ANKRD63

Summary

ANKRD63 (ankyrin repeat domain 63, HGNC:40027) is a protein-coding gene on chromosome 15q15.1, encoding Ankyrin repeat domain-containing protein 63 (C9JTQ0).

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_001190479

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:40027
Approved symbol	ANKRD63
Name	ankyrin repeat domain 63
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000230778
Ensembl biotype	protein_coding
OMIM	621291
Entrez	100131244

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000434396

RefSeq mRNA: 1 — MANE Select: NM_001190479 NM_001190479

CCDS: CCDS53929

Canonical transcript exons

ENST00000434396 — 1 exons

Exon	Start	End
ENSE00001643682	40278372	40283064

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 68.32.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2965 / max 27.8555, expressed in 118 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149480	0.2965	118

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nucleus accumbens	UBERON:0001882	68.32	gold quality
putamen	UBERON:0001874	60.96	gold quality
caudate nucleus	UBERON:0001873	60.31	gold quality
superior frontal gyrus	UBERON:0002661	52.20	gold quality
right atrium auricular region	UBERON:0006631	46.42	gold quality
Brodmann (1909) area 9	UBERON:0013540	46.01	gold quality
anterior cingulate cortex	UBERON:0009835	44.56	gold quality
temporal lobe	UBERON:0001871	43.56	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	43.50	gold quality
amygdala	UBERON:0001876	43.26	gold quality
brain	UBERON:0000955	42.90	gold quality
right uterine tube	UBERON:0001302	42.45	silver quality
cerebral cortex	UBERON:0000956	41.92	gold quality
frontal cortex	UBERON:0001870	41.91	gold quality
granulocyte	CL:0000094	41.69	silver quality
colonic epithelium	UBERON:0000397	41.32	gold quality
prefrontal cortex	UBERON:0000451	41.30	gold quality
right frontal lobe	UBERON:0002810	41.10	gold quality
cortical plate	UBERON:0005343	41.04	silver quality
ventricular zone	UBERON:0003053	40.36	silver quality
left uterine tube	UBERON:0001303	40.21	gold quality
apex of heart	UBERON:0002098	40.15	silver quality
bone marrow cell	CL:0002092	38.06	gold quality
hypothalamus	UBERON:0001898	37.18	gold quality
Ammon’s horn	UBERON:0001954	36.92	gold quality
fallopian tube	UBERON:0003889	36.65	silver quality
heart	UBERON:0000948	36.04	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
adult mammalian kidney	UBERON:0000082	35.21	gold quality
skeletal muscle tissue	UBERON:0001134	34.74	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

114 targeting ANKRD63, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-26A-5P	99.78	73.52	2303
HSA-MIR-26B-5P	99.78	73.51	2305

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd63	ENSMUSG00000078137
rattus_norvegicus	Ankrd63	ENSRNOG00000062526

Paralogs (4): CTTNBP2 (ENSG00000077063), TANC1 (ENSG00000115183), TANC2 (ENSG00000170921), ANKRD65 (ENSG00000235098)

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 63 — C9JTQ0 (reviewed: C9JTQ0)

All UniProt accessions (1): C9JTQ0

RefSeq proteins (1): NP_001177408* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050889	Dendritic_Spine_Reg/Scaffold	Family

Pfam: PF12796

UniProt features (12 total): repeat 5, modified residue 2, region of interest 2, compositionally biased region 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-C9JTQ0-F1	61.92	0.06

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): 193, 294

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 47 (showing top): MEISSNER_BRAIN_HCP_WITH_H3K4ME3_AND_H3K27ME3, MEISSNER_NPC_HCP_WITH_H3K4ME2_AND_H3K27ME3, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, MIKKELSEN_NPC_HCP_WITH_H3K27ME3, FOXD2_TARGET_GENES, ID1_TARGET_GENES, NCOA6_TARGET_GENES, TAFAZZIN_TARGET_GENES, ZNF610_TARGET_GENES, ZSCAN30_TARGET_GENES, MIR1468_3P, MIR548P, MIR1297, MIR10527_5P, MIR4728_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

698 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD63	LSM12	Q3MHD2	464
ANKRD63	M9MMK7	M9MMK7	448
ANKRD63	SNX31	Q8N9S9	428
ANKRD63	MS4A3	Q96HJ5	385
ANKRD63	UNCX	A6NJT0	376
ANKRD63	PAIP2	Q9BPZ3	371
ANKRD63	A0A2R8YEI5	A0A2R8YEI5	368
ANKRD63	CRISPLD2	Q9H0B8	357
ANKRD63	OMP	P47874	353
ANKRD63	TNNC2	P02585	343
ANKRD63	DIPK1C	Q0P6D2	336
ANKRD63	CHN2	P52757	323
ANKRD63	GSTA3	Q16772	305
ANKRD63	VPS29	Q9UBQ0	300
ANKRD63	AUP1	Q9Y679	295

IntAct

0 interactions, top by confidence:

BioGRID (1): MYCBP2 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A140LIT1, A0A1B0GVG4, A0A494C0Y3, A0JNH6, A0JNN8, A1A5D9, A2ARS0, A5A769, A5PJP1, A6NC98, A7YWC8, C9JTQ0, O15049, O35764, O95502, P0C7N4, P0DPE3, P58660, Q0P5D1, Q1HCM0, Q2TAC2, Q3LUD3, Q3LUD4, Q3TMW1, Q3UMT1, Q4QRL3, Q5BLP8, Q5JTB6, Q6QNY0, Q6QZQ4, Q8BP01, Q8C7U1, Q8CHW5, Q8K262, Q8N283, Q8N6Y0, Q8TAT2, Q8TER5, Q8TF21, Q91XV7

