EVL

Summary

EVL (Enah/Vasp-like, HGNC:20234) is a protein-coding gene on chromosome 14q32.2, encoding Ena/VASP-like protein (Q9UI08). Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells.

Predicted to enable SH3 domain binding activity and profilin binding activity. Involved in negative regulation of epithelial cell migration; negative regulation of ruffle assembly; and positive regulation of stress fiber assembly. Located in membrane.

Source: NCBI Gene 51466 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 62 total
• MANE Select transcript: NM_016337

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20234
Approved symbol	EVL
Name	Enah/Vasp-like
Location	14q32.2
Locus type	gene with protein product
Status	Approved
Aliases	RNB6
Ensembl gene	ENSG00000196405
Ensembl biotype	protein_coding
OMIM	616912
Entrez	51466

Gene structure

Transcript identifiers

Ensembl transcripts: 25 — 9 protein_coding, 7 protein_coding_CDS_not_defined, 6 retained_intron, 3 nonsense_mediated_decay

ENST00000392920, ENST00000402714, ENST00000544450, ENST00000553694, ENST00000553771, ENST00000553799, ENST00000553875, ENST00000553910, ENST00000554031, ENST00000554045, ENST00000554460, ENST00000554518, ENST00000554695, ENST00000555048, ENST00000555606, ENST00000555706, ENST00000555848, ENST00000555999, ENST00000556258, ENST00000556921, ENST00000557023, ENST00000557153, ENST00000557384, ENST00000557637, ENST00000873444

RefSeq mRNA: 2 — MANE Select: NM_016337 NM_001330221, NM_016337

CCDS: CCDS81851, CCDS9955

Canonical transcript exons

ENST00000392920 — 14 exons

Exon	Start	End
ENSE00002495415	100065422	100065511
ENSE00002501161	100143701	100144236
ENSE00003474713	100129563	100129684
ENSE00003484927	100123539	100123602
ENSE00003495618	100137740	100137802
ENSE00003505548	100084687	100084855
ENSE00003533216	100141180	100141246
ENSE00003549997	100126707	100126771
ENSE00003566998	100097481	100097658
ENSE00003593138	100141736	100141793
ENSE00003667951	100128519	100128748
ENSE00003674886	100137578	100137644
ENSE00003685384	100132719	100132779
ENSE00003788924	100135905	100135968

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 99.46.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 110.9444 / max 2026.1141, expressed in 1802 samples.

FANTOM5 promoters (34 alternative TSS)

Promoter ID	TPM avg	Samples expressed
141430	44.2614	504
141415	25.8649	1686
141406	16.4481	1713
141409	3.1537	815
141413	2.5899	1094
141421	2.4729	347
141408	2.0580	818
141407	1.9256	538
141414	1.4117	685
141428	1.1858	310

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.46	gold quality
cortical plate	UBERON:0005343	99.40	gold quality
right hemisphere of cerebellum	UBERON:0014890	99.36	gold quality
cerebellar hemisphere	UBERON:0002245	99.32	gold quality
cerebellar cortex	UBERON:0002129	99.29	gold quality
ganglionic eminence	UBERON:0004023	99.27	gold quality
right frontal lobe	UBERON:0002810	99.16	gold quality
anterior cingulate cortex	UBERON:0009835	99.00	gold quality
cingulate cortex	UBERON:0003027	98.99	gold quality
cerebellum	UBERON:0002037	98.82	gold quality
lymph node	UBERON:0000029	98.78	gold quality
nucleus accumbens	UBERON:0001882	98.71	gold quality
prefrontal cortex	UBERON:0000451	98.68	gold quality
caudate nucleus	UBERON:0001873	98.54	gold quality
adenohypophysis	UBERON:0002196	98.54	gold quality
spleen	UBERON:0002106	98.47	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.44	gold quality
amygdala	UBERON:0001876	98.38	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.36	gold quality
putamen	UBERON:0001874	98.24	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.12	gold quality
neocortex	UBERON:0001950	98.10	gold quality
pituitary gland	UBERON:0000007	98.04	gold quality
frontal cortex	UBERON:0001870	97.97	gold quality
vermiform appendix	UBERON:0001154	97.96	gold quality
left uterine tube	UBERON:0001303	97.84	gold quality
thymus	UBERON:0002370	97.78	gold quality
right lobe of liver	UBERON:0001114	97.68	gold quality
telencephalon	UBERON:0001893	97.62	gold quality
forebrain	UBERON:0001890	97.58	gold quality

