ANKRD28

Summary

ANKRD28 (ankyrin repeat domain 28, HGNC:29024) is a protein-coding gene on chromosome 3p25.1, encoding Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A (O15084). Regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates.

Predicted to be located in cytosol and nucleoplasm.

Source: NCBI Gene 23243 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 207 total — 9 pathogenic, 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001349278

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29024
Approved symbol	ANKRD28
Name	ankyrin repeat domain 28
Location	3p25.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0379, PITK, PP6-ARS-A, PPP1R65, FAP79, CFAP79
Ensembl gene	ENSG00000206560
Ensembl biotype	protein_coding
OMIM	611122
Entrez	23243

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 6 protein_coding_CDS_not_defined, 4 retained_intron, 3 protein_coding, 3 nonsense_mediated_decay

ENST00000399451, ENST00000412318, ENST00000439830, ENST00000451422, ENST00000460278, ENST00000461696, ENST00000462657, ENST00000463533, ENST00000476472, ENST00000479043, ENST00000492895, ENST00000497037, ENST00000498524, ENST00000498713, ENST00000624145, ENST00000683139

RefSeq mRNA: 12 — MANE Select: NM_001349278 NM_001195098, NM_001195099, NM_001349277, NM_001349278, NM_001349279, NM_001349280, NM_001349281, NM_001349282, NM_001349283, NM_001349284, NM_001349285, NM_015199

CCDS: CCDS46769, CCDS74908, CCDS93222

Canonical transcript exons

ENST00000683139 — 28 exons

Exon	Start	End
ENSE00001794354	15667236	15670556
ENSE00003460160	15707924	15708064
ENSE00003476399	15737033	15737233
ENSE00003476537	15713527	15713641
ENSE00003482901	15676974	15677056
ENSE00003502578	15679476	15679563
ENSE00003519615	15709668	15709736
ENSE00003525830	15711211	15711274
ENSE00003534473	15685226	15685445
ENSE00003541857	15677480	15677562
ENSE00003557242	15686002	15686119
ENSE00003569632	15694739	15694813
ENSE00003573582	15678209	15678354
ENSE00003592593	15735410	15735497
ENSE00003601765	15690019	15690220
ENSE00003610179	15675898	15675989
ENSE00003611425	15751750	15751820
ENSE00003620423	15679301	15679384
ENSE00003627343	15795223	15795306
ENSE00003630866	15714578	15714656
ENSE00003636202	15696134	15696245
ENSE00003650840	15695188	15695214
ENSE00003654439	15712140	15712222
ENSE00003661943	15724382	15724524
ENSE00003664963	15720915	15721127
ENSE00003669458	15686222	15686309
ENSE00003676757	15766234	15766312
ENSE00003916531	15796405	15797979

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 98.83.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.2715 / max 1194.5109, expressed in 1779 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
41308	13.3851	1417
41307	4.3141	1058
41319	2.7597	1103
41317	1.1310	681
41312	0.7513	171
41314	0.3768	160
41309	0.2983	129
41310	0.2950	101
41313	0.2783	143
41311	0.2035	56

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus epididymis	UBERON:0004359	98.83	gold quality
calcaneal tendon	UBERON:0003701	98.56	gold quality
stromal cell of endometrium	CL:0002255	97.89	gold quality
cartilage tissue	UBERON:0002418	96.61	gold quality
caput epididymis	UBERON:0004358	96.31	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.19	gold quality
synovial joint	UBERON:0002217	95.15	gold quality
cerebellar cortex	UBERON:0002129	95.08	gold quality
cerebellar hemisphere	UBERON:0002245	95.08	gold quality
mucosa of paranasal sinus	UBERON:0005030	94.78	gold quality
biceps brachii	UBERON:0001507	94.61	gold quality
cauda epididymis	UBERON:0004360	94.58	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	94.43	gold quality
cerebellum	UBERON:0002037	94.32	gold quality
corpus callosum	UBERON:0002336	94.16	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	94.05	gold quality
skin of hip	UBERON:0001554	94.03	gold quality
gastrocnemius	UBERON:0001388	93.87	gold quality
tendon	UBERON:0000043	93.69	gold quality
tibia	UBERON:0000979	93.69	gold quality
muscle of leg	UBERON:0001383	93.67	gold quality
bronchial epithelial cell	CL:0002328	93.27	gold quality
cerebellar vermis	UBERON:0004720	93.21	gold quality
muscle organ	UBERON:0001630	92.71	gold quality
parietal pleura	UBERON:0002400	92.63	gold quality
deltoid	UBERON:0001476	92.59	gold quality
colonic epithelium	UBERON:0000397	92.52	gold quality
penis	UBERON:0000989	92.23	gold quality
palpebral conjunctiva	UBERON:0001812	92.14	gold quality
trabecular bone tissue	UBERON:0002483	92.07	gold quality

Single-cell (SCXA)

Detected in 19 experiment(s), a significant marker in 18.

