FNBP1L

Summary

FNBP1L (formin binding protein 1 like, HGNC:20851) is a protein-coding gene on chromosome 1p22.1, encoding Formin-binding protein 1-like (Q5T0N5). Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis.

The protein encoded by this gene binds to both CDC42 and N-WASP. This protein promotes CDC42-induced actin polymerization by activating the N-WASP-WIP complex and, therefore, is involved in a pathway that links cell surface signals to the actin cytoskeleton. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 54874 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 75 total
• MANE Select transcript: NM_001164473

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20851
Approved symbol	FNBP1L
Name	formin binding protein 1 like
Location	1p22.1
Locus type	gene with protein product
Status	Approved
Aliases	TOCA1, FLJ20275
Ensembl gene	ENSG00000137942
Ensembl biotype	protein_coding
OMIM	608848
Entrez	54874

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 11 protein_coding, 1 retained_intron

ENST00000260506, ENST00000271234, ENST00000370253, ENST00000424449, ENST00000603526, ENST00000868903, ENST00000868904, ENST00000868905, ENST00000868906, ENST00000868907, ENST00000933414, ENST00000933415

RefSeq mRNA: 3 — MANE Select: NM_001164473 NM_001024948, NM_001164473, NM_017737

CCDS: CCDS53343, CCDS53344, CCDS60192

Canonical transcript exons

ENST00000271234 — 17 exons

Exon	Start	End
ENSE00000474626	93544107	93544216
ENSE00000777044	93532922	93533068
ENSE00000777047	93534705	93534908
ENSE00000831169	93549278	93549426
ENSE00000957805	93536332	93536490
ENSE00001067613	93530755	93530883
ENSE00001387765	93529652	93529756
ENSE00001390096	93550947	93551105
ENSE00001390894	93524261	93524323
ENSE00001616998	93499468	93499583
ENSE00001677571	93522082	93522135
ENSE00001806620	93523344	93523491
ENSE00001843587	93552409	93554661
ENSE00002292173	93541042	93541056
ENSE00003539418	93546842	93546974
ENSE00003659347	93547347	93547441
ENSE00003913137	93448118	93448305

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 99.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.7729 / max 499.4646, expressed in 1658 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4065	17.2712	1589
4064	4.7413	1297
4063	1.2758	659
4066	0.4847	262

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	99.06	gold quality
ganglionic eminence	UBERON:0004023	98.47	gold quality
amniotic fluid	UBERON:0000173	97.47	gold quality
ventricular zone	UBERON:0003053	97.06	gold quality
renal glomerulus	UBERON:0000074	96.74	gold quality
metanephric glomerulus	UBERON:0004736	96.47	gold quality
renal medulla	UBERON:0000362	96.24	gold quality
parotid gland	UBERON:0001831	96.22	gold quality
jejunal mucosa	UBERON:0000399	96.10	gold quality
visceral pleura	UBERON:0002401	95.97	gold quality
hair follicle	UBERON:0002073	95.81	gold quality
sperm	CL:0000019	95.56	gold quality
choroid plexus epithelium	UBERON:0003911	95.53	gold quality
germinal epithelium of ovary	UBERON:0001304	95.07	gold quality
endothelial cell	CL:0000115	94.48	gold quality
embryo	UBERON:0000922	94.28	gold quality
epithelium of mammary gland	UBERON:0003244	94.07	gold quality
cortex of kidney	UBERON:0001225	93.96	gold quality
mammary duct	UBERON:0001765	93.95	gold quality
endometrium	UBERON:0001295	93.37	gold quality
islet of Langerhans	UBERON:0000006	93.35	gold quality
kidney epithelium	UBERON:0004819	93.34	gold quality
nephron tubule	UBERON:0001231	93.31	gold quality
pleura	UBERON:0000977	93.14	gold quality
thoracic mammary gland	UBERON:0005200	93.12	gold quality
mammary gland	UBERON:0001911	93.11	gold quality
metanephros	UBERON:0000081	92.98	gold quality
jejunum	UBERON:0002115	92.87	gold quality
corpus epididymis	UBERON:0004359	92.61	gold quality
lower lobe of lung	UBERON:0008949	92.58	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-5	yes	16.54
E-ANND-3	yes	11.10
E-MTAB-6678	yes	6.62
E-GEOD-93593	no	11.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

85 targeting FNBP1L, 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-5193	100.00	67.26	1744
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4668-5P	99.79	70.58	3782

