FMNL3

Summary

FMNL3 (formin like 3, HGNC:23698) is a protein-coding gene on chromosome 12q13.12, encoding Formin-like protein 3 (Q8IVF7). Plays a role in the regulation of cell morphology and cytoskeletal organization.

The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described.

Source: NCBI Gene 91010 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 239 total
• MANE Select transcript: NM_175736

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23698
Approved symbol	FMNL3
Name	formin like 3
Location	12q13.12
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp762B245, MGC45819, WBP3
Ensembl gene	ENSG00000161791
Ensembl biotype	protein_coding
OMIM	616288
Entrez	91010

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 8 protein_coding, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000335154, ENST00000352151, ENST00000549137, ENST00000550424, ENST00000550488, ENST00000550668, ENST00000550970, ENST00000865008, ENST00000865009, ENST00000966892, ENST00000966893

RefSeq mRNA: 3 — MANE Select: NM_175736 NM_001367835, NM_175736, NM_198900

CCDS: CCDS41780, CCDS44874

Canonical transcript exons

ENST00000335154 — 26 exons

Exon	Start	End
ENSE00001194567	49647703	49647804
ENSE00001331883	49661966	49662049
ENSE00001369731	49707055	49707405
ENSE00001405981	49636499	49645903
ENSE00001605683	49653226	49653327
ENSE00001612465	49658442	49658594
ENSE00001631845	49654192	49654302
ENSE00001741320	49653725	49653874
ENSE00001743701	49651933	49652212
ENSE00001775320	49654910	49654984
ENSE00001793632	49656823	49656899
ENSE00001798453	49656404	49656497
ENSE00001799348	49657082	49657190
ENSE00003473960	49651168	49651292
ENSE00003511829	49649470	49649538
ENSE00003540569	49668471	49668554
ENSE00003543681	49648193	49648353
ENSE00003589510	49647276	49647368
ENSE00003593221	49646886	49647009
ENSE00003594355	49649259	49649339
ENSE00003618904	49649029	49649158
ENSE00003623276	49650676	49650878
ENSE00003636791	49666127	49666207
ENSE00003642778	49649691	49649925
ENSE00003644605	49665832	49665908
ENSE00003689369	49651382	49651450

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 93.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8250 / max 203.6959, expressed in 1676 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
130853	12.0495	1666
130851	1.1625	341
130852	0.6130	305

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	93.92	gold quality
tibial nerve	UBERON:0001323	91.58	gold quality
vermiform appendix	UBERON:0001154	88.92	gold quality
right coronary artery	UBERON:0001625	87.41	gold quality
stromal cell of endometrium	CL:0002255	87.13	gold quality
lymph node	UBERON:0000029	86.68	gold quality
calcaneal tendon	UBERON:0003701	86.61	gold quality
apex of heart	UBERON:0002098	86.26	gold quality
granulocyte	CL:0000094	84.87	gold quality
left coronary artery	UBERON:0001626	84.79	gold quality
right lung	UBERON:0002167	84.44	gold quality
tibial artery	UBERON:0007610	84.21	gold quality
upper lobe of left lung	UBERON:0008952	84.20	gold quality
popliteal artery	UBERON:0002250	84.18	gold quality
left ovary	UBERON:0002119	84.15	gold quality
tendon	UBERON:0000043	84.13	gold quality
coronary artery	UBERON:0001621	84.07	gold quality
caecum	UBERON:0001153	83.89	gold quality
right ovary	UBERON:0002118	83.82	gold quality
tendon of biceps brachii	UBERON:0008188	83.61	gold quality
right lobe of thyroid gland	UBERON:0001119	83.47	gold quality
smooth muscle tissue	UBERON:0001135	83.38	gold quality
gall bladder	UBERON:0002110	83.26	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.26	gold quality
colonic epithelium	UBERON:0000397	83.12	gold quality
left lobe of thyroid gland	UBERON:0001120	83.12	gold quality
upper lobe of lung	UBERON:0008948	82.98	gold quality
thyroid gland	UBERON:0002046	82.86	gold quality
aorta	UBERON:0000947	82.80	gold quality
omental fat pad	UBERON:0010414	81.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.99
E-GEOD-83139	yes	6.95
E-ENAD-27	yes	6.84
E-MTAB-5061	yes	6.58
E-MTAB-9801	yes	6.18

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

381 targeting FMNL3, 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-6851-5P	100.00	65.63	1294
HSA-MIR-3689D	100.00	66.14	1181
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-4267	99.96	66.53	2368
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-539-5P	99.93	70.30	2855

Literature-anchored findings (GeneRIF, showing 15)