Experiment	Marker?	Max mean expression
E-CURD-6	yes	4024.33
E-CURD-46	yes	2289.12
E-HCAD-29	yes	2050.51
E-CURD-89	yes	882.35
E-MTAB-9467	yes	533.86
E-HCAD-4	yes	518.35
E-MTAB-6701	yes	458.46
E-CURD-88	yes	88.75
E-MTAB-8142	yes	47.81
E-MTAB-8410	yes	43.55
E-HCAD-6	yes	39.83
E-HCAD-1	yes	31.55
E-HCAD-11	yes	26.57
E-CURD-122	yes	9.50
E-GEOD-135922	yes	6.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

207 targeting ANKRD28, 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-340-5P	100.00	72.50	4437
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-33A-5P	99.99	68.62	1055

Literature-anchored findings (GeneRIF, showing 7)

• These findings provide a putative mechanism by which transcriptional activity of hnRNP K can be discretely controlled through the regulation of PP1 activity. (PMID:16564677)
• CaMKII and GSK3 mediate regulation of PITK. (PMID:17023142)
• ANKRD28, a novel binding partner of DOCK180, promotes cell migration by regulating focal adhesion formation. (PMID:19118547)
• hnRNP K and hnRNP L may serve as A1CF-like cofactors in AID-mediated class switch recombination and somatic hypermutation (PMID:25902538)
• findings suggest that BRCA1 is a novel modulator of PP6 signalling via its interaction with ANKRD28. (PMID:27026398)
• HPV16 infection and over-expression of hnRNP K protein were associated with the increased risk of cervical intraepithelial neoplasia. There might be interaction between hnRNP K protein overexpression and HPV16 infection existed on the progress of CIN/ [ cervical intraepithelial neoplasia II/III]. (PMID:30572391)
• circANKRD28 inhibits cisplatin resistance in non-small-cell lung cancer through the miR-221-3p/SOCS3 axis. (PMID:36740786)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankrd28b	ENSDARG00000009023
danio_rerio		ENSDARG00000086326
mus_musculus	Ankrd28	ENSMUSG00000014496
rattus_norvegicus	Ankrd28	ENSRNOG00000019697

Paralogs (3): ANKRD44 (ENSG00000065413), ANKRD52 (ENSG00000139645), ANKRD55 (ENSG00000164512)

Protein

Protein identifiers

Serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A — O15084 (reviewed: O15084)

Alternative names: Ankyrin repeat domain-containing protein 28, Phosphatase interactor targeting protein hnRNP K

All UniProt accessions (3): B4DIW9, F8WDU2, O15084

UniProt curated annotations — full annotation on UniProt →

Function. Regulatory subunit of protein phosphatase 6 (PP6) that may be involved in the recognition of phosphoprotein substrates. Involved in the PP6-mediated dephosphorylation of NFKBIE opposing its degradation in response to TNF. Selectively inhibits the phosphatase activity of PPP1C. Targets PPP1C to modulate HNRPK phosphorylation. Involved in the PP6-mediated dephosphorylation of MOB1 and induced focal adhesion assembly during cell migration.

Subunit / interactions. Protein phosphatase 6 (PP6) holoenzyme is proposed to be a heterotrimeric complex formed by the catalytic subunit, a SAPS domain-containing subunit (PP6R) and an ankyrin repeat-domain containing regulatory subunit (ARS). Interacts with PPP6C, PPP6R1 and PPP6R3. Interacts with PPP1C and HNRPK.

Subcellular location. Nucleus. Nucleoplasm. Cytoplasm. Cytosol. Cell projection. Lamellipodium.

Post-translational modifications. Ubiquitinated by the ECS(RAB40C) complex leading to its degradation and decreased PP6 activity.

Miscellaneous. Produced by alternative promoter usage.

