FMNL1

Summary

FMNL1 (formin like 1, HGNC:1212) is a protein-coding gene on chromosome 17q21.31, encoding Formin-like protein 1 (O95466). May play a role in the control of cell motility and survival of macrophages.

This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. An alternative splice variant has been described but its full length sequence has not been determined.

Source: NCBI Gene 752 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 178 total
• Druggable target: yes
• MANE Select transcript: NM_005892

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1212
Approved symbol	FMNL1
Name	formin like 1
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	C17orf1
Ensembl gene	ENSG00000184922
Ensembl biotype	protein_coding
OMIM	604656
Entrez	752

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 6 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000331495, ENST00000585852, ENST00000586092, ENST00000586643, ENST00000587489, ENST00000587856, ENST00000589911, ENST00000591434, ENST00000592006, ENST00000592415, ENST00000592527, ENST00000947279

RefSeq mRNA: 2 — MANE Select: NM_005892 NM_001411128, NM_005892

CCDS: CCDS11497, CCDS92339

Canonical transcript exons

ENST00000331495 — 27 exons

Exon	Start	End
ENSE00001306556	45244176	45244244
ENSE00001309844	45246505	45246604
ENSE00001310996	45241847	45242146
ENSE00001327985	45243791	45244025
ENSE00001328140	45241382	45241634
ENSE00002736149	45246867	45247318
ENSE00002832872	45241129	45241230
ENSE00002918723	45221885	45222253
ENSE00003472668	45242341	45242465
ENSE00003489557	45244979	45245108
ENSE00003557408	45245632	45245733
ENSE00003586724	45243118	45243320
ENSE00003605834	45244819	45244899
ENSE00003645961	45245878	45245973
ENSE00003685892	45245253	45245416
ENSE00003713491	45246210	45246330
ENSE00003989089	45236136	45236244
ENSE00003989090	45233224	45233297
ENSE00003989091	45232367	45232480
ENSE00003989092	45234072	45234200
ENSE00003989093	45240476	45240625
ENSE00003989094	45230604	45230687
ENSE00003989095	45237546	45237639
ENSE00003989096	45233648	45233731
ENSE00003989097	45237281	45237357
ENSE00003989098	45238955	45239065
ENSE00003989099	45238564	45238638

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 99.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.3387 / max 2991.2956, expressed in 1537 samples.

FANTOM5 promoters (27 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161258	32.9377	1086
161255	2.1175	530
161253	1.7879	884
161257	0.8526	413
161254	0.8463	344
161285	0.6756	247
161287	0.4083	149
161274	0.3809	33
161284	0.3608	73
161286	0.3602	137

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.34	gold quality
monocyte	CL:0000576	98.31	gold quality
leukocyte	CL:0000738	98.16	gold quality
mononuclear cell	CL:0000842	98.07	gold quality
blood	UBERON:0000178	96.63	gold quality
spleen	UBERON:0002106	96.57	gold quality
right lung	UBERON:0002167	95.60	gold quality
upper lobe of left lung	UBERON:0008952	95.47	gold quality
lymph node	UBERON:0000029	95.41	gold quality
bone marrow cell	CL:0002092	94.77	gold quality
vermiform appendix	UBERON:0001154	94.44	gold quality
upper lobe of lung	UBERON:0008948	93.86	gold quality
gall bladder	UBERON:0002110	92.30	gold quality
caecum	UBERON:0001153	91.97	gold quality
right frontal lobe	UBERON:0002810	91.84	gold quality
small intestine Peyer’s patch	UBERON:0003454	91.47	gold quality
omental fat pad	UBERON:0010414	91.05	gold quality
peritoneum	UBERON:0002358	91.01	gold quality
apex of heart	UBERON:0002098	90.69	gold quality
prefrontal cortex	UBERON:0000451	90.44	gold quality
mucosa of stomach	UBERON:0001199	90.10	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.10	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.01	gold quality
bone marrow	UBERON:0002371	89.52	gold quality
cerebellar hemisphere	UBERON:0002245	89.19	gold quality
cerebellar cortex	UBERON:0002129	89.04	gold quality
small intestine	UBERON:0002108	89.00	gold quality
right coronary artery	UBERON:0001625	88.95	gold quality
cingulate cortex	UBERON:0003027	88.66	gold quality
left uterine tube	UBERON:0001303	88.53	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.47
E-MTAB-6379	no	583.52
E-GEOD-106540	no	342.34

