STRN

Summary

STRN (striatin, HGNC:11424) is a protein-coding gene on chromosome 2p22.2, encoding Striatin (O43815). Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes.

Enables armadillo repeat domain binding activity; nuclear estrogen receptor binding activity; and protein phosphatase 2A binding activity. Involved in Wnt signaling pathway and negative regulation of cell population proliferation. Located in bicellular tight junction. Part of FAR/SIN/STRIPAK complex.

Source: NCBI Gene 6801 — RefSeq curated summary.

At a glance

• GWAS associations: 28
• Clinical variants (ClinVar): 131 total
• MANE Select transcript: NM_003162

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11424
Approved symbol	STRN
Name	striatin
Location	2p22.2
Locus type	gene with protein product
Status	Approved
Aliases	PPP2R6A, STRN1
Ensembl gene	ENSG00000115808
Ensembl biotype	protein_coding
OMIM	614765
Entrez	6801

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron

ENST00000263918, ENST00000495595, ENST00000874611, ENST00000874612, ENST00000927774, ENST00000950119, ENST00000950120, ENST00000950121, ENST00000950122

RefSeq mRNA: 1 — MANE Select: NM_003162 NM_003162

CCDS: CCDS1784

Canonical transcript exons

ENST00000263918 — 18 exons

Exon	Start	End
ENSE00000747017	36851000	36851107
ENSE00000747019	36855212	36855352
ENSE00000747020	36857856	36858023
ENSE00000747021	36861132	36861253
ENSE00000747022	36867814	36867861
ENSE00000747024	36869554	36869729
ENSE00000747028	36883932	36884075
ENSE00000747038	36902584	36902751
ENSE00000747040	36905540	36905618
ENSE00000747042	36916078	36916151
ENSE00000747045	36925105	36925208
ENSE00001140050	36966230	36966536
ENSE00001831767	36837698	36849625
ENSE00002479130	36849714	36849800
ENSE00003471071	36886716	36886826
ENSE00003492685	36899523	36899658
ENSE00003594649	36893898	36894033
ENSE00003655689	36877891	36878027

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 96.67.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.8927 / max 1085.4831, expressed in 1801 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
27755	13.9929	1792
27750	1.6207	85
27756	1.0398	609
27754	0.5576	300
27749	0.3365	81
27752	0.1965	58
27753	0.0865	41
27751	0.0621	41

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	96.67	gold quality
amniotic fluid	UBERON:0000173	96.50	gold quality
corpus callosum	UBERON:0002336	95.78	gold quality
gingival epithelium	UBERON:0001949	95.24	gold quality
esophagus squamous epithelium	UBERON:0006920	95.18	gold quality
gingiva	UBERON:0001828	93.59	gold quality
calcaneal tendon	UBERON:0003701	92.91	gold quality
oral cavity	UBERON:0000167	92.77	gold quality
inferior vagus X ganglion	UBERON:0005363	92.21	gold quality
germinal epithelium of ovary	UBERON:0001304	91.98	gold quality
subthalamic nucleus	UBERON:0001906	91.14	gold quality
colonic epithelium	UBERON:0000397	90.76	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.70	gold quality
tendon	UBERON:0000043	89.72	gold quality
parietal pleura	UBERON:0002400	89.22	gold quality
tibia	UBERON:0000979	89.06	gold quality
heart right ventricle	UBERON:0002080	88.75	gold quality
lateral globus pallidus	UBERON:0002476	88.64	gold quality
visceral pleura	UBERON:0002401	88.23	gold quality
buccal mucosa cell	CL:0002336	88.15	gold quality
tonsil	UBERON:0002372	88.07	gold quality
epithelium of esophagus	UBERON:0001976	88.06	gold quality
pleura	UBERON:0000977	88.01	gold quality
globus pallidus	UBERON:0001875	87.63	gold quality
medial globus pallidus	UBERON:0002477	87.27	gold quality
epithelium of nasopharynx	UBERON:0001951	87.01	gold quality
substantia nigra pars reticulata	UBERON:0001966	86.76	gold quality
adrenal tissue	UBERON:0018303	86.64	gold quality
squamous epithelium	UBERON:0006914	85.95	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.36	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.85