• Data suggest that the FH2 domain of FRL2 possesses properties not shared by FRL1 that allow it to generate filopodia. (PMID:20862687)
• Formin-like 3 (FMNL3) is a crucial regulator of endothelial cell elongation during angiogenesis. (PMID:22275430)
• Protein N-myristoylation plays critical roles in the cellular morphological changes induced by FMNL2 and FMNL3. (PMID:22790947)
• miR-335 regulates the expression of at least five formin family members, three of which are validated, FMNL3, FMN2 and DAAM2. (PMID:24223803)
• FMNL3 functions in assembly of actin-based protrusions that are specialized for cell-cell adhesion. (PMID:25428984)
• FMNL3 plays an important role in the progression and metastasis of colorectal carcinoma and may be a novel potential prognostic predictor in colorectal carcinoma. (PMID:25758200)
• FMNL3 interacts with Cdc42 and RhoJ, two Rho family GTPases known to be required for lumen formation. FMNL3 and RhoJ are concentrated at the early apical surface, or AMIS, and regulate the formation of radiating actin cables from this site. (PMID:26299518)
• we use a simple cellular system to examine fundamental features of formin-mediated filopodial assembly, using constitutively active constructs of the formins mDia2 and FMNL3 (PMID:26446836)
• FMNL3, the target gene of miR-127, is upregulated and acting as an oncogene in ESCC (PMID:27645894)
• Study revealed an essential role for FMNL3 in regulating the RhoC/FAK pathway and actin assembly dynamics, and the subsequent promotion of colorectal carcinoma invasion. (PMID:30228782)
• FMNL3 suppression reduces filopodial assembly by 90%, and FMNL3 is enriched at >95% of filopodial tips. (PMID:30373894)
• FMNL3 overexpression is related to the metastasis of tongue squamous cell carcinoma and poor prognosis. (PMID:30955218)
• Results demonstrated that N-myristoylation-dependent phosphorylation in FMNL3 occurs at a single Ser residue at position 174, which is a Ser residue conserved between FMNL2 and FMNL3, corresponding to Ser-171 in FMNL2. (PMID:31751425)
• Bioinformatic Prediction of Novel Signaling Pathways of Apoptosis-inducing Factor, Mitochondrion-associated 3 (AIFM3) and Their Roles in Metastasis of Cholangiocarcinoma Cells. (PMID:34949658)
• Hsa_circ_0081534 facilitates malignant phenotypes by sequestering miR-874-3p and upregulating FMNL3 in nasopharyngeal carcinoma. (PMID:35428519)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio	fmnl3	ENSDARG00000004372
mus_musculus	Fmnl3	ENSMUSG00000023008
rattus_norvegicus	Fmnl3	ENSRNOG00000056297
drosophila_melanogaster	Frl	FBGN0267795
caenorhabditis_elegans	fhod-1	WBGENE00016735
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), FMNL1 (ENSG00000184922), FAM47A (ENSG00000185448), SHTN1 (ENSG00000187164), FAM47B (ENSG00000189132), FAM47C (ENSG00000198173), INF2 (ENSG00000203485), GRID2IP (ENSG00000215045)

Protein

Protein identifiers

Formin-like protein 3 — Q8IVF7 (reviewed: Q8IVF7)

Alternative names: Formin homology 2 domain-containing protein 3, WW domain-binding protein 3

All UniProt accessions (3): Q8IVF7, F8VYL1, F8W1F5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape and migration. Required for developmental angiogenesis. In this process, required for microtubule reorganization and for efficient endothelial cell elongation. In quiescent endothelial cells, triggers rearrangement of the actin cytoskeleton, but does not alter microtubule alignement.

Subunit / interactions. Interacts with SRGAP2 (via SH3 domain).

Subcellular location. Cytoplasm. Cell membrane.

Tissue specificity. Expressed in endothelial cells.

Domain organisation. The DAD domain regulates activation via by an autoinhibitory interaction with the GBD/FH3 domain. 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.

Similarity. Belongs to the formin homology family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q8IVF7-1	1	yes
Q8IVF7-2	2
Q8IVF7-3	3

RefSeq proteins (3): NP_001354764, NP_783863, NP_944489 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR010472	FH3_dom	Domain
IPR010473	GTPase-bd	Domain
IPR011989	ARM-like	Homologous_superfamily
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 (13 total): domain 3, modified residue 3, splice variant 2, initiator methionine 1, chain 1, lipid moiety-binding region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVF7-F1	77.51	0.41

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 (4): 2, 95, 174, 1014

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-5663220	RHO GTPases Activate Formins
R-HSA-8980692	RHOA GTPase cycle
R-HSA-9013106	RHOC GTPase cycle
R-HSA-9013148	CDC42 GTPase cycle
R-HSA-9013409	RHOJ GTPase cycle

