ATP6V1F

Summary

ATP6V1F (ATPase H+ transporting V1 subunit F, HGNC:16832) is a protein-coding gene on chromosome 7q32.1, encoding V-type proton ATPase subunit F (Q16864). Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. It is a common-essential gene (DepMap: required in 98.5% of cancer cell lines).

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c’, c", and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is the V1 domain F subunit protein.

Source: NCBI Gene 9296 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 23 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 98.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_004231

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16832
Approved symbol	ATP6V1F
Name	ATPase H+ transporting V1 subunit F
Location	7q32.1
Locus type	gene with protein product
Status	Approved
Aliases	ATP6S14, VATF, Vma7
Ensembl gene	ENSG00000128524
Ensembl biotype	protein_coding
OMIM	607160
Entrez	9296

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000249289, ENST00000492758

RefSeq mRNA: 2 — MANE Select: NM_004231 NM_001198909, NM_004231

CCDS: CCDS56511, CCDS5807

Canonical transcript exons

ENST00000249289 — 2 exons

Exon	Start	End
ENSE00001121849	128862856	128863062
ENSE00001876823	128865377	128865847

Expression profiles

Bgee: expression breadth ubiquitous, 294 present calls, max score 99.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 181.6554 / max 1438.2112, expressed in 1829 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
80983	173.1406	1829
80984	3.7591	1516
80982	2.8836	1459
80986	1.4924	170
80981	0.2525	94
80985	0.1273	47

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
prefrontal cortex	UBERON:0000451	99.14	gold quality
left testis	UBERON:0004533	99.12	gold quality
right testis	UBERON:0004534	99.10	gold quality
right frontal lobe	UBERON:0002810	99.09	gold quality
adult organism	UBERON:0007023	99.05	gold quality
cingulate cortex	UBERON:0003027	99.00	gold quality
anterior cingulate cortex	UBERON:0009835	98.98	gold quality
monocyte	CL:0000576	98.97	gold quality
nucleus accumbens	UBERON:0001882	98.96	gold quality
amygdala	UBERON:0001876	98.94	gold quality
mononuclear cell	CL:0000842	98.88	gold quality
leukocyte	CL:0000738	98.85	gold quality
metanephros cortex	UBERON:0010533	98.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.81	gold quality
Brodmann (1909) area 9	UBERON:0013540	98.79	gold quality
caudate nucleus	UBERON:0001873	98.76	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	98.75	gold quality
cerebellar cortex	UBERON:0002129	98.72	gold quality
cerebellar hemisphere	UBERON:0002245	98.72	gold quality
adult mammalian kidney	UBERON:0000082	98.68	gold quality
hypothalamus	UBERON:0001898	98.68	gold quality
pons	UBERON:0000988	98.67	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.67	gold quality
frontal cortex	UBERON:0001870	98.64	gold quality
putamen	UBERON:0001874	98.62	gold quality
neocortex	UBERON:0001950	98.60	gold quality
esophagus mucosa	UBERON:0002469	98.56	gold quality
cortical plate	UBERON:0005343	98.54	gold quality
cerebellum	UBERON:0002037	98.53	gold quality
lower esophagus mucosa	UBERON:0035834	98.51	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 12.

Experiment	Marker?	Max mean expression
E-HCAD-1	yes	85.82
E-CURD-122	yes	66.43
E-MTAB-6701	yes	50.97
E-MTAB-8410	yes	44.24
E-HCAD-10	yes	37.27
E-CURD-88	yes	29.36
E-CURD-46	yes	18.81
E-MTAB-10042	yes	10.66
E-CURD-114	yes	10.03
E-GEOD-137537	yes	4.65
E-MTAB-5061	yes	4.18
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting ATP6V1F, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Results show that NiK-12192, by affecting vacuolar- H(+)-ATPase activity (and intracellular pH), causes a modification of structures crucial for cell adhesion and induces cell death, likely by a modality involving an anoikis-mediated apoptosis. (PMID:19723111)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	atp6v1f	ENSDARG00000045543
mus_musculus	Atp6v1f	ENSMUSG00000004285
rattus_norvegicus	Ang	ENSRNOG00000064609
rattus_norvegicus		ENSRNOG00000065235
drosophila_melanogaster	Vha14-2	FBGN0037402
caenorhabditis_elegans		WBGENE00006918

Protein

Protein identifiers

V-type proton ATPase subunit F — Q16864 (reviewed: Q16864)

Alternative names: V-ATPase 14 kDa subunit, Vacuolar proton pump subunit F

All UniProt accessions (2): Q16864, A4D1K0

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment.

