FBLIM1

Summary

FBLIM1 (filamin binding LIM protein 1, HGNC:24686) is a protein-coding gene on chromosome 1p36.21, encoding Filamin-binding LIM protein 1 (Q8WUP2). Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. It is a selective cancer dependency (DepMap: 40.6% of cell lines).

This gene encodes a protein with an N-terminal filamin-binding domain, a central proline-rich domain, and, multiple C-terminal LIM domains. This protein localizes at cell junctions and may link cell adhesion structures to the actin cytoskeleton. This protein may be involved in the assembly and stabilization of actin-filaments and likely plays a role in modulating cell adhesion, cell morphology and cell motility. This protein also localizes to the nucleus and may affect cardiomyocyte differentiation after binding with the CSX/NKX2-5 transcription factor. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 54751 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 89 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 40.6% of screened cell lines
• MANE Select transcript: NM_017556

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24686
Approved symbol	FBLIM1
Name	filamin binding LIM protein 1
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	FBLP-1, CAL, migfilin
Ensembl gene	ENSG00000162458
Ensembl biotype	protein_coding
OMIM	607747
Entrez	54751

Gene structure

Transcript identifiers

Ensembl transcripts: 74 — 72 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000332305, ENST00000375766, ENST00000375771, ENST00000430076, ENST00000431771, ENST00000441801, ENST00000483633, ENST00000496928, ENST00000502638, ENST00000502739, ENST00000508310, ENST00000509138, ENST00000510393, ENST00000510929, ENST00000514156, ENST00000908346, ENST00000908347, ENST00000908348, ENST00000908349, ENST00000908350, ENST00000908351, ENST00000908352, ENST00000908353, ENST00000908354, ENST00000908355, ENST00000908356, ENST00000908357, ENST00000908358, ENST00000908359, ENST00000908360, ENST00000908361, ENST00000908362, ENST00000908363, ENST00000908364, ENST00000908365, ENST00000908366, ENST00000908367, ENST00000908368, ENST00000908369, ENST00000908370, ENST00000915870, ENST00000915871, ENST00000915872, ENST00000915873, ENST00000915874, ENST00000915875, ENST00000915876, ENST00000915877, ENST00000915878, ENST00000915879, ENST00000915880, ENST00000915881, ENST00000915882, ENST00000915883, ENST00000915884, ENST00000915885, ENST00000915886, ENST00000915887, ENST00000915888, ENST00000915889, ENST00000944490, ENST00000944491, ENST00000944492, ENST00000944493, ENST00000944494, ENST00000944495, ENST00000944496, ENST00000944497, ENST00000944498, ENST00000944499, ENST00000944500, ENST00000944501, ENST00000944502, ENST00000944503

RefSeq mRNA: 4 — MANE Select: NM_017556 NM_001024215, NM_001024216, NM_001350151, NM_017556

CCDS: CCDS163, CCDS30609, CCDS44064

Canonical transcript exons

ENST00000375766 — 9 exons

Exon	Start	End
ENSE00001433295	15764496	15764685
ENSE00001603049	15770409	15770578
ENSE00001712332	15774618	15774796
ENSE00001747550	15768528	15768630
ENSE00001759398	15767376	15767563
ENSE00001814371	15758795	15758848
ENSE00002143332	15764964	15765233
ENSE00003605244	15777170	15777287
ENSE00003846230	15784548	15786589

Expression profiles

Bgee: expression breadth ubiquitous, 229 present calls, max score 99.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9627 / max 307.1371, expressed in 1374 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
915	21.0887	1336
914	0.6198	410
913	0.6008	319
908	0.4752	133
912	0.2882	159
918	0.2713	100
907	0.2607	77
917	0.2152	87
909	0.0494	19
910	0.0380	17