Single-cell (SCXA)

Detected in 27 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-MTAB-9906	yes	1092.79
E-MTAB-9154	yes	987.50
E-HCAD-8	yes	435.70
E-MTAB-6701	yes	136.34
E-HCAD-1	yes	107.67
E-HCAD-4	yes	103.53
E-MTAB-8142	yes	87.83
E-MTAB-10553	yes	49.16
E-MTAB-9221	yes	48.40
E-CURD-122	yes	48.37
E-MTAB-10287	yes	41.67
E-MTAB-8410	yes	39.52
E-CURD-88	yes	37.76
E-CURD-46	yes	36.35
E-HCAD-10	yes	27.25

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 14)

• Ena/VASP proteins regulate actin polymerization at actin filament barbed ends in vitro in the presence and absence of barbed end capping proteins. (PMID:15939738)
• the interaction of the alphaII-spectrin SH3 domain with EVL (PMID:16336193)
• Data suggest that ena/VASP binding to F-actin allows for gephyrin recruitment to the leading edge of uncapped actin filaments. (PMID:16376568)
• EVL is required for endothelial barrier function in vivo. (PMID:17998398)
• A microRNA encoded in an intron of the gene EVL, is commonly suppressed in human colorectal cancer. (PMID:18264139)
• EVL may be implicated in invasion and/or metastasis of human breast cancer. (PMID:18357390)
• EVL protein is a novel recombination factor that may be required for repairing specific DNA lesions, and that may cause tumor malignancy by its inappropriate expression. (PMID:19329439)
• EVH2 domain, which is highly conserved among the ENA/VASP family proteins, may be responsible for the recombination function of EVL. (PMID:19725871)
• EVL, with either E. coli topoisomerase I or human topoisomerase IIIalpha, catalyzed ssDNA catenation. (PMID:20639531)
• ENA/VASP-family proteins are functionally redundant in homologous recombination, and MENA, VASP and EVL may be involved in the DSB repair pathway in humans (PMID:21398369)
• Identify CRMP-1 as a novel regulator of actin filament elongation and reveal a surprisingly important role for CRMP-1, EVL, and actin polymerization in maintaining the structural integrity of epithelial sheets. (PMID:28630144)
• EVL/miR-342 methylation was preferentially detected in IgD multiple myeloma (PMID:29242101)
• Exercise effects on DNA methylation in EVL, CDKN2A (p14, ARF), and ESR1 in colon tissue from healthy men and women. (PMID:34550860)
• Elevated EVL Methylation Level in the Normal Colon Mucosa Is a Potential Risk Biomarker for Developing Recurrent Adenomas. (PMID:37294695)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	evla	ENSDARG00000035650
danio_rerio	evlb	ENSDARG00000099720
mus_musculus	Evl	ENSMUSG00000021262
rattus_norvegicus	Evl	ENSRNOG00000014476
drosophila_melanogaster	ena	FBGN0000578
drosophila_melanogaster	Spred	FBGN0020767
caenorhabditis_elegans		WBGENE00006770

Paralogs (5): VASP (ENSG00000125753), ENAH (ENSG00000154380), SPRED1 (ENSG00000166068), SPRED3 (ENSG00000188766), SPRED2 (ENSG00000198369)

Protein

Protein identifiers

Ena/VASP-like protein — Q9UI08 (reviewed: Q9UI08)

Alternative names: Ena/vasodilator-stimulated phosphoprotein-like

All UniProt accessions (10): A0A024R6K5, A0A087WYI2, Q9UI08, G3V2K5, G3V314, G3V3G2, G3V535, G3V5F7, H0YJL6, H0YJN0

UniProt curated annotations — full annotation on UniProt →

Function. Ena/VASP proteins are actin-associated proteins involved in a range of processes dependent on cytoskeleton remodeling and cell polarity such as axon guidance and lamellipodial and filopodial dynamics in migrating cells. EVL enhances actin nucleation and polymerization.