Subunit / interactions. V-ATPase is a heteromultimeric enzyme made up of two complexes: the ATP-hydrolytic V1 complex and the proton translocation V0 complex. The V1 complex consists of three catalytic AB heterodimers that form a heterohexamer, three peripheral stalks each consisting of EG heterodimers, one central rotor including subunits D and F, and the regulatory subunits C and H. The proton translocation complex V0 consists of the proton transport subunit a, a ring of proteolipid subunits c9c’’, rotary subunit d, subunits e and f, and the accessory subunits ATP6AP1/Ac45 and ATP6AP2/PRR.

Subcellular location. Cytoplasmic vesicle. Secretory vesicle. Synaptic vesicle membrane. Clathrin-coated vesicle membrane.

Similarity. Belongs to the V-ATPase F subunit family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q16864-1	1	yes
Q16864-2	2

RefSeq proteins (2): NP_001185838, NP_004222* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005772	ATPase_V1-cplx_fsu_euk	Family
IPR008218	ATPase_V1-cplx_f_g_su	Family
IPR036906	ATPase_V1_fsu_sf	Homologous_superfamily

Pfam: PF01990

UniProt features (16 total): strand 7, helix 4, chain 1, splice variant 1, turn 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
6WLZ	ELECTRON MICROSCOPY	2.9
6WM2	ELECTRON MICROSCOPY	3.1
6WM3	ELECTRON MICROSCOPY	3.4
9CF8	ELECTRON MICROSCOPY	3.46
9CFC	ELECTRON MICROSCOPY	3.47
6WM4	ELECTRON MICROSCOPY	3.6
7U4T	ELECTRON MICROSCOPY	3.6
7UNF	ELECTRON MICROSCOPY	4.08

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16864-F1	86.91	0.63

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-1222556	ROS and RNS production in phagocytes
R-HSA-77387	Insulin receptor recycling
R-HSA-917977	Transferrin endocytosis and recycling
R-HSA-9639288	Amino acids regulate mTORC1
R-HSA-983712	Ion channel transport
R-HSA-9857377	Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy

MSigDB gene sets: 213 (showing top): REACTOME_SIGNALING_BY_INSULIN_RECEPTOR, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_ENDOSOME_ORGANIZATION, TGCGCANK_UNKNOWN, GOBP_VACUOLE_ORGANIZATION, GOCC_VACUOLAR_MEMBRANE, GOBP_VESICLE_ORGANIZATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, MORF_UBE2I, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, HSIAO_HOUSEKEEPING_GENES, GOBP_VESICLE_MEDIATED_TRANSPORT, MORF_PSMC2, GOBP_MONOATOMIC_CATION_TRANSPORT, MODULE_492

GO Biological Process (9): vacuolar acidification (GO:0007035), lysosomal lumen acidification (GO:0007042), endosomal lumen acidification (GO:0048388), intracellular pH reduction (GO:0051452), Golgi lumen acidification (GO:0061795), synaptic vesicle lumen acidification (GO:0097401), proton transmembrane transport (GO:1902600), monoatomic ion transport (GO:0006811), monoatomic ion transmembrane transport (GO:0034220)

GO Molecular Function (4): proton transmembrane transporter activity (GO:0015078), ATPase-coupled ion transmembrane transporter activity (GO:0042625), proton-transporting ATPase activity, rotational mechanism (GO:0046961), protein binding (GO:0005515)