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right coronary artery	UBERON:0001625	99.48	gold quality
thoracic aorta	UBERON:0001515	99.45	gold quality
descending thoracic aorta	UBERON:0002345	99.45	gold quality
ascending aorta	UBERON:0001496	99.44	gold quality
ileal mucosa	UBERON:0000331	99.38	gold quality
aorta	UBERON:0000947	99.21	gold quality
popliteal artery	UBERON:0002250	99.06	gold quality
tibial artery	UBERON:0007610	99.06	gold quality
cardiac muscle of right atrium	UBERON:0003379	98.91	gold quality
saphenous vein	UBERON:0007318	98.82	gold quality
pancreatic ductal cell	CL:0002079	98.78	gold quality
left coronary artery	UBERON:0001626	98.77	gold quality
coronary artery	UBERON:0001621	98.59	gold quality
left ventricle myocardium	UBERON:0006566	98.35	gold quality
mucosa of transverse colon	UBERON:0004991	98.20	gold quality
gall bladder	UBERON:0002110	97.92	gold quality
epithelial cell of pancreas	CL:0000083	97.88	silver quality
stromal cell of endometrium	CL:0002255	97.25	gold quality
rectum	UBERON:0001052	96.91	gold quality
transverse colon	UBERON:0001157	96.81	gold quality
superficial temporal artery	UBERON:0001614	96.73	gold quality
cauda epididymis	UBERON:0004360	96.62	gold quality
colonic mucosa	UBERON:0000317	96.22	gold quality
metanephros cortex	UBERON:0010533	95.94	gold quality
mucosa of sigmoid colon	UBERON:0004993	95.82	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.73	gold quality
myocardium	UBERON:0002349	95.70	gold quality
smooth muscle tissue	UBERON:0001135	95.61	gold quality
duodenum	UBERON:0002114	95.56	gold quality
small intestine	UBERON:0002108	95.44	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-8060	yes	105.63
E-MTAB-8142	yes	83.36
E-CURD-88	yes	44.00
E-HCAD-31	no	1.94
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): GLI1

miRNA regulators (miRDB)

3 targeting FBLIM1, 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-6778-3P	99.96	67.29	2693
HSA-MIR-504-3P	99.30	67.18	1745
HSA-MIR-342-3P	96.44	67.48	1344

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 40.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 21)