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

554 targeting STRN, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
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-4262	100.00	73.26	3931
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-5193	100.00	67.26	1744
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-1252-5P	100.00	69.80	2774

Literature-anchored findings (GeneRIF, showing 20)

• identify striatin as a molecular scaffold required for rapid, nongenomic estrogen-mediated activation of downstream signaling pathways (PMID:15569929)
• Taken together, splicing variation of SG2NA might have some critical roles in differentiation and maturation in metazoan cells. (PMID:18571342)
• Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
• Striatin orchestrates the regulation of Mst3 by PP2A. (PMID:21985334)
• A recurrent STRN/ALK fusion found in thyroid carcinomas. (PMID:24475247)
• Our data demonstrate that STRN-ALK fusion occurs in a subset of patients with highly aggressive types of thyroid cancer and provide initial evidence suggesting that it may represent a therapeutic target for these patients. (PMID:24613930)
• the rapid, nongenomic mineralocorticoid receptor pathway (mediated via striatin) has a role in modulating the interaction between salt intake and blood pressure. (PMID:25368024)
• PP2A/striatin complex modulates microtubule dynamics by regulating MAP2 phosphorylation (PMID:25497017)
• the “multimodulator” scaffold roles of striatins in the initiation and regulation of the formation of various complex particles and structures, are discussed. (PMID:25501894)
• we report 2 cases of renal cell carcinomas harboring a novel STRN-ALK fusion (PMID:26848800)
• In this review, we summarize the current understanding of the assembly and functions of STRIPAK complexes( striatin-centered multicomponent supramolecular structures containing both kinases and phosphatases), with a special focus on cell signaling and cancer (PMID:26876214)
• striatin-associated Salt Sensitive Blood Pressure is associated with normal plasma renin activity and reduced epinephrine levels (PMID:28985281)
• The prevalence of STRN-ALK kinase fusions were determined in papillary thyroid cancer of an adult population (PMID:29046324)
• STRN-ALK gene fusion is associated with radiation-associated Thyroid Cancer. (PMID:29165687)
• we detected novel and related STRN-NTRK3 and STRN3-NTRK3 fusions in 2 fibrosarcomas that occurred in the bone and soft tissue of young adult patients (PMID:30520818)
• Striatin genotype-based, mineralocorticoid receptor antagonist-driven clinical trial: study rationale and design. (PMID:33904521)
• ULK1 phosphorylation of striatin activates protein phosphatase 2A and autophagy. (PMID:34592149)
• Phosphorylation of Influenza A Virus Matrix Protein 1 at Threonine 108 Controls Its Multimerization State and Functional Association with the STRIPAK Complex. (PMID:36602306)
• Placental expression of striatin & endothelial nitric oxide synthase in women with & without pre-eclampsia. (PMID:37147942)
• Striatin Gene Variants Are Associated With Salt Sensitivity of Blood Pressure by Mechanisms That Differ in Women and Men. (PMID:38018471)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	strn	ENSDARG00000100011
mus_musculus	Strn	ENSMUSG00000024077
rattus_norvegicus	Strn	ENSRNOG00000004806
drosophila_melanogaster	Cka	FBGN0044323
caenorhabditis_elegans		WBGENE00010631

Paralogs (2): STRN4 (ENSG00000090372), STRN3 (ENSG00000196792)

Protein

Protein identifiers

Striatin — O43815 (reviewed: O43815)

All UniProt accessions (1): O43815

UniProt curated annotations — full annotation on UniProt →

Function. Calmodulin-binding scaffolding protein which is the center of the striatin-interacting phosphatase and kinase (STRIPAK) complexes. STRIPAK complexes have critical roles in protein (de)phosphorylation and are regulators of multiple signaling pathways including Hippo, MAPK, nuclear receptor and cytoskeleton remodeling. Different types of STRIPAK complexes are involved in a variety of biological processes such as cell growth, differentiation, apoptosis, metabolism and immune regulation.

