ATP5MK

Summary

ATP5MK (ATP synthase membrane subunit k, HGNC:30889) is a protein-coding gene on chromosome 10q24.33, encoding ATP synthase F(0) complex subunit k, mitochondrial (Q96IX5). Subunit k, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain.

Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6.

Source: NCBI Gene 84833 — RefSeq curated summary.

At a glance

• Gene–disease (curated): mitochondrial disease (Moderate, ClinGen) — +2 more curated relationships
• GWAS associations: 7
• Clinical variants (ClinVar): 25 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 46
• Druggable target: yes
• MANE Select transcript: NM_001206427

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30889
Approved symbol	ATP5MK
Name	ATP synthase membrane subunit k
Location	10q24.33
Locus type	gene with protein product
Status	Approved
Aliases	MGC14697, bA792D24.4, DAPIT, AGP
Ensembl gene	ENSG00000173915
Ensembl biotype	protein_coding
OMIM	615204
Entrez	84833

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 32 protein_coding

ENST00000309579, ENST00000337003, ENST00000369811, ENST00000369815, ENST00000369825, ENST00000876173, ENST00000876174, ENST00000876175, ENST00000876176, ENST00000876177, ENST00000876178, ENST00000876179, ENST00000876180, ENST00000876181, ENST00000940566, ENST00000940567, ENST00000940568, ENST00000940569, ENST00000940570, ENST00000940571, ENST00000940572, ENST00000940573, ENST00000940574, ENST00000940575, ENST00000940576, ENST00000940577, ENST00000940578, ENST00000940579, ENST00000940580, ENST00000940581, ENST00000951950, ENST00000951951

RefSeq mRNA: 3 — MANE Select: NM_001206427 NM_001206426, NM_001206427, NM_032747

CCDS: CCDS7548

Canonical transcript exons

ENST00000369815 — 5 exons

Exon	Start	End
ENSE00001192167	103392191	103392283
ENSE00001192172	103392371	103392466
ENSE00001357016	103389050	103389166
ENSE00001450981	103395746	103396032
ENSE00001450982	103396409	103396475

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 99.80.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 178.0003 / max 1434.6800, expressed in 1825 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
111225	178.0003	1825

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
quadriceps femoris	UBERON:0001377	99.80	gold quality
heart left ventricle	UBERON:0002084	99.69	gold quality
primary visual cortex	UBERON:0002436	99.67	gold quality
superior frontal gyrus	UBERON:0002661	99.62	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.61	gold quality
heart	UBERON:0000948	99.60	gold quality
right atrium auricular region	UBERON:0006631	99.60	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.60	gold quality
prefrontal cortex	UBERON:0000451	99.56	gold quality
amygdala	UBERON:0001876	99.55	gold quality
nucleus accumbens	UBERON:0001882	99.53	gold quality
cerebral cortex	UBERON:0000956	99.52	gold quality
putamen	UBERON:0001874	99.52	gold quality
right frontal lobe	UBERON:0002810	99.52	gold quality
caudate nucleus	UBERON:0001873	99.51	gold quality
frontal cortex	UBERON:0001870	99.50	gold quality
hypothalamus	UBERON:0001898	99.50	gold quality
apex of heart	UBERON:0002098	99.50	gold quality
mucosa of transverse colon	UBERON:0004991	99.50	gold quality
Ammon’s horn	UBERON:0001954	99.49	gold quality
substantia nigra	UBERON:0002038	99.49	gold quality
cerebellar vermis	UBERON:0004720	99.49	gold quality
anterior cingulate cortex	UBERON:0009835	99.48	gold quality
temporal lobe	UBERON:0001871	99.45	gold quality
cortex of kidney	UBERON:0001225	99.44	gold quality
muscle of leg	UBERON:0001383	99.44	gold quality
rectum	UBERON:0001052	99.43	gold quality
gastrocnemius	UBERON:0001388	99.43	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.42	gold quality
transverse colon	UBERON:0001157	99.40	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-89232	yes	3840.53
E-MTAB-8410	yes	52.48
E-HCAD-10	yes	31.12
E-GEOD-134144	yes	29.32
E-MTAB-6701	yes	17.89
E-ANND-3	yes	17.19
E-MTAB-10042	yes	11.41
E-MTAB-7316	yes	9.45
E-GEOD-125970	no	41.41

