PANK4

Summary

PANK4 (pantothenate kinase 4 (inactive), HGNC:19366) is a protein-coding gene on chromosome 1p36.32, encoding 4’-phosphopantetheine phosphatase (Q9NVE7). Phosphatase which shows a preference for 4’-phosphopantetheine and its oxidatively damaged forms (sulfonate or S-sulfonate), providing strong indirect evidence that the phosphatase activity pre-empts damage in the coenzyme A (CoA) pathway.

This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues.

Source: NCBI Gene 55229 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cataract 49 (Moderate, GenCC) — +2 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 124 total — 1 pathogenic
• Phenotypes (HPO): 6
• MANE Select transcript: NM_018216

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19366
Approved symbol	PANK4
Name	pantothenate kinase 4 (inactive)
Location	1p36.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10782
Ensembl gene	ENSG00000157881
Ensembl biotype	protein_coding
OMIM	606162
Entrez	55229

Gene structure

Transcript identifiers

Ensembl transcripts: 23 — 13 protein_coding, 5 nonsense_mediated_decay, 4 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000378466, ENST00000435556, ENST00000468002, ENST00000471361, ENST00000486396, ENST00000487804, ENST00000491212, ENST00000502512, ENST00000502770, ENST00000505228, ENST00000514922, ENST00000515423, ENST00000869531, ENST00000869532, ENST00000917346, ENST00000917347, ENST00000917348, ENST00000963403, ENST00000963404, ENST00000963405, ENST00000963406, ENST00000963407, ENST00000963408

RefSeq mRNA: 1 — MANE Select: NM_018216 NM_018216

CCDS: CCDS42

Canonical transcript exons

ENST00000378466 — 19 exons

Exon	Start	End
ENSE00001035659	2510678	2510782
ENSE00001035664	2518516	2518597
ENSE00001035666	2518164	2518264
ENSE00001035670	2515562	2515717
ENSE00001035671	2514002	2514089
ENSE00001035673	2514354	2514466
ENSE00001035674	2519143	2519324
ENSE00001035684	2512888	2513039
ENSE00001636510	2508537	2509060
ENSE00002066428	2526464	2526596
ENSE00003510608	2511628	2511683
ENSE00003515035	2520723	2520906
ENSE00003532728	2520322	2520414
ENSE00003569437	2521718	2521800
ENSE00003585117	2510057	2510157
ENSE00003614294	2511338	2511387
ENSE00003618349	2519801	2519954
ENSE00003666246	2509862	2509930
ENSE00003685963	2521101	2521315

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 92.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7780 / max 127.1209, expressed in 1788 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
9903	13.7780	1788

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	92.72	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.34	gold quality
blood	UBERON:0000178	91.11	gold quality
granulocyte	CL:0000094	90.94	gold quality
gastrocnemius	UBERON:0001388	90.90	gold quality
skeletal muscle tissue	UBERON:0001134	90.70	gold quality
heart left ventricle	UBERON:0002084	90.63	gold quality
muscle of leg	UBERON:0001383	90.55	gold quality
cerebellar hemisphere	UBERON:0002245	90.55	gold quality
cerebellar cortex	UBERON:0002129	90.49	gold quality
cerebellum	UBERON:0002037	90.47	gold quality
right atrium auricular region	UBERON:0006631	90.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.85	gold quality
pituitary gland	UBERON:0000007	89.64	gold quality
heart	UBERON:0000948	89.37	gold quality
right frontal lobe	UBERON:0002810	89.12	gold quality
adenohypophysis	UBERON:0002196	88.79	gold quality
spleen	UBERON:0002106	88.77	gold quality
metanephros cortex	UBERON:0010533	88.73	gold quality
mucosa of transverse colon	UBERON:0004991	88.51	gold quality
lower esophagus mucosa	UBERON:0035834	88.51	gold quality
muscle tissue	UBERON:0002385	88.39	gold quality
right lobe of thyroid gland	UBERON:0001119	88.33	gold quality
lower esophagus	UBERON:0013473	88.30	gold quality
lower esophagus muscularis layer	UBERON:0035833	88.30	gold quality
transverse colon	UBERON:0001157	87.95	gold quality
right adrenal gland	UBERON:0001233	87.93	gold quality
muscle layer of sigmoid colon	UBERON:0035805	87.75	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.73	gold quality
left lobe of thyroid gland	UBERON:0001120	87.68	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	213.02
E-ENAD-17	no	79.24
E-ANND-3	no	1.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting PANK4, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-6840-3P	98.68	65.95	1923
HSA-MIR-374B-3P	98.63	68.24	1360
HSA-MIR-146B-3P	97.83	65.29	782
HSA-MIR-376A-5P	97.70	65.61	863
HSA-MIR-6747-5P	96.17	64.99	743
HSA-MIR-624-5P	96.00	68.88	728

