RIT2

Summary

RIT2 (Ras like without CAAX 2, HGNC:10017) is a protein-coding gene on chromosome 18q12.3, encoding GTP-binding protein Rit2 (Q99578). Binds and exchanges GTP and GDP.

RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).

Source: NCBI Gene 6014 — RefSeq curated summary.

At a glance

• GWAS associations: 33
• Clinical variants (ClinVar): 31 total — 1 pathogenic
• MANE Select transcript: NM_002930

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10017
Approved symbol	RIT2
Name	Ras like without CAAX 2
Location	18q12.3
Locus type	gene with protein product
Status	Approved
Aliases	RIBA
Ensembl gene	ENSG00000152214
Ensembl biotype	protein_coding
OMIM	609592
Entrez	6014

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay

ENST00000326695, ENST00000589109, ENST00000590910, ENST00000594852, ENST00000650392, ENST00000949722, ENST00000949723

RefSeq mRNA: 2 — MANE Select: NM_002930 NM_001272077, NM_002930

CCDS: CCDS11921, CCDS62431

Canonical transcript exons

ENST00000326695 — 5 exons

Exon	Start	End
ENSE00001004028	42974074	42974147
ENSE00001186863	43033811	43033867
ENSE00003547591	42743227	42743720
ENSE00003558304	42923572	42923763
ENSE00003844024	43115417	43115685

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 94.25.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.3159 / max 261.9774, expressed in 97 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171746	0.7601	92
171744	0.3057	71
171745	0.1547	61
171747	0.0522	30
171743	0.0432	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar cortex	UBERON:0002129	94.25	gold quality
cerebellar hemisphere	UBERON:0002245	94.23	gold quality
cerebellum	UBERON:0002037	93.64	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.51	gold quality
cerebellar vermis	UBERON:0004720	91.79	gold quality
endothelial cell	CL:0000115	91.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	86.82	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.56	gold quality
prefrontal cortex	UBERON:0000451	86.12	gold quality
nucleus accumbens	UBERON:0001882	85.14	gold quality
hypothalamus	UBERON:0001898	85.10	gold quality
right frontal lobe	UBERON:0002810	84.99	gold quality
frontal cortex	UBERON:0001870	83.77	gold quality
orbitofrontal cortex	UBERON:0004167	83.39	gold quality
paraflocculus	UBERON:0005351	83.13	gold quality
neocortex	UBERON:0001950	83.07	gold quality
cingulate cortex	UBERON:0003027	82.98	gold quality
Brodmann (1909) area 23	UBERON:0013554	82.95	gold quality
anterior cingulate cortex	UBERON:0009835	82.86	gold quality
Brodmann (1909) area 46	UBERON:0006483	82.61	gold quality
middle temporal gyrus	UBERON:0002771	82.11	gold quality
cerebral cortex	UBERON:0000956	81.64	gold quality
Brodmann (1909) area 10	UBERON:0013541	80.84	gold quality
caudate nucleus	UBERON:0001873	80.66	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.48	gold quality
telencephalon	UBERON:0001893	80.21	gold quality
superior vestibular nucleus	UBERON:0007227	80.19	gold quality
superior frontal gyrus	UBERON:0002661	79.21	gold quality
primary visual cortex	UBERON:0002436	79.19	gold quality
brain	UBERON:0000955	79.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.58

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
EGR1	Activation

Upstream regulators (CollecTRI, top): ISL1, POU4F1, POU4F2, POU4F3

miRNA regulators (miRDB)

28 targeting RIT2, 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-4692	100.00	67.32	2066
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
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-613	99.91	71.50	1710
HSA-MIR-221-3P	99.86	71.56	1329
HSA-MIR-222-3P	99.86	71.35	1337
HSA-MIR-6505-5P	99.73	69.25	1595
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-5584-5P	99.49	68.22	2814
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-3145-3P	98.85	69.07	2031
HSA-MIR-5586-5P	96.29	68.02	685

Literature-anchored findings (GeneRIF, showing 21)