Isoforms (4)

UniProt ID	Names	Canonical?
O15084-3	1	yes
O15084-2	2
O15084-1	3
O15084-4	4

RefSeq proteins (10): NP_001182027, NP_001182028, NP_001336206, NP_001336207, NP_001336208, NP_001336209, NP_001336210, NP_001336211, NP_001336212, NP_056014 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily

Pfam: PF00023, PF12796

UniProt features (36 total): repeat 27, splice variant 3, modified residue 2, sequence conflict 2, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O15084-F1	87.91	0.78

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): 1007, 1011

Mutagenesis-validated functional residues (1):

Position	Phenotype
1007–1011	marked decrease in phosphorylation. increased ppp1c-binding. no effect on hnrpk-binding.

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-171319	Telomere Extension By Telomerase
R-HSA-204005	COPII-mediated vesicle transport
R-HSA-157579	Telomere Maintenance
R-HSA-1640170	Cell Cycle
R-HSA-180786	Extension of Telomeres
R-HSA-199977	ER to Golgi Anterograde Transport
R-HSA-199991	Membrane Trafficking
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5653656	Vesicle-mediated transport
R-HSA-597592	Post-translational protein modification
R-HSA-73886	Chromosome Maintenance
R-HSA-948021	Transport to the Golgi and subsequent modification

MSigDB gene sets: 345 (showing top): AP1_01, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_FOCAL_ADHESION_ASSEMBLY, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, TGACCTY_ERR1_Q2, FOXO4_01, REACTOME_MEMBRANE_TRAFFICKING, FOXO1_01, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, AAAYRNCTG_UNKNOWN, FOXD3_01, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION

GO Biological Process (1): positive regulation of focal adhesion assembly (GO:0051894)

GO Molecular Function (2): protein phosphatase regulator activity (GO:0019888), protein binding (GO:0005515)

GO Cellular Component (7): nucleoplasm (GO:0005654), cytosol (GO:0005829), protein serine/threonine phosphatase complex (GO:0008287), lamellipodium (GO:0030027), nucleus (GO:0005634), cytoplasm (GO:0005737), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-11 pathways:

Category	Pathways
Extension of Telomeres	1
ER to Golgi Anterograde Transport	1
Chromosome Maintenance	1
Telomere Maintenance	1
Membrane Trafficking	1
Transport to the Golgi and subsequent modification	1
Vesicle-mediated transport	1
Post-translational protein modification	1
Metabolism of proteins	1
Cell Cycle	1
Asparagine N-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
positive regulation of cell-matrix adhesion	1
focal adhesion assembly	1
regulation of focal adhesion assembly	1
positive regulation of cell-substrate junction organization	1
positive regulation of cell junction assembly	1
phosphoprotein phosphatase activity	1
phosphatase regulator activity	1
protein phosphatase binding	1
binding	1
nuclear lumen	1
cytoplasm	1
phosphatase complex	1
cell leading edge	1
plasma membrane bounded cell projection	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1428 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD28	PPP6R1	Q9UPN7	853
ANKRD28	PPP6R3	Q5H9R7	751
ANKRD28	PPP6C	O00743	744
ANKRD28	DOCK1	Q14185	731
ANKRD28	PPP1CB	P37140	695
ANKRD28	PPP1CC	P36873	675
ANKRD28	PPP6R2	O75170	621
ANKRD28	HNRNPK	P61978	613
ANKRD28	MAP2K5	Q13163	604
ANKRD28	BRCA1	P38398	544
ANKRD28	CRK	P46108	498
ANKRD28	CCT7	Q99832	446
ANKRD28	PAK4	O96013	437
ANKRD28	AKT1	P31749	422
ANKRD28	CCT2	P78371	419

IntAct

223 interactions, top by confidence:

A	B	Type	Score
PPP6R1	PPP6C	psi-mi:“MI:0914”(association)	0.920
PPP6C	ANKRD28	psi-mi:“MI:0914”(association)	0.870
PPP6C	ANKRD28	psi-mi:“MI:0915”(physical association)	0.870
ANKRD28	PPP6C	psi-mi:“MI:0914”(association)	0.870
ANKRD52	PPP6C	psi-mi:“MI:0914”(association)	0.790
ANKRD44	PPP6C	psi-mi:“MI:0914”(association)	0.790
PPP6R2	ANKRD28	psi-mi:“MI:0915”(physical association)	0.760
ANKRD28	PPP6R1	psi-mi:“MI:0914”(association)	0.750
ANKRD28	PPP6R1	psi-mi:“MI:0915”(physical association)	0.750
PPP6R1	ANKRD28	psi-mi:“MI:0915”(physical association)	0.750
ANKRD28	PPP6R3	psi-mi:“MI:0915”(physical association)	0.710
PPP6R3	ANKRD28	psi-mi:“MI:0915”(physical association)	0.710
ANKRD44	ANKRD28	psi-mi:“MI:0914”(association)	0.710
FOXK2	DVL2	psi-mi:“MI:0914”(association)	0.640
USP10	ANKRD28	psi-mi:“MI:0914”(association)	0.610
ANKRD28	MGC50722	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	THAP7	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	YTHDC1	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	GADD45GIP1	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	INCA1	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	PTRH1	psi-mi:“MI:0915”(physical association)	0.560
	ANKRD28	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	EIF3D	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	KCNV2	psi-mi:“MI:0915”(physical association)	0.560
ANKRD28	PIBF1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (339): ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Affinity Capture-MS), ANKRD28 (Proximity Label-MS), ANKRD28 (Proximity Label-MS), ANKRD28 (Proximity Label-MS), ANKRD28 (Proximity Label-MS), ANKRD28 (Proximity Label-MS), ANKRD28 (Proximity Label-MS)