Literature-anchored findings (GeneRIF, showing 13)

• Toca-1 promotes actin nucleation by activating the N-WASP-WIP/CR16 complex, the predominant form of N-WASP in cells. (PMID:15260990)
• a vesicle trafficking regulator Toca-1 regulates different aspects of neuronal morphology from N-WASP (PMID:16885158)
• We show that actin tail initiation by S. flexneri requires Toca-1 for the conversion of N-WASP from a closed inactive conformation to an open active one. (PMID:18191793)
• the Toca-1-N-WASP complex can link filopodial formation to endocytosis (PMID:19213734)
• FNBP1L appears dispensable for other forms of autophagy induced by serum starvation or rapamycin (PMID:19342671)
• Human FNBP1L binds the autophagy protein Atg3 and is required for autophagy of Salmonella Typhimurium in epithelial cells (PMID:19342671)
• Cdc42 may influence endocytic membrane trafficking by regulating the formation and activity of the Toca-1/N-WASP complex. (PMID:20730103)
• Toca-1 knockdown cells also display a significant defect in EGF-induced motility and invasiveness. (PMID:21062739)
• findings suggest that Toca-1 functions at an early step in the dissemination of metastatic breast tumor cells; taken together, results identify Toca-1 as a proinvasive protein in breast adenocarcinoma (PMID:22824798)
• GWAS results show that the aggregate effects of common SNPs explain 22-46% of phenotypic variation in childhood intelligence in the three largest cohorts; FNBP1L was also significantly associated with childhood intelligence (PMID:23358156)
• Loss of p53 tumor suppressor function in breast cancers leads to upregulation of Toca-1, and results in enhanced risk of developing metastatic disease. (PMID:25547174)
• This suggests that TOCA1 binding to Cdc42 is an early step in the Cdc42-dependent pathways that govern actin dynamics, and the differential binding affinities of the effectors facilitate a handover from TOCA1 to N-WASP, which can then drive recruitment of the actin-modifying machinery. (PMID:27129201)
• During Shigella flexneri infection host protein Toca-1 precipitate not only the Shigella type 3 secreted effector protein IcsB, but also the type 3 secreted proteins OspC3, IpgD and IpaB. In infected cells, OspC3-mediated restriction of IL-18 production does not require the interaction with Toca-1. (PMID:29488864)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	fnbp1l	ENSDARG00000020131
mus_musculus	Fnbp1l	ENSMUSG00000039735
rattus_norvegicus	Fnbp1l	ENSRNOG00000013798
drosophila_melanogaster	Cip4	FBGN0035533
caenorhabditis_elegans		WBGENE00010663
caenorhabditis_elegans		WBGENE00017298

Paralogs (2): TRIP10 (ENSG00000125733), FNBP1 (ENSG00000187239)

Protein

Protein identifiers

Formin-binding protein 1-like — Q5T0N5 (reviewed: Q5T0N5)

Alternative names: Transducer of Cdc42-dependent actin assembly protein 1

All UniProt accessions (2): Q5T0N5, A0A075B6Q2

UniProt curated annotations — full annotation on UniProt →

Function. Required to coordinate membrane tubulation with reorganization of the actin cytoskeleton during endocytosis. May bind to lipids such as phosphatidylinositol 4,5-bisphosphate and phosphatidylserine and promote membrane invagination and the formation of tubules. Also promotes CDC42-induced actin polymerization by activating the WASL/N-WASP-WASPIP/WIP complex, the predominant form of WASL/N-WASP in cells. Actin polymerization may promote the fission of membrane tubules to form endocytic vesicles. Essential for autophagy of intracellular bacterial pathogens.

Subunit / interactions. Homodimerizes, the dimers can polymerize end-to-end to form filamentous structures. Interacts with GTP-bound CDC42. Interacts with DAAM1, DIAPH1, DIAPH2, DNM1, DNM2 and WASL/N-WASP. Interacts with ATG3. Interacts (via SH3 domain) with ABI1, WASF2, CDC42 and WIPF1.

Subcellular location. Cytoplasm. Cytoskeleton. Cell cortex. Cytoplasmic vesicle. Cell membrane.

Domain organisation. The F-BAR domain binds the phospholipid membrane with its concave surface. The end-to-end polymerization of dimers of these domains provides a curved surface that fits best membranes with around 600 A diameter, and may drive tubulation.