Literature-anchored findings (GeneRIF, showing 4)

• PanK4 interacts with Pkm2 and thereby may modulate the glucose metabolism through regulating the activity of Pkm2. (PMID:16132722)
• the association of a new entity of an autosomal dominant cataract with mutations in PANK4, which influences cell proliferation, apoptosis of lens epithelial cells, crystallin abnormalities, and fiber cell derangement, subsequently induces cataract. (PMID:30585370)
• The human PANK4 is a pseudo-pantothenate kinase-a catalytically deficient variant of the catalytically active PANK4 found in plants and fungi. (PMID:30927326)
• Kinome-Wide Synthetic Lethal Screen Identifies PANK4 as a Modulator of Temozolomide Resistance in Glioblastoma. (PMID:38353396)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pank4	ENSDARG00000098453
mus_musculus	Pank4	ENSMUSG00000029056
rattus_norvegicus	Pank4	ENSRNOG00000014044
drosophila_melanogaster	CG5828	FBGN0031682
caenorhabditis_elegans	pnk-1	WBGENE00004068

Paralogs (3): PANK3 (ENSG00000120137), PANK2 (ENSG00000125779), PANK1 (ENSG00000152782)

Protein

Protein identifiers

4’-phosphopantetheine phosphatase — Q9NVE7 (reviewed: Q9NVE7)

Alternative names: Inactive pantothenic acid kinase 4

All UniProt accessions (7): D6RJF3, E9PHT6, Q9NVE7, H0Y9E4, H0YA02, H0YA26, H0YA31

UniProt curated annotations — full annotation on UniProt →

Function. Phosphatase which shows a preference for 4’-phosphopantetheine and its oxidatively damaged forms (sulfonate or S-sulfonate), providing strong indirect evidence that the phosphatase activity pre-empts damage in the coenzyme A (CoA) pathway. Hydrolyzing excess 4’-phosphopantetheine could constitute a directed overflow mechanism to prevent its oxidation to the S-sulfonate, sulfonate, or other forms. Hydrolyzing 4’-phosphopantetheine sulfonate or S-sulfonate would forestall their conversion to inactive forms of CoA and acyl carrier protein. May play a role in the physiological regulation of CoA intracellular levels.

Subunit / interactions. Homodimer. Interacts with PKM.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed with high expression in the muscle. Expressed in the retina and lens epithelium, mainly in ganglion cell layer, outer plexiform layer and retinal pigment layer (at protein level).

Disease relevance. Cataract 49 (CTRCT49) [MIM:619593] A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT49 is an autosomal dominant form characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood. The disease may be caused by variants affecting the gene represented in this entry.

Activity regulation. Activity is strongly promoted by Co(2+), Ni(2+), Mg(2+) and Mn(2+). Activity is inhibited by EDTA.

Cofactor. Phosphatase activity is strongly promoted by several divalent cation ions but it is suggested s that Mn(2+) and possibly Ni(2+) represent biologically relevant metal ion cofactors for damage-control phosphatases.

Domain organisation. Subfamily II proteins have an EGMGR motif about 50 residues from the C-terminus. This motif lies near the metal-binding residues in the putative substrate-binding cleft 2. Subfamily II proteins occur only in eukaryotes, in two forms: as a stand-alone unit in plants, and as a C-terminal domain of pantothenate kinases in plants, animals, and chytrid fungi.

Similarity. In the N-terminal section; belongs to the type II pantothenate kinase family. In the C-terminal section; belongs to the damage-control phosphatase family. Phosphopantetheine phosphatase II subfamily.