Subunit / interactions. Homotetramer. Binds to the SH3 domains of ABL1, LYN and SRC. Also binds to profilin, with preference for isoform IIa of PFN2, and the WW domain of APBB1/FE65. Binds to SEMA6A. Interacts, via the Pro-rich region, with the C-terminal SH3 domain of DNMBP. Interacts with RAPH1. Binds, via the EVH1 domain, the Pro-rich domain of Listeria monocytogenes actA. Binds, via the EVH1 domain, the Pro-rich domain of ZYX. Interacts with FYB1. Interacts with ZDHHC17.

Subcellular location. Cytoplasm. Cytoskeleton. Stress fiber. Cell projection. Lamellipodium.

Post-translational modifications. Phosphorylated by PKA; phosphorylation abolishes binding to SH3 domains of ABL and SRC.

Domain organisation. The EVH2 domain is comprised of 3 regions. Block A is a thymosin-like domain required for G-actin binding. The KLKR motif within this block is essential for the G-actin binding and for actin polymerization. Block B is required for F-actin binding and subcellular location, and Block C for tetramerization.

Miscellaneous. Required to transform actin polymerization into active movement for the propulsive force of Listeria monocytogenes.

Similarity. Belongs to the Ena/VASP family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q9UI08-1	2, EVL-I	yes
Q9UI08-2	1
Q9UI08-3	3
Q9UI08-4	4
Q9UI08-5	5

RefSeq proteins (2): NP_001317150, NP_057421* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000697	WH1/EVH1_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR014885	VASP_tetra	Domain
IPR017354	VASP/EVL	Family
IPR038023	VASP_sf	Homologous_superfamily

Pfam: PF00568, PF08776

UniProt features (38 total): modified residue 11, compositionally biased region 7, region of interest 7, splice variant 5, sequence conflict 3, sequence variant 2, chain 1, domain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UI08-F1	70.93	0.35

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 (11): 130, 246, 259, 304, 306, 329, 331, 341, 349, 354, 369

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-202433	Generation of second messenger molecules
R-HSA-376176	Signaling by ROBO receptors
R-HSA-5663220	RHO GTPases Activate Formins

MSigDB gene sets: 383 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_ACTIN_FILAMENT_BUNDLE_ORGANIZATION, YANG_BREAST_CANCER_ESR1_LASER_UP, GOBP_PROTEIN_HOMOTETRAMERIZATION, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, PAL_PRMT5_TARGETS_UP, GOZGIT_ESR1_TARGETS_DN, GOBP_REGULATION_OF_EPITHELIAL_CELL_MIGRATION, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_REGULATION_OF_RUFFLE_ASSEMBLY, GOBP_NEUROGENESIS, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS

GO Biological Process (15): actin filament organization (GO:0007015), cell surface receptor signaling pathway (GO:0007166), nervous system development (GO:0007399), axon guidance (GO:0007411), actin polymerization or depolymerization (GO:0008154), animal organ morphogenesis (GO:0009887), negative regulation of epithelial cell migration (GO:0010633), positive regulation of actin filament polymerization (GO:0030838), protein homotetramerization (GO:0051289), positive regulation of stress fiber assembly (GO:0051496), negative regulation of ruffle assembly (GO:1900028), positive regulation of cellular component biogenesis (GO:0044089), positive regulation of cytoskeleton organization (GO:0051495), regulation of actin filament organization (GO:0110053), positive regulation of supramolecular fiber organization (GO:1902905)

GO Molecular Function (4): actin binding (GO:0003779), profilin binding (GO:0005522), SH3 domain binding (GO:0017124), protein binding (GO:0005515)

