ANKRD36C

Summary

ANKRD36C (ankyrin repeat domain 36C, HGNC:32946) is a protein-coding gene on chromosome 2q11.1, encoding Ankyrin repeat domain-containing protein 36C (Q5JPF3).

Predicted to enable ion channel inhibitor activity.

Source: NCBI Gene 400986 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 32 total
• MANE Select transcript: NM_001393982

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32946
Approved symbol	ANKRD36C
Name	ankyrin repeat domain 36C
Location	2q11.1
Locus type	gene with protein product
Status	Approved
Aliases	DKFZp667P0924
Ensembl gene	ENSG00000174501
Ensembl biotype	protein_coding
Entrez	400986

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 2 retained_intron, 2 nonsense_mediated_decay

ENST00000295246, ENST00000456556, ENST00000488721, ENST00000528268, ENST00000531153, ENST00000534304, ENST00000612359, ENST00000619511

RefSeq mRNA: 2 — MANE Select: NM_001393982 NM_001310154, NM_001393982

CCDS: CCDS92809

Canonical transcript exons

ENST00000295246 — 88 exons

Exon	Start	End
ENSE00001745737	95982256	95982362
ENSE00002431177	95987092	95987206
ENSE00002431421	95960473	95960545
ENSE00002434811	95986751	95986924
ENSE00002437261	95851694	95851787
ENSE00002439481	95852126	95852196
ENSE00002450650	95958757	95958785
ENSE00002460612	95938829	95938901
ENSE00002465474	95956786	95956816
ENSE00002471049	95945114	95945174
ENSE00002481742	95941160	95941199
ENSE00002485256	95958591	95958663
ENSE00002488145	95980648	95980785
ENSE00002490625	95938987	95939015
ENSE00002497032	95960639	95960667
ENSE00002498312	95951348	95951408
ENSE00002503304	95962519	95962547
ENSE00002512320	95950749	95950779
ENSE00002513460	95853709	95853861
ENSE00002521575	95944627	95944694
ENSE00002524688	95851166	95851195
ENSE00002526875	95953939	95954005
ENSE00002531302	95978122	95978189
ENSE00002534830	95962352	95962424
ENSE00002535062	95948530	95948596
ENSE00003458937	95859861	95860074
ENSE00003465352	95912244	95912316
ENSE00003478229	95917855	95917927
ENSE00003478407	95880595	95880623
ENSE00003482133	95899308	95899336
ENSE00003482141	95886216	95886244
ENSE00003484895	95929239	95929267
ENSE00003485542	95887925	95887997
ENSE00003502291	95882469	95882497
ENSE00003508887	95925352	95925424
ENSE00003520849	95899145	95899217
ENSE00003531359	95880427	95880499
ENSE00003544500	95914275	95914303
ENSE00003550244	95916143	95916171
ENSE00003553641	95921607	95921679
ENSE00003554485	95925519	95925547
ENSE00003555208	95884173	95884245
ENSE00003555571	95918014	95918042
ENSE00003558952	95923661	95923689
ENSE00003562032	95927214	95927286
ENSE00003564919	95935454	95935526
ENSE00003568390	95891665	95891737
ENSE00003580703	95889966	95889994
ENSE00003592005	95889799	95889871
ENSE00003595491	95915980	95916052
ENSE00003596000	95888092	95888120
ENSE00003598944	95927381	95927409
ENSE00003601656	95855266	95856180
ENSE00003605336	95929072	95929144
ENSE00003622784	95904761	95904833
ENSE00003624010	95921782	95921810
ENSE00003624429	95891832	95891860
ENSE00003626912	95882302	95882374
ENSE00003636285	95914108	95914180
ENSE00003637864	95867440	95867581
ENSE00003650405	95935616	95935644
ENSE00003676384	95910540	95910568
ENSE00003677601	95886048	95886120
ENSE00003678198	95857309	95857492
ENSE00003687343	95923495	95923567
ENSE00003694030	95884340	95884368
ENSE00003717968	95919892	95919920
ENSE00003720056	95991512	95991824
ENSE00003727805	95912407	95912435
ENSE00003735058	95893696	95893724
ENSE00003922612	95908669	95908697
ENSE00003926932	95919733	95919805
ENSE00003930385	95876439	95876512
ENSE00003930700	95893533	95893605
ENSE00003931504	95895562	95895590
ENSE00003932508	95906794	95906822
ENSE00003932745	95910373	95910445
ENSE00003933005	95902886	95902958
ENSE00003933038	95895399	95895471
ENSE00003935112	95897437	95897465
ENSE00003935122	95906631	95906703
ENSE00003935352	95901178	95901206
ENSE00003935764	95901015	95901087
ENSE00003936341	95897270	95897342
ENSE00003936766	95904924	95904952
ENSE00003937496	95849548	95850566
ENSE00003937616	95903053	95903081
ENSE00003937927	95908502	95908574

