ANKRD36

Summary

ANKRD36 (ankyrin repeat domain 36, HGNC:24079) is a protein-coding gene on chromosome 2q11.2, encoding Ankyrin repeat domain-containing protein 36A (A6QL64).

Predicted to enable ion channel inhibitor activity.

Source: NCBI Gene 375248 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 76 total — 2 likely-pathogenic
• MANE Select transcript: NM_001354587

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24079
Approved symbol	ANKRD36
Name	ankyrin repeat domain 36
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	UNQ2430
Ensembl gene	ENSG00000135976
Ensembl biotype	protein_coding
OMIM	620262
Entrez	375248

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 3 retained_intron

ENST00000420699, ENST00000421946, ENST00000452478, ENST00000461153, ENST00000494336, ENST00000652721

RefSeq mRNA: 2 — MANE Select: NM_001354587 NM_001354587, NM_198555

CCDS: CCDS92815

Canonical transcript exons

ENST00000420699 — 76 exons

Exon	Start	End
ENSE00002433137	97205940	97205968
ENSE00002434961	97164283	97164311
ENSE00002439091	97187329	97187401
ENSE00002440938	97151879	97151939
ENSE00002442175	97142763	97142835
ENSE00002442442	97204191	97204263
ENSE00002445917	97224806	97224879
ENSE00002445952	97142640	97142668
ENSE00002448849	97191109	97191181
ENSE00002454024	97124460	97124597
ENSE00002455378	97192858	97192886
ENSE00002455803	97194845	97194917
ENSE00002456047	97164397	97164469
ENSE00002457486	97196716	97196788
ENSE00002458066	97202202	97202230
ENSE00002458592	97158588	97158655
ENSE00002458594	97152504	97152534
ENSE00002458841	97185316	97185344
ENSE00002459924	97144640	97144712
ENSE00002460261	97179738	97179766
ENSE00002462665	97187198	97187226
ENSE00002463900	97167695	97167767
ENSE00002467276	97202321	97202393
ENSE00002467292	97196593	97196621
ENSE00002467634	97144518	97144546
ENSE00002468716	97185438	97185510
ENSE00002470286	97206063	97206135
ENSE00002472644	97194726	97194754
ENSE00002475713	97209681	97209709
ENSE00002475870	97127067	97127134
ENSE00002484838	97181721	97181793
ENSE00002484988	97207934	97208006
ENSE00002485219	97167577	97167605
ENSE00002485335	97198463	97198491
ENSE00002487167	97249144	97249214
ENSE00002487418	97204068	97204096
ENSE00002490029	97183582	97183654
ENSE00002492259	97200334	97200362
ENSE00002492329	97146486	97146516
ENSE00002493884	97154675	97154741
ENSE00002494091	97207811	97207839
ENSE00002496065	97211669	97211741
ENSE00002499851	97162099	97162138
ENSE00002503831	97181598	97181626
ENSE00002513687	97190978	97191006
ENSE00002514520	97192981	97193053
ENSE00002518091	97189087	97189115
ENSE00002520672	97198586	97198658
ENSE00002521625	97158107	97158167
ENSE00002523989	97189218	97189290
ENSE00002526349	97211546	97211574
ENSE00002526831	97122887	97122993
ENSE00002527380	97149295	97149361
ENSE00002531900	97183459	97183487
ENSE00002533542	97209800	97209872
ENSE00002535273	97213419	97213447
ENSE00002535496	97179861	97179933
ENSE00002718632	97118344	97118517
ENSE00002726064	97200453	97200525
ENSE00003476263	97118064	97118178
ENSE00003483419	97243846	97244029
ENSE00003527606	97245157	97246071
ENSE00003541494	97241266	97241479
ENSE00003560731	97213542	97213614
ENSE00003569096	97233730	97233871
ENSE00003604081	97249552	97249645
ENSE00003618436	97247476	97247628
ENSE00003621730	97219050	97219078
ENSE00003626869	97217300	97217372
ENSE00003643524	97217177	97217205
ENSE00003654943	97215301	97215329
ENSE00003670259	97250144	97250173
ENSE00003677340	97219174	97219246
ENSE00003810376	97215425	97215497
ENSE00003835229	97113153	97113936
ENSE00003846080	97264329	97264521

