SHTN1

Summary

SHTN1 (shootin 1, HGNC:29319) is a protein-coding gene on chromosome 10q25.3, encoding Shootin-1 (A0MZ66). Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth.

Enables identical protein binding activity. Involved in positive regulation of neuron migration. Located in cytoplasm and microtubule.

Source: NCBI Gene 57698 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 52 total
• Cancer driver (intOGen): activating (oncogene-like) across 1 cancer types
• MANE Select transcript: NM_001127211

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29319
Approved symbol	SHTN1
Name	shootin 1
Location	10q25.3
Locus type	gene with protein product
Status	Approved
Aliases	shootin1, shootin-1
Ensembl gene	ENSG00000187164
Ensembl biotype	protein_coding
OMIM	611171
Entrez	57698

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000260777, ENST00000355371, ENST00000392901, ENST00000392903, ENST00000490615, ENST00000497044, ENST00000615301, ENST00000952152, ENST00000952153, ENST00000952154

RefSeq mRNA: 5 — MANE Select: NM_001127211 NM_001127211, NM_001258298, NM_001258299, NM_001258300, NM_018330

CCDS: CCDS31293, CCDS44482, CCDS58097, CCDS73207, CCDS73208

Canonical transcript exons

ENST00000355371 — 17 exons

Exon	Start	End
ENSE00003484866	116960136	116960230
ENSE00003492314	116968652	116968712
ENSE00003524759	116979256	116979308
ENSE00003646463	116906627	116906747
ENSE00003690620	116901765	116901957
ENSE00003801643	116948916	116948997
ENSE00003802168	116954042	116954210
ENSE00003802176	116927792	116927891
ENSE00003803250	116921434	116921516
ENSE00003807325	116915375	116915484
ENSE00003807356	116940466	116940612
ENSE00003807949	116944924	116945018
ENSE00003810050	116951909	116952006
ENSE00003811172	116929849	116930002
ENSE00003811329	116911790	116911843
ENSE00003841366	117005022	117005187
ENSE00003846629	116881477	116886566

Expression profiles

Bgee: expression breadth ubiquitous, 281 present calls, max score 99.37.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.8808 / max 7119.3927, expressed in 1639 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111579	15.4830	1512
111578	8.4737	1331
111576	2.9748	205
111584	2.5272	492
111581	2.0155	589
111583	1.5770	246
111580	1.5248	547
111572	1.2913	195
111577	1.1367	197
111582	0.7680	305

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
medial globus pallidus	UBERON:0002477	99.37	gold quality
inferior vagus X ganglion	UBERON:0005363	99.36	gold quality
globus pallidus	UBERON:0001875	99.34	gold quality
subthalamic nucleus	UBERON:0001906	99.32	gold quality
cranial nerve II	UBERON:0000941	99.27	gold quality
cortical plate	UBERON:0005343	99.20	gold quality
corpus callosum	UBERON:0002336	99.18	gold quality
lateral globus pallidus	UBERON:0002476	99.06	gold quality
substantia nigra pars reticulata	UBERON:0001966	99.00	gold quality
endothelial cell	CL:0000115	98.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.81	gold quality
medulla oblongata	UBERON:0001896	98.80	gold quality
CA1 field of hippocampus	UBERON:0003881	98.78	gold quality
spinal cord	UBERON:0002240	98.67	gold quality
midbrain	UBERON:0001891	98.66	gold quality
substantia nigra	UBERON:0002038	98.66	gold quality
superior vestibular nucleus	UBERON:0007227	98.66	gold quality
inferior olivary complex	UBERON:0002127	98.59	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	98.55	gold quality
substantia nigra pars compacta	UBERON:0001965	98.50	gold quality
dorsal plus ventral thalamus	UBERON:0001897	98.46	gold quality
ventral tegmental area	UBERON:0002691	98.43	gold quality
pons	UBERON:0000988	98.42	gold quality
Ammon’s horn	UBERON:0001954	98.34	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.17	gold quality
amygdala	UBERON:0001876	98.05	gold quality
postcentral gyrus	UBERON:0002581	97.87	gold quality
parietal lobe	UBERON:0001872	97.85	gold quality
putamen	UBERON:0001874	97.75	gold quality
temporal lobe	UBERON:0001871	97.61	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	112.66
E-HCAD-25	yes	52.87
E-HCAD-5	yes	42.41
E-HCAD-13	yes	22.13
E-HCAD-1	yes	20.77
E-MTAB-6701	yes	18.72
E-CURD-112	yes	16.83
E-ANND-3	yes	11.89
E-GEOD-84465	yes	9.92
E-MTAB-6678	yes	9.52
E-CURD-88	yes	9.15
E-MTAB-10042	yes	8.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