ESM2 similar proteins: A2AS55, B2RXR6, O15084, O75832, P0C927, Q08DV6, Q0P5B9, Q29RM5, Q2TB02, Q3SX45, Q495B1, Q499M5, Q4V890, Q502K3, Q505D1, Q53RE8, Q5F478, Q5RFS1, Q5U2S6, Q5ZLC8, Q6GPE5, Q6P6B7, Q6P9Z4, Q70X92, Q7T3P8, Q810B6, Q8BTI7, Q8C0T1, Q8C6Y6, Q8K0L0, Q8N8A2, Q8NB46, Q8NI38, Q8WXH4, Q91ZT8, Q96AX9, Q96DX5, Q96NS5, Q96Q27, Q9BSK4

Diamond homologs: A2ARS0, B2RXR6, C9JTQ0, L7XCU0, L7XDS4, O15084, O75762, O89019, P25799, Q00653, Q18297, Q2TB02, Q3EC11, Q3KP44, Q3SX00, Q4JHE0, Q4ULZ2, Q502K3, Q505D1, Q5F478, Q5R8C8, Q5U464, Q5ZLC8, Q61982, Q6JAN1, Q6RI86, Q810B6, Q86W74, Q8BLD6, Q8BTI7, Q8N8A2, Q8NB46, Q8UVC3, Q94B55, Q9R172, Q9UM47, Q9WTK5, Q9Y283, P53356, Q04749

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
GSK3A	“down-regulates activity”	ANKRD28	phosphorylation
CAMK2D	“down-regulates activity”	ANKRD28	phosphorylation
ANKRD28	“up-regulates activity”	PPP1CC	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	1
Uncertain significance	143
Likely benign	16
Benign	1

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	Pathogenic
1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	Pathogenic
2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	Pathogenic
3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	Pathogenic
441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	Pathogenic
443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	Pathogenic
562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	Pathogenic
562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	Pathogenic
57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	Pathogenic
443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	Likely pathogenic

SpliceAI

4826 predictions. Top by Δscore:

Variant	Effect	Δscore
3:15675894:TTACC:T	donor_loss	1.0000
3:15675895:TAC:T	donor_loss	1.0000
3:15675896:A:AC	donor_gain	1.0000
3:15675896:AC:A	donor_gain	1.0000
3:15675897:C:CC	donor_gain	1.0000
3:15675897:C:G	donor_loss	1.0000
3:15675897:CC:C	donor_gain	1.0000
3:15675897:CCA:C	donor_gain	1.0000
3:15675897:CCATT:C	donor_gain	1.0000
3:15675986:AGGT:A	acceptor_gain	1.0000
3:15675987:GGT:G	acceptor_gain	1.0000
3:15675988:GT:G	acceptor_gain	1.0000
3:15675989:TCTAG:T	acceptor_loss	1.0000
3:15675990:C:CA	acceptor_loss	1.0000
3:15675990:C:CC	acceptor_gain	1.0000
3:15675991:T:C	acceptor_loss	1.0000
3:15676972:A:AC	donor_gain	1.0000
3:15676973:C:CA	donor_gain	1.0000
3:15677055:CC:C	acceptor_gain	1.0000
3:15677056:CC:C	acceptor_gain	1.0000
3:15677475:CATA:C	donor_loss	1.0000
3:15677476:ATACC:A	donor_loss	1.0000
3:15677477:TACC:T	donor_loss	1.0000
3:15677478:ACC:A	donor_loss	1.0000
3:15678208:CCAA:C	donor_gain	1.0000
3:15678208:CCAAC:C	donor_loss	1.0000
3:15678211:A:C	donor_gain	1.0000
3:15678212:C:CC	donor_gain	1.0000
3:15678350:GAGTT:G	acceptor_gain	1.0000
3:15678351:AGTT:A	acceptor_gain	1.0000

