46	gold quality
heart	UBERON:0000948	97.41	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.71	gold quality
pigmented layer of retina	UBERON:0001782	96.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	14.34

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR2

miRNA regulators (miRDB)

66 targeting NIPSNAP2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-132-3P	99.73	70.56	1424
HSA-MIR-212-3P	99.73	70.65	1424
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-1290	99.59	69.90	2079
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-7159-3P	99.51	70.17	1920

Literature-anchored findings (GeneRIF, showing 7)

• CHCHD10 and GBAS are involved in oxidative phosphorylation. (PMID:20888800)
• GBAS mutations could not explain phenotype of patients with combined oxidative phosphorylation system deficiencies. (PMID:24137763)
• identified mitochondrial proteins 4-nitrophenylphosphatase domain and non-neuronal synaptosomal associated protein 25-like protein homolog (NIP-SNAP)-1 and -2 as clarithromycin-binding proteins. Production of proinflammatory cytokines induced by lipopolysaccharides and Pam3-CSK4 in epithelial cell lines BEAS-2B and T24 were suppressed by knockdown of NIP-SNAP-1 or -2 (PMID:27998764)
• NIP-SNAP-1 and -2 localized in the mitochondrial inner membrane space, whereas HSP60 localized in the matrix. Expression levels of NIP-SNAP-1 and -2 in cells were decreased by knockdown of HSP60, but not HSP10. The findings indicate that HSP60 promotes folding and maintains the stability of NIP-SNAP-1 and -2. (PMID:28011268)
• Results show that the rs9642391C>G variant, which is located in the intron region of EGFR, is associated with GBAS expression and survival outcomes in surgically resected early-stage non-small cell lung cancer patients. (PMID:29806744)
• NIPSNAP1 and NIPSNAP2 have a redundant function in mitophagy and are predominantly expressed in different tissues. (PMID:30982665)
• Knockdown of GBAS regulates esophageal cancer cell viability and apoptosis. (PMID:34036378)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nipsnap2	ENSDARG00000007264
mus_musculus	Nipsnap2	ENSMUSG00000029432
rattus_norvegicus	Nipsnap2	ENSRNOG00000023919
drosophila_melanogaster	Nipsnap	FBGN0030724
caenorhabditis_elegans		WBGENE00019301

Paralogs (3): NIPSNAP3A (ENSG00000136783), NIPSNAP3B (ENSG00000165028), NIPSNAP1 (ENSG00000184117)

Protein

Protein identifiers

Protein NipSnap homolog 2 — O75323 (reviewed: O75323)

Alternative names: Glioblastoma-amplified sequence

All UniProt accessions (5): O75323, C9J7B1, C9K068, F8WBI5, H7C333

UniProt curated annotations — full annotation on UniProt →

Function. Protein involved in mitophagy by facilitating recruitment of the autophagy machinery required for clearance of damaged mitochondria. Accumulates on the mitochondria surface in response to mitochondrial depolarization and acts as a ’eat me’ signal by recruiting proteins involved in selective autophagy, such as autophagy receptors (CALCOCO2/NDP52, NBR1, SQSTM1/p62, TAX1BP1 and WDFY3/ALFY) and ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2).

Subunit / interactions. Interacts with CALCOCO2/NDP52, NBR1, SQSTM1/p62, TAX1BP1 and WDFY3/ALFY. Interacts with ATG8 family proteins (MAP1LC3A, MAP1LC3B, MAP1LC3C, GABARAP, GABARAPL1 and GABARAPL2). Interacts with VDAC1.

Subcellular location. Mitochondrion matrix.

Tissue specificity. Widely expressed. Most abundant in heart and skeletal muscle.