GO Cellular Component (15): Golgi membrane (GO:0000139), vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221), lysosomal membrane (GO:0005765), cytosol (GO:0005829), plasma membrane (GO:0005886), endosome membrane (GO:0010008), membrane (GO:0016020), vacuolar proton-transporting V-type ATPase complex (GO:0016471), clathrin-coated vesicle membrane (GO:0030665), synaptic vesicle membrane (GO:0030672), proton-transporting V-type ATPase complex (GO:0033176), extracellular exosome (GO:0070062), cytoplasmic vesicle (GO:0031410), proton-transporting V-type ATPase, V1 domain (GO:0033180), synapse (GO:0045202)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Innate Immune System	1
Signaling by Insulin receptor	1
Iron uptake and transport	1
Cellular response to starvation	1
Transport of small molecules	1
MITF-M-dependent gene expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular pH reduction	3
proton transmembrane transport	2
bounding membrane of organelle	2
cytoplasm	2
cellular anatomical structure	2
proton-transporting V-type ATPase complex	2
vacuolar acidification	1
endosome organization	1
regulation of intracellular pH	1
intercellular transport	1
synaptic vesicle maturation	1
establishment of localization in cell	1
neuron cellular homeostasis	1
synaptic vesicle cycle	1
monoatomic cation transmembrane transport	1
transport	1
monoatomic ion transport	1
transmembrane transport	1
monoatomic cation transmembrane transporter activity	1
ATPase-coupled transmembrane transporter activity	1
proton transmembrane transporter activity	1
ATPase-coupled monoatomic cation transmembrane transporter activity	1
ATPase activity, coupled to transmembrane movement of ions, rotational mechanism	1
binding	1
Golgi apparatus	1
vacuole	1
vacuolar proton-transporting V-type ATPase complex	1
proton-transporting V-type ATPase, V1 domain	1
lysosome	1
lytic vacuole membrane	1
membrane	1
cell periphery	1
endosome	1
cytoplasmic vesicle membrane	1
vacuolar membrane	1
clathrin-coated vesicle	1
coated vesicle membrane	1
synaptic vesicle	1
exocytic vesicle membrane	1
proton-transporting two-sector ATPase complex	1

Protein interactions and networks

STRING

1937 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP6V1F	ATP6V1D	Q9Y5K8	940
ATP6V1F	ATP6V0C	P27449	921
ATP6V1F	ATP6V1E1	P36543	873
ATP6V1F	ATP6V1B2	P21281	866
ATP6V1F	ATP6V1C1	P21283	857
ATP6V1F	ATP6V0B	Q99437	854
ATP6V1F	ATP6V1G1	O75348	843
ATP6V1F	ATP6V1A	P38606	834
ATP6V1F	ATP6V0D1	P12953	834
ATP6V1F	ATP6V1G3	Q96LB4	818
ATP6V1F	ATP6V1C2	Q8NEY4	815
ATP6V1F	ATP6V0A1	Q93050	806
ATP6V1F	ATP6V1B1	P15313	799
ATP6V1F	ATP6V1G2	O95670	798
ATP6V1F	ATP6V1E2	Q96A05	794

IntAct

91 interactions, top by confidence:

A	B	Type	Score
ATP6V1F	ATP6V1D	psi-mi:“MI:0915”(physical association)	0.740
ATP6AP2	ATP6V0C	psi-mi:“MI:0914”(association)	0.730
ATP6V0A2	ATP6AP2	psi-mi:“MI:0914”(association)	0.730
TCIRG1	ATP6AP2	psi-mi:“MI:0914”(association)	0.640
ATP6V1C2	ATP6V1G1	psi-mi:“MI:0914”(association)	0.640
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
PLXDC2	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
ATP6V0A2	B4GALT3	psi-mi:“MI:0914”(association)	0.530
ATP6AP2	ATP6V1C1	psi-mi:“MI:0914”(association)	0.530
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
ATP6V1A	ATP6V1G1	psi-mi:“MI:0914”(association)	0.530
ATP6V1B2	ATP6V1G1	psi-mi:“MI:0914”(association)	0.530
TCIRG1	AP3D1	psi-mi:“MI:0914”(association)	0.530
ATP6AP2	CLGN	psi-mi:“MI:0914”(association)	0.530
ATP6V0A1	ATP6AP2	psi-mi:“MI:0914”(association)	0.530
ATP6V0A4	ATP6AP2	psi-mi:“MI:0914”(association)	0.530
ATP6V0A1	ATP6V1G1	psi-mi:“MI:0914”(association)	0.530
ATP6V1G2	ATP6V1B1	psi-mi:“MI:0914”(association)	0.530
GPC1	SNAP23	psi-mi:“MI:0915”(physical association)	0.400
GPC1	ATP6V1B2	psi-mi:“MI:0915”(physical association)	0.400
GPC1	GANAB	psi-mi:“MI:0915”(physical association)	0.400
Rmdn3	DERL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (186): ATP6V1F (Affinity Capture-RNA), ATP6V1F (Affinity Capture-MS), ATP6V1F (Affinity Capture-MS), ATP6V1F (Affinity Capture-MS), AIMP1 (Co-fractionation), ATP6V1F (Co-fractionation), ATP6V1F (Co-fractionation), ATP6V1F (Co-fractionation), ATP6V1F (Co-fractionation), ATP6V1F (Co-fractionation), ATP6V1F (Co-fractionation), ATP6V1F (Co-fractionation), ATP6V1F (Proximity Label-MS), ATP6V1F (Proximity Label-MS), ATP6V1F (Proximity Label-MS)