Expression profiles

Bgee: expression breadth ubiquitous, 137 present calls, max score 98.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.7931 / max 116.1405, expressed in 1530 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
21503	3.2294	1088
21504	2.4514	1004
202309	0.6231	338
202308	0.3900	197
202307	0.0991	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	98.41	gold quality
calcaneal tendon	UBERON:0003701	96.68	gold quality
sural nerve	UBERON:0015488	96.58	gold quality
bone marrow cell	CL:0002092	90.22	gold quality
right hemisphere of cerebellum	UBERON:0014890	89.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.56	gold quality
cerebellar hemisphere	UBERON:0002245	88.45	gold quality
cerebellar cortex	UBERON:0002129	88.38	gold quality
adrenal tissue	UBERON:0018303	88.25	gold quality
bone marrow	UBERON:0002371	88.24	gold quality
cerebellum	UBERON:0002037	88.13	gold quality
tibial nerve	UBERON:0001323	87.45	gold quality
right uterine tube	UBERON:0001302	86.73	gold quality
tonsil	UBERON:0002372	85.25	gold quality
left ovary	UBERON:0002119	85.11	gold quality
colonic epithelium	UBERON:0000397	84.76	gold quality
right ovary	UBERON:0002118	84.69	gold quality
cortical plate	UBERON:0005343	84.64	gold quality
ovary	UBERON:0000992	84.61	gold quality
mucosa of stomach	UBERON:0001199	84.08	gold quality
left testis	UBERON:0004533	84.07	gold quality
testis	UBERON:0000473	84.05	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.91	gold quality
body of uterus	UBERON:0009853	83.79	gold quality
body of pancreas	UBERON:0001150	83.61	gold quality
right testis	UBERON:0004534	83.53	gold quality
thoracic mammary gland	UBERON:0005200	83.32	gold quality
ventricular zone	UBERON:0003053	82.63	gold quality
ganglionic eminence	UBERON:0004023	82.48	gold quality
uterine cervix	UBERON:0000002	82.36	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-GEOD-86618	yes	764.69
E-MTAB-9154	yes	721.17
E-MTAB-7052	yes	233.49
E-ANND-3	yes	12.82
E-MTAB-6379	no	2286.14
E-MTAB-7606	no	1137.74

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• CircANKRD36 Knockdown Suppressed Cell Viability and Migration of LPS-Stimulated RAW264.7 Cells by Sponging MiR-330. (PMID:34041646)
• ANKRD36 Is Involved in Hypertension by Altering Expression of ENaC Genes. (PMID:34615377)
• Mechanism of CircANKRD36 regulating cell heterogeneity and endothelial mesenchymal transition in aortic valve stromal cells by regulating miR-599 and TGF-beta signaling pathway. (PMID:35074490)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	pain	FBGN0060296

Paralogs (3): ANKRD31 (ENSG00000145700), ANKRD36C (ENSG00000174501), ANKRD36B (ENSG00000196912)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 36A — A6QL64 (reviewed: A6QL64)

All UniProt accessions (1): A6QL64

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ANKRD36 family.

Isoforms (4)

UniProt ID	Names	Canonical?
A6QL64-1	1	yes
A6QL64-3	2
A6QL64-4	3
A6QL64-5	4

RefSeq proteins (1): NP_001341516* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR039497	CC144C-like_CC_dom	Domain
IPR050657

Pfam: PF12796, PF14915

UniProt features (43 total): compositionally biased region 15, splice variant 9, repeat 6, region of interest 6, coiled-coil region 4, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6QL64-F1	50.82	0.08

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 72 (showing top): FUJII_YBX1_TARGETS_DN, chr2q11, KRIGE_RESPONSE_TO_TOSEDOSTAT_6HR_DN, WHITFIELD_CELL_CYCLE_S, FOXN3_TARGET_GENES, MCRS1_TARGET_GENES, NAB2_TARGET_GENES, SKIL_TARGET_GENES, SNRNP70_TARGET_GENES, ZNF407_TARGET_GENES, ZNF423_TARGET_GENES, ZNF528_TARGET_GENES, GSE11057_NAIVE_CD4_VS_PBMC_CD4_TCELL_UP, MIR3085_3P, MIR3064_5P