MSigDB gene sets: 233 (showing top): WWTAAGGC_UNKNOWN, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, TAL1ALPHAE47_01, GOMF_GTPASE_BINDING, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, AGGCACT_MIR5153P, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, WTGAAAT_UNKNOWN, GOBP_BLOOD_VESSEL_MORPHOGENESIS, CLAUS_PGR_POSITIVE_MENINGIOMA_DN, GOMF_ACTIN_BINDING, GOBP_CELL_PROJECTION_ORGANIZATION, SOX5_01, TAL1BETAE47_01

GO Biological Process (9): angiogenesis (GO:0001525), cytoskeleton organization (GO:0007010), regulation of cell shape (GO:0008360), cell migration (GO:0016477), actin cytoskeleton organization (GO:0030036), cortical actin cytoskeleton organization (GO:0030866), filopodium assembly (GO:0046847), cellular component organization (GO:0016043), regulation of cell morphogenesis (GO:0022604)

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 (5): cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), plasma membrane (GO:0005886), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RHO GTPase cycle	4
RHO GTPase Effectors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
blood vessel morphogenesis	1
anatomical structure formation involved in morphogenesis	1
organelle organization	1
regulation of cell morphogenesis	1
regulation of biological quality	1
cell motility	1
cytoskeleton organization	1
actin filament-based process	1
actin cytoskeleton organization	1
cortical cytoskeleton organization	1
plasma membrane bounded cell projection assembly	1
cellular component organization or biogenesis	1
cell morphogenesis	1
regulation of anatomical structure morphogenesis	1
GTPase binding	1
protein binding	1
actin binding	1
protein-containing complex binding	1
cytoskeletal protein binding	1
binding	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1136 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FMNL3	RHOC	P08134	700
FMNL3	PRPF40A	O75400	619
FMNL3	WBP4	O75554	606
FMNL3	FNBP4	Q8N3X1	604
FMNL3	VASP	P50552	590
FMNL3	DIAPH3	Q9NSV4	553
FMNL3	DES	P17661	548
FMNL3	PFN4	Q8NHR9	521
FMNL3	PFN3	P60673	501
FMNL3	FHOD1	Q9Y613	483
FMNL3	SRGAP2	O75044	470
FMNL3	FHOD3	Q2V2M9	467
FMNL3	PFN1	P07737	463
FMNL3	CTTN	Q14247	460
FMNL3	MYO6	Q9UM54	457

IntAct

155 interactions, top by confidence:

A	B	Type	Score
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
WDR55	AP3D1	psi-mi:“MI:0914”(association)	0.530
FMNL3	SNX27	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	PDZD2	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	DLG3	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	WHRN	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	FMNL3	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	GRIP2	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	MPP2	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	DLG4	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	PDZRN4	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	SCRIB	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	APBA2	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	ARHGAP21	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	PCLO	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	GOPC	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	MAGI2	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	MPDZ	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	PICK1	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	CASK	psi-mi:“MI:0407”(direct interaction)	0.440
FMNL3	LIN7A	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (47): FMNL3 (Affinity Capture-MS), FMNL3 (Affinity Capture-MS), FMNL3 (Proximity Label-MS), FMNL3 (Proximity Label-MS), FMNL3 (Two-hybrid), FMNL3 (Proximity Label-MS), FMNL3 (Proximity Label-MS), FMNL3 (Proximity Label-MS), FMNL3 (Far Western), FMNL3 (Affinity Capture-MS), FMNL3 (Affinity Capture-MS), UBXN7 (Affinity Capture-MS), DCAF6 (Affinity Capture-MS), PALM2-AKAP2 (Affinity Capture-MS), METAP2 (Affinity Capture-MS)

ESM2 similar proteins: A0A1D5P556, A0A3Q1LSX9, A2A5R2, A2APV2, B0DOB5, B2RQE8, D3ZYR1, D4A631, F1LVW7, F1M775, F4IUX6, G3X9K3, O08808, O46382, O60308, O60610, O75674, O95466, Q07139, Q0IHV1, Q0JRZ9, Q3UQN2, Q4S6U8, Q5MIZ7, Q5R807, Q5SP90, Q6DFT3, Q6IN85, Q6INN7, Q6NTV6, Q6NXC0, Q6P2K6, Q6ZPF4, Q7TSU1, Q7ZX60, Q801Q7, Q80U19, Q86T65, Q8BPM0, Q8IVF7