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

15 targeting ATP5MK, 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-4673	100.00	66.64	1490
HSA-MIR-493-5P	99.96	72.47	2382
HSA-LET-7C-3P	99.95	73.42	2862
HSA-LET-7A-2-3P	99.87	70.53	1921
HSA-LET-7G-3P	99.85	70.43	1929
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-548B-3P	99.38	67.26	1000
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-32-3P	99.36	68.20	2517
HSA-MIR-1272	99.34	68.79	878
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-655-5P	98.74	65.93	888
HSA-MIR-571	95.38	66.54	671
HSA-MIR-8059	95.11	66.30	646
HSA-MIR-4471	95.11	66.84	755

Literature-anchored findings (GeneRIF, showing 4)

• a critical role of DAPIT in maintaining the ATP synthase population in mitochondria and raise an intriguing possibility of active role of DAPIT in cellular energy metabolism. (PMID:21345788)
• confirm the mitochondrial presence of DAPIT on cellular level. We also show that DAPIT is localized in lysosomes of HUVEC and HEK 293T cells (PMID:22688299)
• DAPIT over-expression thus appears to modulate mitochondrial functions and alter cellular regulations, promote anaerobic metabolism and induce EMT-like transition. (PMID:26161955)
• To determine whether USMG5 is related to the development of heart failure, authors performed clinical and experimental studies. Microarray analysis showed that the expression levels of USMG5 were positively correlated with those of natriuretic peptide precursor A in the human failed myocardium. (PMID:29234032)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Atp5mk	ENSMUSG00000071528
rattus_norvegicus	Atp5mk	ENSRNOG00000020296
rattus_norvegicus	Atp5mk-ps2	ENSRNOG00000042869
rattus_norvegicus	Atp5mk	ENSRNOG00000067471

Protein

Protein identifiers

ATP synthase F(0) complex subunit k, mitochondrial — Q96IX5 (reviewed: Q96IX5)

Alternative names: ATP synthase membrane subunit DAPIT, mitochondrial, Diabetes-associated protein in insulin-sensitive tissues, HCV F-transactivated protein 2, Up-regulated during skeletal muscle growth protein 5

All UniProt accessions (1): Q96IX5

UniProt curated annotations — full annotation on UniProt →

Function. Subunit k, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. ATP synthase complex consist of a soluble F(1) head domain - the catalytic core - and a membrane F(1) domain - the membrane proton channel. These two domains are linked by a central stalk rotating inside the F(1) region and a stationary peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. In vivo, can only synthesize ATP although its ATP hydrolase activity can be activated artificially in vitro. Part of the complex F(0) domain. Required for dimerization of the ATP synthase complex and as such regulates ATP synthesis in the mitochondria.

Subunit / interactions. Component of the ATP synthase complex composed at least of ATP5F1A/subunit alpha, ATP5F1B/subunit beta, ATP5MC1/subunit c (homooctamer), MT-ATP6/subunit a, MT-ATP8/subunit 8, ATP5ME/subunit e, ATP5MF/subunit f, ATP5MG/subunit g, ATP5MK/subunit k, ATP5MJ/subunit j, ATP5F1C/subunit gamma, ATP5F1D/subunit delta, ATP5F1E/subunit epsilon, ATP5PF/subunit F6, ATP5PB/subunit b, ATP5PD/subunit d, ATP5PO/subunit OSCP. ATP synthase complex consists of a soluble F(1) head domain (subunits alpha(3) and beta(3)) - the catalytic core - and a membrane F(0) domain - the membrane proton channel (subunits c, a, 8, e, f, g, k and j). These two domains are linked by a central stalk (subunits gamma, delta, and epsilon) rotating inside the F1 region and a stationary peripheral stalk (subunits F6, b, d, and OSCP). The ATP synthase complex/complex V exists as a monomeric and a dimeric supercomplex that helps shape mitochondrial cristae to optimize proton flow.

Subcellular location. Mitochondrion membrane.

Disease relevance. Mitochondrial complex V deficiency, nuclear type 6 (MC5DN6) [MIM:618683] An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome. The disease is caused by variants affecting the gene represented in this entry.

Induction. Transactivated by SBP1.