• Modulates the activation of the Brn-3a regulated egr-1 promoter by the N-terminal domain of Brn-3a (PMID:12934100)
• Neuron-specific small GTPase Rin is involved in downstream signaling of plexin B3. (PMID:16122393)
• observations establish Rin as a neuronal specific regulator of neurotrophin signaling, required to couple NGF stimulation to sustain activation of p38 MAP kinase and b-Raf signaling cascades required for neuronal development (PMID:16157584)
• Rin interacts directly with dopamine transporter DAT in a protein kinase (PK)C-regulated manner and is required for PKC-mediated DAT internalization. (PMID:21957239)
• This meta-analysis identifies a novel Parkinson’s disease locus, RIT2, that replicates several previously identified loci on chromosome 18. (PMID:22451204)
• failed to replicate the RIT2 rs12456492 variant as a genetic risk factor for Parkinson’s disease in our population. (PMID:23635658)
• These studies confirm the expression of RIT2 in retinal neuronal cells. (PMID:23805044)
• findings increase the likelihood of association between Parkinson’s disease and RIT2 variant in Asian populations (PMID:25146456)
• Its polymorphism is associated with Parkinson’s disease in a Han Chinese population. (PMID:25457028)
• The data of this study suggested that the RIT2 polymorphisms are associated with Parkinson disease etiology. (PMID:25534083)
• performed a case-control replication study in this population and investigated RIT2 rs12456492 variant in a large cohort of Chinese Han individuals (PMID:25559334)
• the G allele, GG and GA genotype of rs12456492(A/G) polymorphism may increase the risk of Parkinson disease. [meta-analysis] (PMID:26188085)
• The current meta-analysis suggested that rs12456492 might be associated with increased PD risk in Asian populations, but studies using larger sample sizes and different ethnic populations will be needed to further confirm this association. (PMID:26334395)
• Significant association of RIT2 Polymorphisms was observed between rs12456492 and two disorders, Parkinson’s disease and essential tremor (PMID:26941103)
• RIT2 rs12456492 do not increase the risk of developing Parkinson’s in Han Chinese. (PMID:27889863)
• An RIT2 gene variant was found to be a risk factor for autism spectrum disorder in Iranian patients. (PMID:28190241)
• Findings indicate for the first time, selective advantage for a human-specific allele at an short tandem repeat locus in the human RIT2 core promoter. (PMID:28214997)
• RIT2 gene was recently introduced as a susceptibility gene in neurological disorders, a group of major problems in human society affecting millions of people worldwide. Several variants, including single nucleotide polymorphisms and CNVs, have been identified and studied in different populations. (PMID:29860660)
• Dabrafenib targets B-Raf, and we confirmed a protein-protein interaction between B-Raf and Rit2, which is coded by RIT2, a Parkinson’s disease (PD) risk gene in Asians and Caucasians. (PMID:30137437)
• Association of RIT2 and RAB7L1 with Parkinson’s disease: a case-control study in a Taiwanese cohort and a meta-analysis in Asian populations. (PMID:31818509)
• Association between RIT2 rs16976358 Polymorphism and Autism Spectrum Disorder in Asian Populations: A Meta-analysis. (PMID:36820223)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rit2	ENSMUSG00000057455
rattus_norvegicus	Rit2	ENSRNOG00000017568
drosophila_melanogaster	Ric	FBGN0265605

Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), GEM (ENSG00000164949), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)

Protein

Protein identifiers

GTP-binding protein Rit2 — Q99578 (reviewed: Q99578)

Alternative names: Ras-like protein expressed in neurons, Ras-like without CAAX protein 2

All UniProt accessions (3): Q99578, A0A3B3ITB4, K7EMR8

UniProt curated annotations — full annotation on UniProt →

Function. Binds and exchanges GTP and GDP. Binds and modulates the activation of POU4F1 as gene expression regulator.

Subunit / interactions. Interacts with AFDN, the C-terminal domain of RALGDS and RLF, but not with RIN1 and PIK3CA. RLF binds exclusively to the active GTP-bound form. Binds calmodulin. Interacts with PLXNB3. Interacts with POU4F1 (via N-terminus); the interaction controls POU4F1 transactivation activity on some neuronal target genes.

Subcellular location. Nucleus. Cell membrane.

Tissue specificity. Neuron-specific.

Miscellaneous. Shows rapid uncatalyzed guanine nucleotide dissociation rates, which are much faster than those of most Ras subfamily members.