170 targeting SHTN1, 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-9-5P	100.00	72.28	2361
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-218-5P	99.93	72.22	2103

Literature-anchored findings (GeneRIF, showing 3)

• Rnaset2 inhibits melanocyte outgrowth through interacting with shootin1, and this effect may be associated with vitiligo pathogenesis. (PMID:26293343)
• SHTN1 might be associated with the development of nonsyndromic cleft lip with or without cleft palate. (PMID:30411541)
• Putative Coiled-Coil Domain-Dependent Autoinhibition and Alternative Splicing Determine SHTN1’s Actin-Binding Activity. (PMID:32371045)

Cross-species orthologs

8 orthologs

Organism	Symbol	Gene ID
danio_rerio	shtn1	ENSDARG00000039697
mus_musculus	Shtn1	ENSMUSG00000041362
rattus_norvegicus	Shtn1	ENSRNOG00000018350
drosophila_melanogaster	Frl	FBGN0267795
caenorhabditis_elegans		WBGENE00018976
caenorhabditis_elegans		WBGENE00019030
caenorhabditis_elegans	sydn-1	WBGENE00021473
caenorhabditis_elegans		WBGENE00021698

Paralogs (18): DAAM1 (ENSG00000100592), FNBP4 (ENSG00000109920), DIAPH1 (ENSG00000131504), FHOD3 (ENSG00000134775), FHOD1 (ENSG00000135723), FHDC1 (ENSG00000137460), DIAPH3 (ENSG00000139734), DAAM2 (ENSG00000146122), DIAPH2 (ENSG00000147202), FMN2 (ENSG00000155816), FMNL2 (ENSG00000157827), FMNL3 (ENSG00000161791), FMNL1 (ENSG00000184922), FAM47A (ENSG00000185448), FAM47B (ENSG00000189132), FAM47C (ENSG00000198173), INF2 (ENSG00000203485), GRID2IP (ENSG00000215045)

Protein

Protein identifiers

Shootin-1 — A0MZ66 (reviewed: A0MZ66)

Alternative names: Shootin1

All UniProt accessions (1): A0MZ66

UniProt curated annotations — full annotation on UniProt →

Function. Involved in the generation of internal asymmetric signals required for neuronal polarization and neurite outgrowth. Mediates netrin-1-induced F-actin-substrate coupling or ‘clutch engagement’ within the axon growth cone through activation of CDC42, RAC1 and PAK1-dependent signaling pathway, thereby converting the F-actin retrograde flow into traction forces, concomitantly with filopodium extension and axon outgrowth. Plays a role in cytoskeletal organization by regulating the subcellular localization of phosphoinositide 3-kinase (PI3K) activity at the axonal growth cone. Also plays a role in regenerative neurite outgrowth. In the developing cortex, cooperates with KIF20B to promote both the transition from the multipolar to the bipolar stage and the radial migration of cortical neurons from the ventricular zone toward the superficial layer of the neocortex. Involved in the accumulation of phosphatidylinositol 3,4,5-trisphosphate (PIP3) in the growth cone of primary hippocampal neurons.

Subunit / interactions. Interacts with L1CAM; this interaction occurs in axonal growth cones. Interacts with actin filament retrograde flow; this interaction is enhanced in a netrin-1- and PAK1-dependent manner and promotes F-actin-substrate coupling and concomitant formation of traction forces at axonal growth cones. Interacts with RUFY3. Interacts with PFN2. Interacts (via N-terminus) with KIF20B; this interaction is direct and promotes the association of SHTN1 to microtubules in primary neurons. Associates with microtubule.

Subcellular location. Perikaryon. Cell projection. Axon. Growth cone. Cytoplasm. Cytoskeleton. Filopodium. Lamellipodium.

Post-translational modifications. Phosphorylated on Ser-101 and Ser-249 by PAK1 through a CDC42- and RAC1-dependent signaling pathway, which enhances its association with F-actin retrograde flow in filopodia and lamellipodia of axonal growth cones. Phosphorylation on Ser-101 and Ser-249 is increased by netrin-1.

Domain organisation. The N-terminus region is necessary for interaction with actin retrograde filament flow and accumulation in neuronal growth cones.

Similarity. Belongs to the shootin family.