GO Cellular Component (9): stress fiber (GO:0001725), cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), focal adhesion (GO:0005925), membrane (GO:0016020), lamellipodium (GO:0030027), cytoskeleton (GO:0005856), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
TCR signaling	1
Axon guidance	1
RHO GTPase Effectors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
supramolecular fiber organization	2
actin filament organization	2
regulation of supramolecular fiber organization	2
actin cytoskeleton organization	1
signal transduction	1
system development	1
axonogenesis	1
neuron projection guidance	1
anatomical structure morphogenesis	1
animal organ development	1
epithelial cell migration	1
regulation of epithelial cell migration	1
negative regulation of cell migration	1
negative regulation of multicellular organismal process	1
actin filament polymerization	1
regulation of actin filament polymerization	1
positive regulation of protein polymerization	1
positive regulation of cytoskeleton organization	1
positive regulation of supramolecular fiber organization	1
protein homooligomerization	1
protein tetramerization	1
positive regulation of actin filament bundle assembly	1
stress fiber assembly	1
regulation of stress fiber assembly	1
ruffle assembly	1
negative regulation of plasma membrane bounded cell projection assembly	1
regulation of ruffle assembly	1
cellular component biogenesis	1
regulation of cellular component biogenesis	1
positive regulation of cellular process	1
cytoskeleton organization	1
positive regulation of organelle organization	1
regulation of cytoskeleton organization	1
regulation of actin cytoskeleton organization	1
positive regulation of cellular component organization	1
cytoskeletal protein binding	1
protein binding	1
protein domain specific binding	1
binding	1

Protein interactions and networks

STRING

984 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EVL	SEMA6A	Q9H2E6	855
EVL	SEMA6B	Q9H3T3	833
EVL	ZYX	Q15942	708
EVL	PLXNA4	Q9HCM2	637
EVL	PLXNA2	O75051	616
EVL	SRC	P12931	605
EVL	APBB1IP	Q7Z5R6	556
EVL	IQSEC3	Q9UPP2	515
EVL	WLS	Q5T9L3	489
EVL	PICALM	Q13492	479
EVL	DCC	P43146	474
EVL	VASP	P50552	468
EVL	APP	P05067	442
EVL	INSYN1	Q2T9L4	434
EVL	INSYN2A	Q6ZSG2	432

IntAct

46 interactions, top by confidence:

A	B	Type	Score
MRFAP1	MORF4L2	psi-mi:“MI:0914”(association)	0.950
ABI3	EVL	psi-mi:“MI:0915”(physical association)	0.670
EVL	ABI3	psi-mi:“MI:0915”(physical association)	0.670
SPTAN1	EVL	psi-mi:“MI:0915”(physical association)	0.590
EVL	SPTAN1	psi-mi:“MI:0915”(physical association)	0.590
EVL	SPTAN1	psi-mi:“MI:0407”(direct interaction)	0.590
TRIM9	EVL	psi-mi:“MI:0915”(physical association)	0.560
EVL	TRIM9	psi-mi:“MI:0915”(physical association)	0.560
VASP	GTPBP1	psi-mi:“MI:0914”(association)	0.530
TACC3	HSPA8	psi-mi:“MI:0914”(association)	0.530
NAP1L5	RPS2	psi-mi:“MI:0914”(association)	0.530
NECTIN4	EIF2B2	psi-mi:“MI:0914”(association)	0.530
ZYX	TBC1D10B	psi-mi:“MI:0914”(association)	0.530
EVL	VASP	psi-mi:“MI:0914”(association)	0.530
NHSL3	NCK2	psi-mi:“MI:0914”(association)	0.530
RAD51	EVL	psi-mi:“MI:0407”(direct interaction)	0.440
BAIAP2	EVL	psi-mi:“MI:0407”(direct interaction)	0.440
EVL	HCK	psi-mi:“MI:0915”(physical association)	0.400
EVL	EVL	psi-mi:“MI:0915”(physical association)	0.370
EVL	TERF1	psi-mi:“MI:0915”(physical association)	0.370
POT1	EVL	psi-mi:“MI:0915”(physical association)	0.370
EVL	ypkA	psi-mi:“MI:0915”(physical association)	0.370
EVL	FXR1	psi-mi:“MI:0915”(physical association)	0.370
EVL	FXR2	psi-mi:“MI:0915”(physical association)	0.370
CFTR	EVL	psi-mi:“MI:0915”(physical association)	0.370
EVL	HTT	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (109): EVL (Two-hybrid), EVL (Two-hybrid), TRIM9 (Two-hybrid), EVL (Two-hybrid), EVL (Affinity Capture-Western), EVL (Affinity Capture-MS), EVL (Affinity Capture-MS), EVL (Affinity Capture-MS), EVL (Co-fractionation), EVL (Co-fractionation), EVL (Affinity Capture-MS), EVL (Affinity Capture-MS), EVL (Affinity Capture-MS), EVL (Affinity Capture-MS), TRMT61A (Affinity Capture-MS)