Similarity. Belongs to the small GTPase superfamily. Ras family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99578-1	1	yes
Q99578-2	2, RIBA

RefSeq proteins (2): NP_001259006, NP_002921* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001806	Small_GTPase	Family
IPR005225	Small_GTP-bd	Domain
IPR020849	Small_GTPase_Ras-type	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF00071

Catalyzed reactions (Rhea), 1 shown:

• GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)

UniProt features (9 total): binding site 3, sequence conflict 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99578-F1	88.46	0.70

Functional residue map

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

Ligand- & substrate-binding residues (3): 27–34; 74–78; 133–136

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-187706	Signalling to p38 via RIT and RIN

MSigDB gene sets: 142 (showing top): GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, YAGI_AML_WITH_INV_16_TRANSLOCATION, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, chr18q12, GOBP_MAINTENANCE_OF_LOCATION, KYNG_DNA_DAMAGE_BY_GAMMA_RADIATION

GO Biological Process (14): adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), small GTPase-mediated signal transduction (GO:0007264), Ras protein signal transduction (GO:0007265), chemical synaptic transmission (GO:0007268), positive regulation of neuron projection development (GO:0010976), negative regulation of neuron projection development (GO:0010977), regulation of endocytosis (GO:0030100), regulation of Cdc42 protein signal transduction (GO:0032489), maintenance of protein location in cell (GO:0032507), intracellular signal transduction (GO:0035556), positive regulation of MAPK cascade (GO:0043410), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of calcium-mediated signaling (GO:0050848), signal transduction (GO:0007165)

GO Molecular Function (10): chromatin binding (GO:0003682), GTPase activity (GO:0003924), G protein activity (GO:0003925), calmodulin binding (GO:0005516), GTP binding (GO:0005525), GDP binding (GO:0019003), semaphorin receptor binding (GO:0030215), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (13): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), neuron projection (GO:0043005), cell body (GO:0044297), membrane raft (GO:0045121), synapse (GO:0045202), dendritic tree (GO:0097447), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signalling to ERKs	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
regulation of neuron projection development	2
neuron projection development	2
intracellular anatomical structure	2
binding	2
guanyl ribonucleotide binding	2
intracellular membrane-bounded organelle	2
cytoplasm	2
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase activator activity	1
intracellular signaling cassette	1
small GTPase-mediated signal transduction	1
anterograde trans-synaptic signaling	1
positive regulation of cell projection organization	1
negative regulation of cell projection organization	1
endocytosis	1
regulation of cellular component organization	1
regulation of vesicle-mediated transport	1
Cdc42 protein signal transduction	1
regulation of Rho protein signal transduction	1
maintenance of protein location	1
maintenance of location in cell	1
signal transduction	1
MAPK cascade	1
regulation of MAPK cascade	1
positive regulation of intracellular signal transduction	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
calcium-mediated signaling	1
regulation of intracellular signal transduction	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
ribonucleoside triphosphate phosphatase activity	1
GTPase activity	1
molecular function regulator activity	1
protein binding	1

Protein interactions and networks

STRING

3201 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RIT2	POU4F1	Q01851	775
RIT2	POU4F2	Q12837	702
RIT2	CCDC62	Q6P9F0	596
RIT2	SLC6A3	Q01959	575
RIT2	RIN1	Q13671	550
RIT2	GAK	O14976	533
RIT2	SYT11	Q9BT88	522
RIT2	SYT12	Q8IV01	508
RIT2	SIPA1L2	Q9P2F8	507
RIT2	DGKQ	P52824	505
RIT2	EGR1	P18146	496
RIT2	MCCC1	Q96RQ3	480
RIT2	STK39	Q9UEW8	480
RIT2	SYT4	Q9H2B2	478
RIT2	BRAF	P15056	471
RIT2	ACMSD	Q8TDX5	471

IntAct

13 interactions, top by confidence:

A	B	Type	Score
RGL3	RIT2	psi-mi:“MI:0915”(physical association)	0.560
RIT1	MAD2L1BP	psi-mi:“MI:0914”(association)	0.530
SLC6A3	RIT2	psi-mi:“MI:0915”(physical association)	0.500
SLC6A3	RIT2	psi-mi:“MI:0403”(colocalization)	0.500
SLC6A3	RIT2	psi-mi:“MI:2364”(proximity)	0.500
SRPK2	RIT2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
GRB2	RIT2	psi-mi:“MI:0915”(physical association)	0.400
RIT2	VPS37C	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): LZTR1 (Affinity Capture-MS), RIT2 (Affinity Capture-MS), LZTR1 (Affinity Capture-MS), RIT2 (Two-hybrid), RIT2 (Reconstituted Complex), RGL3 (Two-hybrid), CALM1 (Reconstituted Complex), RIT2 (Affinity Capture-MS), RAB5A (Biochemical Activity), RLF (Reconstituted Complex), RIT2 (Affinity Capture-MS), VPS37C (Affinity Capture-MS), LZTR1 (Affinity Capture-MS), RIT2 (Affinity Capture-MS), RIT2 (Affinity Capture-Western)