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting FMNL1, 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-3163	100.00	77.23	8605
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-216A-5P	99.50	68.02	1288
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-889-5P	99.41	68.75	1025
HSA-MIR-135A-5P	99.36	71.85	1601
HSA-MIR-135B-5P	99.36	71.63	1613
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-4288	97.11	67.23	1636
HSA-MIR-4508	90.37	59.62	240

Literature-anchored findings (GeneRIF, showing 14)

• Western blot analysis demonstrated that the protein encoded by this gene is overexpressed in lymphoid malignancies, cancer cell lines and peripheral blood leukocyte from chronic lymphocytic leukemia (CLL) patients. (PMID:14592423)
• Results describe N-myristoylation as a regulative mechanism of FMNL1 responsible for membrane trafficking potentially involved in a diversity of polarized processes of hematopoietic lineage-derived cells. (PMID:19815554)
• Our data suggest that FRL1 is responsible for modifying actin at the macrophage podosome and may be involved in actin cytoskeleton dynamics during adhesion and migration within tissues. (PMID:20617518)
• after Rac-dependent activation of FMNL1, srGAP2 mediates a potent mechanism to limit the duration of Rac action and inhibit formin activity during rapid actin dynamics. (PMID:21148482)
• constitutively activated form of FMNL1 (FMNL1gamma) induces localization of AHNAK1 to the cell membrane. (PMID:23182705)
• Results suggest that macrophage coiling phagocytosis is a complex process involving several actin nucleation/regulatory factors. They also point specifically to the formins mDia1 and FMNL1 as novel regulators of spirochete uptake by human immune cells. (PMID:23460512)
• FMNL1 contributes to leukemogenesis and could act in part through Rac1 regulation. (PMID:23801653)
• Results indicated that FMNL1 is a susceptibility gene for leprosy. (PMID:29283461)
• High expression of FMNL1, resulted from decreased miR-16 and/or MTA1 amplification. (PMID:30013189)
• The carboxy-terminus of the formin FMNL1 bundles actin to potentiate adenocarcinoma migration. (PMID:30977161)
• miR-143 inhibits proliferation and metastasis of nasopharyngeal carcinoma cells via targeting FMNL1 based on clinical and radiologic findings. (PMID:31001854)
• Suppressing FMNL1 expression could inhibit bone metastasis in NSCLC through blocking TGF-beta1 signaling. (PMID:31387165)
• Formin-like 1 protein (FMNL1) is a promising therapeutic target for glioblastoma multiforme (GBM) progression. (PMID:31861134)
• Formin-related protein 1 facilitates proliferation and aggressive phenotype of clear cell renal cell carcinoma through MAPK/MMP2 pathway. (PMID:37454877)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	fmnl1a	ENSDARG00000055713
danio_rerio		ENSDARG00000104263
mus_musculus	Fmnl1	ENSMUSG00000055805
rattus_norvegicus	Fmnl1	ENSRNOG00000003207
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), FAM47A (ENSG00000185448), SHTN1 (ENSG00000187164), FAM47B (ENSG00000189132), FAM47C (ENSG00000198173), INF2 (ENSG00000203485), GRID2IP (ENSG00000215045)

Protein

Protein identifiers

Formin-like protein 1 — O95466 (reviewed: O95466)

Alternative names: CLL-associated antigen KW-13, Leukocyte formin

All UniProt accessions (5): O95466, K7EJE6, K7EK60, K7EMY8, K7ERL1

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in the control of cell motility and survival of macrophages. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the cortical actin filament dynamics and cell shape.

Subunit / interactions. Interacts with RAC1, PFN1 and PFN2. Interacts (activated by RAC1) with SRGAP2 (via SH3 domain); regulates the actin filament severing activity of FMNL1.

Subcellular location. Cytoplasm. Cell membrane. Cytoplasmic vesicle. Phagosome Cytoplasm. Cell cortex. Cell projection. Bleb.

Tissue specificity. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Post-translational modifications. Myristoylation mediates membrane localization and blebbing.

