Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	200539
Gene name	Ankyrin repeat domain 23
Gene symbol	ANKRD23
Synonyms (NCBI Gene)	DARPMARP3
Chromosome	2
Chromosome location	2q11.2
Summary	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 induce

114

Show/Hide all (114)

miRTarBase ID	miRNA	Experiments	Reference
MIRT509717	hsa-miR-6753-5p	PAR-CLIP	23446348
MIRT509716	hsa-miR-6502-3p	PAR-CLIP	23446348
MIRT509715	hsa-miR-6510-5p	PAR-CLIP	23446348
MIRT509714	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT509713	hsa-miR-4270	PAR-CLIP	23446348
MIRT509712	hsa-miR-4441	PAR-CLIP	23446348
MIRT509710	hsa-miR-6754-5p	PAR-CLIP	23446348
MIRT509711	hsa-miR-7113-5p	PAR-CLIP	23446348
MIRT509709	hsa-miR-6081	PAR-CLIP	23446348
MIRT509708	hsa-miR-3684	PAR-CLIP	23446348
MIRT509707	hsa-miR-4640-5p	PAR-CLIP	23446348
MIRT509717	hsa-miR-6753-5p	PAR-CLIP	23446348
MIRT509716	hsa-miR-6502-3p	PAR-CLIP	23446348
MIRT509715	hsa-miR-6510-5p	PAR-CLIP	23446348
MIRT509714	hsa-miR-4733-3p	PAR-CLIP	23446348
MIRT509713	hsa-miR-4270	PAR-CLIP	23446348
MIRT509712	hsa-miR-4441	PAR-CLIP	23446348
MIRT509710	hsa-miR-6754-5p	PAR-CLIP	23446348
MIRT509711	hsa-miR-7113-5p	PAR-CLIP	23446348
MIRT509709	hsa-miR-6081	PAR-CLIP	23446348
MIRT509708	hsa-miR-3684	PAR-CLIP	23446348
MIRT509707	hsa-miR-4640-5p	PAR-CLIP	23446348
MIRT783197	hsa-miR-1226	CLIP-seq
MIRT783198	hsa-miR-1273g	CLIP-seq
MIRT783199	hsa-miR-129-3p	CLIP-seq
MIRT783200	hsa-miR-1296	CLIP-seq
MIRT783201	hsa-miR-1321	CLIP-seq
MIRT783202	hsa-miR-1538	CLIP-seq
MIRT783203	hsa-miR-1972	CLIP-seq
MIRT783204	hsa-miR-2909	CLIP-seq
MIRT783205	hsa-miR-296-5p	CLIP-seq
MIRT783206	hsa-miR-3150b-3p	CLIP-seq
MIRT783207	hsa-miR-3152-5p	CLIP-seq
MIRT783208	hsa-miR-3157-5p	CLIP-seq
MIRT783209	hsa-miR-3158-5p	CLIP-seq
MIRT783210	hsa-miR-3166	CLIP-seq
MIRT783211	hsa-miR-3202	CLIP-seq
MIRT783212	hsa-miR-370	CLIP-seq
MIRT783213	hsa-miR-3909	CLIP-seq
MIRT783214	hsa-miR-3914	CLIP-seq
MIRT783215	hsa-miR-3928	CLIP-seq
MIRT783216	hsa-miR-412	CLIP-seq
MIRT783217	hsa-miR-4264	CLIP-seq
MIRT783218	hsa-miR-4310	CLIP-seq
MIRT783219	hsa-miR-4328	CLIP-seq
MIRT783220	hsa-miR-4419a	CLIP-seq
MIRT783221	hsa-miR-4436b-3p	CLIP-seq
MIRT783222	hsa-miR-4446-3p	CLIP-seq
MIRT783223	hsa-miR-4510	CLIP-seq
MIRT783224	hsa-miR-4656	CLIP-seq
MIRT783225	hsa-miR-4685-5p	CLIP-seq
MIRT783226	hsa-miR-4689	CLIP-seq
MIRT783227	hsa-miR-4690-3p	CLIP-seq
MIRT783228	hsa-miR-4731-5p	CLIP-seq
MIRT783229	hsa-miR-4739	CLIP-seq
MIRT783230	hsa-miR-4745-3p	CLIP-seq
MIRT783231	hsa-miR-4747-5p	CLIP-seq
MIRT783232	hsa-miR-4753-3p	CLIP-seq
MIRT783233	hsa-miR-4756-5p	CLIP-seq
MIRT783234	hsa-miR-4761-3p	CLIP-seq
MIRT783235	hsa-miR-4763-5p	CLIP-seq
MIRT783236	hsa-miR-4771	CLIP-seq
MIRT783237	hsa-miR-4774-3p	CLIP-seq
MIRT783238	hsa-miR-4777-5p	CLIP-seq
MIRT783239	hsa-miR-4783-3p	CLIP-seq
MIRT783240	hsa-miR-4784	CLIP-seq
MIRT783241	hsa-miR-4797-3p	CLIP-seq
MIRT783242	hsa-miR-511	CLIP-seq
MIRT783243	hsa-miR-518d-5p	CLIP-seq
MIRT783244	hsa-miR-519b-5p	CLIP-seq
MIRT783245	hsa-miR-519c-5p	CLIP-seq
MIRT783246	hsa-miR-520c-5p	CLIP-seq
MIRT783247	hsa-miR-526a	CLIP-seq
MIRT783248	hsa-miR-642a	CLIP-seq
MIRT1931083	hsa-miR-4292	CLIP-seq
MIRT783221	hsa-miR-4436b-3p	CLIP-seq
MIRT783222	hsa-miR-4446-3p	CLIP-seq
MIRT1931084	hsa-miR-4649-3p	CLIP-seq
MIRT783228	hsa-miR-4731-5p	CLIP-seq
MIRT2171698	hsa-miR-1245b-3p	CLIP-seq
MIRT2171699	hsa-miR-1267	CLIP-seq
MIRT2171700	hsa-miR-3650	CLIP-seq
MIRT783214	hsa-miR-3914	CLIP-seq
MIRT2171701	hsa-miR-3919	CLIP-seq
MIRT2171702	hsa-miR-4268	CLIP-seq
MIRT2171703	hsa-miR-4302	CLIP-seq
MIRT2171704	hsa-miR-4330	CLIP-seq
MIRT2171705	hsa-miR-4420	CLIP-seq
MIRT2171706	hsa-miR-4712-5p	CLIP-seq
MIRT2171707	hsa-miR-4726-5p	CLIP-seq
MIRT2171708	hsa-miR-4755-3p	CLIP-seq
MIRT2171709	hsa-miR-668	CLIP-seq
MIRT2171710	hsa-miR-744	CLIP-seq
MIRT2171711	hsa-miR-770-5p	CLIP-seq
MIRT2384194	hsa-miR-1908	CLIP-seq
MIRT2384195	hsa-miR-3180	CLIP-seq
MIRT2384196	hsa-miR-3180-3p	CLIP-seq
MIRT2384197	hsa-miR-3196	CLIP-seq
MIRT2384198	hsa-miR-4283	CLIP-seq
MIRT2384199	hsa-miR-4284	CLIP-seq
MIRT2384200	hsa-miR-4437	CLIP-seq
MIRT2384201	hsa-miR-4488	CLIP-seq
MIRT2384202	hsa-miR-4697-5p	CLIP-seq
MIRT2384203	hsa-miR-663	CLIP-seq
MIRT2474750	hsa-miR-1193	CLIP-seq
MIRT2474751	hsa-miR-3690	CLIP-seq
MIRT2474752	hsa-miR-4254	CLIP-seq
MIRT2474753	hsa-miR-4642	CLIP-seq
MIRT2474754	hsa-miR-4793-5p	CLIP-seq
MIRT2474750	hsa-miR-1193	CLIP-seq
MIRT2474751	hsa-miR-3690	CLIP-seq
MIRT2474752	hsa-miR-4254	CLIP-seq
MIRT2474753	hsa-miR-4642	CLIP-seq
MIRT2474754	hsa-miR-4793-5p	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000976	Function	Transcription cis-regulatory region binding	IBA
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0014704	Component	Intercalated disc	IEA
GO:0015629	Component	Actin cytoskeleton	IDA
GO:0030016	Component	Myofibril	IEA
GO:0031432	Function	Titin binding	IPI	14583192
GO:0031674	Component	I band	IEA
GO:0035994	Process	Response to muscle stretch	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0060297	Process	Regulation of sarcomere organization	IEA

