SIDT2

Summary

SIDT2 (SID1 transmembrane family member 2, HGNC:24272) is a protein-coding gene on chromosome 11q23.3, encoding SID1 transmembrane family member 2 (Q8NBJ9). Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP-dependent manner, and degraded.

Predicted to enable several functions, including AP-1 adaptor complex binding activity; AP-2 adaptor complex binding activity; and RNA transmembrane transporter activity. Involved in RNA transport. Located in lysosomal membrane and plasma membrane.

Source: NCBI Gene 51092 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 131 total
• MANE Select transcript: NM_001040455

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24272
Approved symbol	SIDT2
Name	SID1 transmembrane family member 2
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	CGI-40
Ensembl gene	ENSG00000149577
Ensembl biotype	protein_coding
OMIM	617551
Entrez	51092

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 10 protein_coding, 8 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000278951, ENST00000324225, ENST00000431081, ENST00000524842, ENST00000524988, ENST00000525065, ENST00000525339, ENST00000525478, ENST00000526813, ENST00000527654, ENST00000528397, ENST00000529441, ENST00000529484, ENST00000530948, ENST00000531255, ENST00000531353, ENST00000532062, ENST00000532960, ENST00000628876, ENST00000872295

RefSeq mRNA: 1 — MANE Select: NM_001040455 NM_001040455

CCDS: CCDS31682

Canonical transcript exons

ENST00000324225 — 26 exons

Exon	Start	End
ENSE00000991473	117181416	117181537
ENSE00001562635	117178743	117179446
ENSE00001678826	117195802	117195915
ENSE00001690473	117193853	117193963
ENSE00002146108	117196004	117197442
ENSE00003491041	117193153	117193258
ENSE00003491940	117188708	117188826
ENSE00003516240	117189169	117189242
ENSE00003516594	117184074	117184139
ENSE00003522220	117182519	117182620
ENSE00003529247	117182723	117182806
ENSE00003532936	117181807	117181971
ENSE00003542347	117191878	117192014
ENSE00003545257	117187628	117187699
ENSE00003556302	117192820	117192866
ENSE00003556772	117183779	117183878
ENSE00003573483	117192254	117192362
ENSE00003609404	117189952	117190025
ENSE00003618637	117187378	117187449
ENSE00003622465	117186584	117186636
ENSE00003637843	117190623	117190740
ENSE00003641297	117182060	117182105
ENSE00003653755	117190166	117190289
ENSE00003662127	117192574	117192650
ENSE00003669729	117189335	117189401
ENSE00003785609	117186130	117186223

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 99.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.2712 / max 330.1729, expressed in 1808 samples.

FANTOM5 promoters (16 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116866	15.2602	1786
116869	7.2501	1706
116871	1.3911	831
116868	1.1687	814
116867	1.1643	786
116873	0.8571	509
116874	0.6787	132
116872	0.4494	211
116865	0.4445	223
116870	0.1942	73

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	99.63	gold quality
parotid gland	UBERON:0001831	99.05	gold quality
tibia	UBERON:0000979	98.69	gold quality
pancreatic ductal cell	CL:0002079	97.91	gold quality
tendon of biceps brachii	UBERON:0008188	97.86	gold quality
jejunal mucosa	UBERON:0000399	97.76	gold quality
cervix squamous epithelium	UBERON:0006922	97.73	gold quality
visceral pleura	UBERON:0002401	97.69	gold quality
ileal mucosa	UBERON:0000331	97.64	gold quality
ileum	UBERON:0002116	97.53	silver quality
body of pancreas	UBERON:0001150	97.47	gold quality
parietal pleura	UBERON:0002400	97.34	gold quality
pleura	UBERON:0000977	97.28	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.90	gold quality
left ovary	UBERON:0002119	96.87	gold quality
body of stomach	UBERON:0001161	96.83	gold quality
inferior olivary complex	UBERON:0002127	96.44	gold quality
right ovary	UBERON:0002118	96.42	gold quality
granulocyte	CL:0000094	96.36	gold quality
fundus of stomach	UBERON:0001160	96.11	gold quality
duodenum	UBERON:0002114	96.09	gold quality
stomach	UBERON:0000945	95.98	gold quality
stromal cell of endometrium	CL:0002255	95.92	gold quality
middle temporal gyrus	UBERON:0002771	95.79	gold quality
medial globus pallidus	UBERON:0002477	95.77	gold quality
skin of hip	UBERON:0001554	95.49	gold quality
cardia of stomach	UBERON:0001162	95.45	gold quality
nerve	UBERON:0001021	95.31	gold quality
tibial nerve	UBERON:0001323	95.31	gold quality
prostate gland	UBERON:0002367	95.23	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.89
E-MTAB-6386	no	574.55