Diamond homologs: A0M8T3, A1X154, A4D7T3, C9JTQ0, Q00PJ3, Q05823, Q05921, Q07DV3, Q07DX6, Q07DY6, Q07DZ7, Q07E17, Q07E30, Q07E43, Q09YH1, Q09YI3, Q09YJ5, Q09YK6, Q09YN0, Q108U1, Q2IBB1, Q2IBB4, Q2IBE3, Q2IBF5, Q2IBG0, Q2QL84, Q2QLA4, Q2QLB5, Q2QLC6, Q2QLG0, Q2QLH1, Q5E9N5, Q8IWZ3, Q8VD46, Q8WMX6, Q8WMX7, Q8WMX8, Q8WWH4, Q9FY48, Q9H078

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

94 predictions. Top by Δscore:

Variant	Effect	Δscore
15:40282222:A:AC	donor_gain	0.7800
15:40282443:ACGGC:A	donor_gain	0.6700
15:40282444:CGGCC:C	donor_gain	0.6700
15:40282273:TG:T	donor_gain	0.5900
15:40282359:TGCAG:T	donor_gain	0.5900
15:40282221:CA:C	donor_gain	0.5700
15:40282447:C:A	donor_gain	0.5300
15:40281507:C:CT	acceptor_gain	0.4700
15:40281508:G:T	acceptor_gain	0.4700
15:40282226:CCGGG:C	donor_gain	0.4300
15:40282427:C:CT	donor_gain	0.4200
15:40282425:GGC:G	donor_gain	0.4100
15:40282227:CGGGC:C	donor_gain	0.3900
15:40282223:TC:T	donor_gain	0.3800
15:40282271:A:C	donor_gain	0.3700
15:40281501:A:T	acceptor_gain	0.3600
15:40282186:TCGAG:T	donor_gain	0.3600
15:40282187:CGAGC:C	donor_gain	0.3600
15:40281500:C:CT	acceptor_gain	0.3500
15:40282428:C:CT	donor_gain	0.3400
15:40282443:ACGG:A	donor_gain	0.3400
15:40282444:CGG:C	donor_gain	0.3400
15:40282444:CGGC:C	donor_gain	0.3400
15:40282180:A:T	donor_gain	0.3300
15:40282224:C:T	donor_gain	0.3300
15:40281700:T:TA	donor_gain	0.3200
15:40281787:T:TA	donor_gain	0.3200
15:40282179:C:CT	donor_gain	0.3200
15:40282265:C:CT	donor_gain	0.3200
15:40282272:CT:C	donor_gain	0.3200

AlphaMissense

2372 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:40282134:G:C	N151K	0.999
15:40282134:G:T	N151K	0.999
15:40282246:T:A	D114V	0.999
15:40282311:G:C	C92W	0.999
15:40282312:C:T	C92Y	0.999
15:40282313:A:G	C92R	0.999
15:40282345:T:A	D81V	0.999
15:40282346:C:G	D81H	0.999
15:40282435:A:T	L51H	0.999
15:40282540:A:G	F16S	0.999
15:40282135:T:A	N151I	0.998
15:40282180:A:G	L136P	0.998
15:40282204:C:A	G128V	0.998
15:40282247:C:A	D114Y	0.998
15:40282247:C:G	D114H	0.998
15:40282279:A:G	L103P	0.998
15:40282346:C:A	D81Y	0.998
15:40282375:A:T	L71H	0.998
15:40282426:G:T	A54D	0.998
15:40282497:G:C	F30L	0.998
15:40282497:G:T	F30L	0.998
15:40282499:A:G	F30L	0.998
15:40282069:A:T	L173H	0.997
15:40282105:G:T	A161D	0.997
15:40282108:A:G	L160P	0.997
15:40282182:G:C	F135L	0.997
15:40282182:G:T	F135L	0.997
15:40282183:A:G	F135S	0.997
15:40282184:A:G	F135L	0.997
15:40282189:A:T	L133H	0.997

dbSNP variants (sampled 300 via entrez): RS1000268494 (15:40280331 T>G), RS1000298837 (15:40281749 G>A,C), RS1000322635 (15:40280616 G>C), RS1001063169 (15:40283415 C>G,T), RS1001120302 (15:40277971 C>T), RS1001555486 (15:40281118 C>T), RS1001899981 (15:40280936 AG>A), RS1002122691 (15:40279156 C>G), RS1002304895 (15:40284304 T>A), RS1002469454 (15:40284627 A>C,G,T), RS1002573972 (15:40284119 C>T), RS1003010148 (15:40280229 C>G,T), RS1003145620 (15:40280435 A>C,G,T), RS1003636422 (15:40282032 C>CGCAGCG), RS1004013224 (15:40281293 G>A)

Disease associations

OMIM: gene MIM:621291 | disease phenotypes: MIM:257300

GenCC curated gene-disease

Mondo (1): mosaic variegated aneuploidy syndrome 1 (MONDO:0009759)

Orphanet (1): Mosaic variegated aneuploidy syndrome (Orphanet:1052)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002539_24	Schizophrenia	4.000000e-09
GCST006803_39	Schizophrenia	2.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
titanium dioxide	decreases expression	1
ferrous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
abrine	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	decreases expression	1
Cadmium	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Triclosan	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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