ESM2 similar proteins: A1DZY4, A6QP66, O35626, P0C0E4, P51157, P51158, P55040, P55041, P57729, P63032, P63033, P70425, Q06AU5, Q0VCJ7, Q12829, Q13637, Q19143, Q3SWY9, Q5BJQ5, Q5E9J3, Q5FVY2, Q5R541, Q5RFI2, Q6DGN0, Q6IMA3, Q6IMA7, Q6IMB1, Q6P0U3, Q6T310, Q7TNZ5, Q7YS69, Q8AVS6, Q8QZZ8, Q8R367, Q8TAI7, Q8VHP8, Q8VHQ4, Q8WXH6, Q922H7, Q92730

Diamond homologs: A1DZY4, A5A6J7, A6NIZ1, A6QP66, A8NU18, C4YKT4, F1PTE3, G4MZY8, G4N1S3, O08989, O14807, O42785, O93856, P01119, P03967, P08645, P08647, P0CQ42, P0CQ43, P0CY32, P10114, P22123, P22128, P22278, P22280, P28775, P32252, P32254, P34726, P34729, P35286, P38976, P51153, P61028, P61223, P61224, P61225, P61226, P61227, P62070

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
RIT2	“up-regulates activity”	POU4F1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	22
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
816008	GRCh37/hg19 18q12.2-12.3(chr18:35075741-42526183)x1	Pathogenic

SpliceAI

2940 predictions. Top by Δscore:

Variant	Effect	Δscore
18:42743722:T:G	acceptor_loss	1.0000
18:42923568:TCA:T	donor_loss	1.0000
18:42923569:CA:C	donor_loss	1.0000
18:42923760:CTGC:C	acceptor_gain	1.0000
18:42923761:TGC:T	acceptor_gain	1.0000
18:42923762:GC:G	acceptor_gain	1.0000
18:42923763:CC:C	acceptor_gain	1.0000
18:42923764:C:CC	acceptor_gain	1.0000
18:42923765:T:A	acceptor_loss	1.0000
18:42923767:C:CT	acceptor_gain	1.0000
18:42923768:A:T	acceptor_gain	1.0000
18:42974069:CCTA:C	donor_loss	1.0000
18:42974070:CTA:C	donor_loss	1.0000
18:42974071:TAC:T	donor_loss	1.0000
18:42974072:ACCTG:A	donor_loss	1.0000
18:42974073:C:CG	donor_loss	1.0000
18:42974145:CTT:C	acceptor_gain	1.0000
18:42974146:TT:T	acceptor_gain	1.0000
18:42974147:TC:T	acceptor_loss	1.0000
18:42974148:C:CC	acceptor_gain	1.0000
18:42974149:T:A	acceptor_loss	1.0000
18:43033806:CTTA:C	donor_loss	1.0000
18:43033807:TTACC:T	donor_loss	1.0000
18:43033808:TACCT:T	donor_loss	1.0000
18:43033809:A:T	donor_loss	1.0000
18:43033810:C:A	donor_loss	1.0000
18:43033863:CATTG:C	acceptor_gain	1.0000
18:43033865:TTG:T	acceptor_gain	1.0000
18:43033865:TTGC:T	acceptor_loss	1.0000
18:43033866:TG:T	acceptor_gain	1.0000

AlphaMissense

1448 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:42923597:T:A	K134I	1.000
18:42923713:G:C	F95L	1.000
18:42923713:G:T	F95L	1.000
18:42923715:A:G	F95L	1.000
18:42923755:G:C	F81L	1.000
18:42923755:G:T	F81L	1.000
18:42923757:A:G	F81L	1.000
18:42974087:T:A	D74V	1.000
18:42974087:T:C	D74G	1.000
18:42974087:T:G	D74A	1.000
18:43115422:T:A	K33I	1.000
18:42743659:G:A	S163F	0.999
18:42923596:T:A	K134N	0.999
18:42923596:T:G	K134N	0.999
18:42923599:G:C	N133K	0.999
18:42923599:G:T	N133K	0.999
18:42923603:C:T	G132D	0.999
18:42923700:A:G	S100P	0.999
18:42923714:A:G	F95S	0.999
18:42923718:C:G	G94R	0.999
18:42923756:A:G	F81S	0.999
18:42974078:C:T	G77D	0.999
18:42974079:C:G	G77R	0.999
18:42974081:G:T	A76D	0.999
18:42974086:G:C	D74E	0.999
18:42974086:G:T	D74E	0.999
18:42974088:C:A	D74Y	0.999
18:42974088:C:G	D74H	0.999
18:43033836:G:C	F45L	0.999
18:43033836:G:T	F45L	0.999