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

118 targeting SIDT2, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-424-5P	99.89	71.90	2641

Literature-anchored findings (GeneRIF, showing 15)

• SIDT2 (SID1 transmembrane family, member 2), an ortholog of the Caenorhabditis elegans putative RNA transporter SID-1 (systemic RNA interference deficient-1), mediates RNA translocation during RNautophagy. (PMID:27046251)
• SIDT2 (SID1 transmembrane family, member 2), an ortholog of the Caenorhabditis elegans putative RNA transporter SID-1 (systemic RNA interference defective-1), mediates RNA translocation during RNautophagy (PMID:27846365)
• Sidt2 is located on chromosome 11q23, a locus repeatedly found by chromosomal mapping of Alzheimer’s disease-related genes. (PMID:27987306)
• In silico analysis identified SIDT1 and SIDT2 sharing identity and conserved cholesterol binding (CRAC) domains with C. elegans ChUP-1. Further evidence indicate that SIDT1 and SIDT2 not only do not transport RNA, but they are involved in cholesterol transport. Single point mutations in the CRAC domains of both proteins prevent FRET between SIDT1, SIDT2 and dehydroergosterol and alter cholesterol transport. (PMID:28785058)
• We concluded that Sidt2 deficiency leads to muscular dystrophy-like phenotype in mice and Sidt2 plays a critical role in the late stage of autophagy. (PMID:29752955)
• this study found an association between metabolic syndrome and an intronic SNP pair, rs7107152 and rs1242229, in SIDT2 gene at 11q23.3. (PMID:30382898)
• The Variant rs1784042 of the SIDT2 Gene is Associated with Metabolic Syndrome through Low HDL-c Levels in a Mexican Population. (PMID:33066450)
• Genome-Wide Association Study Identifies a Functional SIDT2 Variant Associated With HDL-C (High-Density Lipoprotein Cholesterol) Levels and Premature Coronary Artery Disease. (PMID:34233476)
• [Lysosomal membrane protein Sidt2 deletion impairs autophagy in human hepatocytes]. (PMID:34549712)
• Long non-coding RNA LIFR-AS1 suppressed the proliferation, angiogenesis, migration and invasion of papillary thyroid cancer cells via the miR-31-5p/SIDT2 axis. (PMID:34781815)
• Pathology-associated change in levels and localization of SIDT2 in postmortem brains of Parkinson’s disease and dementia with Lewy bodies patients. (PMID:34800582)
• Interaction between SIDT2 and ABCA1 Variants with Nutrients on HDL-c Levels in Mexican Adults. (PMID:36678241)
• [Lysosomal membrane protein Sidt2 knockout induces apoptosis of human hepatocytes in vitro independent of the autophagy-lysosomal pathway]. (PMID:37202201)
• Structural insight into the human SID1 transmembrane family member 2 reveals its lipid hydrolytic activity. (PMID:37322007)
• SIDT2 Associates with Apolipoprotein A1 (ApoA1) and Facilitates ApoA1 Secretion in Hepatocytes. (PMID:37830567)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	sidt2	ENSDARG00000045976
mus_musculus	Sidt2	ENSMUSG00000034908
rattus_norvegicus	Sidt2	ENSRNOG00000017871
caenorhabditis_elegans		WBGENE00006477

Paralogs (1): SIDT1 (ENSG00000072858)

Protein

Protein identifiers

SID1 transmembrane family member 2 — Q8NBJ9 (reviewed: Q8NBJ9)

All UniProt accessions (8): Q8NBJ9, C9JBG5, E9PMC3, E9PME7, E9PPN9, F5H8L4, G3V172, H0YEI3

UniProt curated annotations — full annotation on UniProt →

Function. Mediates the translocation of RNA and DNA across the lysosomal membrane during RNA and DNA autophagy (RDA), a process in which RNA or DNA is directly imported into lysosomes in an ATP-dependent manner, and degraded. Involved in the uptake of single-stranded oligonucleotides by living cells, a process called gymnosis. In vitro, mediates the uptake of linear DNA more efficiently than that of circular DNA, but exhibits similar uptake efficacy toward RNA and DNA. Binds long double-stranded RNA (dsRNA) (500 - 700 base pairs), but not dsRNA shorter than 100 bp.