MIM	HGNC	e!Ensembl
610736	24470	ENSG00000163126

Q86SG2

Protein name

Ankyrin repeat domain-containing protein 23 (Diabetes-related ankyrin repeat protein) (Muscle ankyrin repeat protein 3)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	114 → 207	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	155 → 240	Ankyrin repeats (3 copies)	Repeat
PF12796	Ank_2	208 → 273	Ankyrin repeats (3 copies)	Repeat

Tissue specificity

TISSUE SPECIFICITY: Mainly expressed in heart, skeletal muscle and brown adipose tissues. {ECO:0000269|PubMed:12456686}.

Sequence

MDFISIQQLVSGERVEGKVLGFGHGVPDPGAWPSDWRRGPQEAVAREKLKLEEEKKKKLE
RFNSTRFNLDNLADLENLVQRRKKRLRHRVPPRKPEPLVKPQSQAQVEPVGLEMFLKAAA
ENQEYLIDKYLTDGGDPNAHDKLHRTALHWACLKGHSQLVNKLLVAGATVDARDLLDRTP
VFWACRGGHLVILKQLLNQGARVNARDKIGSTPLHVAVRTRHPDCLEHLIECGAHLNAQD
KEGDTALHEAVRHGSYKAMKLLLLYGAELGVRNAASVTPVQLARDWQRGIREALQAHVAH
PRTRC

Sequence length

305

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ANKRD23 (ankyrin repeat domain 23)