Similarity. Belongs to the NipSnap family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75323-1	1	yes
O75323-2	2

RefSeq proteins (2): NP_001189398, NP_001474* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011008	Dimeric_a/b-barrel	Homologous_superfamily
IPR012577	NIPSNAP	Domain
IPR051557	NipSnap_domain	Family

Pfam: PF07978

UniProt features (4 total): transit peptide 1, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75323-F1	84.14	0.73

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-9013407	RHOH GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle

MSigDB gene sets: 160 (showing top): GOBP_POSITIVE_REGULATION_OF_CATION_CHANNEL_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_TRANSPORTER_ACTIVITY, GOBP_REGULATION_OF_VOLTAGE_GATED_CALCIUM_CHANNEL_ACTIVITY, TGACCTY_ERR1_Q2, GOBP_POSITIVE_REGULATION_OF_TRANSMEMBRANE_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_MACROAUTOPHAGY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_POSITIVE_REGULATION_OF_MONOATOMIC_ION_TRANSPORT, GENTILE_UV_HIGH_DOSE_DN, GOCC_MITOCHONDRIAL_ENVELOPE, SCHLOSSER_SERUM_RESPONSE_DN, GOBP_POSITIVE_REGULATION_OF_TRANSPORT, GOBP_REGULATION_OF_TRANSPORT

GO Biological Process (4): mitophagy (GO:0000423), mitochondrion organization (GO:0007005), positive regulation of high voltage-gated calcium channel activity (GO:1901843), autophagy (GO:0006914)

GO Molecular Function (2): protein-macromolecule adaptor activity (GO:0030674), protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), mitochondrial matrix (GO:0005759)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
RHO GTPase cycle	2

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
autophagy of mitochondrion	1
macroautophagy	1
organelle organization	1
high voltage-gated calcium channel activity	1
positive regulation of voltage-gated calcium channel activity	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
protein binding	1
molecular adaptor activity	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
mitochondrion	1
intracellular organelle lumen	1

Protein interactions and networks

STRING

1408 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NIPSNAP2	GABARAPL2	P60520	744
NIPSNAP2	F5GZY7	F5GZY7	738
NIPSNAP2	TAX1BP1	Q86VP1	665
NIPSNAP2	CALCOCO2	Q13137	663
NIPSNAP2	NBR1	Q14596	647
NIPSNAP2	FUNDC1	Q8IVP5	595
NIPSNAP2	BNIP3L	O60238	589
NIPSNAP2	GABARAP	O95166	585
NIPSNAP2	SQSTM1	Q13501	579
NIPSNAP2	ZNF713	Q8N859	573
NIPSNAP2	SUMF2	Q8NBJ7	562
NIPSNAP2	ALDH16A1	Q8IZ83	561
NIPSNAP2	PINK1	Q9BXM7	550
NIPSNAP2	EGFR	P00533	534
NIPSNAP2	BNIP3	Q12983	521

IntAct

97 interactions, top by confidence:

A	B	Type	Score
PRKCZ	NIPSNAP2	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
NIPSNAP2	GABARAPL2	psi-mi:“MI:0407”(direct interaction)	0.700
GABARAPL2	NIPSNAP2	psi-mi:“MI:0915”(physical association)	0.700
GABARAPL2	IPO5	psi-mi:“MI:0914”(association)	0.690
KLHL22	TMEM223	psi-mi:“MI:0914”(association)	0.640
NIPSNAP2	HSPD1	psi-mi:“MI:0914”(association)	0.610
NIPSNAP2	GABARAPL1	psi-mi:“MI:0407”(direct interaction)	0.590
GABARAPL1	NIPSNAP2	psi-mi:“MI:0915”(physical association)	0.590
GABARAPL1	IPO5	psi-mi:“MI:0914”(association)	0.590
GABARAP	IPO5	psi-mi:“MI:0914”(association)	0.590
NIPSNAP2	MAP1LC3C	psi-mi:“MI:0407”(direct interaction)	0.540
MAP1LC3C	NIPSNAP2	psi-mi:“MI:0915”(physical association)	0.540
PRKCI	NIPSNAP2	psi-mi:“MI:0914”(association)	0.530
PRKCZ	IPO5	psi-mi:“MI:0914”(association)	0.530
EBNA-LP	HAX1	psi-mi:“MI:0914”(association)	0.530
NIPSNAP2	GABARAP	psi-mi:“MI:0407”(direct interaction)	0.520
NIPSNAP2	MAP1LC3B	psi-mi:“MI:0407”(direct interaction)	0.520
MAP1LC3B	NIPSNAP2	psi-mi:“MI:0914”(association)	0.520
CDH1	ACTN4	psi-mi:“MI:0914”(association)	0.500
PYROXD1	NIPSNAP2	psi-mi:“MI:0915”(physical association)	0.400
Prkci	LLGL2	psi-mi:“MI:0914”(association)	0.350
JUN	TPM3	psi-mi:“MI:0914”(association)	0.350
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350