Subunit / interactions. Interacts with adapter protein complex 1 (AP-1) and AP-2, but not AP-3 and AP-4. Interacts with LAMP2.

Subcellular location. Lysosome membrane. Cell membrane.

Post-translational modifications. Glycosylated.

Similarity. Belongs to the SID1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NBJ9-1	1	yes
Q8NBJ9-2	2

RefSeq proteins (1): NP_001035545* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025958	SID1_TM_fam	Family

Pfam: PF13965

UniProt features (95 total): strand 26, helix 17, topological domain 11, transmembrane region 10, glycosylation site 10, turn 9, modified residue 3, sequence conflict 3, splice variant 2, sequence variant 2, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

7 structures.

PDB	Method	Resolution (Å)
7Y68	ELECTRON MICROSCOPY	2.87
7Y63	ELECTRON MICROSCOPY	3.16
8K10	ELECTRON MICROSCOPY	3.2
7Y69	ELECTRON MICROSCOPY	3.21
8J6O	ELECTRON MICROSCOPY	3.25
8K11	ELECTRON MICROSCOPY	3.3
8K12	ELECTRON MICROSCOPY	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NBJ9-F1	80.65	0.49

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 401, 403, 404

Glycosylation sites (10): 27, 54, 60, 123, 141, 165, 476, 496, 572, 603

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 257 (showing top): ATF_B, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOCC_VACUOLAR_MEMBRANE, GOBP_INSULIN_SECRETION, GOBP_CELLULAR_RESPONSE_TO_CARBOHYDRATE_STIMULUS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_TYPE_B_PANCREATIC_CELL_DEVELOPMENT, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_HORMONE_TRANSPORT, MODULE_182, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_CELL_CELL_SIGNALING

GO Biological Process (8): cell morphogenesis (GO:0000902), type B pancreatic cell development (GO:0003323), RNA catabolic process (GO:0006401), response to glucose (GO:0009749), glucose homeostasis (GO:0042593), type B pancreatic cell proliferation (GO:0044342), RNA transport (GO:0050658), regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)

GO Molecular Function (7): DNA binding (GO:0003677), double-stranded RNA binding (GO:0003725), AP-2 adaptor complex binding (GO:0035612), AP-1 adaptor complex binding (GO:0035650), nucleic acid transmembrane transporter activity (GO:0051032), RNA transmembrane transporter activity (GO:0051033), RNA binding (GO:0003723)

GO Cellular Component (4): lysosome (GO:0005764), lysosomal membrane (GO:0005765), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nucleic acid transport	2
nucleic acid binding	2
protein-containing complex binding	2
anatomical structure morphogenesis	1
epithelial cell development	1
type B pancreatic cell differentiation	1
RNA metabolic process	1
nucleic acid catabolic process	1
response to hexose	1
carbohydrate homeostasis	1
epithelial cell proliferation	1
establishment of RNA localization	1
insulin secretion involved in cellular response to glucose stimulus	1
regulation of insulin secretion	1
regulation of cellular localization	1
RNA binding	1
nucleobase-containing compound transmembrane transporter activity	1
macromolecule transmembrane transporter activity	1
RNA transport	1
nucleic acid transmembrane transporter activity	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SIDT2	PHACTR3	Q96KR7	436
SIDT2	DDX1	Q92499	425
SIDT2	ABHD4	Q8TB40	417
SIDT2	IFI16	Q16666	410
SIDT2	ZBP1	Q9H171	404
SIDT2	AIM2	O14862	398
SIDT2	MCOLN1	Q9GZU1	397
SIDT2	ZPR1	O75312	395
SIDT2	DUT	P33316	390
SIDT2	RO60	P10155	387
SIDT2	PEPD	P12955	382
SIDT2	PAFAH1B2	P68402	371
SIDT2	BUD13	Q9BRD0	369
SIDT2	SNRNP70	P08621	353
SIDT2	FAM117A	Q9C073	345
SIDT2	CERS2	Q96G23	345