• The association between filamin B and FBLP-1 may play a hitherto unknown role in cytoskeletal function, cell adhesion, and cell motility. (PMID:12496242)
• A review of migfilin’s role as a key regulator both at cell adhesion sites and nuclei. It’s possible role in the pathogenesis of several human diseases is also discussed. (PMID:15701922)
• Migfilin has a role in interacting with vasodilator-stimulated phosphoprotein (VASP) and regulates VASP localization to cell-matrix adhesions and migration (PMID:16531412)
• Results suggest a role for cytoplasmic migfilin in the progression of leiomyosarcomas (LMS) and identify cytoplasmic migfilin as a potentially important biological marker for human LMS progression. (PMID:17711449)
• Loss-of-function mutations in KIND1 result in marked variability in kindlin-1 immunolabeling in Kindler syndrome skin, which is mirrored by similar changes in kindlin-2 and migfilin immunoreactivity. (PMID:18528435)
• analysis of the migfilin-filamin interaction and competition with integrin beta 7 tails (PMID:18829455)
• Migfilin thus acts as a molecular switch to disconnect filamin from integrin for regulating integrin activation and dynamics of extracellular matrix-actin linkage. (PMID:19074766)
• Migfilin interacts with Src and contributes to cell-matrix adhesion-mediated survival signaling (PMID:19833732)
• Migfilin can activate beta1, beta2 and beta3 integrins and promote integrin mediated responses while migfilin depletion impairs the spreading and migration of endothelial cells (PMID:22043318)
• Migfilin promoted beta-catenin degradation by reinforcing the association between beta-catenin and GSK-3beta. (PMID:22246236)
• Migfilin positively modulates the expression and activity of epidermal growth factor receptor, and Migfilin-mediated migration and invasion depend on epidermal growth factor receptor-induced PLC-gamma and STAT3-signaling pathways. (PMID:22843679)
• alpha-parvin, beta-parvin and migfilin were expressed in tumor cells in 53%, 2%, 28% and 53% of effusions and 57%, 20%, 83% and 25% of solid lesions, respectively. (PMID:23099104)
• the present study emphasizes for the first time to our knowledge the role of Migfilin in osteoarthritis(OA) and highlights the importance of cell-ECM adhesion proteins in OA pathogenesis. (PMID:23237804)
• Migfilin expression is reduced in breast cancer. (PMID:23645746)
• data implicate FBLIM1 in the pathogenesis of sterile bone inflammation and our findings suggest CRMO is a disorder of chronic inflammation and imbalanced bone remodeling (PMID:28301468)
• Findings indicate that tightly regulated expression of migfilin is essential for neuronal development and that FBLIM1 disruption may be related to the phenotypes associated with ASD and related neurodevelopmental disorders. (PMID:29114925)
• Migfilin promotes migration and invasion in glioma by driving EGFR and MMP-2 signalings (PMID:29203120)
• Authors conclude that circFBLIM1 may function as a competing endogenous RNA (ceRNA) to regulate FBLIM1 expression through sponging miR-346 to exert regulatory functions in HCC. (PMID:30053867)
• Results showed FBLIM1 overexpression in oral squamous cell carcinoma (OSCC) in vitro and in vivo and that FBLIM1 positivity in OSCC was correlated with tumoral growth and vascular invasion. FBLIM1 silencing was characterized by decreased cellular growth, invasiveness, and migratory activities and induced EGFR down-regulation. (PMID:30129678)
• Genetic analyses of FBLIM1 did not provide evidence that this gene is relevant in our patient group. Our study indicates the need to elucidate SAPHO’s and CRMO/CNO’s pathogenesis. (PMID:32397996)
• High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO). (PMID:32650789)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	fblim1	ENSDARG00000071558
mus_musculus	Fblim1	ENSMUSG00000006219
rattus_norvegicus	Fblim1	ENSRNOG00000011774

Paralogs (1): LPP (ENSG00000145012)

Protein

Protein identifiers

Filamin-binding LIM protein 1 — Q8WUP2 (reviewed: Q8WUP2)

Alternative names: Migfilin, Mitogen-inducible 2-interacting protein

All UniProt accessions (10): D6R9I4, D6R9V9, D6RA19, D6RAI6, D6RAI8, E7EN81, E7EPI5, E7EWE8, Q8WUP2, Q5VVD3

UniProt curated annotations — full annotation on UniProt →

Function. Serves as an anchoring site for cell-ECM adhesion proteins and filamin-containing actin filaments. Is implicated in cell shape modulation (spreading) and motility. May participate in the regulation of filamin-mediated cross-linking and stabilization of actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly. Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotes activation of integrins and regulates integrin-mediated cell-cell adhesion.

Subunit / interactions. Interacts with NKX2-5. Isoform 1 and isoform 3 interact with FERMT2, FLNA, FLNB and FLNC. Isoform 2 interacts with FLNB.

Subcellular location. Cell junction. Focal adhesion. Cytoplasm. Cytoskeleton. Stress fiber.

Tissue specificity. Isoform 1 and isoform 3 are expressed in heart, kidney, lung, pancreas, placenta and platelets. Isoform 2 is expressed in brain, heart, kidney, lung, pancreas, placenta, skeletal muscle and platelets.

Domain organisation. The N-terminal region is intrinsically disordered.

Miscellaneous. May be due to competing donor splice site. May be due to exon skipping.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8WUP2-1	1, FBLP-1A	yes
Q8WUP2-2	2, FBLP-1
Q8WUP2-3	3, FBLP-1B

RefSeq proteins (4): NP_001019386, NP_001019387, NP_001337080, NP_060026* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001781	Znf_LIM	Domain

Pfam: PF00412

UniProt features (16 total): region of interest 4, domain 3, splice variant 2, sequence variant 2, strand 2, chain 1, mutagenesis site 1, compositionally biased region 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
2W0P	X-RAY DIFFRACTION	1.9
4P3W	X-RAY DIFFRACTION	2
2K9U	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WUP2-F1	67.32	0.13