Subunit / interactions. Part of the core of STRIPAK complexes composed of PP2A catalytic and scaffolding subunits, the striatins (PP2A regulatory subunits), the striatin-associated proteins MOB4, STRIP1 and STRIP2, PDCD10 and members of the STE20 kinases, such as STK24 and STK26. Interacts with CTTNBP2; this interaction may regulate dendritic spine distribution of STRN. Activation of glutamate receptors weakens the interaction with CTTNBP2.

Subcellular location. Cytoplasm. Membrane. Cell projection. Dendritic spine.

Tissue specificity. Preferentially expressed in brain.

Similarity. Belongs to the WD repeat striatin family.

Isoforms (2)

UniProt ID	Names	Canonical?
O43815-1	1	yes
O43815-2	2

RefSeq proteins (1): NP_003153* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR013258	Striatin_N	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR051488	WD_repeat_striatin	Family

Pfam: PF00400, PF08232

UniProt features (26 total): repeat 6, modified residue 6, region of interest 5, sequence conflict 4, splice variant 2, chain 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43815-F1	68.70	0.41

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 (6): 137, 225, 227, 229, 245, 259

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-1257604	PIP3 activates AKT signaling
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
R-HSA-9009391	Extra-nuclear estrogen signaling
R-HSA-9673766	Signaling by cytosolic PDGFRA and PDGFRB fusion proteins
R-HSA-9700645	ALK mutants bind TKIs
R-HSA-9725370	Signaling by ALK fusions and activated point mutants
R-HSA-162582	Signal Transduction
R-HSA-1643685	Disease
R-HSA-199418	Negative regulation of the PI3K/AKT network
R-HSA-2219528	PI3K/AKT Signaling in Cancer
R-HSA-5663202	Diseases of signal transduction by growth factor receptors and second messengers
R-HSA-8939211	ESR-mediated signaling
R-HSA-9006925	Intracellular signaling by second messengers
R-HSA-9006931	Signaling by Nuclear Receptors
R-HSA-9671555	Signaling by PDGFR in disease
R-HSA-9700206	Signaling by ALK in cancer

MSigDB gene sets: 260 (showing top): GOBP_DENDRITE_DEVELOPMENT, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, GOBP_BEHAVIOR, MODULE_255, GOBP_APICAL_JUNCTION_ASSEMBLY, MODULE_317, GOBP_NEUROGENESIS, GOBP_HIPPO_SIGNALING, CEBPB_01, ATGTTAA_MIR302C, GOBP_CELL_JUNCTION_ORGANIZATION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, MODULE_99, RYTTCCTG_ETS2_B, GOBP_CELL_JUNCTION_ASSEMBLY

GO Biological Process (6): locomotory behavior (GO:0007626), negative regulation of cell population proliferation (GO:0008285), regulation of signal transduction (GO:0009966), Wnt signaling pathway (GO:0016055), dendrite development (GO:0016358), bicellular tight junction assembly (GO:0070830)

GO Molecular Function (7): calmodulin binding (GO:0005516), nuclear estrogen receptor binding (GO:0030331), protein-macromolecule adaptor activity (GO:0030674), protein-containing complex binding (GO:0044877), protein phosphatase 2A binding (GO:0051721), armadillo repeat domain binding (GO:0070016), protein binding (GO:0005515)

GO Cellular Component (14): cytosol (GO:0005829), bicellular tight junction (GO:0005923), postsynaptic density (GO:0014069), membrane (GO:0016020), dendrite (GO:0030425), neuronal cell body (GO:0043025), dendritic spine (GO:0043197), postsynaptic membrane (GO:0045211), FAR/SIN/STRIPAK complex (GO:0090443), postsynapse (GO:0098794), cytoplasm (GO:0005737), cell junction (GO:0030054), cell projection (GO:0042995), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Diseases of signal transduction by growth factor receptors and second messengers	3
Signaling by ALK in cancer	2
Signal Transduction	2
Intracellular signaling by second messengers	1
PI3K/AKT Signaling in Cancer	1
Negative regulation of the PI3K/AKT network	1
ESR-mediated signaling	1
Signaling by PDGFR in disease	1
PIP3 activates AKT signaling	1
Disease	1
Signaling by Nuclear Receptors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	6
protein binding	2
binding	2
postsynapse	2
behavior	1
cell population proliferation	1
regulation of cell population proliferation	1
negative regulation of cellular process	1
signal transduction	1
regulation of cell communication	1
regulation of signaling	1
regulation of response to stimulus	1
cell surface receptor signaling pathway	1
neuron projection development	1
anatomical structure development	1
apical junction assembly	1
tight junction assembly	1
nuclear receptor binding	1
molecular adaptor activity	1
protein phosphatase binding	1
protein domain specific binding	1
cytoplasm	1
apical junction complex	1
tight junction	1
asymmetric synapse	1
postsynaptic specialization	1
neuron projection	1
dendritic tree	1
somatodendritic compartment	1
cell body	1
dendrite	1
neuron spine	1
synaptic membrane	1
protein-containing complex	1
synapse	1
intracellular anatomical structure	1
cell junction	1