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1

Protein interactions and networks

STRING

1284 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD36	TMEM269	A0A1B0GVZ9	652
ANKRD36	FAHD2B	Q6P2I3	624
ANKRD36	FAM178B	Q8IXR5	570
ANKRD36	ITPRIPL1	Q6GPH6	450
ANKRD36	USP17L13	C9JLJ4	447
ANKRD36	NAB1	Q13506	444
ANKRD36	PPRC1	Q5VV67	439
ANKRD36	CNNM3	Q8NE01	398
ANKRD36	FER1L5	A0AVI2	370
ANKRD36	ANKRD34A	Q69YU3	355
ANKRD36	KIAA1958	Q8N8K9	353
ANKRD36	FAM193A	P78311	348
ANKRD36	CNNM4	Q6P4Q7	348
ANKRD36	ASTL	Q6HA08	344
ANKRD36	OR4C5	Q8NGB2	336

IntAct

10 interactions, top by confidence:

A	B	Type	Score
ANKRD36	TYW5	psi-mi:“MI:0915”(physical association)	0.400
PSMD12	PSMD1	psi-mi:“MI:0914”(association)	0.350
PSMD6	PSMD1	psi-mi:“MI:0914”(association)	0.350
SEM1	PSMD1	psi-mi:“MI:0914”(association)	0.350
KRT40	ANKRD36	psi-mi:“MI:0914”(association)	0.350
KRT37	ANKRD36	psi-mi:“MI:0914”(association)	0.350
FMR1	ANKRD36	psi-mi:“MI:0915”(physical association)	0.000
DISC1	ANKRD36	psi-mi:“MI:0915”(physical association)	0.000
ITSN1	ANKRD36	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (36): ANKRD36 (Affinity Capture-MS), ANKRD36 (Affinity Capture-MS), ANKRD36 (Affinity Capture-MS), ANKRD36 (Two-hybrid), ANKRD36 (Affinity Capture-RNA), ANKRD36 (Two-hybrid), EVI5L (Two-hybrid), HMBOX1 (Two-hybrid), GOLGA2 (Two-hybrid), STAC3 (Two-hybrid), IKZF1 (Two-hybrid), SYCE1L (Two-hybrid), ANKRD36 (Affinity Capture-MS), TYW5 (Affinity Capture-MS), ANKRD36 (Affinity Capture-MS)

ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0U1RQI7, A0A1D9BZF0, A6NJU9, A6NKU9, A6NNC1, A6QL64, A8MRT5, B2SU53, B4DH59, B5DUH6, C9JG80, E5RHQ5, F8W0I5, P01068, P02895, P06916, P07907, P0DKL2, P0DPF3, P0DRJ4, P13208, P14417, P32072, P83060, Q26755, Q3BBV0, Q3BBV2, Q4ZJY7, Q4ZJZ0, Q4ZJZ1, Q4ZJZ3, Q5TAG4, Q5TI25, Q6P3W6, Q6RY98, Q7T3L1, Q86SG3, Q86T75

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A6QL64, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q4R3S3, Q4UJ75, Q5CZ79, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IVF6, Q8IYA2, Q8N2N9, Q8NF67, Q92527, Q96IX9, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q3MJ40, Q5JPF3, Q6NUI1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	2
Uncertain significance	1
Likely benign	18
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
917512	NM_001354587.1(ANKRD36):c.2479-1G>A	Likely pathogenic
917513	NM_001354587.1(ANKRD36):c.2589T>G (p.Ser863Arg)	Likely pathogenic

SpliceAI

8499 predictions. Top by Δscore:

Variant	Effect	Δscore
2:97113928:G:GT	donor_gain	1.0000
2:97118059:CACAG:C	acceptor_loss	1.0000
2:97118061:CAGGA:C	acceptor_loss	1.0000
2:97118062:A:AG	acceptor_gain	1.0000
2:97118063:G:A	acceptor_loss	1.0000
2:97118063:G:GG	acceptor_gain	1.0000
2:97118063:GGACC:G	acceptor_gain	1.0000
2:97124458:A:AG	acceptor_gain	1.0000
2:97124459:G:GG	acceptor_gain	1.0000
2:97124459:GATCA:G	acceptor_gain	1.0000
2:97124567:GAGAT:G	donor_gain	1.0000
2:97124584:GC:G	donor_gain	1.0000
2:97124585:C:G	donor_gain	1.0000
2:97124593:AGAGT:A	donor_gain	1.0000
2:97124594:GAGT:G	donor_gain	1.0000
2:97124594:GAGTG:G	donor_gain	1.0000
2:97124596:GT:G	donor_gain	1.0000
2:97124597:TG:T	donor_loss	1.0000
2:97124598:G:GG	donor_gain	1.0000
2:97124598:G:T	donor_loss	1.0000
2:97124600:A:AG	donor_loss	1.0000
2:97127060:T:G	acceptor_gain	1.0000
2:97127064:T:G	acceptor_gain	1.0000
2:97127065:A:AG	acceptor_gain	1.0000
2:97127066:G:GG	acceptor_gain	1.0000
2:97127066:GC:G	acceptor_gain	1.0000
2:97142639:GT:G	acceptor_gain	1.0000
2:97149285:T:TA	acceptor_gain	1.0000
2:97149292:TA:T	acceptor_loss	1.0000
2:97149292:TAGGA:T	acceptor_gain	1.0000