RefSeq proteins (1): NP_060686* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002791	ARMT1-like_metal-bd	Domain
IPR004567	Type_II_PanK	Family
IPR015844	PanK_long	Family
IPR035073	At2g17340_3_helix_bundle	Homologous_superfamily
IPR036075	ARMT-1-like_metal-bd_sf	Homologous_superfamily
IPR043129	ATPase_NBD	Homologous_superfamily

Pfam: PF01937, PF03630

Catalyzed reactions (Rhea), 3 shown:

• (R)-4’-phosphopantetheine + H2O = (R)-pantetheine + phosphate (RHEA:68328)
• (R)-4’-phosphopantetheine sulfonate + H2O = (R)-pantetheine sulfonate + phosphate (RHEA:68336)
• (R)-4’-phospho-S-sulfopantetheine + H2O = (R)-S-sulfopantetheine + phosphate (RHEA:68340)

UniProt features (20 total): modified residue 5, binding site 5, sequence variant 3, mutagenesis site 2, region of interest 2, initiator methionine 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVE7-F1	87.21	0.62

Functional residue map

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

Ligand- & substrate-binding residues (5): 196; 199; 623; 624; 659

Post-translational modifications (5): 2, 320, 393, 404, 406

Mutagenesis-validated functional residues (2):

Position	Phenotype
147	does not induce acetyl-coa production. restores a moderate increase in acetyl-coa production; when associated with r-211
211	does not induce acetyl-coa production. restores a moderate increase in acetyl-coa production; when associated with e-147

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-199220	Vitamin B5 (pantothenate) metabolism

MSigDB gene sets: 123 (showing top): GOBP_COENZYME_A_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, POU3F2_02, GOBP_COENZYME_A_BIOSYNTHETIC_PROCESS, HAN_SATB1_TARGETS_DN, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS

GO Biological Process (2): coenzyme A biosynthetic process (GO:0015937), pantothenate metabolic process (GO:0015939)

GO Molecular Function (6): ATP binding (GO:0005524), phosphatase activity (GO:0016791), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), pantothenate kinase activity (GO:0004594), hydrolase activity (GO:0016787)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of water-soluble vitamins and cofactors	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
coenzyme A metabolic process	1
sulfur compound biosynthetic process	1
purine-containing compound biosynthetic process	1
nucleoside phosphate biosynthetic process	1
modified amino acid metabolic process	1
monocarboxylic acid metabolic process	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
phosphoric ester hydrolase activity	1
cation binding	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
kinase activity	1
phosphotransferase activity, alcohol group as acceptor	1
catalytic activity	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PANK4	PPCS	Q9HAB8	639
PANK4	PPCDC	Q96CD2	593
PANK4	COASY	Q13057	578
PANK4	DCPH1	Q9H993	558
PANK4	HES5	Q5TA89	557
PANK4	TPK1	Q9H3S4	528
PANK4	CFAP99	D6REC4	528
PANK4	FBL	P22087	497
PANK4	WDR44	Q5JSH3	480
PANK4	TNIK	Q9UKE5	476
PANK4	ANAPC16	Q96DE5	450
PANK4	RRP8	O43159	437
PANK4	UROD	P06132	397
PANK4	DCAKD	Q8WVC6	389
PANK4	SLC5A6	Q9Y289	380

IntAct

50 interactions, top by confidence:

A	B	Type	Score
DNAJB8	DNAJB6	psi-mi:“MI:0914”(association)	0.530
PANK4	H1-1	psi-mi:“MI:0915”(physical association)	0.400
FOXA3	DDX39A	psi-mi:“MI:0914”(association)	0.350
NS1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
vIRF-3	CTR9	psi-mi:“MI:0914”(association)	0.350
LYPD4	DPYSL4	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
RAB1B	TOMM40	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
PRDX2	FAM171A2	psi-mi:“MI:0914”(association)	0.350
FPR1	GPR89A	psi-mi:“MI:0914”(association)	0.350
LYPD4	PIK3C2A	psi-mi:“MI:0914”(association)	0.350
ZHX1-C8orf76	FANCG	psi-mi:“MI:0914”(association)	0.350
AGBL4	HSPA8	psi-mi:“MI:0914”(association)	0.350
KLRB1	ESYT2	psi-mi:“MI:0914”(association)	0.350
NPAS1	CIBAR1	psi-mi:“MI:0914”(association)	0.350
INF2	PIPSL	psi-mi:“MI:0914”(association)	0.350
LY86	TMEM131L	psi-mi:“MI:0914”(association)	0.350
GZMH	DENND11	psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
AQP3	UBXN8	psi-mi:“MI:0914”(association)	0.350
PRDX2	TXNDC9	psi-mi:“MI:0914”(association)	0.350
CLEC2B	ADAM10	psi-mi:“MI:0914”(association)	0.350
CLDN10	RAB29	psi-mi:“MI:0914”(association)	0.350
MAP2K2	FANCA	psi-mi:“MI:0914”(association)	0.350
AIFM1	HSPA12A	psi-mi:“MI:0914”(association)	0.350