ESM2 similar proteins: A4IG59, A7Z063, A8K0Z3, A8MWX3, B0BN56, B2RYF7, C4AMC7, E7EXT2, F1RCE7, O08719, O18195, O48713, O75061, P70429, P82925, P92204, Q08BD8, Q28DN4, Q28Y46, Q53HL2, Q54CK9, Q54NF8, Q561X3, Q5M8Y7, Q5R896, Q5RBS5, Q5U4A3, Q5XG48, Q5XLR4, Q5ZKA6, Q61733, Q68FU8, Q6AXW0, Q6DD45, Q6VEQ5, Q7JW27, Q7K2D2, Q8BHX3, Q8BYZ1, Q8CH02

Diamond homologs: O08719, P50551, P50552, P70429, P70460, Q03173, Q2TA49, Q3C2P8, Q5R896, Q5RDN2, Q5TJ65, Q5Y171, Q64GL0, Q6NYK3, Q7Z698, Q8N8S7, Q8T4F7, Q924S7, Q9UI08, Q2MJR0, Q6P6N5, Q9Z2X5, A2VDU1, O43610, Q3UUD2, Q66JG9, Q7Z699, Q924S8, Q9C004, Q9WTP2

SIGNOR signaling

5 interactions.

A	Effect	B	Mechanism
PKA	“up-regulates activity”	EVL	phosphorylation
PRKG1	“down-regulates activity”	EVL	phosphorylation
EVL	up-regulates	Axonal_growth_cone_formation
EVL	up-regulates	Neurite_outgrowth
RAPH1	“up-regulates activity”	EVL	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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
Signaling by ROBO receptors	6	20.7×	1e-04
Clathrin-mediated endocytosis	5	11.8×	4e-03
RHO GTPase cycle	5	8.3×	7e-03
Axon guidance	6	7.5×	5e-03
Nervous system development	6	7.2×	5e-03

GO biological processes:

GO term	Partners	Fold	FDR
positive regulation of actin filament polymerization	6	46.1×	2e-06
actin cytoskeleton organization	6	11.0×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	47
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3496 predictions. Top by Δscore:

Variant	Effect	Δscore
14:100084681:C:A	acceptor_gain	1.0000
14:100084685:A:AG	acceptor_gain	1.0000
14:100084686:G:GA	acceptor_gain	1.0000
14:100084686:GT:G	acceptor_gain	1.0000
14:100084852:GCAG:G	donor_gain	1.0000
14:100084853:CAG:C	donor_loss	1.0000
14:100084854:AGG:A	donor_loss	1.0000
14:100084856:GTCA:G	donor_loss	1.0000
14:100084857:T:G	donor_loss	1.0000
14:100097479:A:AG	acceptor_gain	1.0000
14:100097479:AG:A	acceptor_gain	1.0000
14:100097479:AGGTT:A	acceptor_gain	1.0000
14:100097480:G:GA	acceptor_gain	1.0000
14:100097480:GG:G	acceptor_gain	1.0000
14:100097480:GGT:G	acceptor_gain	1.0000
14:100097480:GGTT:G	acceptor_gain	1.0000
14:100097480:GGTTG:G	acceptor_gain	1.0000
14:100097654:AGGAG:A	donor_gain	1.0000
14:100097655:GGAG:G	donor_gain	1.0000
14:100097655:GGAGG:G	donor_gain	1.0000
14:100097656:GAG:G	donor_gain	1.0000
14:100097656:GAGG:G	donor_gain	1.0000
14:100097657:AG:A	donor_gain	1.0000
14:100097657:AGGTA:A	donor_loss	1.0000
14:100097658:GG:G	donor_gain	1.0000
14:100097659:G:GG	donor_gain	1.0000
14:100123537:A:AG	acceptor_gain	1.0000
14:100123538:G:GG	acceptor_gain	1.0000
14:100129558:CTCA:C	acceptor_loss	1.0000
14:100129559:TCA:T	acceptor_loss	1.0000

AlphaMissense

2729 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:100084712:G:C	A11P	1.000
14:100084713:C:A	A11D	1.000
14:100084719:T:A	V13E	1.000
14:100084722:T:A	M14K	1.000
14:100084722:T:C	M14T	1.000
14:100084722:T:G	M14R	1.000
14:100084723:G:A	M14I	1.000
14:100084723:G:C	M14I	1.000
14:100084723:G:T	M14I	1.000
14:100084727:T:A	Y16N	1.000
14:100084727:T:C	Y16H	1.000
14:100084727:T:G	Y16D	1.000
14:100084728:A:G	Y16C	1.000
14:100084748:T:A	W23R	1.000
14:100084748:T:C	W23R	1.000
14:100084749:G:C	W23S	1.000
14:100084750:G:C	W23C	1.000
14:100084750:G:T	W23C	1.000
14:100084781:A:C	S34R	1.000
14:100084783:C:A	S34R	1.000
14:100084783:C:G	S34R	1.000
14:100084788:T:A	I36N	1.000
14:100084794:T:A	I38N	1.000
14:100084794:T:G	I38S	1.000
14:100084796:T:G	Y39D	1.000
14:100084823:A:G	R48G	1.000
14:100084824:G:C	R48T	1.000
14:100084824:G:T	R48I	1.000
14:100084825:A:C	R48S	1.000
14:100084825:A:T	R48S	1.000

dbSNP variants (sampled 300 via entrez): RS1000001169 (14:100091048 A>G), RS1000017650 (14:100117818 T>C), RS1000028019 (14:100117965 A>T), RS1000051286 (14:100016119 A>T), RS1000064901 (14:100135446 A>C,G), RS1000065263 (14:100026149 G>A), RS1000065906 (14:99990871 G>A,C), RS1000074401 (14:100071852 G>A,C), RS1000083057 (14:100105953 G>A), RS1000112825 (14:100054650 G>A,C,T), RS1000127277 (14:99975015 C>T), RS1000145841 (14:99992242 G>A), RS1000158860 (14:99991836 C>T), RS1000173102 (14:100058061 G>A,C), RS1000189171 (14:99972563 G>T)

Disease associations

OMIM: gene MIM:616912 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST003013_10	White matter hyperintensity burden	3.000000e-07
GCST003013_24	White matter hyperintensity burden	2.000000e-06
GCST006585_2657	Blood protein levels	3.000000e-07
GCST010101_12	White matter hyperintensities	6.000000e-13

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005665	white matter hyperintensity measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	5
Aflatoxin B1	decreases expression, increases methylation, affects expression, affects methylation	4
Air Pollutants	affects expression, increases abundance, increases expression	3
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
cobaltous chloride	decreases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	increases methylation, affects expression	2
Cyclosporine	decreases expression	2
FR900359	affects phosphorylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
manganese chloride	increases abundance, affects cotreatment, decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
arsenic disulfide	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
pyrachlostrobin	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
picoxystrobin	decreases expression	1

Clinical trials (associated diseases)

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