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
7–8	localizes to cell-ecm adhesions; abolishes flna and flnc interactions; failed to decorate actin filaments.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-446353	Cell-extracellular matrix interactions

MSigDB gene sets: 119 (showing top): MYOGENIN_Q6, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_CELL_ADHESION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, WANG_LMO4_TARGETS_DN, NF1_Q6_01, GOBP_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, MCBRYAN_PUBERTAL_BREAST_5_6WK_UP, LIAO_METASTASIS, MYOD_Q6, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, COATES_MACROPHAGE_M1_VS_M2_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN

GO Biological Process (4): regulation of cell shape (GO:0008360), regulation of integrin activation (GO:0033623), cell-cell adhesion (GO:0098609), cell adhesion (GO:0007155)

GO Molecular Function (3): filamin binding (GO:0031005), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (9): fibrillar center (GO:0001650), stress fiber (GO:0001725), cytoplasm (GO:0005737), cytosol (GO:0005829), focal adhesion (GO:0005925), cell junction (GO:0030054), cell periphery (GO:0071944), cytoskeleton (GO:0005856), anchoring junction (GO:0070161)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Cell junction organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	5
regulation of cell morphogenesis	1
regulation of biological quality	1
integrin activation	1
regulation of protein-containing complex assembly	1
cell adhesion	1
cellular process	1
cytoskeletal protein binding	1
cation binding	1
binding	1
nucleolus	1
actomyosin	1
contractile actin filament bundle	1
intracellular anatomical structure	1
cytoplasm	1
cell-substrate junction	1
intracellular membraneless organelle	1
cell junction	1

Protein interactions and networks

STRING

646 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FBLIM1	FLNA	P21333	995
FBLIM1	FERMT2	Q96AC1	994
FBLIM1	FLNB	O75369	994
FBLIM1	FLNC	Q14315	990
FBLIM1	FERMT3	Q86UX7	929
FBLIM1	FERMT1	Q9BQL6	787
FBLIM1	VASP	P50552	750
FBLIM1	ILK	P57043	709
FBLIM1	TLN1	Q9Y490	622
FBLIM1	TLN2	Q9Y4G6	612
FBLIM1	GP1BA	P07359	537
FBLIM1	TMEM82	A0PJX8	533
FBLIM1	PSTPIP2	Q9H939	528
FBLIM1	SRC	P12931	515
FBLIM1	PARVA	Q9NVD7	470

IntAct

46 interactions, top by confidence:

A	B	Type	Score
FBLIM1	CUTA	psi-mi:“MI:0915”(physical association)	0.740
CUTA	FBLIM1	psi-mi:“MI:0915”(physical association)	0.740
LMO3	FBLIM1	psi-mi:“MI:0915”(physical association)	0.670
H3C1	FBLIM1	psi-mi:“MI:0915”(physical association)	0.560
FBLIM1	H3C1	psi-mi:“MI:0915”(physical association)	0.560
CUTA	FBLIM1	psi-mi:“MI:0915”(physical association)	0.560
H3-5	FBLIM1	psi-mi:“MI:0915”(physical association)	0.560
LMO3	FBLIM1	psi-mi:“MI:0915”(physical association)	0.560
FBLIM1	ADAT3	psi-mi:“MI:0915”(physical association)	0.560
ACTMAP	FBLIM1	psi-mi:“MI:0915”(physical association)	0.560
SHISA6	FBLIM1	psi-mi:“MI:0915”(physical association)	0.560
FBLIM1	NKX2-5	psi-mi:“MI:0915”(physical association)	0.550
TMCC2	CORO1A	psi-mi:“MI:0914”(association)	0.530
CFTR	CNOT1	psi-mi:“MI:0914”(association)	0.480
let-756	FBLIM1	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
FBLIM1	DCLK1	psi-mi:“MI:0914”(association)	0.350
H3-3A	MACROH2A1	psi-mi:“MI:0914”(association)	0.350
NIF3L1	GALT	psi-mi:“MI:0914”(association)	0.350
CUTA	UBB	psi-mi:“MI:0914”(association)	0.350
TMCC2	RPS4Y1	psi-mi:“MI:0914”(association)	0.350
EVL	PFN2	psi-mi:“MI:0914”(association)	0.350
FBLIM1	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (69): FBLIM1 (Two-hybrid), FBLIM1 (Two-hybrid), LMO3 (Two-hybrid), FBLIM1 (Affinity Capture-MS), FBLIM1 (Affinity Capture-Western), FBLIM1 (PCA), FBLIM1 (Affinity Capture-MS), FBLIM1 (Affinity Capture-MS), FBLIM1 (Affinity Capture-MS), FBLIM1 (Affinity Capture-MS), FBLIM1 (Two-hybrid), FBLIM1 (Reconstituted Complex), FERMT2 (Affinity Capture-Western), FLNA (Two-hybrid), FLNA (Affinity Capture-Western)