BioGRID (97): PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-RNA), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS), PANK4 (Proximity Label-MS), PANK4 (Proximity Label-MS), PANK4 (Proximity Label-MS), PANK4 (Affinity Capture-MS), PANK4 (Affinity Capture-MS)

ESM2 similar proteins: A0A286ZK88, A1L1L6, A7MB28, A8WGF4, B8BJ39, D0G6S1, O00399, O54956, P11029, P11497, Q13085, Q148G7, Q28007, Q28943, Q28DR7, Q2HJF8, Q2RAK2, Q4R4U1, Q502J7, Q5FVD6, Q5R559, Q5R5F8, Q5R7D8, Q5R8Q7, Q5SWU9, Q5ZIT8, Q5ZM73, Q6AYR2, Q6NVC5, Q6NWV3, Q6P1X5, Q6PC62, Q7TPD1, Q7TSL3, Q86XK2, Q8BG51, Q8BH44, Q8C176, Q8CHR6, Q8IWZ6

Diamond homologs: O74962, O80765, Q04430, Q08DA5, Q0J035, Q4R4U1, Q5R5F8, Q69TF4, Q7M753, Q80YV4, Q8K4K6, Q8L5Y9, Q8R2W9, Q8TE04, Q923S8, Q9BZ23, Q9H999, Q9NVE7, Q8EN08, B7H5Z8, B7IKP3, Q736G1, Q81C81, Q949P3, Q2FEZ8, Q2FWC7, Q2YUM3, Q5HE70, Q5HM92, Q6G7I0, Q6GEU5, Q7A4D4, Q8CRM3, Q8NVG0, Q99SC8, B7JSQ5, Q49Z76, Q4L811, Q63A51, Q6HHK0

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 78 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
PKR-mediated signaling	5	14.4×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	97
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1301909	NM_018216.4(PANK4):c.607-53G>A	Pathogenic

SpliceAI

2896 predictions. Top by Δscore:

Variant	Effect	Δscore
1:2509056:GGCGG:G	acceptor_gain	1.0000
1:2509058:CGG:C	acceptor_gain	1.0000
1:2509060:GCT:G	acceptor_loss	1.0000
1:2509061:C:A	acceptor_loss	1.0000
1:2509061:C:CC	acceptor_gain	1.0000
1:2509062:T:C	acceptor_gain	1.0000
1:2509063:T:C	acceptor_gain	1.0000
1:2509063:T:TC	acceptor_gain	1.0000
1:2509926:CAGAG:C	acceptor_gain	1.0000
1:2509927:AGAG:A	acceptor_gain	1.0000
1:2509928:GAG:G	acceptor_gain	1.0000
1:2509931:C:CC	acceptor_gain	1.0000
1:2509932:T:C	acceptor_loss	1.0000
1:2510050:CA:C	donor_gain	1.0000
1:2510053:TCACT:T	donor_loss	1.0000
1:2510054:CACTG:C	donor_loss	1.0000
1:2510055:A:AC	donor_gain	1.0000
1:2510055:ACTG:A	donor_gain	1.0000
1:2510056:C:CT	donor_gain	1.0000
1:2510056:CTG:C	donor_gain	1.0000
1:2510056:CTGC:C	donor_gain	1.0000
1:2510056:CTGCA:C	donor_gain	1.0000
1:2510074:G:A	donor_gain	1.0000
1:2510154:TGAC:T	acceptor_gain	1.0000
1:2510155:GAC:G	acceptor_gain	1.0000
1:2510156:AC:A	acceptor_gain	1.0000
1:2510157:CC:C	acceptor_gain	1.0000
1:2510157:CCTGC:C	acceptor_loss	1.0000
1:2510158:C:CC	acceptor_gain	1.0000
1:2510158:CTG:C	acceptor_loss	1.0000