AlphaMissense

12643 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:97118480:T:C	L150P	0.995
2:97118344:G:C	A105P	0.994
2:97118384:T:C	L118P	0.993
2:97118085:T:G	C73W	0.992
2:97118443:G:C	A138P	0.992
2:97118178:G:C	K104N	0.991
2:97118178:G:T	K104N	0.991
2:97118381:T:C	L117P	0.991
2:97124476:G:C	A204P	0.991
2:97113882:T:C	L48P	0.990
2:97118083:T:C	C73R	0.990
2:97118432:C:A	A134D	0.990
2:97118444:C:A	A138D	0.989
2:97122948:T:C	L183S	0.989
2:97113858:T:A	V40D	0.988
2:97118117:T:C	L84P	0.988
2:97118168:C:A	P101H	0.988
2:97124513:T:C	L216P	0.988
2:97118171:T:C	L102P	0.987
2:97122912:C:A	A171D	0.987
2:97124516:T:C	L217P	0.987
2:97118064:G:C	R66S	0.986
2:97118064:G:T	R66S	0.986
2:97118081:C:A	A72D	0.986
2:97124477:C:A	A204D	0.986
2:97113894:T:C	L52P	0.985
2:97118084:G:A	C73Y	0.985
2:97124480:T:A	V205D	0.985
2:97118086:G:C	A74P	0.984
2:97118413:G:C	D128H	0.984

dbSNP variants (sampled 300 via entrez): RS1000113457 (2:97187442 A>T), RS1000113821 (2:97141131 A>G), RS1000140911 (2:97122073 C>T), RS1000159129 (2:97230967 C>A,T), RS1000178453 (2:97165768 T>C), RS1000310315 (2:97210053 G>A), RS1000312055 (2:97194090 A>G), RS1000345780 (2:97163621 G>A), RS1000365637 (2:97113554 C>T), RS1000402277 (2:97140768 T>G), RS1000462429 (2:97155983 T>C), RS1000494706 (2:97136168 T>C), RS1000507911 (2:97183055 G>A), RS1000595223 (2:97170542 T>A), RS1000598228 (2:97129930 C>G)

Disease associations

OMIM: gene MIM:620262 | disease phenotypes: MIM:228900, MIM:258150, MIM:220290, MIM:607197

GenCC curated gene-disease

Mondo (3): acromesomelic dysplasia 2B (MONDO:0009231), spermatogenic failure 1 (MONDO:0009776), hearing loss, autosomal recessive (MONDO:0019588)

Orphanet (3): Fibular aplasia-complex brachydactyly syndrome (Orphanet:2639), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636)

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST008522_58	Bitter alcoholic beverage consumption	8.000000e-07
GCST008757_24	Alcohol consumption	2.000000e-10
GCST010697_1	Cortical surface area (min-P)	6.000000e-12
GCST010698_17	Subcortical volume (min-P)	9.000000e-09
GCST010699_105	Brain morphology (min-P)	2.000000e-11
GCST010700_9	Cortical thickness (MOSTest)	9.000000e-14
GCST010701_54	Cortical surface area (MOSTest)	2.000000e-16
GCST010702_79	Subcortical volume (MOSTest)	5.000000e-09
GCST010703_322	Brain morphology (MOSTest)	1.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
C564609	Deafness, Autosomal Recessive (supp.)
C537931	Fibular hypoplasia and complex brachydactyly (supp.)
C562902	Oligosynaptic Infertility (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	decreases expression, increases expression	2
Valproic Acid	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	increases abundance, decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
coumarin	decreases phosphorylation	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Arsenic	decreases expression, increases abundance	1
Vehicle Emissions	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Diethylhexyl Phthalate	decreases expression	1
Diuron	decreases expression	1
Drugs, Chinese Herbal	decreases expression	1
Fluorouracil	increases expression	1
Methyl Methanesulfonate	increases expression	1
Silicon Dioxide	increases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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