Isoforms (8)

UniProt ID	Names	Canonical?
A0MZ66-1	1	yes
A0MZ66-2	2
A0MZ66-3	3
A0MZ66-4	4
A0MZ66-5	5
A0MZ66-6	6
A0MZ66-7	7
A0MZ66-8	8

RefSeq proteins (5): NP_001120683, NP_001245227, NP_001245228, NP_001245229, NP_060800 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024849	Shootin-1	Family

UniProt features (35 total): modified residue 15, splice variant 7, compositionally biased region 6, region of interest 3, sequence conflict 2, chain 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0MZ66-F1	72.03	0.42

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 (15): 1, 3, 4, 101, 249, 375, 473, 487, 494, 496, 506, 515, 532, 534, 537

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-437239	Recycling pathway of L1
R-HSA-1266738	Developmental Biology
R-HSA-373760	L1CAM interactions
R-HSA-422475	Axon guidance
R-HSA-9675108	Nervous system development

MSigDB gene sets: 258 (showing top): GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, ACTGCAG_MIR173P, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_ESTABLISHMENT_OF_CELL_POLARITY, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, ONKEN_UVEAL_MELANOMA_UP, GOBP_POSITIVE_REGULATION_OF_CELL_GROWTH, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION

GO Biological Process (13): substrate-dependent cell migration, cell extension (GO:0006930), Ras protein signal transduction (GO:0007265), axonogenesis (GO:0007409), Cdc42 protein signal transduction (GO:0032488), netrin-activated signaling pathway (GO:0038007), positive regulation of axon extension (GO:0045773), neuron projection morphogenesis (GO:0048812), cytoplasmic actin-based contraction involved in cell motility (GO:0060327), endoplasmic reticulum polarization (GO:0061163), actin filament bundle retrograde transport (GO:0061573), regulation of establishment of cell polarity (GO:2000114), positive regulation of neuron migration (GO:2001224), regulation of neuron migration (GO:2001222)

GO Molecular Function (5): kinesin binding (GO:0019894), identical protein binding (GO:0042802), cadherin binding (GO:0045296), actin filament binding (GO:0051015), protein binding (GO:0005515)

GO Cellular Component (14): cytoplasm (GO:0005737), microtubule (GO:0005874), microtubule associated complex (GO:0005875), microtubule cytoskeleton (GO:0015630), lamellipodium (GO:0030027), filopodium (GO:0030175), axon (GO:0030424), growth cone (GO:0030426), cell leading edge (GO:0031252), perikaryon (GO:0043204), axonal growth cone (GO:0044295), perinuclear region of cytoplasm (GO:0048471), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
L1CAM interactions	1
Axon guidance	1
Nervous system development	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
neuron migration	2
microtubule cytoskeleton	2
substrate-dependent cell migration	1
plasma membrane bounded cell projection assembly	1
small GTPase-mediated signal transduction	1
cell morphogenesis involved in neuron differentiation	1
neuron projection morphogenesis	1
axon development	1
Rho protein signal transduction	1
cell surface receptor signaling pathway	1
positive regulation of cell growth	1
regulation of axon extension	1
positive regulation of developmental growth	1
axon extension	1
positive regulation of axonogenesis	1
neuron projection development	1
plasma membrane bounded cell projection morphogenesis	1
cell motility	1
actin-mediated cell contraction	1
endoplasmic reticulum organization	1
actin filament bundle distribution	1
establishment of cell polarity	1
regulation of establishment or maintenance of cell polarity	1
positive regulation of cell migration	1
regulation of neuron migration	1
regulation of cell migration	1
cytoskeletal protein binding	1
protein binding	1
cell adhesion molecule binding	1
actin binding	1
protein-containing complex binding	1
binding	1
intracellular anatomical structure	1
polymeric cytoskeletal fiber	1
protein-containing complex	1
cytoskeleton	1
cell leading edge	1
plasma membrane bounded cell projection	1
actin-based cell projection	1

Protein interactions and networks

STRING

1052 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SHTN1	RUFY3	Q7L099	966
SHTN1	L1CAM	P32004	810
SHTN1	HCLS1	P14317	618
SHTN1	CTTN	Q14247	604
SHTN1	BICC1	Q9H694	588
SHTN1	TACC3	Q9Y6A5	569
SHTN1	KIF20B	Q96Q89	525
SHTN1	PPHLN1	Q8NEY8	515
SHTN1	KIF5C	O60282	508
SHTN1	LNX1	Q8TBB1	506
SHTN1	PIK3CG	P48736	503
SHTN1	AHCYL1	O43865	492
SHTN1	HSPA12A	O43301	463
SHTN1	CCDC186	Q7Z3E2	445
SHTN1	FGFR2	P18443	436