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.31.

FANTOM5 (CAGE): breadth broad, TPM avg 0.6104 / max 54.2742, expressed in 316 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29700	0.5572	306
29697	0.0532	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	98.31	gold quality
calcaneal tendon	UBERON:0003701	97.46	gold quality
sural nerve	UBERON:0015488	97.46	gold quality
bone marrow cell	CL:0002092	94.60	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.48	gold quality
adrenal tissue	UBERON:0018303	90.48	gold quality
bone marrow	UBERON:0002371	90.19	gold quality
minor salivary gland	UBERON:0001830	88.16	gold quality
tonsil	UBERON:0002372	88.01	gold quality
saliva-secreting gland	UBERON:0001044	87.56	gold quality
colonic epithelium	UBERON:0000397	87.53	gold quality
testis	UBERON:0000473	84.93	gold quality
left testis	UBERON:0004533	84.47	gold quality
right hemisphere of cerebellum	UBERON:0014890	84.31	gold quality
right testis	UBERON:0004534	84.17	gold quality
cortical plate	UBERON:0005343	83.93	gold quality
cerebellar cortex	UBERON:0002129	83.35	gold quality
cerebellar hemisphere	UBERON:0002245	83.25	gold quality
cerebellum	UBERON:0002037	83.19	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.82	gold quality
mucosa of stomach	UBERON:0001199	82.13	gold quality
superior frontal gyrus	UBERON:0002661	81.96	gold quality
ganglionic eminence	UBERON:0004023	80.37	gold quality
ventricular zone	UBERON:0003053	80.15	gold quality
thoracic mammary gland	UBERON:0005200	79.66	gold quality
right uterine tube	UBERON:0001302	79.62	gold quality
ovary	UBERON:0000992	79.37	gold quality
left ovary	UBERON:0002119	79.20	gold quality
right frontal lobe	UBERON:0002810	79.11	gold quality
primary visual cortex	UBERON:0002436	78.87	gold quality

Single-cell (SCXA)

Detected in 8 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-9841	yes	2522.93
E-CURD-114	yes	2305.93
E-MTAB-10855	yes	1520.10
E-GEOD-137537	yes	6.62
E-ENAD-27	yes	6.11
E-MTAB-6379	no	2394.03
E-GEOD-100618	no	1115.27
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Exome Sequencing Identifies Abnormalities in Glycosylation and ANKRD36C in Patients with Immune-Mediated Thrombotic Thrombocytopenic Purpura. (PMID:33184803)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
drosophila_melanogaster	pain	FBGN0060296

Paralogs (3): ANKRD36 (ENSG00000135976), ANKRD31 (ENSG00000145700), ANKRD36B (ENSG00000196912)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 36C — Q5JPF3 (reviewed: Q5JPF3)

Alternative names: Protein immuno-reactive with anti-PTH polyclonal antibodies

All UniProt accessions (6): Q5JPF3, A0A087WYV7, A0A0C4DH05, A0A8J8YUB5, E9PJI0, H0YDI7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the ANKRD36 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5JPF3-1	1	yes
Q5JPF3-2	2
Q5JPF3-3	3

RefSeq proteins (2): NP_001297083, NP_001380911* (*=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: PF00023, PF12796, PF13637, PF14915