ESM2 similar proteins: A0JNI8, O60663, O88609, O97581, P29674, P36200, P37137, P48742, P50211, P50212, P50480, P50481, P52889, P53405, P53406, P53407, P53408, P53409, P53410, P53411, P53412, P53413, P53776, P61371, P61372, P61373, P61374, P61375, P61376, P63006, P63007, P63008, Q04650, Q1JQB5, Q5IS44, Q5IS89, Q5NBY9, Q60564, Q86UZ6, Q8TE12

Diamond homologs: A0JNI8, A0M8S5, A1ZA47, A2PZF9, A5H447, A6NIX2, A8DZE6, A9LS46, B5DEH0, B7ZUL2, E1BKA3, G5E5X0, G5EEA1, O43294, O60663, O88609, P35688, P37137, P48742, P53411, P53413, P61375, P61376, P61968, P61969, P63006, P63007, P63008, Q04584, Q06BR1, Q07E40, Q0VA45, Q15654, Q15942, Q1JQB5, Q2IBC3, Q3MHZ4, Q3SWZ8, Q3SX26, Q3SX40

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
FERMT2	“up-regulates activity”	FBLIM1	binding
FERMT1	“up-regulates activity”	FBLIM1	binding
FERMT3	“up-regulates activity”	FBLIM1	binding
FBLIM1	“up-regulates activity”	FLNA	binding
FBLIM1	“up-regulates activity”	FLNB	binding
FBLIM1	“up-regulates activity”	FLNC	binding
Kindlin	“up-regulates activity”	FBLIM1	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	63
Likely benign	5
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
2426034	NC_000001.10:g.(?16096904)(16271697_?)del	Pathogenic

SpliceAI

1692 predictions. Top by Δscore:

Variant	Effect	Δscore
1:15764962:A:AG	acceptor_gain	1.0000
1:15764963:G:GG	acceptor_gain	1.0000
1:15765230:GGAG:G	donor_gain	1.0000
1:15765231:GAGG:G	donor_gain	1.0000
1:15767369:A:AG	acceptor_gain	1.0000
1:15767371:TGCAG:T	acceptor_loss	1.0000
1:15767372:GCAGG:G	acceptor_loss	1.0000
1:15767373:CAG:C	acceptor_loss	1.0000
1:15767374:A:AG	acceptor_gain	1.0000
1:15767374:AG:A	acceptor_gain	1.0000
1:15767374:AGG:A	acceptor_loss	1.0000
1:15767375:G:GG	acceptor_gain	1.0000
1:15767375:GG:G	acceptor_gain	1.0000
1:15767375:GGAT:G	acceptor_gain	1.0000
1:15767559:CACAG:C	donor_loss	1.0000
1:15767560:ACAG:A	donor_loss	1.0000
1:15767561:CAGGT:C	donor_loss	1.0000
1:15767562:AGGTA:A	donor_loss	1.0000
1:15767563:GGT:G	donor_loss	1.0000
1:15767564:GTA:G	donor_loss	1.0000
1:15767565:T:G	donor_loss	1.0000
1:15768523:CACA:C	acceptor_loss	1.0000
1:15768525:CA:C	acceptor_loss	1.0000
1:15768526:A:AC	acceptor_loss	1.0000
1:15768526:A:AG	acceptor_gain	1.0000
1:15768527:G:GG	acceptor_gain	1.0000
1:15768627:ACAGG:A	donor_loss	1.0000
1:15768630:GGTA:G	donor_loss	1.0000
1:15768631:G:T	donor_loss	1.0000
1:15770406:CAGAC:C	acceptor_loss	1.0000