ESM2 similar proteins: A1CUK5, A1DP85, A4FUD3, A4RJH4, A5AB13, A8XT81, E9Q4Z2, F2Z4H3, O00763, O08810, O49074, O64981, O81097, O98997, P10871, P10896, P50408, P52434, P93431, Q01587, Q15029, Q16864, Q19826, Q1E3N5, Q28029, Q28EX9, Q2H334, Q2KJD7, Q2TYB1, Q40073, Q40460, Q40565, Q42450, Q4WLG1, Q5F3X4, Q5FWT7, Q5R4C4, Q5R6E0, Q5ZJJ8, Q641F1

Diamond homologs: A1DH48, A6RRW0, A7TMI5, C6A5E9, O43046, O44091, P31478, P39111, P50408, Q16864, Q17029, Q1HQK8, Q23680, Q24583, Q28029, Q55AH5, Q9D1K2, Q9I8H3, Q9VNL3, Q9Y756, Q9ZQX4, C5A335, Q5JIR4, Q8U4A7, Q9UXU6, A6UP53, A6UT34, B6YV13, A4FXD5, A6VFZ1, A9AAQ5, O06503, O27037, O29102, O57727, P74903, Q48331, Q57671, Q6LYE8, Q72J71

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ATP6V1F	“form complex”	V-ATPase	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 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
Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy	10	96.0×	6e-17
Insulin receptor recycling	16	87.0×	3e-26
Transferrin endocytosis and recycling	15	78.9×	7e-24
ROS and RNS production in phagocytes	15	72.0×	3e-23
Amino acids regulate mTORC1	13	37.2×	6e-16
Ion channel transport	16	21.9×	6e-16
Neutrophil degranulation	11	3.6×	1e-02

GO biological processes:

GO term	Partners	Fold	FDR
synaptic vesicle lumen acidification	12	124.8×	3e-21
vacuolar acidification	12	97.7×	9e-20
lysosomal lumen acidification	8	59.9×	5e-11
proton transmembrane transport	13	45.1×	2e-16
regulation of macroautophagy	13	42.7×	3e-16
cilium assembly	7	5.7×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	18
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3245795	NC_000007.13:g.(?128494167)(128545556_?)del	Pathogenic

SpliceAI

392 predictions. Top by Δscore:

Variant	Effect	Δscore
7:128865372:CACA:C	acceptor_loss	1.0000
7:128865374:CA:C	acceptor_loss	1.0000
7:128865375:A:AG	acceptor_gain	1.0000
7:128865375:A:AT	acceptor_loss	1.0000
7:128865376:G:GG	acceptor_gain	1.0000
7:128865376:GGCA:G	acceptor_gain	1.0000
7:128865376:GGCAA:G	acceptor_gain	1.0000
7:128863059:TCCG:T	donor_loss	0.9900
7:128863060:CCG:C	donor_loss	0.9900
7:128863063:G:GG	donor_gain	0.9900
7:128863063:GTACG:G	donor_loss	0.9900
7:128863064:T:A	donor_loss	0.9900
7:128863107:TG:T	donor_gain	0.9900
7:128863108:GG:G	donor_gain	0.9900
7:128865371:CCACA:C	acceptor_loss	0.9900
7:128865373:ACAG:A	acceptor_gain	0.9900
7:128865375:AG:A	acceptor_gain	0.9900
7:128865376:GG:G	acceptor_gain	0.9900
7:128865376:GGC:G	acceptor_gain	0.9900
7:128865373:A:AG	acceptor_gain	0.9800
7:128865374:C:G	acceptor_gain	0.9800
7:128863018:G:GA	donor_gain	0.9300
7:128863245:TCCAC:T	donor_gain	0.8900
7:128864732:C:G	donor_gain	0.8900
7:128864702:G:GG	donor_gain	0.8800
7:128863066:C:CA	donor_gain	0.8600
7:128864795:T:A	donor_gain	0.8600
7:128863049:G:GT	donor_gain	0.8500
7:128864705:A:AG	donor_gain	0.8500
7:128863060:CCGGT:C	donor_gain	0.8400