RefSeq proteins (3): NP_001193355, NP_001193356, NP_116136 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009125	ATPMK	Family

Pfam: PF14960

UniProt features (5 total): modified residue 2, initiator methionine 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96IX5-F1	77.03	0.26

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 (2): 16, 17

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-163210	Formation of ATP by chemiosmotic coupling
R-HSA-8949613	Cristae formation
R-HSA-1428517	Aerobic respiration and respiratory electron transport
R-HSA-1430728	Metabolism
R-HSA-1592230	Mitochondrial biogenesis
R-HSA-1852241	Organelle biogenesis and maintenance

MSigDB gene sets: 231 (showing top): GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, REACTOME_FORMATION_OF_ATP_BY_CHEMIOSMOTIC_COUPLING, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MODULE_205, MODULE_239, GOBP_ATP_BIOSYNTHETIC_PROCESS, ROZANOV_MMP14_TARGETS_UP, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE

GO Biological Process (1): proton motive force-driven ATP synthesis (GO:0015986)

GO Molecular Function (0):

GO Cellular Component (5): mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), proton-transporting ATP synthase complex (GO:0045259), membrane (GO:0016020), mitochondrial membrane (GO:0031966)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Aerobic respiration and respiratory electron transport	1
Mitochondrial biogenesis	1
Metabolism	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ATP biosynthetic process	1
cytoplasm	1
intracellular membrane-bounded organelle	1
organelle inner membrane	1
mitochondrial membrane	1
proton-transporting two-sector ATPase complex	1
cation channel complex	1
respiratory chain complex	1
catalytic complex	1
cellular anatomical structure	1
mitochondrion	1
mitochondrial envelope	1
organelle membrane	1

Protein interactions and networks

STRING

1426 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ATP5MK	ATP5MJ	P56378	867
ATP5MK	MT-ATP8	P03928	685
ATP5MK	MT-ATP6	P00846	610
ATP5MK	ATP5PO	P48047	529
ATP5MK	ATP5PB	P24539	519
ATP5MK	ATP5F1E	P56381	504
ATP5MK	COX14	Q96I36	498
ATP5MK	ATP5F1D	P30049	485
ATP5MK	GSTO1	P78417	467
ATP5MK	HIGD1A	Q9Y241	462
ATP5MK	ATP5IF1	Q9UII2	454
ATP5MK	TIMM8B	Q9Y5J9	440
ATP5MK	SFXN2	Q96NB2	438
ATP5MK	HIGD2A	Q9BW72	435
ATP5MK	HACD4	Q5VWC8	426

IntAct

132 interactions, top by confidence:

A	B	Type	Score
PIGS	GPAA1	psi-mi:“MI:0914”(association)	0.760
NRBP1	TSC22D2	psi-mi:“MI:0914”(association)	0.730
PKN3	ARHGAP10	psi-mi:“MI:0914”(association)	0.680
ILK	HAX1	psi-mi:“MI:0914”(association)	0.530
SLCO4C1	CLGN	psi-mi:“MI:0914”(association)	0.530
ERBB2	HAX1	psi-mi:“MI:0914”(association)	0.530
ATP5MK	PEX19	psi-mi:“MI:0915”(physical association)	0.400
	TK2	psi-mi:“MI:0915”(physical association)	0.400
ATP5MK	ADRM1	psi-mi:“MI:0915”(physical association)	0.400
ARAF	PPP6C	psi-mi:“MI:0914”(association)	0.350
BLK	EEF1E1	psi-mi:“MI:0914”(association)	0.350
LIMK2	CALU	psi-mi:“MI:0914”(association)	0.350
OTUB1		psi-mi:“MI:0914”(association)	0.350
OTUB1	EPM2A	psi-mi:“MI:0914”(association)	0.350
Itgb1	SSR3	psi-mi:“MI:0914”(association)	0.350
Timeless	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
Crebbp	ATF7	psi-mi:“MI:0914”(association)	0.350
RAPGEF2	BDP1	psi-mi:“MI:0914”(association)	0.350
Ube2i	POM121C	psi-mi:“MI:0914”(association)	0.350
MPHOSPH8	HCFC1	psi-mi:“MI:0914”(association)	0.350
Get4	BAG6	psi-mi:“MI:0914”(association)	0.350
SPATS2L	CUX1	psi-mi:“MI:0914”(association)	0.350
ARMC6		psi-mi:“MI:0914”(association)	0.350
Hsph1	USP9Y	psi-mi:“MI:0914”(association)	0.350
Kif4	RNF213	psi-mi:“MI:0914”(association)	0.350
Dnaaf5	XPOT	psi-mi:“MI:0914”(association)	0.350
REEP5	CNOT1	psi-mi:“MI:0914”(association)	0.350
CBX4	SDC2	psi-mi:“MI:0914”(association)	0.350
TUBA1C	TCP11L2	psi-mi:“MI:0914”(association)	0.350
SAMD1		psi-mi:“MI:0914”(association)	0.350