UniProt features (39 total): compositionally biased region 14, repeat 5, region of interest 5, coiled-coil region 4, splice variant 4, sequence conflict 4, modified residue 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5JPF3-F1	52.44	0.08

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): 829, 897

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 43 (showing top): ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_DN, chr2q11, WHITFIELD_CELL_CYCLE_S, LU_EZH2_TARGETS_DN, SKIL_TARGET_GENES, ZNF423_TARGET_GENES, ZNF528_TARGET_GENES, MIR7_5P, MIR10523_5P, MIR190B_3P, MIR6873_5P, MIR5094, MIR592, ZHENG_CORD_BLOOD_C7_PUTATIVE_LYMPHOID_PRIMED_MULTIPOTENT_PROGENITOR_1

GO Biological Process (0):

GO Molecular Function (2): ion channel inhibitor activity (GO:0008200), protein binding (GO:0005515)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
monoatomic ion channel activity	1
channel inhibitor activity	1
transmembrane transporter binding	1
ion channel regulator activity	1
binding	1

Protein interactions and networks

STRING

1196 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD36C	FAHD2B	Q6P2I3	512
ANKRD36C	FAM178B	Q8IXR5	480
ANKRD36C	ZNF717	Q9BY31	480
ANKRD36C	VCF2	Q5XKR9	471
ANKRD36C	A0A3B3IRQ3	A0A3B3IRQ3	447
ANKRD36C	FRG2C	A6NGY1	440
ANKRD36C	ITPRIPL1	Q6GPH6	403
ANKRD36C	PRAMEF4	O60810	395
ANKRD36C	OR2T29	Q8NH02	377
ANKRD36C	SLC35G6	P0C7Q6	375
ANKRD36C	OR11H4	Q8NGC9	372
ANKRD36C	KRTAP4-8	Q9BYQ9	371
ANKRD36C	FRG1	Q14331	370
ANKRD36C	OR2T4	Q8NH00	370
ANKRD36C	Q8N1N5	Q8N1N5	368

IntAct

5 interactions, top by confidence:

A	B	Type	Score
ATG16L1		psi-mi:“MI:0914”(association)	0.350
ANKRD36B	CCDC66	psi-mi:“MI:0914”(association)	0.350
ANKRD36C		psi-mi:“MI:0915”(physical association)	0.000
ANKRD36C	aspS	psi-mi:“MI:0915”(physical association)	0.000

ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0J9YY54, A0A0U1RQI7, A6NJ88, A6QL64, B4DH59, D3ZVV1, E9Q6E9, F1LWT0, O04492, O88799, P0DKJ7, P0DKJ8, P0DKL2, P0DPF3, P18583, P53353, Q08AG5, Q0P6D6, Q2EG98, Q3BBV2, Q4ZJZ1, Q5HY64, Q5JPF3, Q5QGU6, Q5TAG4, Q5TI25, Q5XHX6, Q6P3W6, Q6P902, Q6XPR3, Q6ZQX7, Q86T75, Q86VE3, Q86VQ3, Q8N2N9, Q8N660, Q8N693, Q96EQ9

Diamond homologs: A0A0A6YYL3, A0JP26, A0PJZ0, A2A2Z9, A2RUR9, A5A3E0, A6NC57, A6NI47, A7E2S9, B2RU33, H3BUK9, P0CG38, P0CG39, Q3MJ40, Q4R3S3, Q4UJ75, Q5CZ79, Q5JPF3, Q5SQ80, Q5TYW2, Q5VUR7, Q6NSI1, Q6S545, Q6S5H5, Q6S8J3, Q6S8J7, Q811D2, Q86YR6, Q8IYA2, Q92527, Q9BXX2, Q9BXX3, Q9D504, Q9H560, Q9UPS8, Q8IVF6, A6QL64, Q6NUI1, Q8N2N9, Q8NF67

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	23
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

10528 predictions. Top by Δscore:

Variant	Effect	Δscore
2:95852095:A:AC	donor_gain	1.0000
2:95853704:CATA:C	donor_gain	1.0000
2:95853707:A:AC	donor_gain	1.0000
2:95853708:C:CC	donor_gain	1.0000
2:95853708:CTTGA:C	donor_gain	1.0000
2:95855261:CTT:C	donor_loss	1.0000
2:95855263:TACTT:T	donor_loss	1.0000
2:95855264:A:AC	donor_gain	1.0000
2:95855264:ACTT:A	donor_gain	1.0000
2:95855265:C:CG	donor_gain	1.0000
2:95855265:CT:C	donor_gain	1.0000
2:95855265:CTT:C	donor_gain	1.0000
2:95855265:CTTC:C	donor_gain	1.0000
2:95855265:CTTCT:C	donor_gain	1.0000
2:95856178:AACC:A	acceptor_loss	1.0000
2:95856179:ACCTA:A	acceptor_loss	1.0000
2:95856180:CCTA:C	acceptor_loss	1.0000
2:95856181:C:CC	acceptor_gain	1.0000
2:95857306:TAC:T	donor_loss	1.0000
2:95857307:ACCT:A	donor_loss	1.0000
2:95876435:ATAC:A	donor_loss	1.0000
2:95876436:TA:T	donor_loss	1.0000
2:95876437:A:T	donor_loss	1.0000
2:95876510:CTG:C	acceptor_gain	1.0000
2:95876513:C:CC	acceptor_gain	1.0000
2:95882371:TAAC:T	acceptor_gain	1.0000
2:95882373:ACC:A	acceptor_loss	1.0000
2:95882374:CCT:C	acceptor_loss	1.0000
2:95882375:C:CC	acceptor_gain	1.0000
2:95882375:CTG:C	acceptor_loss	1.0000

AlphaMissense

4039 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:95882366:A:C	F1101L	0.675
2:95882366:A:T	F1101L	0.675
2:95882368:A:G	F1101L	0.675
2:95912290:A:C	F869L	0.650
2:95912290:A:T	F869L	0.650
2:95912292:A:G	F869L	0.650
2:95882328:A:G	I1114T	0.636
2:95860062:A:G	L1232P	0.608
2:95925416:A:C	F659L	0.605
2:95925416:A:T	F659L	0.605
2:95925418:A:G	F659L	0.605
2:95935479:C:A	R570S	0.600
2:95935479:C:G	R570S	0.600
2:95887989:A:C	S999R	0.566
2:95887989:A:T	S999R	0.566
2:95887991:T:G	S999R	0.566

dbSNP variants (sampled 300 via entrez): RS1000005662 (2:95859034 G>A), RS1000040965 (2:95849508 G>C), RS1000108293 (2:95950066 G>A,T), RS1000141103 (2:95858701 T>A), RS1000218684 (2:95957193 A>C,G), RS1000219342 (2:95913215 A>C,T), RS1000276706 (2:95964402 C>T), RS1000292136 (2:95866644 C>T), RS1000348565 (2:95873654 C>T), RS1000370178 (2:95964242 C>T), RS1000380383 (2:95916984 T>G), RS1000392215 (2:95849749 C>T), RS1000407255 (2:95909078 C>A,G), RS1000422145 (2:95873356 C>G), RS1000447618 (2:95970653 T>A,C,G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (1): CIC-rearranged sarcoma (MONDO:0956989)

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST007269_73	Pulse pressure	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression, affects cotreatment	2
aristolochic acid I	decreases expression	1
bisphenol F	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
bisphenol S	decreases expression, affects cotreatment	1
Arsenic	increases abundance, decreases expression	1
Cadmium	increases abundance, increases expression	1
Cytarabine	increases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Diuron	decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Cadmium Chloride	increases abundance, increases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT02389244	PHASE2	ACTIVE_NOT_RECRUITING	A Phase II Study Evaluating Efficacy and Safety of Regorafenib in Patients With Metastatic Bone Sarcomas
NCT06414434	PHASE1	ACTIVE_NOT_RECRUITING	BTX-A51 in Patients With Liposarcoma or CIC-rearranged Sarcoma
NCT06820957	PHASE2/PHASE3	ACTIVE_NOT_RECRUITING	Testing a New Combination of Anti-cancer Drugs in Patients Newly Diagnosed With Ewing Sarcoma Who Have Cancer That Has Spread to Other Parts of the Body