IntAct

35 interactions, top by confidence:

A	B	Type	Score
ENTREP1	WWP2	psi-mi:“MI:0914”(association)	0.850
GPR21	TMEM120B	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
ADGRG5	KLRG2	psi-mi:“MI:0914”(association)	0.530
LYPD6	PLXNB2	psi-mi:“MI:0914”(association)	0.530
TMPRSS12	FZD6	psi-mi:“MI:0914”(association)	0.530
CHRND	TPST2	psi-mi:“MI:0914”(association)	0.530
GABRA3	HLA-C	psi-mi:“MI:0914”(association)	0.530
GABRD	ATF6	psi-mi:“MI:0914”(association)	0.530
TM2D2	TMEM97	psi-mi:“MI:0914”(association)	0.530
SIDT2	AP3D1	psi-mi:“MI:0914”(association)	0.530
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
EFNA4	NBAS	psi-mi:“MI:0914”(association)	0.350
ZACN	FAM234B	psi-mi:“MI:0914”(association)	0.350
CLRN2	FAM234B	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SIDT2	KLRG2	psi-mi:“MI:0914”(association)	0.350
SMIM5	KLRG2	psi-mi:“MI:0914”(association)	0.350
KLRC4	RAP1BL	psi-mi:“MI:0914”(association)	0.350
SCN4A	C2CD4B	psi-mi:“MI:0914”(association)	0.350
TBXA2R	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
CHRNB4	GPR89A	psi-mi:“MI:0914”(association)	0.350
HTR3C	GET1	psi-mi:“MI:0914”(association)	0.350
KLRC2	CLGN	psi-mi:“MI:0914”(association)	0.350
VNN2	ATP2A1	psi-mi:“MI:0914”(association)	0.350
KLRC3	RNF13	psi-mi:“MI:0914”(association)	0.350

BioGRID (159): SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS), SIDT2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNC1, A2VE61, A7XZ53, B1H3H9, D3ZEH5, F4HXY7, O35052, O95674, P48651, P98191, Q00576, Q01685, Q0JR55, Q0VCK9, Q28CY9, Q28H54, Q2KHY9, Q5EA65, Q5N8Q3, Q5R7B1, Q5U239, Q5ZKD1, Q5ZKJ0, Q5ZM65, Q6AXM5, Q6DD44, Q6DED0, Q6I628, Q7ZYQ3, Q803C9, Q8BGS7, Q8BXA5, Q8CIF6, Q8NBJ9, Q91XU8, Q91ZQ0, Q92903, Q96KA5, Q99KU0, Q99L43

Diamond homologs: D3ZEH5, Q6AXF6, Q6Q3F5, Q8CIF6, Q8NBJ9, Q9GYF0, Q9NXL6, Q9GZC8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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
Neurotransmitter receptors and postsynaptic signal transmission	6	22.3×	5e-06
Transmission across Chemical Synapses	6	16.9×	2e-05
Neuronal System	6	9.8×	3e-04

GO biological processes:

GO term	Partners	Fold	FDR
membrane depolarization	5	54.3×	4e-06
monoatomic ion transmembrane transport	10	44.3×	5e-12
regulation of membrane potential	5	24.6×	7e-05
chemical synaptic transmission	6	9.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	98
Likely benign	4
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3428 predictions. Top by Δscore:

Variant	Effect	Δscore
11:117179445:GG:G	donor_gain	1.0000
11:117179446:GG:G	donor_gain	1.0000
11:117181412:GCA:G	acceptor_loss	1.0000
11:117181413:CA:C	acceptor_loss	1.0000
11:117181414:A:AG	acceptor_gain	1.0000
11:117181415:G:GT	acceptor_gain	1.0000
11:117181415:GA:G	acceptor_gain	1.0000
11:117181415:GAC:G	acceptor_gain	1.0000
11:117181415:GACA:G	acceptor_gain	1.0000
11:117181494:G:GT	donor_gain	1.0000
11:117181533:GGGAT:G	donor_gain	1.0000
11:117181534:GGAT:G	donor_gain	1.0000
11:117181534:GGATG:G	donor_gain	1.0000
11:117181535:G:T	donor_gain	1.0000
11:117181535:GATG:G	donor_gain	1.0000
11:117181538:G:GG	donor_gain	1.0000
11:117181797:C:CA	acceptor_gain	1.0000
11:117181798:G:A	acceptor_gain	1.0000
11:117181804:TA:T	acceptor_loss	1.0000
11:117181805:A:AG	acceptor_gain	1.0000
11:117181805:AG:A	acceptor_gain	1.0000
11:117181806:G:A	acceptor_loss	1.0000
11:117181806:G:GT	acceptor_gain	1.0000
11:117181806:GG:G	acceptor_gain	1.0000
11:117181806:GGT:G	acceptor_gain	1.0000
11:117181806:GGTT:G	acceptor_gain	1.0000
11:117181806:GGTTT:G	acceptor_gain	1.0000
11:117181955:G:GT	donor_gain	1.0000
11:117182508:T:A	acceptor_gain	1.0000
11:117182511:A:AG	acceptor_gain	1.0000

AlphaMissense

5476 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:117181850:T:C	C117R	1.000
11:117182562:T:A	V187D	1.000
11:117182591:T:A	C197S	1.000
11:117182591:T:C	C197R	1.000
11:117182592:G:A	C197Y	1.000
11:117182592:G:C	C197S	1.000
11:117182593:C:G	C197W	1.000
11:117182603:T:C	S201P	1.000
11:117182723:T:A	C207S	1.000
11:117182723:T:C	C207R	1.000
11:117182724:G:C	C207S	1.000
11:117182772:A:C	Q223P	1.000
11:117183842:T:A	C256S	1.000
11:117183842:T:C	C256R	1.000
11:117183843:G:A	C256Y	1.000
11:117183843:G:C	C256S	1.000
11:117189191:T:C	L434P	1.000
11:117189193:G:C	A435P	1.000
11:117189351:G:C	A457P	1.000
11:117189357:T:C	F459L	1.000
11:117189359:C:A	F459L	1.000
11:117189359:C:G	F459L	1.000
11:117189367:T:A	L462H	1.000
11:117189370:C:A	P463H	1.000
11:117189370:C:G	P463R	1.000
11:117189382:T:A	L467Q	1.000
11:117189382:T:C	L467P	1.000
11:117189976:G:C	D482H	1.000
11:117189976:G:T	D482Y	1.000
11:117189977:A:C	D482A	1.000

dbSNP variants (sampled 300 via entrez): RS1000113010 (11:117183280 G>A), RS1000166602 (11:117186438 C>T), RS1000281405 (11:117184672 T>G), RS1000308337 (11:117178112 A>G,T), RS1000333880 (11:117196447 T>C,G), RS1000403496 (11:117188962 C>A,T), RS1000510691 (11:117179491 A>G), RS1000615795 (11:117183393 T>C), RS1000665202 (11:117194990 G>A), RS1000759991 (11:117195434 A>G,T), RS1000837687 (11:117189091 C>T), RS1001465976 (11:117185572 T>G), RS1001497251 (11:117185309 A>G), RS1001550638 (11:117178832 A>T), RS1001747975 (11:117180451 C>T)

Disease associations

OMIM: gene MIM:617551 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST010002_199	Refractive error	3.000000e-34
GCST010244_126	Triglyceride levels	1.000000e-13
GCST90002401_221	Platelet distribution width	2.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, increases methylation	4
Arsenic	affects expression, decreases expression, increases abundance, affects cotreatment	3
Air Pollutants	decreases expression, increases abundance	2
Cisplatin	affects expression, affects cotreatment, increases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
bisphenol A	affects cotreatment, increases expression	1
sodium arsenate	decreases expression, increases abundance	1
trichostatin A	increases expression	1
sodium arsenite	affects cotreatment, decreases expression, increases abundance	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
potassium chromate(VI)	affects cotreatment, increases expression	1
hydroquinone	increases expression, decreases degradation, decreases expression, increases reaction	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Amsacrine	increases expression, decreases expression, increases reaction	1
Benzo(a)pyrene	decreases expression	1
Cadmium	increases abundance, increases palmitoylation, decreases reaction	1
Demecolcine	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0NF	Ubigene HeLa SIDT2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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