ANKRD23

Summary

ANKRD23 (ankyrin repeat domain 23, HGNC:24470) is a protein-coding gene on chromosome 2q11.2, encoding Ankyrin repeat domain-containing protein 23 (Q86SG2). May be involved in the energy metabolism.

This gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin-like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation.

Source: NCBI Gene 200539 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 69 total
• MANE Select transcript: NM_144994

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24470
Approved symbol	ANKRD23
Name	ankyrin repeat domain 23
Location	2q11.2
Locus type	gene with protein product
Status	Approved
Aliases	DARP, FLJ32449, MARP3
Ensembl gene	ENSG00000163126
Ensembl biotype	protein_coding
OMIM	610736
Entrez	200539

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 10 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000318357, ENST00000331001, ENST00000418232, ENST00000462692, ENST00000476975, ENST00000482175, ENST00000870651, ENST00000962363, ENST00000962364, ENST00000962365, ENST00000962366, ENST00000962367, ENST00000962368, ENST00000962369

RefSeq mRNA: 1 — MANE Select: NM_144994 NM_144994

CCDS: CCDS2027

Canonical transcript exons

ENST00000318357 — 9 exons

Exon	Start	End
ENSE00001277930	96839727	96839825
ENSE00001945987	96837912	96839644
ENSE00002094282	96843966	96844021
ENSE00003482710	96840232	96840330
ENSE00003500564	96839997	96840095
ENSE00003554474	96842365	96842511
ENSE00003563866	96840787	96840912
ENSE00003636721	96842060	96842185
ENSE00003658373	96840416	96840514

Expression profiles

Bgee: expression breadth ubiquitous, 195 present calls, max score 99.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0084 / max 252.5232, expressed in 1394 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
29773	2.9834	1330
29770	0.5054	27
29772	0.4361	248
29769	0.0711	13
29771	0.0123	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	99.50	gold quality
gastrocnemius	UBERON:0001388	99.39	gold quality
muscle of leg	UBERON:0001383	98.58	gold quality
sural nerve	UBERON:0015488	95.16	gold quality
tibialis anterior	UBERON:0001385	92.58	gold quality
skeletal muscle tissue	UBERON:0001134	91.74	gold quality
quadriceps femoris	UBERON:0001377	91.09	gold quality
vastus lateralis	UBERON:0001379	90.85	gold quality
right uterine tube	UBERON:0001302	89.29	gold quality
apex of heart	UBERON:0002098	88.68	gold quality
muscle tissue	UBERON:0002385	88.39	gold quality
biceps brachii	UBERON:0001507	87.79	gold quality
deltoid	UBERON:0001476	87.74	silver quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.35	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.92	gold quality
right atrium auricular region	UBERON:0006631	85.56	gold quality
cardiac atrium	UBERON:0002081	84.62	gold quality
cerebellar hemisphere	UBERON:0002245	83.53	gold quality
cerebellar cortex	UBERON:0002129	83.41	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.30	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	82.99	gold quality
pituitary gland	UBERON:0000007	82.59	gold quality
adenohypophysis	UBERON:0002196	82.49	gold quality
cerebellum	UBERON:0002037	82.40	gold quality
body of uterus	UBERON:0009853	80.74	gold quality
left ovary	UBERON:0002119	80.13	gold quality
right ovary	UBERON:0002118	80.02	gold quality
kidney epithelium	UBERON:0004819	79.92	gold quality
left uterine tube	UBERON:0001303	79.84	gold quality
granulocyte	CL:0000094	79.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.32

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

61 targeting ANKRD23, 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-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-4481	100.00	66.42	1669
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-199A-5P	99.51	69.71	1107
HSA-MIR-199B-5P	99.51	69.74	1098
HSA-MIR-766-3P	99.47	65.24	1811
HSA-MIR-103A-1-5P	99.39	67.78	1545
HSA-MIR-103A-2-5P	99.39	67.72	1577
HSA-MIR-4777-5P	99.33	67.53	1148

Literature-anchored findings (GeneRIF, showing 2)

• Report structure activity relationships for ANKRD23. (PMID:25125175)
• The promise of DARPin-siRNA bioconjugates for tumor targeting. (PMID:31103742)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Ankrd23	ENSMUSG00000067653
rattus_norvegicus	Ankrd23	ENSRNOG00000016151

Protein

Protein identifiers

Ankyrin repeat domain-containing protein 23 — Q86SG2 (reviewed: Q86SG2)

Alternative names: Diabetes-related ankyrin repeat protein, Muscle ankyrin repeat protein 3

All UniProt accessions (1): Q86SG2

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in the energy metabolism. Could be a molecular link between myofibrillar stretch-induced signaling pathways and muscle gene expression.