BioGRID (151): USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-RNA), USMG5 (Proximity Label-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS), USMG5 (Affinity Capture-MS)

ESM2 similar proteins: A1XQS2, D3Z9R8, E2R4X3, E9PQ53, O14548, O60397, O82067, P14790, P34660, P46269, P46270, P56378, P56379, Q02827, Q1RMH3, Q29259, Q2KI08, Q3SZ13, Q3T061, Q3ZBI7, Q4V8S3, Q56JY4, Q5R987, Q5RDZ8, Q5XFV8, Q5ZML6, Q61387, Q63ZZ0, Q69YU5, Q78IK2, Q7SXI1, Q8BH51, Q8BTC1, Q8C1Q6, Q8N0X7, Q96B49, Q96I36, Q96IX5, Q96KF7, Q99KD6

Diamond homologs: Q3ZBI7, Q78IK2, Q96IX5, Q9JJW3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 158 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.

GO biological processes:

GO term	Partners	Fold	FDR
negative regulation of cell cycle	6	13.5×	3e-03
mitochondrion organization	7	8.2×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	13
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
694833	NM_001206427.2(ATP5MK):c.87+1G>C	Pathogenic
981119	NM_001206427.2(ATP5MK):c.87+2dup	Likely pathogenic

SpliceAI

483 predictions. Top by Δscore:

Variant	Effect	Δscore
10:103392279:ACACA:A	acceptor_gain	1.0000
10:103392280:CACA:C	acceptor_gain	1.0000
10:103392280:CACAC:C	acceptor_gain	1.0000
10:103392282:CA:C	acceptor_gain	1.0000
10:103392282:CACT:C	acceptor_loss	1.0000
10:103392283:ACTG:A	acceptor_loss	1.0000
10:103392284:C:A	acceptor_loss	1.0000
10:103392284:C:CC	acceptor_gain	1.0000
10:103392363:ATACT:A	donor_loss	1.0000
10:103392364:TACTT:T	donor_loss	1.0000
10:103392365:ACTTA:A	donor_loss	1.0000
10:103392366:CT:C	donor_loss	1.0000
10:103392367:TTACG:T	donor_loss	1.0000
10:103392368:TACG:T	donor_loss	1.0000
10:103392369:A:AC	donor_gain	1.0000
10:103392369:AC:A	donor_loss	1.0000
10:103392370:C:CC	donor_gain	1.0000
10:103392370:CGTT:C	donor_gain	1.0000
10:103392467:C:CC	acceptor_gain	1.0000
10:103392468:T:C	acceptor_gain	1.0000
10:103392470:T:C	acceptor_gain	1.0000
10:103392281:ACA:A	acceptor_gain	0.9900
10:103392282:CAC:C	acceptor_gain	0.9900
10:103392362:AATAC:A	donor_loss	0.9900
10:103392369:ACGTT:A	donor_gain	0.9900
10:103392370:CG:C	donor_gain	0.9900
10:103392370:CGT:C	donor_gain	0.9900
10:103392370:CGTTC:C	donor_gain	0.9900
10:103392463:CAAT:C	acceptor_gain	0.9900
10:103392468:T:TC	acceptor_gain	0.9900

AlphaMissense

371 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:103392273:G:T	A33D	0.999
10:103392255:G:T	A39E	0.998
10:103392260:G:C	S37R	0.998
10:103392260:G:T	S37R	0.998
10:103392262:T:G	S37R	0.998
10:103392381:C:A	G26V	0.997
10:103392381:C:T	G26D	0.997
10:103392382:C:A	G26C	0.997
10:103392382:C:G	G26R	0.997
10:103392246:A:T	V42D	0.995
10:103392377:T:A	R27S	0.995
10:103392377:T:G	R27S	0.995
10:103392378:C:G	R27T	0.995
10:103392258:A:T	I38N	0.994
10:103392264:C:T	G36E	0.994
10:103392378:C:A	R27I	0.994
10:103392274:C:G	A33P	0.992
10:103392402:A:G	F19S	0.992
10:103392276:A:G	L32P	0.991
10:103392398:G:C	N20K	0.990
10:103392398:G:T	N20K	0.990
10:103392390:G:A	T23I	0.989
10:103392279:A:T	V31E	0.988
10:103392283:A:G	C30R	0.988
10:103392382:C:T	G26S	0.988
10:103392371:G:C	N29K	0.987
10:103392371:G:T	N29K	0.987
10:103392265:C:G	G36R	0.986
10:103392265:C:T	G36R	0.986
10:103392270:G:C	T34R	0.986