Protein interactions and networks

STRING

1590 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
STRN	MOB4	Q9Y3A3	999
STRN	PPP2R1A	P30153	981
STRN	STRIP2	Q9ULQ0	975
STRN	PPP2CA	P05323	960
STRN	CALML3	P27482	959
STRN	CALML6	Q8TD86	958
STRN	CALML4	Q96GE6	958
STRN	CALML5	Q9NZT1	958
STRN	STRIP1	Q5VSL9	955
STRN	CALM1	P02593	933
STRN	STK25	O00506	889
STRN	MINK1	Q8N4C8	888
STRN	STK26	Q9P289	874
STRN	SLMAP	Q14BN4	866
STRN	STK24	Q9Y6E0	829

IntAct

188 interactions, top by confidence:

A	B	Type	Score
PDCD10	STK25	psi-mi:“MI:0914”(association)	0.980
STK25	STRN	psi-mi:“MI:0914”(association)	0.900
STK25	STRN	psi-mi:“MI:0915”(physical association)	0.900
STK24	STK25	psi-mi:“MI:0914”(association)	0.890
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
PPP2R1A	STRN	psi-mi:“MI:2364”(proximity)	0.880
STRN3	STRN	psi-mi:“MI:0915”(physical association)	0.880
PPP2R1A	STRN	psi-mi:“MI:0915”(physical association)	0.880
STRN	STRN3	psi-mi:“MI:0915”(physical association)	0.880
STRN3	STK25	psi-mi:“MI:0914”(association)	0.880
CTTNBP2NL	STK25	psi-mi:“MI:0914”(association)	0.880
STRN3	STRN	psi-mi:“MI:0914”(association)	0.880
STRN3	STRN	psi-mi:“MI:2364”(proximity)	0.880
STK24	STRN	psi-mi:“MI:0915”(physical association)	0.870
STK24	STRN	psi-mi:“MI:0914”(association)	0.870
STK26	STRN	psi-mi:“MI:0915”(physical association)	0.860
STK26	STRN	psi-mi:“MI:0914”(association)	0.860

BioGRID (336): TFIP11 (Two-hybrid), RINT1 (Two-hybrid), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), STRN (Affinity Capture-MS), PPP2R1B (Affinity Capture-MS), CTTNBP2NL (Affinity Capture-MS), CTTNBP2 (Affinity Capture-MS), FGFR1OP2 (Affinity Capture-MS)

ESM2 similar proteins: A2AC93, B2RY71, E7F6H7, E9PYY5, E9Q5M6, O14576, O43815, O55106, O88485, O88487, P27766, P36872, P70483, Q0III3, Q13409, Q13610, Q16959, Q16960, Q29RQ3, Q2HJ56, Q32KS2, Q32LP9, Q4QR00, Q4V8G4, Q5DQR4, Q5NVM2, Q5SQE2, Q5VTH9, Q5XIL8, Q5ZLK1, Q62871, Q63100, Q66HC9, Q6GPB9, Q8BPM2, Q8C0M8, Q8C0P5, Q8IVH8, Q8IWG1, Q92828