AlphaMissense

5068 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:2508922:C:A	K749N	0.999
1:2508922:C:G	K749N	0.999
1:2508923:T:A	K749M	0.999
1:2508970:G:C	N733K	0.999
1:2508970:G:T	N733K	0.999
1:2510120:T:A	D659V	0.999
1:2510122:G:C	N658K	0.999
1:2510122:G:T	N658K	0.999
1:2510744:G:C	N624K	0.999
1:2510744:G:T	N624K	0.999
1:2510748:T:A	D623V	0.999
1:2512911:G:C	D568E	0.999
1:2512911:G:T	D568E	0.999
1:2512912:T:A	D568V	0.999
1:2512912:T:G	D568A	0.999
1:2512914:G:C	F567L	0.999
1:2512914:G:T	F567L	0.999
1:2512916:A:G	F567L	0.999
1:2513034:C:A	K527N	0.999
1:2513034:C:G	K527N	0.999
1:2514036:A:G	L514P	0.999
1:2514060:A:G	L506P	0.999
1:2514081:C:T	G499E	0.999
1:2514082:C:A	G499W	0.999
1:2515594:A:G	W448R	0.999
1:2515594:A:T	W448R	0.999
1:2518247:A:G	W379R	0.999
1:2518247:A:T	W379R	0.999
1:2518566:T:A	E356V	0.999
1:2518571:C:A	R354S	0.999

dbSNP variants (sampled 300 via entrez): RS1000059023 (1:2517627 A>G), RS1000135094 (1:2517927 G>A,C), RS1000462164 (1:2526013 G>T), RS1000515170 (1:2517825 A>G), RS1000885516 (1:2513877 G>A), RS1000890009 (1:2510459 C>A,T), RS1001061344 (1:2514655 T>A,G), RS1001201030 (1:2524826 C>T), RS1001300910 (1:2525898 T>C), RS1001368740 (1:2508534 G>A,C), RS1001446780 (1:2509663 C>G), RS1001495125 (1:2509486 A>AT), RS1001521205 (1:2525099 C>T), RS1001543455 (1:2517238 C>T), RS1001779543 (1:2516925 A>G)

Disease associations

OMIM: gene MIM:606162 | disease phenotypes: MIM:619593

GenCC curated gene-disease

Disease	Classification	Inheritance
cataract 49	Moderate	Autosomal dominant
early-onset posterior polar cataract	Supportive	Autosomal dominant
cataract	Limited	Autosomal dominant

Mondo (3): cataract 49 (MONDO:0030465), early-onset posterior polar cataract (MONDO:0020378), cataract (MONDO:0005129)

Orphanet (0):

HPO phenotypes

6 total (6 of 6 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000639	Nystagmus
HP:0003621	Juvenile onset
HP:0007663	Reduced visual acuity
HP:0010924	Posterior cortical cataract
HP:0011463	Childhood onset

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001762_101	Obesity-related traits	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004626	IGFBP-3 measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002386	Cataract	C11.510.245