Domain organisation. The DAD domain regulates activation via by an autoinhibitory interaction with the N-terminus. This autoinhibition is released upon competitive binding of an activated GTPase. The release of DAD allows the FH2 domain to then nucleate and elongate nonbranched actin filaments.

Miscellaneous. Due to intron retention. Constitutively activated form, probably due to alterations in the DAD domain.

Similarity. Belongs to the formin homology family.

Isoforms (3)

UniProt ID	Names	Canonical?
O95466-1	1, FMNL1alpha	yes
O95466-2	2, FMNL1beta
O95466-3	3, FMNL1gamma

RefSeq proteins (2): NP_001398057, NP_005883* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010472	FH3_dom	Domain
IPR010473	GTPase-bd	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR014767	DAD_dom	Domain
IPR014768	GBD/FH3_dom	Domain
IPR015425	FH2_Formin	Domain
IPR016024	ARM-type_fold	Homologous_superfamily
IPR042201	FH2_Formin_sf	Homologous_superfamily
IPR043592	FMNL_animal	Family

Pfam: PF02181, PF06367, PF06371

UniProt features (27 total): compositionally biased region 5, modified residue 5, region of interest 5, sequence conflict 4, domain 3, splice variant 2, initiator methionine 1, chain 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
4YDH	X-RAY DIFFRACTION	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95466-F1	75.17	0.39

Functional residue map

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

Post-translational modifications (6): 7, 184, 624, 693, 1031, 2

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013149	RAC1 GTPase cycle

MSigDB gene sets: 170 (showing top): MYOGENIN_Q6, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, ENK_UV_RESPONSE_KERATINOCYTE_UP, MODULE_45, GOMF_GTPASE_BINDING, GGGTGGRR_PAX4_03, GNF2_MCL1, GNF2_ICAM3, GNF2_PAK2, GNF2_MYD88, PPAR_DR1_Q2, APPIERTO_RESPONSE_TO_FENRETINIDE_DN, SANSOM_APC_TARGETS_DN, AACTTT_UNKNOWN, RYTTCCTG_ETS2_B

GO Biological Process (8): regulation of cell shape (GO:0008360), cell migration (GO:0016477), cortical actin cytoskeleton organization (GO:0030866), actin filament severing (GO:0051014), cytoskeleton organization (GO:0007010), cellular component organization (GO:0016043), regulation of cell morphogenesis (GO:0022604), actin cytoskeleton organization (GO:0030036)

GO Molecular Function (5): small GTPase binding (GO:0031267), GTPase activating protein binding (GO:0032794), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)

GO Cellular Component (10): cytosol (GO:0005829), plasma membrane (GO:0005886), cell cortex (GO:0005938), membrane (GO:0016020), bleb (GO:0032059), phagocytic vesicle (GO:0045335), extracellular exosome (GO:0070062), cytoplasm (GO:0005737), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	2
RHO GTPase Effectors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	3
actin filament-based process	2
cell periphery	2
regulation of cell morphogenesis	1
regulation of biological quality	1
cell motility	1
actin cytoskeleton organization	1
cortical cytoskeleton organization	1
organelle organization	1
cellular component organization or biogenesis	1
cell morphogenesis	1
regulation of anatomical structure morphogenesis	1
cytoskeleton organization	1
GTPase binding	1
protein binding	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
membrane	1
plasma membrane bounded cell projection	1
endocytic vesicle	1
extracellular vesicle	1
intracellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

1320 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FMNL1	CRIPTO	P13385	973
FMNL1	CFC1	P0CG37	905
FMNL1	SRGAP2	O75044	899
FMNL1	PFN4	Q8NHR9	892
FMNL1	PFN3	P60673	887
FMNL1	PFN1	P07737	870
FMNL1	SRGAP3	O43295	865
FMNL1	RHOA	P06749	762
FMNL1	CDC42	P21181	652
FMNL1	INF2	Q27J81	633
FMNL1	EGF	P01133	631
FMNL1	WBP4	O75554	605
FMNL1	FNBP4	Q8N3X1	590
FMNL1	SVIL	O95425	577
FMNL1	LEFTY2	O00292	576

IntAct

26 interactions, top by confidence:

A	B	Type	Score
STRN3	STRN	psi-mi:“MI:2364”(proximity)	0.880
steC	FMNL1	psi-mi:“MI:0915”(physical association)	0.680
steC	FMNL1	psi-mi:“MI:0407”(direct interaction)	0.680
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
SRGAP2	FMNL1	psi-mi:“MI:0915”(physical association)	0.600
FMNL1	SRGAP2	psi-mi:“MI:0915”(physical association)	0.600
SRGAP2	FMNL1	psi-mi:“MI:0407”(direct interaction)	0.600
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
steC	SCD	psi-mi:“MI:0914”(association)	0.460
FMNL1	H1-2	psi-mi:“MI:0915”(physical association)	0.400
FMNL1	H1-4	psi-mi:“MI:0915”(physical association)	0.400
FMNL1	GAS7	psi-mi:“MI:0915”(physical association)	0.400
	FMNL1	psi-mi:“MI:0915”(physical association)	0.370
FMNL1	PRPF40A	psi-mi:“MI:0915”(physical association)	0.370
TBK1	FMNL1	psi-mi:“MI:0914”(association)	0.350
TBK1	UBR5	psi-mi:“MI:0914”(association)	0.350
lpqN	SOWAHD	psi-mi:“MI:0914”(association)	0.350
CEACAM8	VGF	psi-mi:“MI:0914”(association)	0.350
CHRM4	EXOC5	psi-mi:“MI:0914”(association)	0.350
DNAJB11	FMNL1	psi-mi:“MI:0914”(association)	0.350
PEX7	UBA6	psi-mi:“MI:0914”(association)	0.350
FMNL1	XRCC6	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (111): HMG20A (Two-hybrid), FMNL1 (Biochemical Activity), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), PPP1R10 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Affinity Capture-MS), FMNL1 (Proximity Label-MS)

ESM2 similar proteins: A0A1D5P556, A6H7I5, B0DOB5, D3ZGS3, F1M386, F1MSG6, F1PBJ0, G5EGS5, H2KZZ6, O95466, P21575, P23678, P27619, P39052, P39053, P39054, P39055, P48608, P50570, P78344, P79398, Q01968, Q05193, Q08877, Q08DF4, Q15057, Q15172, Q24564, Q2KI89, Q5R629, Q5R7J9, Q5ZK62, Q62448, Q6IVG4, Q6NXC0, Q6ZQK5, Q7SIG6, Q7XPJ0, Q80U19, Q86T65

Diamond homologs: A0A3Q1LSX9, A2APV2, O23373, O95466, Q0D5P3, Q69MT2, Q6H7U3, Q6NTV6, Q6NXC0, Q6ZPF4, Q8IVF7, Q96PY5, Q9JL26, Q9VUC6, Q0D519, Q0GNC1, Q27J81, Q6MWG9, Q94B77, Q0IHV1, Q54SP2, Q5TJ55, Q6ZCX3, Q9SK28, A2XUA1, A2YVG8, A3AB67, A4D2P6, F1LVW7, O04532, O22824, O48682, O70566, Q0DLG0, Q0QWG9, Q10Q99, Q24120, Q6ZKB2, Q7XUV2, Q8GX37

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PRKCD	“up-regulates activity”	FMNL1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	153
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4278 predictions. Top by Δscore:

Variant	Effect	Δscore
17:45222252:TGGTG:T	donor_loss	1.0000
17:45222254:G:A	donor_loss	1.0000
17:45222254:G:GG	donor_gain	1.0000
17:45222255:T:A	donor_loss	1.0000
17:45230600:CCAGA:C	acceptor_loss	1.0000
17:45230601:CAGA:C	acceptor_loss	1.0000
17:45230602:A:AC	acceptor_loss	1.0000
17:45230602:A:AG	acceptor_gain	1.0000
17:45230603:G:GA	acceptor_gain	1.0000
17:45230603:G:GT	acceptor_loss	1.0000
17:45230603:GA:G	acceptor_gain	1.0000
17:45230603:GAAC:G	acceptor_gain	1.0000
17:45230603:GAACT:G	acceptor_gain	1.0000
17:45230686:AGGTA:A	donor_loss	1.0000
17:45230688:G:GG	donor_gain	1.0000
17:45233214:C:A	acceptor_gain	1.0000
17:45233215:G:A	acceptor_gain	1.0000
17:45233220:CCAGT:C	acceptor_loss	1.0000
17:45233221:CAGTT:C	acceptor_loss	1.0000
17:45233222:A:AG	acceptor_gain	1.0000
17:45233223:G:GT	acceptor_gain	1.0000
17:45233223:GT:G	acceptor_gain	1.0000
17:45233223:GTTT:G	acceptor_gain	1.0000
17:45233296:GG:G	donor_gain	1.0000
17:45233297:GG:G	donor_gain	1.0000
17:45233298:G:GG	donor_gain	1.0000
17:45233299:T:A	donor_loss	1.0000
17:45233646:AGGT:A	acceptor_gain	1.0000
17:45233646:AGGTG:A	acceptor_gain	1.0000
17:45233647:GGTG:G	acceptor_gain	1.0000

AlphaMissense

7182 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:45233267:T:C	L124P	1.000
17:45233279:T:C	L128P	1.000
17:45237569:T:C	L275P	1.000
17:45238978:C:A	N331K	1.000
17:45238978:C:G	N331K	1.000
17:45239022:T:C	L346P	1.000
17:45242394:T:A	W647R	1.000
17:45242394:T:C	W647R	1.000
17:45244877:T:C	F859S	1.000
17:45230617:T:C	L48S	0.999
17:45230674:T:C	L67P	0.999
17:45233258:T:C	L121P	0.999
17:45233279:T:A	L128Q	0.999
17:45233282:G:C	R129T	0.999
17:45233282:G:T	R129M	0.999
17:45233283:G:C	R129S	0.999
17:45233283:G:T	R129S	0.999
17:45233649:T:A	W135R	0.999
17:45233649:T:C	W135R	0.999
17:45233651:G:C	W135C	0.999
17:45233651:G:T	W135C	0.999
17:45233662:T:C	F139S	0.999
17:45233665:T:C	L140P	0.999
17:45233695:T:C	L150P	0.999
17:45233707:T:C	L154P	0.999
17:45236218:T:C	C233R	0.999
17:45236220:C:G	C233W	0.999
17:45236222:T:C	L234P	0.999
17:45236227:G:C	A236P	0.999
17:45236238:C:A	N239K	0.999

dbSNP variants (sampled 300 via entrez): RS1000184837 (17:45228441 T>C), RS1000185073 (17:45223550 C>A,T), RS1000214357 (17:45223232 C>T), RS1000367349 (17:45228833 C>A,T), RS1000412499 (17:45234394 G>A,T), RS1000422934 (17:45222752 A>G), RS1000453225 (17:45240083 G>A), RS1000605522 (17:45246996 C>A), RS1000775897 (17:45222941 T>C), RS1000802294 (17:45228598 C>T), RS1001372925 (17:45222542 C>G,T), RS1001415824 (17:45246648 C>A,T), RS1001540878 (17:45228540 C>A), RS1001625522 (17:45233990 T>C), RS1001668795 (17:45228116 G>A)

Disease associations

OMIM: gene MIM:604656 | 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
GCST004412_12	Craniofacial microsomia	9.000000e-06
GCST006661_255	Male-pattern baldness	2.000000e-22
GCST006898_6	Hypothyroidism	2.000000e-08
GCST006899_18	Thyroid stimulating hormone levels	3.000000e-07
GCST008916_39	Asthma	8.000000e-12
GCST009798_36	Asthma	2.000000e-10

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5724681 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	3
Air Pollutants	increases abundance, increases expression, affects expression	2
Nickel	increases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
sodium arsenite	affects binding, increases reaction	1
butyraldehyde	decreases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Venlafaxine Hydrochloride	increases expression	1
Acetaminophen	decreases expression	1
Benzene	increases expression	1
Benzo(a)pyrene	increases methylation	1
Calcitriol	decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Ozone	increases abundance, affects expression	1
Smoke	decreases expression	1
Tamoxifen	affects expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	increases methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	increases expression	1
Raloxifene Hydrochloride	affects expression	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651438	Binding	Binding affinity to human FMNL1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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