Diamond homologs: A1C7E4, A1CBP8, A1CUD6, A1DDL6, A1DHW6, A1DP19, A2QCU8, A2R3Z3, A3LNI7, A4RJV3, A5D7H2, A7EKM8, B0XM00, B0XTS1, B2VWG7, B6GZA1, B6Q4Z5, B6QC06, B6QC56, B8M0Q1, B8M7Q5, B8NGT5, C0S902, C1GB49, C5FP68, C5GVJ9, C5JD40, D1ZEM6, D4AM37, D4D8P3, L7N1X6, O43815, O55106, P0DL28, P39014, P58404, P58405, P70483, P87053, Q00659

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
CTTNBP2NL	“up-regulates activity”	STRN	binding
STRN	“up-regulates activity”	PPP2CA	binding
STRN	“up-regulates activity”	PPP2CB	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 142 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
RAF activation	6	26.5×	1e-05
Degradation of beta-catenin by the destruction complex	8	18.2×	3e-06
Regulation of PTEN stability and activity	5	12.1×	1e-03
Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal	7	10.7×	1e-04
EML4 and NUDC in mitotic spindle formation	7	8.6×	4e-04
UCH proteinases	5	8.2×	5e-03
Separation of Sister Chromatids	10	8.0×	5e-05
Resolution of Sister Chromatid Cohesion	7	8.0×	6e-04

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of hippo signaling	8	46.4×	3e-09
regulation of MAPK cascade	5	18.8×	1e-03
protein autophosphorylation	9	10.8×	6e-05
protein phosphorylation	11	6.2×	5e-04
intracellular signal transduction	12	3.8×	9e-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	75
Likely benign	3
Benign	31

Top pathogenic / likely-pathogenic (0)

SpliceAI

3868 predictions. Top by Δscore:

Variant	Effect	Δscore
2:36849623:GACC:G	acceptor_loss	1.0000
2:36849625:CCT:C	acceptor_loss	1.0000
2:36849627:T:A	acceptor_loss	1.0000
2:36849712:A:AC	donor_gain	1.0000
2:36849712:ACTG:A	donor_gain	1.0000
2:36849713:C:CA	donor_gain	1.0000
2:36849713:CTG:C	donor_gain	1.0000
2:36849713:CTGC:C	donor_gain	1.0000
2:36849800:CCTT:C	acceptor_gain	1.0000
2:36849803:T:C	acceptor_gain	1.0000
2:36850994:TCTTA:T	donor_loss	1.0000
2:36850995:CTTA:C	donor_loss	1.0000
2:36850996:TTAC:T	donor_loss	1.0000
2:36850997:TAC:T	donor_loss	1.0000
2:36850998:A:AC	donor_gain	1.0000
2:36850998:ACCTG:A	donor_loss	1.0000
2:36850999:C:CA	donor_loss	1.0000
2:36850999:C:CC	donor_gain	1.0000
2:36851103:GGCTG:G	acceptor_gain	1.0000
2:36851105:CTG:C	acceptor_gain	1.0000
2:36851106:TG:T	acceptor_gain	1.0000
2:36851107:GCTA:G	acceptor_loss	1.0000
2:36851108:C:CC	acceptor_gain	1.0000
2:36851108:CTA:C	acceptor_loss	1.0000
2:36851109:T:C	acceptor_loss	1.0000
2:36855210:A:AC	donor_gain	1.0000
2:36855211:C:CC	donor_gain	1.0000
2:36857879:A:AC	donor_gain	1.0000
2:36867812:A:AC	donor_gain	1.0000
2:36867813:C:CC	donor_gain	1.0000