dbSNP variants (sampled 300 via entrez): RS1000296052 (10:103395727 T>C), RS1001056807 (10:103396992 A>G), RS1001124857 (10:103390492 A>G), RS1001297268 (10:103396721 C>T), RS1001468382 (10:103398212 G>A), RS1002401160 (10:103397091 C>T), RS1002476025 (10:103396844 C>CG), RS1003134024 (10:103393591 A>T), RS1003860184 (10:103391345 G>A), RS1004077385 (10:103397697 G>C), RS1004091058 (10:103391144 A>C,G), RS1004533835 (10:103397950 C>G,T), RS1005104953 (10:103392934 A>G), RS1005262405 (10:103391272 A>C), RS1005727771 (10:103391054 GATAA>G)

Disease associations

OMIM: gene MIM:615204 | disease phenotypes: MIM:618683

GenCC curated gene-disease

Disease	Classification	Inheritance
mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
mitochondrial disease	Moderate	AR
Leigh syndrome	Moderate	AR

Mondo (1): mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6 (MONDO:0032869)

Orphanet (0):

HPO phenotypes

46 total (30 of 46 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000089	Renal hypoplasia
HP:0000135	Hypogonadism
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000486	Strabismus
HP:0000508	Ptosis
HP:0000510	Rod-cone dystrophy
HP:0000518	Cataract
HP:0000602	Ophthalmoplegia
HP:0000618	Blindness
HP:0000639	Nystagmus
HP:0000648	Optic atrophy
HP:0000821	Hypothyroidism
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001252	Hypotonia
HP:0001254	Lethargy
HP:0001258	Spastic paraplegia
HP:0001260	Dysarthria
HP:0001270	Motor delay
HP:0001272	Cerebellar atrophy
HP:0001298	Encephalopathy
HP:0001324	Muscle weakness
HP:0001332	Dystonia
HP:0001347	Hyperreflexia
HP:0001639	Hypertrophic cardiomyopathy
HP:0001644	Dilated cardiomyopathy
HP:0001987	Hyperammonemia
HP:0002067	Bradykinesia

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002149_2	Schizophrenia	4.000000e-13
GCST002539_4	Schizophrenia	6.000000e-19
GCST003252_1	Systemic lupus erythematosus	1.000000e-08
GCST003802_3	Response to citalopram or escitalopram in depression	4.000000e-07
GCST004521_172	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST006950_71	Feeling worry	2.000000e-13
GCST008361_2	Response to cognitive-behavioural therapy in major depressive disorder	2.000000e-06

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009589	worry measurement
EFO:0007820	cognitive behavioural therapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066304 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs7911488	ATP5MK, MIR1307		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 3 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.09	Kd	81.18	nM	CHEMBL5653589
7.09	ED50	81.18	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 4 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2149741: Binding affinity to human USMG5 incubated for 45 mins by Kinobead based pull down assay	kd	0.0812	uM

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
bisphenol A	affects expression, increases expression	2
Doxorubicin	affects expression, increases expression	2
Smoke	increases abundance, decreases expression	2
dicrotophos	decreases expression	1
arsenite	affects binding, increases reaction	1
azoxystrobin	increases expression	1
CGP 52608	affects binding, increases reaction	1
pyrimidifen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cadmium	increases abundance, increases expression	1
Cisplatin	decreases expression	1
Copper	affects binding, decreases expression	1
Disulfiram	affects binding, decreases expression	1
Estradiol	decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Phenobarbital	affects expression	1
Dronabinol	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Lactic Acid	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5652783	Binding	Binding affinity to human USMG5 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

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_TW42	HAP1 USMG5 (-) 1	Cancer cell line	Male
CVCL_TW43	HAP1 USMG5 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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