Subunit / interactions. Interacts with titin/TTN and MYPN.

Subcellular location. Nucleus.

Tissue specificity. Mainly expressed in heart, skeletal muscle and brown adipose tissues.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86SG2-1	1	yes
Q86SG2-2	2

RefSeq proteins (1): NP_659431* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002110	Ankyrin_rpt	Repeat
IPR036770	Ankyrin_rpt-contain_sf	Homologous_superfamily
IPR050663	Ankyrin-SOCS_Box	Family

Pfam: PF00023, PF12796

UniProt features (12 total): repeat 4, sequence conflict 2, region of interest 2, chain 1, coiled-coil region 1, compositionally biased region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86SG2-F1	81.08	0.59

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 85 (showing top): GOBP_RESPONSE_TO_MUSCLE_STRETCH, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_SARCOMERE_ORGANIZATION, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, TGCTGAY_UNKNOWN, GOBP_ACTOMYOSIN_STRUCTURE_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOCC_CELL_CELL_JUNCTION, GOBP_REGULATION_OF_CYTOSKELETON_ORGANIZATION

GO Biological Process (5): fatty acid metabolic process (GO:0006631), response to muscle stretch (GO:0035994), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of sarcomere organization (GO:0060297), response to mechanical stimulus (GO:0009612)

GO Molecular Function (3): transcription cis-regulatory region binding (GO:0000976), titin binding (GO:0031432), protein binding (GO:0005515)

GO Cellular Component (8): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), intercalated disc (GO:0014704), actin cytoskeleton (GO:0015629), I band (GO:0031674), cytoplasm (GO:0005737), myofibril (GO:0030016)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
lipid metabolic process	1
monocarboxylic acid metabolic process	1
response to mechanical stimulus	1
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
positive regulation of DNA-templated transcription	1
sarcomere organization	1
regulation of actomyosin structure organization	1
regulation of supramolecular fiber organization	1
response to external stimulus	1
response to abiotic stimulus	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cytoskeletal protein binding	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoplasm	1
cell-cell contact zone	1
cytoskeleton	1
sarcomere	1
intracellular anatomical structure	1
contractile muscle fiber	1

Protein interactions and networks

STRING

1278 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ANKRD23	TTN	Q8WZ42	869
ANKRD23	MYPN	Q86TC9	701
ANKRD23	CAPN3	P20807	626
ANKRD23	MYBPC2	Q14324	604
ANKRD23	MYBPC3	Q14896	530
ANKRD23	PPP1R1B	Q9UD71	506
ANKRD23	ACTN3	Q08043	494
ANKRD23	ANKRD2	Q9GZV1	474
ANKRD23	ANKRD1	Q15327	460
ANKRD23	EEIG2	Q5T8I3	457
ANKRD23	RPL3L	Q92901	443
ANKRD23	MYL11	Q96A32	435
ANKRD23	TMEM38A	Q9H6F2	433
ANKRD23	FAHD2B	Q6P2I3	425
ANKRD23	MIOX	Q9UGB7	418

IntAct

71 interactions, top by confidence:

A	B	Type	Score
PIBF1	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
FAM161B	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
CTNNA3	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
CCDC6	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
KDM1A	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
CCDC102B	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
IQUB	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
TRIM41	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	ENKD1	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	FAM161B	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	CTNNA3	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	IQUB	psi-mi:“MI:0915”(physical association)	0.560
SMARCD1	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	HOOK1	psi-mi:“MI:0915”(physical association)	0.560
GRB2	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	MIPOL1	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	POLR3C	psi-mi:“MI:0915”(physical association)	0.560
CLIC3	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	KIFC3	psi-mi:“MI:0915”(physical association)	0.560
ANKRD23	CDCA7L	psi-mi:“MI:0915”(physical association)	0.560
CCDC57	ANKRD23	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (23): ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Reconstituted Complex), TTN (Two-hybrid), ANKRD23 (Reconstituted Complex), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), ANKRD23 (Two-hybrid), CDCA7L (Two-hybrid)

ESM2 similar proteins: A0A2R8Y7D0, A1L020, A2ARS0, A6NDN8, G1T8A2, O70418, O75426, P29473, P29597, P49897, P49898, P52824, P55073, P62861, P62862, P70313, P79209, Q08097, Q08DF2, Q148R9, Q1LZC5, Q28969, Q39491, Q4R327, Q566C8, Q5SPX3, Q62600, Q6DN07, Q6H5L4, Q6N063, Q6NXT1, Q6QN11, Q6ZS82, Q758T2, Q7L9B9, Q86SG2, Q8C2K5, Q8MJG0, Q8N8A6, Q8TD08