Similarity. Belongs to the FNBP1 family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q5T0N5-1	1	yes
Q5T0N5-2	2
Q5T0N5-3	3
Q5T0N5-4	4
Q5T0N5-5	5

RefSeq proteins (3): NP_001020119, NP_001157945, NP_060207 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001060	FCH_dom	Domain
IPR001452	SH3_domain	Domain
IPR011072	HR1_rho-bd	Domain
IPR027267	AH/BAR_dom_sf	Homologous_superfamily
IPR031160	F_BAR_dom	Domain
IPR035493	FNBP1L_SH3	Domain
IPR035494	FNBP1L_F-BAR	Domain
IPR036028	SH3-like_dom_sf	Homologous_superfamily
IPR057870	HR1_TOCA	Domain
IPR057871	HR1_CIP4_FNBP1L	Domain

Pfam: PF00018, PF00611, PF25610

UniProt features (23 total): region of interest 5, modified residue 4, domain 3, splice variant 3, coiled-coil region 2, compositionally biased region 2, mutagenesis site 2, chain 1, site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T0N5-F1	80.05	0.65

Functional residue map

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

Catalytic / active sites (1): 165 (mediates end-to-end attachment of dimers)

Post-translational modifications (4): 295, 488, 501, 505

Mutagenesis-validated functional residues (2):

Position	Phenotype
441–443	impairs interaction with cdc42 and reduces cdc42-induced actin assembly.
576	impairs interaction with wasl and reduces cdc42-induced actin assembly.

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8856828	Clathrin-mediated endocytosis
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle

MSigDB gene sets: 242 (showing top): AAGCAAT_MIR137, GOBP_VESICLE_LOCALIZATION, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_VESICLE_ORGANIZATION, TTTGTAG_MIR520D, MAZ_Q6, GOBP_PLASMA_MEMBRANE_ORGANIZATION, AREB6_01, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOMF_GTPASE_BINDING, ACTGCAG_MIR173P, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION

GO Biological Process (11): vesicle budding from membrane (GO:0006900), autophagy (GO:0006914), signal transduction (GO:0007165), membrane invagination (GO:0010324), vesicle organization (GO:0016050), vesicle transport along actin filament (GO:0030050), positive regulation of filopodium assembly (GO:0051491), cilium assembly (GO:0060271), clathrin-dependent endocytosis (GO:0072583), plasma membrane tubulation (GO:0097320), endocytosis (GO:0006897)

GO Molecular Function (4): lipid binding (GO:0008289), cadherin binding (GO:0045296), GTPase binding (GO:0051020), protein binding (GO:0005515)

GO Cellular Component (7): cytoplasm (GO:0005737), cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cell cortex (GO:0005938), cytoplasmic vesicle (GO:0031410), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	2
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	3
vesicle-mediated transport	2
membrane organization	2
binding	2
cell periphery	2
vesicle organization	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
organelle organization	1
actin filament-based movement	1
actin filament-based transport	1
vesicle cytoskeletal trafficking	1
filopodium assembly	1
regulation of filopodium assembly	1
positive regulation of plasma membrane bounded cell projection assembly	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
receptor-mediated endocytosis	1
plasma membrane organization	1
vesicle budding from membrane	1
membrane invagination	1
import into cell	1
cell adhesion molecule binding	1
enzyme binding	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
membrane	1

Protein interactions and networks

STRING

1098 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FNBP1L	CDC42	P21181	991
FNBP1L	WASL	O00401	990
FNBP1L	WIPF1	O43516	954
FNBP1L	ATG3	Q9NT62	885
FNBP1L	WAS	P42768	869
FNBP1L	ABI2	Q9NYB9	742
FNBP1L	BIN1	O00499	737
FNBP1L	BAIAP2	Q9UQB8	702
FNBP1L	SNX9	Q9Y5X1	682
FNBP1L	ABI1	Q8IZP0	660
FNBP1L	WASF1	Q92558	601
FNBP1L	AMPH	P49418	557
FNBP1L	FCHO2	Q0JRZ9	529
FNBP1L	PICALM	Q13492	529
FNBP1L	CFL2	Q9Y281	523

IntAct

36 interactions, top by confidence:

A	B	Type	Score
ATP6V1C2	ATP6V1G1	psi-mi:“MI:0914”(association)	0.640
ADAM8	FNBP1L	psi-mi:“MI:0407”(direct interaction)	0.560
ARHGAP44	VPS26A	psi-mi:“MI:0914”(association)	0.530
SH3PXD2A	FGD1	psi-mi:“MI:0914”(association)	0.530
FNBP1L	DAAM1	psi-mi:“MI:0915”(physical association)	0.520
FNBP1	FNBP1L	psi-mi:“MI:0914”(association)	0.500
FNBP1L	FNBP1	psi-mi:“MI:0915”(physical association)	0.500
ADAM19	FNBP1L	psi-mi:“MI:0407”(direct interaction)	0.440
FNBP1L	Diaph3	psi-mi:“MI:0915”(physical association)	0.400
Diaph1	FNBP1L	psi-mi:“MI:0915”(physical association)	0.400
RBPJ	SAMD1	psi-mi:“MI:0914”(association)	0.350
RBPJ	RPA2	psi-mi:“MI:0914”(association)	0.350
	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CDKN2A	NHERF1	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
CEP192	WASL	psi-mi:“MI:0914”(association)	0.350
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350
SBDS	RPL11	psi-mi:“MI:0914”(association)	0.350
SNX24	STRN	psi-mi:“MI:0914”(association)	0.350
HNRNPK	PLCG1	psi-mi:“MI:0914”(association)	0.350
NUBP1	YBEY	psi-mi:“MI:0914”(association)	0.350
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
FGFR1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
FGFR4	SH3PXD2B	psi-mi:“MI:2364”(proximity)	0.270
KCNK3	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (84): FNBP1L (Affinity Capture-RNA), FNBP1L (Affinity Capture-RNA), FNBP1L (Co-fractionation), FNBP1L (Co-fractionation), FNBP1L (Co-fractionation), PACSIN3 (Co-fractionation), SF3A1 (Co-fractionation), FNBP1L (Affinity Capture-MS), FNBP1L (Affinity Capture-MS), FNBP1L (Affinity Capture-MS), FNBP1L (Affinity Capture-MS), FNBP1L (Affinity Capture-MS), FNBP1L (Affinity Capture-MS), FNBP1L (Affinity Capture-MS), FNBP1L (Proximity Label-MS)

ESM2 similar proteins: A1A4L0, A6H6A9, B4F779, G5E8V9, O35382, O60890, O95219, P0CAX5, P53365, P53367, Q08DP6, Q28E02, Q3ZCL5, Q4V7P7, Q566W7, Q5EAD0, Q5R4C2, Q5RCW6, Q5T0N5, Q5VWJ9, Q5ZJ17, Q60437, Q62824, Q6AY65, Q6GMN2, Q6PCS4, Q6Y5D8, Q6ZQ82, Q7YQL5, Q7YQL6, Q80TY0, Q8BHY8, Q8BKX1, Q8CE50, Q8K221, Q8K3G9, Q8K3H0, Q8N6S4, Q8NEU8, Q8R511

Diamond homologs: P97531, Q09746, Q15642, Q2HWF0, Q4P3H6, Q5RCJ1, Q5T0N5, Q5U3Q6, Q6DCZ7, Q6GNV5, Q6GUF4, Q80TY0, Q8CJ53, Q8K012, Q8R511, Q96RU3, X2JAU8, A7E8B6, A7MBI0, F1LRS8, O15259, P32793, P34092, P34109, P35991, Q06187, Q557J6, Q5R411, Q61644, Q6CHN0, Q6PFY1, Q86WN1, Q9BY11, Q9JLQ0, Q9QY53, Q9Y5K6, Q9Y5X1, Q9Z0W5, O13154, Q91VH2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 44 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
CDC42 GTPase cycle	7	14.9×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	61
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

3241 predictions. Top by Δscore:

Variant	Effect	Δscore
1:93448302:GTGG:G	donor_gain	1.0000
1:93448304:GG:G	donor_gain	1.0000
1:93448305:GG:G	donor_gain	1.0000
1:93498237:G:GT	donor_gain	1.0000
1:93498255:G:GT	donor_gain	1.0000
1:93499463:TCCA:T	acceptor_loss	1.0000
1:93499466:A:AG	acceptor_gain	1.0000
1:93499466:AG:A	acceptor_gain	1.0000
1:93499467:G:GA	acceptor_gain	1.0000
1:93499467:GG:G	acceptor_gain	1.0000
1:93499467:GGA:G	acceptor_gain	1.0000
1:93499467:GGAT:G	acceptor_gain	1.0000
1:93499467:GGATC:G	acceptor_gain	1.0000
1:93499579:TTGAG:T	donor_gain	1.0000
1:93499580:TGAG:T	donor_gain	1.0000
1:93499580:TGAGG:T	donor_loss	1.0000
1:93499581:GAG:G	donor_gain	1.0000
1:93499581:GAGG:G	donor_gain	1.0000
1:93499581:GAGGT:G	donor_loss	1.0000
1:93499582:AG:A	donor_gain	1.0000
1:93499582:AGG:A	donor_loss	1.0000
1:93499583:GG:G	donor_gain	1.0000
1:93499584:G:GA	donor_loss	1.0000
1:93499584:G:GG	donor_gain	1.0000
1:93522076:CTATA:C	acceptor_loss	1.0000
1:93522077:TATA:T	acceptor_loss	1.0000
1:93522078:ATAG:A	acceptor_loss	1.0000
1:93522079:TAGAA:T	acceptor_loss	1.0000
1:93522080:A:AG	acceptor_gain	1.0000
1:93522080:AG:A	acceptor_loss	1.0000

AlphaMissense

4064 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:93499583:G:C	R47T	1.000
1:93522082:A:C	R47S	1.000
1:93522082:A:T	R47S	1.000
1:93522087:T:C	L49P	1.000
1:93523406:G:C	R86P	1.000
1:93523485:A:C	R112S	1.000
1:93523485:A:T	R112S	1.000
1:93529657:A:C	K137N	1.000
1:93529657:A:T	K137N	1.000
1:93529685:G:C	A147P	1.000
1:93530777:G:C	R178P	1.000
1:93530788:G:C	A182P	1.000
1:93530809:T:C	Y189H	1.000
1:93530809:T:G	Y189D	1.000
1:93530843:A:C	Q200P	1.000
1:93533023:T:G	C247W	1.000
1:93544135:T:C	L398P	1.000
1:93544162:T:C	L407P	1.000
1:93546859:T:C	M431T	1.000
1:93546892:G:A	G442E	1.000
1:93549397:G:A	G541E	1.000
1:93551006:G:C	D571H	1.000
1:93551018:G:A	G575R	1.000
1:93551018:G:C	G575R	1.000
1:93551019:G:A	G575E	1.000
1:93551021:T:A	W576R	1.000
1:93551021:T:C	W576R	1.000
1:93551022:G:C	W576S	1.000
1:93551023:G:C	W576C	1.000
1:93551023:G:T	W576C	1.000

dbSNP variants (sampled 300 via entrez): RS1000002822 (1:93478874 G>C,T), RS1000015502 (1:93454503 T>C), RS1000024703 (1:93496577 T>C,G), RS1000062433 (1:93525576 A>G), RS1000074122 (1:93549554 T>C), RS1000091497 (1:93497767 G>A), RS1000097443 (1:93446449 G>A,C), RS1000229344 (1:93462090 G>A), RS1000255357 (1:93510125 C>A,G), RS1000266560 (1:93448780 G>A,T), RS1000312354 (1:93542843 G>A), RS1000405938 (1:93474002 T>C), RS1000410916 (1:93467148 C>T), RS1000432733 (1:93509490 C>T), RS1000467408 (1:93514361 C>G,T)

Disease associations

OMIM: gene MIM:608848 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST006003_1	Triglyceride levels	6.000000e-10
GCST008477_28	Emphysema annual change measurement in smokers (adjusted lung density)	1.000000e-06
GCST011345_27	Triglyceride levels	1.000000e-10
GCST011348_65	High density lipoprotein cholesterol levels	2.000000e-14
GCST90011898_70	Alanine aminotransferase levels	2.000000e-10
GCST90013405_48	Liver enzyme levels (alanine transaminase)	7.000000e-11

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0007626	emphysema imaging measurement
EFO:0004612	high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, decreases expression, affects cotreatment	4
Air Pollutants	increases abundance, increases oxidation, decreases expression, affects cotreatment	4
Benzo(a)pyrene	decreases expression, decreases methylation, increases methylation	2
Quercetin	decreases phosphorylation, increases expression	2
Tobacco Smoke Pollution	affects expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases oxidation, increases abundance, affects cotreatment	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	affects cotreatment, increases methylation	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
butylbenzyl phthalate	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1

Clinical trials (associated diseases)

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