ANKMY2

Summary

ANKMY2 (ankyrin repeat and MYND domain containing 2, HGNC:25370) is a protein-coding gene on chromosome 7p21.1, encoding Ankyrin repeat and MYND domain-containing protein 2 (Q8IV38). May be involved in the trafficking of signaling proteins to the cilia.

Predicted to enable enzyme binding activity and zinc ion binding activity. Predicted to be located in cilium.

Source: NCBI Gene 57037 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 85 total
• MANE Select transcript: NM_020319

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25370
Approved symbol	ANKMY2
Name	ankyrin repeat and MYND domain containing 2
Location	7p21.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP564O043, ZMYND20
Ensembl gene	ENSG00000106524
Ensembl biotype	protein_coding
Entrez	57037

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000306999, ENST00000421746, ENST00000447802, ENST00000453623, ENST00000627859, ENST00000628652, ENST00000897542, ENST00000897543, ENST00000897544, ENST00000949062, ENST00000949063, ENST00000949064

RefSeq mRNA: 1 — MANE Select: NM_020319 NM_020319

CCDS: CCDS5361

Canonical transcript exons

ENST00000306999 — 10 exons

Exon	Start	End
ENSE00000672272	16609630	16609765
ENSE00000672273	16610549	16610763
ENSE00000672276	16615744	16615904
ENSE00000672279	16624983	16625081
ENSE00000831810	16604721	16604849
ENSE00001675889	16599779	16600945
ENSE00003476078	16602380	16602509
ENSE00003600355	16627040	16627178
ENSE00003608961	16636391	16636455
ENSE00003848600	16645507	16645754

Expression profiles

Bgee: expression breadth ubiquitous, 293 present calls, max score 96.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9766 / max 132.9588, expressed in 1729 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82895	6.0528	1607
82894	1.5137	985
82896	1.4101	748

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	96.20	gold quality
cortical plate	UBERON:0005343	94.73	gold quality
bronchial epithelial cell	CL:0002328	94.44	gold quality
triceps brachii	UBERON:0001509	93.70	gold quality
epithelium of bronchus	UBERON:0002031	93.70	gold quality
seminal vesicle	UBERON:0000998	93.67	gold quality
Brodmann (1909) area 46	UBERON:0006483	93.59	gold quality
bronchus	UBERON:0002185	93.51	gold quality
pigmented layer of retina	UBERON:0001782	93.32	gold quality
parotid gland	UBERON:0001831	93.30	gold quality
retina	UBERON:0000966	93.29	gold quality
biceps brachii	UBERON:0001507	93.08	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	93.06	gold quality
myocardium	UBERON:0002349	92.85	gold quality
orbitofrontal cortex	UBERON:0004167	92.61	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.42	gold quality
pons	UBERON:0000988	92.11	gold quality
heart right ventricle	UBERON:0002080	92.10	gold quality
jejunal mucosa	UBERON:0000399	92.03	gold quality
skin of hip	UBERON:0001554	91.69	gold quality
superior frontal gyrus	UBERON:0002661	91.63	gold quality
tibia	UBERON:0000979	91.45	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.39	gold quality
endothelial cell	CL:0000115	91.38	gold quality
gluteal muscle	UBERON:0002000	91.33	gold quality
upper leg skin	UBERON:0004262	91.30	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.15	gold quality
parietal pleura	UBERON:0002400	91.13	gold quality
postcentral gyrus	UBERON:0002581	90.93	gold quality
jejunum	UBERON:0002115	90.84	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6911	no	224.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

50 targeting ANKMY2, 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-4668-3P	100.00	68.74	2635
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-5004-5P	99.68	66.63	1294
HSA-MIR-12124	99.68	69.17	2700
HSA-MIR-3177-5P	99.65	70.38	1174
HSA-MIR-5700	99.64	69.88	2280
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-875-3P	99.63	69.47	2548
HSA-MIR-7152-5P	99.60	69.33	2094
HSA-MIR-516B-5P	99.56	66.33	1495
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-510-3P	99.54	70.06	2965
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-6727-3P	99.49	65.92	1333
HSA-MIR-4722-3P	99.35	65.22	1099
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-190B-3P	99.33	68.29	1382
HSA-MIR-1912-3P	99.32	67.40	936
HSA-MIR-183-5P	99.31	72.27	1164
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-4710	98.61	65.96	1048