BioGRID (307): GBAS (Affinity Capture-RNA), GBAS (Affinity Capture-RNA), GBAS (Affinity Capture-MS), GBAS (Affinity Capture-MS), GBAS (Affinity Capture-MS), GBAS (Affinity Capture-MS), GBAS (Proximity Label-MS), GBAS (Proximity Label-MS), GBAS (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), NIPSNAP1 (Affinity Capture-MS), WBP11 (Affinity Capture-MS), SF3B5 (Affinity Capture-MS), GBAS (Affinity Capture-MS), GBAS (Affinity Capture-MS)

ESM2 similar proteins: A0A063C1W0, A0A2I1C3W7, A0A5B8YU67, A2BGU9, B3P9N0, B4I9J6, B4PY69, B4R313, B8DH02, B9DKR5, B9FK36, C1KX66, E1ACR2, F4I1L3, F6NVH9, I1RVD6, O46084, O55125, O55126, O75323, P27680, P34492, P91929, Q09422, Q16KN5, Q19000, Q29JQ0, Q4WAZ2, Q502L2, Q54I58, Q562B5, Q5FWM4, Q61CA3, Q6C3P4, Q71XQ0, Q8BX10, Q8IQ70, Q8S6N5, Q8SYD0, Q8Y5F1

Diamond homologs: F6NVH9, O55125, O55126, O75323, P34492, Q9BPW8, Q9PU58, Q9VXK0, A6NDG6, D3ZDK7, P0DKC3, P0DKC4, P19881, P60487, Q00472, Q2T9S4, Q3ZBF9, Q5F4B1, Q6ZT62, Q8CHP8, Q8GWU0, Q8VD52, Q96GD0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 88 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Macroautophagy	8	15.4×	2e-05
Autophagy	5	12.4×	5e-03
KEAP1-NFE2L2 pathway	5	10.0×	9e-03

GO biological processes:

GO term	Partners	Fold	FDR
mitophagy	8	33.0×	4e-08
autophagosome maturation	7	31.9×	5e-07
autophagosome assembly	7	20.4×	1e-05
macroautophagy	5	15.6×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	50
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2367 predictions. Top by Δscore:

Variant	Effect	Δscore
7:55951929:AG:A	donor_loss	1.0000
7:55951932:T:A	donor_loss	1.0000
7:55953173:TTTCA:T	acceptor_loss	1.0000
7:55953174:TTCA:T	acceptor_loss	1.0000
7:55953174:TTCAG:T	acceptor_loss	1.0000
7:55953175:TCAGG:T	acceptor_loss	1.0000
7:55953176:CAGGT:C	acceptor_loss	1.0000
7:55953177:AGGTG:A	acceptor_loss	1.0000
7:55953178:G:T	acceptor_loss	1.0000
7:55953315:AAAG:A	donor_loss	1.0000
7:55953316:AAGG:A	donor_loss	1.0000
7:55953319:GT:G	donor_loss	1.0000
7:55953320:T:G	donor_loss	1.0000
7:55954905:ACAG:A	acceptor_loss	1.0000
7:55954906:CAGT:C	acceptor_loss	1.0000
7:55954907:A:AG	acceptor_gain	1.0000
7:55954907:A:T	acceptor_loss	1.0000
7:55954908:G:GC	acceptor_gain	1.0000
7:55954908:G:GG	acceptor_gain	1.0000
7:55954908:G:T	acceptor_loss	1.0000
7:55954908:GT:G	acceptor_gain	1.0000
7:55954908:GTA:G	acceptor_gain	1.0000
7:55954908:GTATT:G	acceptor_gain	1.0000
7:55978264:GT:G	donor_gain	1.0000
7:55978266:G:GG	donor_gain	1.0000
7:55981622:T:G	donor_gain	1.0000
7:55982203:A:AG	acceptor_gain	1.0000
7:55982209:G:GA	acceptor_gain	1.0000
7:55997364:A:G	acceptor_gain	1.0000
7:55951927:GGAG:G	donor_gain	0.9900