IntAct

83 interactions, top by confidence:

A	B	Type	Score
MED4	MED19	psi-mi:“MI:2364”(proximity)	0.900
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SHTN1	FABP3	psi-mi:“MI:0915”(physical association)	0.560
SHTN1	ESRRG	psi-mi:“MI:0915”(physical association)	0.560
SHTN1	IGL@	psi-mi:“MI:0915”(physical association)	0.560
NME7	SHTN1	psi-mi:“MI:0915”(physical association)	0.560
FABP3	SHTN1	psi-mi:“MI:0915”(physical association)	0.560
SHTN1	NME7	psi-mi:“MI:0915”(physical association)	0.560
IGL@	SHTN1	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
YWHAB	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAE	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	SHTN1	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
SHTN1	ARL6IP5	psi-mi:“MI:0915”(physical association)	0.400
SHTN1	PRAF2	psi-mi:“MI:0915”(physical association)	0.400
SHTN1	SHTN1	psi-mi:“MI:0915”(physical association)	0.370
MEGF10	SHTN1	psi-mi:“MI:0915”(physical association)	0.370
ECE1	SHTN1	psi-mi:“MI:0915”(physical association)	0.370
Kif20b	SHTN1	psi-mi:“MI:0914”(association)	0.350
BFRF1A	SHTN1	psi-mi:“MI:0914”(association)	0.350
PB2		psi-mi:“MI:0914”(association)	0.350

BioGRID (171): KIAA1598 (Two-hybrid), KIAA1598 (Two-hybrid), KIAA1598 (Two-hybrid), KIAA1598 (Two-hybrid), KIAA1598 (Two-hybrid), KIAA1598 (Two-hybrid), KIAA1598 (Two-hybrid), KIAA1598 (Affinity Capture-MS), KIAA1598 (Co-fractionation), KIAA1598 (Affinity Capture-MS), KIAA1598 (Proximity Label-MS), KIAA1598 (Affinity Capture-MS), KIAA1598 (Proximity Label-MS), KIAA1598 (Affinity Capture-MS), KIAA1598 (Affinity Capture-MS)

ESM2 similar proteins: A0MZ66, A0MZ67, A6PWD2, A7MD70, B3DLE8, B9EKI3, F7DP49, O35550, O35551, O45420, P82094, Q05D60, Q08DR9, Q15276, Q28IH8, Q3KR99, Q3UIJ9, Q4L180, Q4R7H3, Q4V7C8, Q53EZ4, Q5BIX7, Q5R923, Q5RA03, Q5RI56, Q5U3Z6, Q6NRC9, Q6NRW2, Q6P0R8, Q6P402, Q6P6L0, Q7YS99, Q7Z7B0, Q861Q8, Q8BT07, Q8BVC4, Q8K2Q9, Q8K3K8, Q8K4T4, Q8R5M4

Diamond homologs: A0MZ66, A0MZ67, Q5RA03, Q6P0R8, Q8K2Q9

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
Activation of BAD and translocation to mitochondria	7	118.4×	1e-11
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	7	104.5×	2e-11
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	7	104.5×	2e-11
Activation of BH3-only proteins	7	77.2×	2e-10
RHO GTPases activate PKNs	7	49.4×	3e-09
Intrinsic Pathway for Apoptosis	7	45.5×	5e-09
FOXO-mediated transcription	5	37.3×	3e-06
Apoptosis	9	33.6×	3e-10

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	32.7×	1e-04
intracellular protein localization	8	14.9×	3e-05

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: activating (oncogene-like) across 1 cancer types — PLMESO.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4029 predictions. Top by Δscore:

Variant	Effect	Δscore
10:116906570:A:AC	donor_gain	1.0000
10:116906571:G:C	donor_gain	1.0000
10:116906625:A:AC	donor_gain	1.0000
10:116906626:C:CC	donor_gain	1.0000
10:116906626:CTA:C	donor_gain	1.0000
10:116911784:TCTTA:T	donor_loss	1.0000
10:116911785:CTTA:C	donor_loss	1.0000
10:116911786:TTA:T	donor_loss	1.0000
10:116911787:TACC:T	donor_loss	1.0000
10:116911788:A:T	donor_loss	1.0000
10:116911789:C:T	donor_loss	1.0000
10:116911844:C:CC	acceptor_gain	1.0000
10:116915369:CCATA:C	donor_loss	1.0000
10:116915370:CATAC:C	donor_loss	1.0000
10:116915371:ATAC:A	donor_loss	1.0000
10:116915372:TACC:T	donor_loss	1.0000
10:116915481:TCAG:T	acceptor_gain	1.0000
10:116915482:CAG:C	acceptor_gain	1.0000
10:116915482:CAGC:C	acceptor_gain	1.0000
10:116915483:AG:A	acceptor_gain	1.0000
10:116915483:AGC:A	acceptor_loss	1.0000
10:116915485:C:CC	acceptor_gain	1.0000
10:116915485:CTGTT:C	acceptor_loss	1.0000
10:116915486:T:A	acceptor_loss	1.0000
10:116921432:A:AC	donor_gain	1.0000
10:116921433:C:CC	donor_gain	1.0000
10:116921517:C:CC	acceptor_gain	1.0000
10:116921518:T:C	acceptor_gain	1.0000
10:116927892:C:CC	acceptor_gain	1.0000
10:116929826:AGTAG:A	donor_gain	1.0000

AlphaMissense

4192 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:116915430:A:C	I417S	1.000
10:116915430:A:G	I417T	1.000
10:116915430:A:T	I417N	1.000
10:116915442:A:G	M413T	1.000
10:116960164:C:G	R80P	1.000
10:116915408:T:A	R424S	0.999
10:116915408:T:G	R424S	0.999
10:116915412:A:G	L423P	0.999
10:116915412:A:T	L423H	0.999
10:116915432:T:A	R416S	0.999
10:116915432:T:G	R416S	0.999
10:116915442:A:C	M413R	0.999
10:116915442:A:T	M413K	0.999
10:116915451:A:T	V410D	0.999
10:116944952:C:G	R228P	0.999
10:116954175:G:C	S101R	0.999
10:116954175:G:T	S101R	0.999
10:116954177:T:G	S101R	0.999
10:116954209:A:G	L90P	0.999
10:116960144:C:G	A87P	0.999
10:116960155:G:T	A83D	0.999
10:116960156:C:G	A83P	0.999
10:116960185:A:G	L73P	0.999
10:116968682:C:G	A48P	0.999
10:116968690:C:G	R45P	0.999
10:116906655:T:A	R484S	0.998
10:116906655:T:G	R484S	0.998
10:116911803:A:G	L449P	0.998
10:116915421:C:T	G420E	0.998
10:116915422:C:G	G420R	0.998

dbSNP variants (sampled 300 via entrez): RS1000008908 (10:117126816 G>C), RS1000028863 (10:117047485 C>T), RS1000075221 (10:117082454 A>C), RS1000082860 (10:117041549 T>C,G), RS1000087194 (10:116993603 C>T), RS1000095819 (10:117040170 T>C,G), RS1000097753 (10:117094459 A>G), RS1000122618 (10:117097525 A>G), RS1000124698 (10:117047865 C>T), RS1000129841 (10:117033893 G>A), RS1000162194 (10:117048254 A>G,T), RS1000177025 (10:116958228 G>C), RS1000203029 (10:117072384 A>G), RS1000203412 (10:117114464 T>C), RS1000209117 (10:116999071 C>A)

Disease associations

OMIM: gene MIM:611171 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000104_1	Heart failure	9.000000e-06
GCST000547_5	Orofacial clefts	2.000000e-08
GCST003542_200	Night sleep phenotypes	4.000000e-06
GCST008926_3	Lysophosphatidylethanolamine levels	3.000000e-08
GCST009184_5	Inferior parietal cortex volume	1.000000e-06
GCST010703_309	Brain morphology (MOSTest)	2.000000e-25
GCST011616_20	Cortical volume	5.000000e-11
GCST011617_39	Cortical surface area	1.000000e-11
GCST90000047_211	Age at first sexual intercourse	5.000000e-13

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip
EFO:0010225	lysophosphatidylethanolamine 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
trichostatin A	increases expression	2
mercuric bromide	affects cotreatment, increases expression	2
Arsenic Trioxide	increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	increases phosphorylation	1
dicrotophos	increases expression	1
arsenite	affects binding, decreases reaction	1
sodium bichromate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	affects phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
entinostat	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
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Caffeine	affects phosphorylation	1
Catechin	affects cotreatment, decreases expression	1
Coal	decreases expression, increases abundance	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1

Clinical trials (associated diseases)

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