Diamond homologs: Q15327, Q3ZBX7, Q4KL97, Q5BKI6, Q7ZT11, Q812A3, Q865U8, Q86SG2, Q8R560, Q9CR42, Q9GZV1, Q9TU71, Q9WV06

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2903 predictions. Top by Δscore:

Variant	Effect	Δscore
2:96825053:CACA:C	acceptor_loss	1.0000
2:96825054:ACAG:A	acceptor_gain	1.0000
2:96825055:CA:C	acceptor_loss	1.0000
2:96825056:A:AG	acceptor_gain	1.0000
2:96825056:AG:A	acceptor_gain	1.0000
2:96825056:AGG:A	acceptor_gain	1.0000
2:96825057:G:A	acceptor_loss	1.0000
2:96825057:G:GA	acceptor_gain	1.0000
2:96825057:GG:G	acceptor_gain	1.0000
2:96825057:GGG:G	acceptor_gain	1.0000
2:96825057:GGGA:G	acceptor_gain	1.0000
2:96825057:GGGAA:G	acceptor_gain	1.0000
2:96825197:CTACC:C	donor_gain	1.0000
2:96825198:TACC:T	donor_gain	1.0000
2:96825199:ACC:A	donor_gain	1.0000
2:96825200:CC:C	donor_gain	1.0000
2:96825202:G:GG	donor_gain	1.0000
2:96826826:A:AG	acceptor_gain	1.0000
2:96826827:T:G	acceptor_gain	1.0000
2:96826830:TAG:T	acceptor_loss	1.0000
2:96826831:A:AG	acceptor_gain	1.0000
2:96826831:AG:A	acceptor_gain	1.0000
2:96826832:G:A	acceptor_loss	1.0000
2:96826832:G:GG	acceptor_gain	1.0000
2:96826832:GG:G	acceptor_gain	1.0000
2:96826832:GGA:G	acceptor_gain	1.0000
2:96826832:GGAGA:G	acceptor_gain	1.0000
2:96826931:G:GG	donor_gain	1.0000
2:96826979:CGAG:C	donor_loss	1.0000
2:96826982:GGTGA:G	donor_loss	1.0000

AlphaMissense

1970 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:96840485:A:C	C152W	0.996
2:96840486:C:T	C152Y	0.993
2:96840487:A:G	C152R	0.992
2:96840236:T:A	D207V	0.991
2:96840237:C:G	D207H	0.990
2:96840301:G:C	C185W	0.990
2:96839801:C:G	A250P	0.989
2:96840303:A:G	C185R	0.988
2:96840453:A:G	L163P	0.986
2:96840302:C:T	C185Y	0.985
2:96840420:T:A	D174V	0.985
2:96840421:C:G	D174H	0.985
2:96840236:T:G	D207A	0.984
2:96840269:A:G	L196P	0.984
2:96840034:A:G	L229P	0.983
2:96840237:C:A	D207Y	0.982
2:96840420:T:G	D174A	0.981
2:96840791:T:A	D141V	0.981
2:96840070:G:T	A217E	0.980
2:96840317:G:T	P180H	0.980
2:96840507:C:G	R145P	0.980
2:96840082:G:T	P213H	0.978
2:96840310:G:C	F182L	0.978
2:96840310:G:T	F182L	0.978
2:96840312:A:G	F182L	0.978
2:96839764:A:G	L262P	0.974
2:96840501:G:T	A147D	0.974
2:96840071:C:G	A217P	0.973
2:96840235:G:C	D207E	0.972
2:96840235:G:T	D207E	0.972

dbSNP variants (sampled 300 via entrez): RS1000254778 (2:96839130 C>G), RS1000379992 (2:96844262 C>T), RS1001332794 (2:96843617 G>A), RS1001366357 (2:96838432 C>G), RS1001439853 (2:96838674 C>T), RS1002170787 (2:96838115 A>G), RS1002223016 (2:96845178 T>A), RS1002369204 (2:96839373 CTT>C,CTTTT), RS1002618897 (2:96839370 T>C,G), RS1002689973 (2:96838475 G>A,C), RS1002722709 (2:96844760 CGTCAG>C), RS1002825100 (2:96844715 G>A), RS1002914501 (2:96839264 C>A,T), RS1003089042 (2:96837492 A>G), RS1004007335 (2:96845954 T>C)

Disease associations

OMIM: gene MIM:610736 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008103_13	Bipolar disorder	4.000000e-09

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
sodium arsenite	decreases expression	1
ferrous chloride	decreases expression	1
Arbutin	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	increases methylation	1
Acrylamide	decreases expression	1
S-Nitrosoglutathione	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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