AlphaMissense

2422 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:15777261:T:C	F328L	0.999
1:15777263:C:A	F328L	0.999
1:15777263:C:G	F328L	0.999
1:15774747:T:C	F281L	0.998
1:15774749:T:A	F281L	0.998
1:15774749:T:G	F281L	0.998
1:15777186:T:A	C303S	0.998
1:15777186:T:C	C303R	0.998
1:15777187:G:C	C303S	0.998
1:15777188:C:G	C303W	0.998
1:15777196:G:A	C306Y	0.998
1:15777273:T:C	C332R	0.998
1:15774705:T:C	F267L	0.997
1:15774707:C:A	F267L	0.997
1:15774707:C:G	F267L	0.997
1:15774789:T:C	F295L	0.997
1:15774791:C:A	F295L	0.997
1:15774791:C:G	F295L	0.997
1:15777187:G:A	C303Y	0.997
1:15777195:T:A	C306S	0.997
1:15777196:G:C	C306S	0.997
1:15777262:T:C	F328S	0.997
1:15777273:T:A	C332S	0.997
1:15777274:G:C	C332S	0.997
1:15777274:G:T	C332F	0.997
1:15777275:C:G	C332W	0.997
1:15777276:T:G	Y333D	0.997
1:15777282:T:A	C335S	0.997
1:15777282:T:C	C335R	0.997
1:15777283:G:C	C335S	0.997

dbSNP variants (sampled 300 via entrez): RS1000044472 (1:15771240 T>G), RS1000203333 (1:15759175 C>T), RS1000254160 (1:15759396 T>C), RS1000269010 (1:15755146 CTCTGGAGG>C), RS1000476387 (1:15765564 C>T), RS1000528473 (1:15760878 A>G), RS1000586084 (1:15766410 C>T), RS1000614254 (1:15754799 C>T), RS1000721892 (1:15782135 G>A), RS1000864242 (1:15769699 C>T), RS1001101800 (1:15772178 A>G,T), RS1001124116 (1:15775786 A>G), RS1001223181 (1:15776932 C>A), RS1001290594 (1:15777819 C>G,T), RS1001373345 (1:15785918 A>G)

Disease associations

OMIM: gene MIM:607747 | 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
GCST001776_13	Cardiac Troponin-T levels	3.000000e-06
GCST003875_27	Gut microbiota (bacterial taxa)	2.000000e-08
GCST004860_1	Alcoholic chronic pancreatitis	7.000000e-07
GCST004860_107	Alcoholic chronic pancreatitis	2.000000e-06
GCST004860_109	Alcoholic chronic pancreatitis	6.000000e-06
GCST006979_854	Heel bone mineral density	3.000000e-18

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005043	cardiac troponin T measurement
EFO:0007874	gut microbiome measurement
EFO:0007883	taxonomic microbiome measurement
EFO:0009270	heel bone mineral density

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression	4
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	2
Acetaminophen	increases expression	2
Calcitriol	increases expression, affects cotreatment	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	increases abundance, increases expression	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, increases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
lead acetate	increases expression	1
pyrogallol 1,3-dimethyl ether	affects cotreatment, affects localization, decreases expression, increases expression	1
trimellitic anhydride	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	decreases expression	1
mercuric bromide	affects cotreatment, increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Sunitinib	increases expression	1

Clinical trials (associated diseases)

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