AlphaMissense

7095 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:15670505:A:G	L976P	1.000
3:15670547:G:T	P962Q	1.000
3:15675939:A:G	L945P	1.000
3:15675972:G:T	A934D	1.000
3:15675975:G:T	A933D	1.000
3:15686034:C:G	D683H	1.000
3:15690087:A:G	L602P	1.000
3:15721048:A:G	L258P	1.000
3:15724500:A:G	L192P	1.000
3:15735451:T:A	D170V	1.000
3:15735452:C:A	D170Y	1.000
3:15735452:C:G	D170H	1.000
3:15735484:A:G	L159P	1.000
3:15737076:C:A	G140V	1.000
3:15737076:C:T	G140E	1.000
3:15737077:C:A	G140W	1.000
3:15737077:C:G	G140R	1.000
3:15737077:C:T	G140R	1.000
3:15737082:C:G	R138P	1.000
3:15737084:A:C	D137E	1.000
3:15737084:A:T	D137E	1.000
3:15737085:T:A	D137V	1.000
3:15737085:T:G	D137A	1.000
3:15737086:C:A	D137Y	1.000
3:15737086:C:G	D137H	1.000
3:15737151:G:T	A115D	1.000
3:15737154:G:T	A114D	1.000
3:15737166:G:C	P110R	1.000
3:15737166:G:T	P110H	1.000
3:15737174:C:A	W107C	1.000

dbSNP variants (sampled 300 via entrez): RS1000012218 (3:15683696 T>C), RS1000029822 (3:15723248 GC>G), RS1000030209 (3:15783096 C>G), RS1000055938 (3:15702435 T>C), RS1000068507 (3:15841368 T>C), RS1000075985 (3:15673221 G>A), RS1000087939 (3:15729511 T>C), RS1000092548 (3:15680677 A>G,T), RS1000098490 (3:15795010 A>C), RS1000110417 (3:15837527 A>G), RS1000118283 (3:15831465 T>A), RS1000121857 (3:15675260 G>C), RS1000133553 (3:15789743 A>G,T), RS1000146396 (3:15751054 G>A), RS1000149083 (3:15673500 G>C,T)

Disease associations

OMIM: gene MIM:611122 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST004616_139	Platelet distribution width	1.000000e-12
GCST010002_416	Refractive error	1.000000e-17
GCST010241_353	Apolipoprotein A1 levels	3.000000e-11
GCST010242_39	HDL cholesterol levels	4.000000e-15
GCST90002395_365	Mean platelet volume	4.000000e-12
GCST90002395_366	Mean platelet volume	1.000000e-34
GCST90002401_435	Platelet distribution width	2.000000e-20
GCST90002402_299	Platelet count	1.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0007984	platelet component distribution width
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004309	platelet count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4105921 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation, decreases expression, increases expression, affects expression (+1 more)	4
methylmercuric chloride	increases expression, decreases expression	3
Benzo(a)pyrene	decreases expression, decreases methylation	3
trichostatin A	increases expression	2
entinostat	decreases expression, affects cotreatment	2
Acetaminophen	decreases expression, affects response to substance	2
Valproic Acid	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
ginger extract	affects cotreatment, affects expression, increases abundance	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
Irinotecan	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Demecolcine	increases expression	1
Doxorubicin	decreases expression	1
Etoposide	affects response to substance	1
Formaldehyde	increases expression	1
Ivermectin	decreases expression	1
Melphalan	decreases expression	1
Oils, Volatile	affects cotreatment, affects expression, increases abundance	1
Phthalic Acids	increases methylation	1
Rotenone	decreases expression	1
Smoke	decreases expression	1
Tamoxifen	decreases expression, affects cotreatment	1
Tretinoin	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
CHEMBL4012573	Binding	Binding affinity to serine/threonine-protein phosphatase 6 regulatory ankyrin repeat subunit A in human INA-6 cells after 3 hrs by nanoLC-MS/MS method	Ugi Reaction-Derived α-Acyl Aminocarboxamides Bind to Phosphatidylinositol 3-Kinase-Related Kinases, Inhibit HSF1-Dependent Heat Shock Response, and Induce Apoptosis in Multiple Myeloma Cells. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SC54	HAP1 ANKRD28 (-) 1	Cancer cell line	Male
CVCL_SC55	HAP1 ANKRD28 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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