AlphaMissense

5161 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:36849472:G:T	A776D	1.000
2:36849481:T:A	D773V	1.000
2:36849482:C:G	D773H	1.000
2:36849487:C:T	G771E	1.000
2:36849488:C:G	G771R	1.000
2:36849488:C:T	G771R	1.000
2:36849490:G:T	A770D	1.000
2:36849492:A:C	S769R	1.000
2:36849492:A:T	S769R	1.000
2:36849494:T:G	S769R	1.000
2:36849496:G:T	A768D	1.000
2:36849572:C:T	E743K	1.000
2:36849579:A:C	C740W	1.000
2:36849580:C:T	C740Y	1.000
2:36849581:A:G	C740R	1.000
2:36849600:C:A	W733C	1.000
2:36849600:C:G	W733C	1.000
2:36849601:C:G	W733S	1.000
2:36849602:A:G	W733R	1.000
2:36849602:A:T	W733R	1.000
2:36849607:C:G	R731P	1.000
2:36849608:G:C	R731G	1.000
2:36849608:G:T	R731S	1.000
2:36849610:A:T	I730K	1.000
2:36849614:A:G	S729P	1.000
2:36849619:T:A	D727V	1.000
2:36849619:T:G	D727A	1.000
2:36849620:C:A	D727Y	1.000
2:36849620:C:G	D727H	1.000
2:36849624:A:C	S725R	1.000

dbSNP variants (sampled 300 via entrez): RS1000022671 (2:36853159 A>AG), RS1000047534 (2:36841464 AAAAT>A), RS1000050651 (2:36912583 C>G), RS1000064273 (2:36918359 G>A,T), RS1000093942 (2:36844281 G>C), RS1000109963 (2:36914973 G>A,T), RS1000123166 (2:36879250 T>C), RS1000143138 (2:36918690 A>T), RS1000162054 (2:36964391 A>G), RS1000187948 (2:36950069 A>G), RS1000191607 (2:36962043 C>T), RS1000192841 (2:36881725 T>C,G), RS1000193087 (2:36895923 CA>C,CAA), RS1000200319 (2:36912882 C>G), RS1000203136 (2:36895706 T>C,G)

Disease associations

OMIM: gene MIM:614765 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

28 associations (top):

Study	Trait	p-value
GCST003598_33	QRS duration	2.000000e-09
GCST003598_4	QRS duration	2.000000e-09
GCST003844_26	QRS duration	5.000000e-11
GCST003901_16	Cognitive decline (age-related)	5.000000e-06
GCST004612_168	High light scatter reticulocyte percentage of red cells	7.000000e-09
GCST004628_143	Immature fraction of reticulocytes	4.000000e-10
GCST005998_5	Alanine transaminase levels	4.000000e-08
GCST009391_135	Metabolite levels	7.000000e-06
GCST010173_136	Triglyceride levels	5.000000e-09
GCST010244_295	Triglyceride levels	3.000000e-12
GCST010320_103	PR interval	6.000000e-23
GCST010321_187	PR interval	1.000000e-23
GCST010346_33	TPE interval (resting)	8.000000e-10
GCST010346_60	TPE interval (resting)	3.000000e-08
GCST010697_37	Cortical surface area (min-P)	6.000000e-31
GCST010698_20	Subcortical volume (min-P)	1.000000e-08
GCST010699_106	Brain morphology (min-P)	2.000000e-11
GCST010700_34	Cortical thickness (MOSTest)	2.000000e-08
GCST010701_57	Cortical surface area (MOSTest)	4.000000e-16
GCST010702_109	Subcortical volume (MOSTest)	1.000000e-09
GCST010703_96	Brain morphology (MOSTest)	6.000000e-46
GCST012099_13	Hypertrophic cardiomyopathy (sarcomere negative)	1.000000e-07
GCST012490_513	Femur bone mineral density x serum urate levels interaction	5.000000e-08
GCST012490_99	Femur bone mineral density x serum urate levels interaction	9.000000e-09
GCST90000025_807	Appendicular lean mass	7.000000e-11
GCST90002395_525	Mean platelet volume	2.000000e-53
GCST90002404_15	Red cell distribution width	5.000000e-09
GCST90011898_96	Alanine aminotransferase levels	3.000000e-08

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0005054	QRS complex
EFO:0007986	reticulocyte count
EFO:0010355	diacylglycerol 36:2 measurement
EFO:0004530	triglyceride measurement
EFO:0004462	PR interval
EFO:0004644	TPE interval measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004531	urate measurement
EFO:0004980	appendicular lean mass
EFO:0009188	Red cell distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Valproic Acid	decreases expression, decreases methylation	2
Cyclosporine	increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
arsenite	decreases reaction, affects binding	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Vehicle Emissions	increases abundance, increases expression	1

Clinical trials (associated diseases)

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