dbSNP variants (sampled 300 via entrez): RS1000000659 (18:42994091 C>A,T), RS1000004332 (18:43114702 A>G), RS1000007772 (18:42894757 T>C), RS1000008864 (18:42935782 G>A), RS1000015849 (18:42909144 A>G), RS1000021757 (18:43096438 A>G), RS1000036131 (18:42871060 G>A,C), RS1000054380 (18:42888596 A>G), RS1000068650 (18:42979349 A>G,T), RS1000076017 (18:42743987 A>G), RS1000085561 (18:42972436 T>A), RS1000085907 (18:42929577 T>C), RS1000092689 (18:42762647 A>T), RS1000121030 (18:43052954 C>A,G,T), RS1000122869 (18:42842319 C>T)

Disease associations

OMIM: gene MIM:609592 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

33 associations (top):

Study	Trait	p-value
GCST000477_55	Cognitive performance	8.000000e-06
GCST001126_6	Parkinson’s disease	2.000000e-07
GCST001430_17	Parkinson’s disease	2.000000e-10
GCST001693_9	Acute lymphoblastic leukemia (childhood)	5.000000e-06
GCST002097_34	Coronary artery calcification	4.000000e-06
GCST002136_15	Periodontitis (PAL4Q3)	4.000000e-06
GCST002379_5	Pyoderma gangrenosum in inflammatory bowel disease	2.000000e-06
GCST002544_6	Parkinson’s disease	8.000000e-12
GCST003104_1	Autism spectrum disorder	6.000000e-07
GCST003984_12	Parkinson’s disease	2.000000e-10
GCST004065_18	Waist circumference	2.000000e-09
GCST004065_61	Waist circumference	1.000000e-08
GCST004068_31	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	4.000000e-06
GCST004904_196	Body mass index	1.000000e-09
GCST004904_246	Body mass index	7.000000e-09
GCST005951_20	Body mass index	3.000000e-08
GCST006099_3	Accelerometer-based physical activity measurement (average acceleration)	2.000000e-09
GCST007326_98	Number of sexual partners	3.000000e-12
GCST008152_175	Weight	8.000000e-06
GCST008158_28	Body mass index	5.000000e-06
GCST008811_39	Alcohol consumption (drinks per week)	2.000000e-08
GCST009028_29	Adverse response to drug	5.000000e-07
GCST009325_62	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	4.000000e-23
GCST009391_1058	Metabolite levels	5.000000e-06
GCST009391_1356	Metabolite levels	9.000000e-06
GCST009391_143	Metabolite levels	9.000000e-06
GCST010049_7	Parkinson’s disease	5.000000e-08
GCST010241_250	Apolipoprotein A1 levels	5.000000e-09
GCST010242_445	HDL cholesterol levels	4.000000e-11
GCST010703_248	Brain morphology (MOSTest)	2.000000e-14

EFO canonical traits (14, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0004723	coronary artery calcification
EFO:0006835	pyoderma gangrenosum
EFO:0004340	body mass index
EFO:0008002	physical activity measurement
EFO:0004338	body weight
EFO:0009658	adverse effect
EFO:0010363	lysophosphatidylcholine 20:4 measurement
EFO:0010365	lysophosphatidylcholine 22:6 measurement
EFO:0010475	deoxycholate measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004346	neuroimaging measurement
EFO:0009749	age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases methylation, increases expression	2
Aflatoxin B1	decreases methylation, increases methylation	2
bisphenol A	affects cotreatment, decreases methylation	1
arsenite	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Decitabine	affects expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Benzo(a)pyrene	increases methylation	1
Carmustine	decreases expression	1
Cisplatin	affects expression	1
Quercetin	increases expression	1
Thiram	increases expression	1
Sodium Selenite	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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