AlphaMissense

1876 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:55978359:T:A	V81D	1.000
7:55981528:G:T	G112W	1.000
7:55981529:G:A	G112E	1.000
7:55981534:T:A	W114R	1.000
7:55981534:T:C	W114R	1.000
7:55981562:A:C	Q123P	1.000
7:55982210:T:A	V125D	1.000
7:55982216:T:C	L127P	1.000
7:55982218:T:A	W128R	1.000
7:55982218:T:C	W128R	1.000
7:55983797:T:C	F172L	1.000
7:55983798:T:C	F172S	1.000
7:55983799:C:A	F172L	1.000
7:55983799:C:G	F172L	1.000
7:55983806:T:A	W175R	1.000
7:55983806:T:C	W175R	1.000
7:55983849:T:C	L189P	1.000
7:55983852:G:T	R190M	1.000
7:55983864:T:A	L194H	1.000
7:55983864:T:C	L194P	1.000
7:55984851:G:A	G197E	1.000
7:55984865:T:A	W202R	1.000
7:55984865:T:C	W202R	1.000
7:55984867:G:C	W202C	1.000
7:55984867:G:T	W202C	1.000
7:55984877:T:A	W206R	1.000
7:55984877:T:C	W206R	1.000
7:55994914:G:C	R213T	1.000
7:55994941:G:A	G222E	1.000
7:55994958:G:T	G228W	1.000

dbSNP variants (sampled 300 via entrez): RS1000064561 (7:55979511 G>A), RS1000083167 (7:55997225 T>C), RS1000116580 (7:55979881 A>C,G), RS1000144739 (7:55999561 T>C,G), RS1000175011 (7:55963324 C>G), RS1000226653 (7:55973464 T>G), RS1000303189 (7:55968586 C>G,T), RS1000333956 (7:55968340 G>A), RS1000512050 (7:55964506 C>A,T), RS1000598526 (7:55973717 C>T), RS1000621434 (7:55999873 A>G), RS1000652911 (7:55995568 G>A), RS1000728743 (7:55990109 C>T), RS1000761643 (7:55989786 T>G), RS1000862356 (7:55988829 CA>C)

Disease associations

OMIM: gene MIM:603004 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST006868_5	Type 2 diabetes	2.000000e-08
GCST007382_29	Plasma free amino acid levels (adjusted for twenty other PFAAs)	5.000000e-22
GCST007385_17	Plasma free amino acid levels	4.000000e-21
GCST007876_103	Estimated glomerular filtration rate	1.000000e-08
GCST011352_27	Alanine aminotransferase levels	3.000000e-08
GCST012251_16	Macular telangiectasia type 2	3.000000e-07
GCST012252_7	Macular telangiectasia type 2	6.000000e-09
GCST90002388_390	Lymphocyte count	1.000000e-15
GCST90002407_479	White blood cell count	9.000000e-12
GCST90013405_7	Liver enzyme levels (alanine transaminase)	4.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005134	amino acid measurement
EFO:0009774	serine measurement
EFO:1002009	macular telangiectasia type 2
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

35 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	6
sodium arsenite	decreases expression, affects cotreatment, increases abundance	3
cobaltous chloride	decreases expression	2
Cyclosporine	decreases expression	2
Cadmium Chloride	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
dicrotophos	decreases expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
periodate-oxidized adenosine	affects expression	1
aflatoxin B2	increases methylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
bisphenol AF	increases expression	1
Temozolomide	increases expression	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Fluorouracil	affects reaction, decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Manganese	increases abundance, affects cotreatment, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Sodium Dodecyl Sulfate	decreases expression	1
Thiram	decreases expression	1

Clinical trials (associated diseases)

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