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ankmy2a	ENSDARG00000005948
danio_rerio	ankmy2b	ENSDARG00000093668
mus_musculus	Ankmy2	ENSMUSG00000036188
rattus_norvegicus	Ankmy2	ENSRNOG00000005623
drosophila_melanogaster	CG8003	FBGN0036096

Protein

Protein identifiers

Ankyrin repeat and MYND domain-containing protein 2 — Q8IV38 (reviewed: Q8IV38)

All UniProt accessions (3): Q8IV38, F8WB95, G3V0G5

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in the trafficking of signaling proteins to the cilia.

Subunit / interactions. Interacts with the retinal-specific guanylyl cyclase GC1.

Subcellular location. Cell projection. Cilium.

RefSeq proteins (1): NP_064715* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR002893	Znf_MYND	Domain
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR052452	Ankyrin-MYND_dom_contain_2	Family

Pfam: PF01753, PF12796

UniProt features (16 total): binding site 8, repeat 3, chain 1, sequence conflict 1, zinc finger region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IV38-F1	86.89	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.

Ligand- & substrate-binding residues (8): 335; 341; 345; 353; 357; 320; 323; 332

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 178 (showing top): PAX4_01, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, ACEVEDO_LIVER_CANCER_UP, MEF2_Q6_01, CTAWWWATA_RSRFC4_Q2, TGGAAA_NFAT_Q4_01, MEF2_03, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOCC_CILIUM, SCGGAAGY_ELK1_02, YATGNWAAT_OCT_C, MMEF2_Q6

GO Biological Process (0):

GO Molecular Function (4): zinc ion binding (GO:0008270), enzyme binding (GO:0019899), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (2): cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transition metal ion binding	1
protein binding	1
binding	1
cation binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1190 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKMY2	TSPAN13	O95857	640
ANKMY2	LRRC72	A6NJI9	608
ANKMY2	BZW2	Q9Y6E2	587
ANKMY2	EGLN1	Q9GZT9	545
ANKMY2	SNX13	Q9Y5W8	542
ANKMY2	PLD4	Q96BZ4	499
ANKMY2	AGO3	Q9H9G7	494
ANKMY2	PLD3	Q8IV08	474
ANKMY2	SMIM19	Q96E16	448
ANKMY2	PHF20L1	A8MW92	444
ANKMY2	IFRD1	O00458	427
ANKMY2	OR8B12	Q8NGG6	419
ANKMY2	LMAN2L	Q9H0V9	413
ANKMY2	IFT80	Q9P2H3	409
ANKMY2	CRPPA	A4D126	401

IntAct

31 interactions, top by confidence:

A	B	Type	Score
SNX4	SNX30	psi-mi:“MI:0914”(association)	0.830
ADCY9	NEMP1	psi-mi:“MI:0914”(association)	0.640
SPSB2	ARHGEF10	psi-mi:“MI:0914”(association)	0.530
ANKMY2	ADCY3	psi-mi:“MI:0914”(association)	0.530
ANKMY2	TINF2	psi-mi:“MI:0915”(physical association)	0.510
DNAAF1	OBSL1	psi-mi:“MI:0914”(association)	0.510
ANKMY2	HSP90AB1	psi-mi:“MI:0915”(physical association)	0.400
ANKMY2	ACD	psi-mi:“MI:0915”(physical association)	0.370
ANKMY2	POT1	psi-mi:“MI:0915”(physical association)	0.370
Cep152	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
AGO3	AP3B1	psi-mi:“MI:0914”(association)	0.350
ANKMY2	ADCY6	psi-mi:“MI:0914”(association)	0.350
PTGES3	SBNO1	psi-mi:“MI:0914”(association)	0.350
SPSB4	CCDC85C	psi-mi:“MI:0914”(association)	0.350
ADCY8	STX7	psi-mi:“MI:0914”(association)	0.350
GADL1	HSPA8	psi-mi:“MI:0914”(association)	0.350
ADCY2	ANKMY2	psi-mi:“MI:0914”(association)	0.350
TRPV5	HNRNPCL1	psi-mi:“MI:0914”(association)	0.350
ADCY9	NOS1	psi-mi:“MI:0914”(association)	0.350
GUCY1B1	MXRA7	psi-mi:“MI:0914”(association)	0.350
ADCY9	COX7A2L	psi-mi:“MI:0914”(association)	0.350
ADCY9	TAPBP	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350
FKBP5	EL52	psi-mi:“MI:0914”(association)	0.350
PLGRKT	PGRMC1	psi-mi:“MI:2364”(proximity)	0.270
TINF2	ANKMY2	psi-mi:“MI:0915”(physical association)	0.000
DNAAF1	ANKMY2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (89): ANKMY2 (Affinity Capture-MS), ANKMY2 (Affinity Capture-MS), ANKMY2 (Co-fractionation), ANKMY2 (Co-fractionation), ANKMY2 (Co-fractionation), ARFGEF2 (Co-fractionation), HNRNPF (Co-fractionation), KIF5C (Co-fractionation), PBDC1 (Co-fractionation), ANKMY2 (Affinity Capture-MS), ANKMY2 (Affinity Capture-MS), GUCY1B3 (Affinity Capture-MS), KANSL3 (Affinity Capture-MS), ADCY3 (Affinity Capture-MS), HSP90AB3P (Affinity Capture-MS)

ESM2 similar proteins: A0A1P8AW69, A1A5P5, A2RRS8, A5A6J9, A5PK42, E7F7X0, O14879, O55036, P54274, Q07617, Q0VAK6, Q0VCS9, Q14D04, Q28IV3, Q32NR4, Q32NU8, Q4R6M4, Q5JTW2, Q5M990, Q5T0N1, Q5U2X2, Q5U3N0, Q5ZKQ3, Q5ZMD2, Q68FF0, Q68FQ7, Q6AY22, Q6AYP3, Q6DI40, Q6IRU7, Q6NSI8, Q6NU95, Q6PID6, Q7Z3E5, Q7ZU45, Q80VM3, Q80ZX8, Q8C5W4, Q8C9J3, Q8IV38

Diamond homologs: Q09701, Q0VCS9, Q3TPE9, Q5EA33, Q5ZMD2, Q8IV38, Q8WVL7, Q4I8B6, Q8N283, Q5U312, Q80VM7, Q8CGB3, Q8HYY4, Q8TF21, Q9BZF9, Q9EP71, Q9GL21, Q9P0K7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 40 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
Adenylate cyclase inhibitory pathway	5	141.0×	2e-08
PKA activation in glucagon signalling	5	124.4×	2e-08
PKA activation	5	117.5×	2e-08
Activation of GABAB receptors	5	111.3×	3e-08
PKA-mediated phosphorylation of CREB	5	105.7×	3e-08
GABA B receptor activation	5	100.7×	3e-08
Anti-inflammatory response favouring Leishmania parasite infection	5	72.9×	1e-07
Leishmania parasite growth and survival	5	72.9×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
cellular response to glucagon stimulus	5	113.9×	9e-08
vascular endothelial cell response to laminar fluid shear stress	5	99.0×	1e-07
renal water homeostasis	5	69.0×	7e-07
adenylate cyclase-activating G protein-coupled receptor signaling pathway	5	15.3×	5e-04
intracellular signal transduction	7	7.2×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1982 predictions. Top by Δscore:

Variant	Effect	Δscore
7:16609628:A:AC	donor_gain	1.0000
7:16609629:C:CC	donor_gain	1.0000
7:16615910:C:CT	acceptor_gain	1.0000
7:16615911:A:AC	acceptor_gain	1.0000
7:16615911:A:C	acceptor_gain	1.0000
7:16626765:A:C	donor_gain	1.0000
7:16627027:A:AC	donor_gain	1.0000
7:16627028:C:CC	donor_gain	1.0000
7:16627036:T:TA	donor_gain	1.0000
7:16636386:CTTA:C	donor_loss	1.0000
7:16636387:TTA:T	donor_loss	1.0000
7:16636389:A:T	donor_loss	1.0000
7:16636390:C:A	donor_loss	1.0000
7:16636451:AGTAC:A	acceptor_gain	1.0000
7:16636452:GTAC:G	acceptor_gain	1.0000
7:16636453:TAC:T	acceptor_gain	1.0000
7:16636453:TACC:T	acceptor_loss	1.0000
7:16636454:AC:A	acceptor_gain	1.0000
7:16636454:ACC:A	acceptor_loss	1.0000
7:16636455:CC:C	acceptor_gain	1.0000
7:16636456:C:CC	acceptor_gain	1.0000
7:16645501:CCGTA:C	donor_loss	1.0000
7:16645502:CGTA:C	donor_loss	1.0000
7:16645503:GTAC:G	donor_loss	1.0000
7:16645504:TA:T	donor_loss	1.0000
7:16645505:ACC:A	donor_loss	1.0000
7:16645521:T:TA	donor_gain	1.0000
7:16600943:CGT:C	acceptor_gain	0.9900
7:16600946:C:CC	acceptor_gain	0.9900
7:16600950:T:TC	acceptor_gain	0.9900

AlphaMissense

2931 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:16624987:A:C	F122L	1.000
7:16624987:A:T	F122L	1.000
7:16624989:A:G	F122L	1.000
7:16604729:A:G	C335R	0.999
7:16604738:A:G	C332R	0.999
7:16604772:G:C	C320W	0.999
7:16604774:A:G	C320R	0.999
7:16624988:A:C	F122C	0.999
7:16624988:A:G	F122S	0.999
7:16624991:G:T	A121D	0.999
7:16624994:G:T	A120E	0.999
7:16624995:C:G	A120P	0.999
7:16624997:A:C	M119R	0.999
7:16625011:T:A	R114S	0.999
7:16625011:T:G	R114S	0.999
7:16625012:C:G	R114T	0.999
7:16625023:G:C	N110K	0.999
7:16625023:G:T	N110K	0.999
7:16627053:A:C	F86L	0.999
7:16627053:A:T	F86L	0.999
7:16627055:A:G	F86L	0.999
7:16627070:A:G	Y81H	0.999
7:16604737:C:G	C332S	0.998
7:16604738:A:T	C332S	0.998
7:16604773:C:T	C320Y	0.998
7:16604803:C:T	G310D	0.998
7:16609658:A:G	L285P	0.998
7:16624997:A:G	M119T	0.998
7:16624997:A:T	M119K	0.998
7:16627048:G:T	A88E	0.998

dbSNP variants (sampled 300 via entrez): RS1000026781 (7:16644385 A>C), RS1000084607 (7:16601783 C>A), RS1000105163 (7:16621583 T>C), RS1000136470 (7:16612750 T>C), RS1000144388 (7:16621280 A>C), RS1000163335 (7:16645614 T>A,C), RS1000188810 (7:16610067 T>A), RS1000217413 (7:16630577 T>C), RS1000254720 (7:16638768 T>C), RS1000376941 (7:16633168 T>C), RS1000384134 (7:16618004 T>G), RS1000406732 (7:16604235 T>G), RS1000439854 (7:16606552 C>T), RS1000459615 (7:16622115 G>A), RS1000562718 (7:16637024 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases methylation, increases expression	5
sodium arsenite	decreases expression, increases abundance, affects cotreatment, increases expression	4
trichostatin A	affects cotreatment, decreases expression	2
Cisplatin	affects expression, increases expression	2
Estradiol	affects expression, decreases expression	2
Tretinoin	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
ICG 001	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Vorinostat	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Calcitriol	increases expression	1
Dexamethasone	decreases expression, affects cotreatment	1
Indomethacin	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1

Clinical trials (associated diseases)

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