AlphaMissense

786 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:128862930:C:A	A9E	1.000
7:128862938:G:A	G12R	1.000
7:128862938:G:C	G12R	1.000
7:128862939:G:A	G12E	1.000
7:128862939:G:T	G12V	1.000
7:128862959:G:C	G19R	1.000
7:128862960:G:A	G19D	1.000
7:128862966:T:C	L21P	1.000
7:128862980:G:T	G26W	1.000
7:128862981:G:A	G26E	1.000
7:128862981:G:T	G26V	1.000
7:128863009:T:A	N35K	1.000
7:128863009:T:G	N35K	1.000
7:128863010:T:C	F36L	1.000
7:128863012:C:A	F36L	1.000
7:128863012:C:G	F36L	1.000
7:128865412:T:C	L65P	1.000
7:128865481:T:A	V88D	1.000
7:128862929:G:C	A9P	0.999
7:128862941:G:C	D13H	0.999
7:128862942:A:T	D13V	0.999
7:128862951:C:A	T16K	0.999
7:128862954:T:A	V17E	0.999
7:128862959:G:T	G19C	0.999
7:128862960:G:T	G19V	0.999
7:128862963:T:C	F20S	0.999
7:128862969:T:C	L22P	0.999
7:128862971:G:C	G23R	0.999
7:128862972:G:A	G23D	0.999
7:128862974:G:C	G24R	0.999

dbSNP variants (sampled 300 via entrez): RS1000214778 (7:128864153 G>C), RS1000439526 (7:128862479 CGT>C), RS1000552330 (7:128862782 A>C,G), RS1000842254 (7:128864168 A>G), RS1001162110 (7:128866041 G>T), RS1003163330 (7:128861975 A>G), RS1003518681 (7:128862191 C>T), RS1006332983 (7:128864558 A>G), RS1006350427 (7:128862170 C>T), RS1006405846 (7:128861940 A>G), RS1006924211 (7:128865921 G>A), RS1007068943 (7:128864889 A>G,T), RS1007409131 (7:128863284 A>G), RS1007459718 (7:128863087 C>T), RS1008019707 (7:128861418 A>G,T)

Disease associations

OMIM: gene MIM:607160 | disease phenotypes: MIM:609524, MIM:614065, MIM:617047

GenCC curated gene-disease

Mondo (3): myofibrillar myopathy 5 (MONDO:0012289), distal myopathy with posterior leg and anterior hand involvement (MONDO:0013550), hypertrophic cardiomyopathy 26 (MONDO:0014883)

Orphanet (3): Muscle filaminopathy (Orphanet:171445), FLNC-related handgrip and calf weakness-distal myopathy (Orphanet:63273), Familial isolated restrictive cardiomyopathy (Orphanet:75249)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004401_3	Reading disability or specific language impairment (pleiotropy)	4.000000e-07
GCST004402_3	Reading disability or specific language impairment adjusted for intelligence quotient (pleiotropy)	3.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537932	Filaminopathy, autosomal dominant (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — V-type ATPase

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression, increases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, decreases methylation	1
arsenite	affects binding, increases reaction	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	increases expression	1
abrine	increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Copper	affects cotreatment, increases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	increases expression	1
Isoniazid	increases expression	1
Ivermectin	decreases expression	1
Rotenone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Aflatoxin B1	increases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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