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	5
sodium arsenite	decreases expression, increases abundance, increases expression	3
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression, decreases expression	2
aristolochic acid I	increases expression	1
2,4,6-tribromophenol	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenate	decreases expression	1
decabromobiphenyl ether	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1
tetrabromobisphenol A	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
LDN 193189	affects cotreatment, increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	increases phosphorylation	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects expression	1
Metribolone	increases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3DB	Abcam HEK293T PANK4 KO	Transformed cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00273221	PHASE4	UNKNOWN	Combined Phacotube vs Phacotrabeculectomy:A Randomized Controlled Trial
NCT00312299	PHASE4	COMPLETED	Posterior Capsule Opacification Study
NCT00345046	PHASE4	COMPLETED	A Comparison of Three Different Formulations of Prednisolone Acetate 1%
NCT00347243	PHASE4	COMPLETED	Wavefront Analisys and Contrast Sensitivity of Spherical and Aspherical Intraocular Lenses
NCT00347503	PHASE4	COMPLETED	Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients
NCT00348244	PHASE4	COMPLETED	Ketorolac vs. Steroid in the Prevention of CME
NCT00348270	PHASE4	COMPLETED	Comparison of the Quality of Vision Provided by AMO Tecnis Z9000 and Alcon Laboratories MA60 Acrysof Posterior Chamber Intraocular Lenses
NCT00348582	PHASE4	COMPLETED	Acular LS vs. Nevanac in Post op Inflammation Following Cataract Surgery
NCT00348621	PHASE4	COMPLETED	A Study of Interventions to Reduce Disability From Visual Loss in Nursing Home Residents
NCT00349583	PHASE4	COMPLETED	Efficacy of Topical Cyclosporine Versus Tears for Improving Visual Outcomes Following Multifocal IOL Implantation
NCT00355446	PHASE4	COMPLETED	Bioavailability of Bimatoprost Ophthalmic Solution in Human Aqueous.
NCT00386438	PHASE4	COMPLETED	Efficacy of Honan Balloon in Intraocular Pressure Reduction Before Phacoemulsification
NCT00392275	PHASE4	COMPLETED	Penetrance of Third Generation Fluoroquinolones in Eyes With Functioning Filtering Blebs
NCT00428363	PHASE4	COMPLETED	Effect of Optic Edge Design in a Silicone Intraocular Lens on Posterior Capsule Opacification
NCT00449267	PHASE4	COMPLETED	Aurolab Hydrophobic Foldable Intraocular Lens Study
NCT00459303	PHASE4	COMPLETED	Comparison of Functional Vision Provided by AMO Tecnis Z9000 and Alcon SA60AT Acrysof
NCT00469690	PHASE4	COMPLETED	Aqueous Concentrations and PGE2 Inhibition of Ketorolac 0.4% vs. Bromfenac 0.09% in Cataract Patients: Trough Drug Effects
NCT00576485	PHASE4	COMPLETED	Spherical Aberration and Contrast Sensitivity in IOLs
NCT00612729	PHASE4	COMPLETED	Light Filters in Intraocular Lenses (IOLs) and Its Influence on Colour and Contrast Vision.
NCT00612781	PHASE4	COMPLETED	Yellow Versus White Study
NCT00630019	PHASE4	COMPLETED	Ocular Tissue Levels of 1.5% Levofloxacin Ophthalmic Solution Compared to an Active Comparator
NCT00673803	PHASE4	COMPLETED	Influence of Two Different Preloaded Intraocular Lens (IOLs) on Posterior Capsule Opacification
NCT00684138	PHASE4	COMPLETED	ACRYSOF® ReSTOR® Aspheric +3.0 D Add Power Intraocular Lens (IOL)
NCT00698724	PHASE4	COMPLETED	Comparing Optical Coherence Tomography (OCT) and Visual Acuity Outcomes in Subjects Undergoing Cataract Surgery, Who Receive Xibrom Ophthalmic Solution and Standard Presurgical Care vs. Xibrom Ophthalmic Solution Plus Prednisolone Acetate 1% and Standard Presurgical Care
NCT00710905	PHASE4	TERMINATED	Visual Function With Contralateral AcrySof® ReSTOR® Aspheric SN6AD1 and SN6AD3
NCT00710931	PHASE4	COMPLETED	Visual Function With Bilateral AcrySof® ReSTOR® Aspheric SN6AD1
NCT00711347	PHASE4	COMPLETED	Intraoperative Floppy Iris Syndrome
NCT00712244	PHASE4	COMPLETED	DisCoVisc Versus DuoVisc, Healon5 and AmVisc Plus
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00719732	PHASE4	COMPLETED	Visual Function After Implantation of Bilateral AcrySof ReSTOR Aspheric +3
NCT00721253	PHASE4	COMPLETED	Visual Outcomes of Subjects Bilaterally Implanted With ReSTOR Aspheric +4 vs. Tecnis or Acri.LISA
NCT00731640	PHASE4	COMPLETED	Contralateral ReSTOR / Monofocal or Phakic Eye
NCT00732030	PHASE4	COMPLETED	Low Cylinder Toric
NCT00758199	PHASE4	COMPLETED	Determination of Optimum Duration of Treatment With Bromfenac (Xibrom) Eyedrops Following Cataract Surgery
NCT00760058	PHASE4	WITHDRAWN	Visual Outcome and Visual Quality After Bilateral Implantation of the AcrySof® IQ IOL Compared to MI60® and Tecnis® IOL
NCT00760487	PHASE4	COMPLETED	Visual Function After Implantation of Bilateral AcrySof® Toric Natural Intraocular Lens
NCT00761488	PHASE4	WITHDRAWN	Recommendations for Monitoring Clinical Experience Following Implantation of the AcrySof® Toric
NCT00763360	PHASE4	COMPLETED	To Compare the Ability of DiscoVisc® OVD to Protect the Corneal Endothelium and Maintain Anterior Chamber Space With Healon® and Amvisc® PLUS During Cataract Surgery.
NCT00786370	PHASE4	COMPLETED	Dexmedetomidine vs. Propofol for Cataract Surgery
NCT00786565	PHASE4	COMPLETED	Clinical Evaluation of a New Aspheric Intraocular Lens.