Diamond homologs: A0A3Q1LSX9, A2APV2, O23373, O95466, Q0D5P3, Q69MT2, Q6H7U3, Q6NTV6, Q6NXC0, Q6ZPF4, Q8IVF7, Q96PY5, Q9JL26, Q9VUC6, Q0D519, Q0GNC1, Q27J81, Q6MWG9, Q94B77, A0A1D5P556, A2XUA1, A2YVG8, A3AB67, B0DOB5, F1LVW7, O04532, O22824, O48682, P0C5K5, Q0DLG0, Q10Q99, Q24120, Q54PI9, Q5TJ56, Q6ZKB2, Q7XUV2, Q7XWS7, Q80U19, Q84ZL0, Q8BPM0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 113 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
Ras activation upon Ca2+ influx through NMDA receptor	5	39.6×	1e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	37.8×	1e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	37.8×	1e-05
Assembly and cell surface presentation of NMDA receptors	10	35.2×	3e-11
Dopamine Neurotransmitter Release Cycle	5	34.5×	2e-05
Long-term potentiation	5	33.0×	2e-05
Neurexins and neuroligins	11	30.1×	2e-11
Protein-protein interactions at synapses	7	25.8×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	60.9×	7e-15
protein localization to synapse	6	43.8×	6e-07
receptor clustering	7	41.6×	8e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	33.0×	3e-07
bicellular tight junction assembly	6	18.9×	5e-05
cell-cell adhesion	11	10.6×	8e-07
protein-containing complex assembly	9	9.8×	3e-05
Golgi organization	6	7.6×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	200
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

7007 predictions. Top by Δscore:

Variant	Effect	Δscore
12:49636712:TTAGA:T	acceptor_loss	1.0000
12:49636713:TAGAC:T	acceptor_loss	1.0000
12:49636714:A:AG	acceptor_gain	1.0000
12:49636715:G:GG	acceptor_gain	1.0000
12:49636715:GAC:G	acceptor_gain	1.0000
12:49636715:GACAT:G	acceptor_gain	1.0000
12:49636838:G:GT	donor_gain	1.0000
12:49636849:GGTAT:G	donor_loss	1.0000
12:49636850:G:GA	donor_loss	1.0000
12:49636851:T:G	donor_loss	1.0000
12:49637820:TTAAG:T	donor_loss	1.0000
12:49637821:TAAG:T	donor_loss	1.0000
12:49637822:AAG:A	donor_loss	1.0000
12:49637823:AG:A	donor_loss	1.0000
12:49637824:GG:G	donor_loss	1.0000
12:49637825:GT:G	donor_loss	1.0000
12:49637826:T:G	donor_loss	1.0000
12:49641992:G:GT	donor_gain	1.0000
12:49642010:C:G	donor_gain	1.0000
12:49642020:ATAGT:A	donor_gain	1.0000
12:49642021:TAGT:T	donor_gain	1.0000
12:49642023:GT:G	donor_gain	1.0000
12:49642025:G:GG	donor_gain	1.0000
12:49642030:GGGC:G	donor_gain	1.0000
12:49642048:G:GT	donor_gain	1.0000
12:49642048:G:T	donor_gain	1.0000
12:49642304:G:GT	donor_gain	1.0000
12:49642304:G:T	donor_gain	1.0000
12:49642352:C:G	donor_gain	1.0000
12:49642572:C:CA	acceptor_gain	1.0000

AlphaMissense

6760 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000008830 (12:49693460 C>A,T), RS1000016086 (12:49637274 T>G), RS1000055983 (12:49641230 G>A), RS1000086690 (12:49641547 C>T), RS1000140851 (12:49668894 A>G), RS1000173867 (12:49669157 T>C), RS1000199651 (12:49672932 G>A), RS1000310461 (12:49700261 G>A), RS1000364314 (12:49661876 T>C,G), RS1000366917 (12:49707027 G>A,T), RS1000450063 (12:49640449 A>C,T), RS1000455260 (12:49654927 T>C), RS1000497585 (12:49651869 G>C), RS1000524843 (12:49686612 C>A), RS1000599434 (12:49681568 C>T)

Disease associations

OMIM: gene MIM:616288 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
Benzo(a)pyrene	decreases expression, increases expression	2
Estradiol	affects cotreatment, increases expression	2
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
sodium arsenite	affects expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	increases expression	1
benzo(e)pyrene	increases methylation	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arbutin	decreases expression	1
Arsenic	affects methylation	1
Methapyrilene	increases methylation	1
Ozone	affects expression, increases abundance	1
Rotenone	decreases expression	1
Valproic Acid	affects expression	1
Vincristine	increases expression	1
Levonorgestrel	decreases expression, affects cotreatment	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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