ANKRD23 ankyrin repeat domain 23 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD23provided by HGNC
Official Full Name: ankyrin repeat domain 23provided by HGNC
Primary source: HGNC:HGNC:24470
See related: Ensembl:ENSG00000163126 MIM:610736; AllianceGenome:HGNC:24470
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DARP; MARP3
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 induced during recovery following starvation. [provided by RefSeq, Jul 2008]
Expression: Broad expression in prostate (RPKM 8.9), esophagus (RPKM 4.7) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (96837912..96844021, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (97344544..97350653, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (97503649..97509758, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The promise of DARPin-siRNA bioconjugates for tumor targeting.
Title: Targeted delivery and endosomal cellular uptake of DARPin-siRNA bioconjugates: Influence of linker stability on gene silencing.
Report structure activity relationships for ANKRD23.
Title: Probing muscle ankyrin-repeat protein (MARP) structure and function.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-56804 (e-PCR)
- UniSTS:19975

NoName (e-PCR)
- UniSTS:484120

RH46431 (e-PCR)
- UniSTS:67985

RH41816 (e-PCR)
- UniSTS:26566

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables titin binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in fatty acid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of sarcomere organization	IEA Inferred from Electronic Annotation more info
involved_in response to muscle stretch	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in I band	IEA Inferred from Electronic Annotation more info
located_in actin cytoskeleton	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in intercalated disc	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: ankyrin repeat domain-containing protein 23

Names: diabetes related ankyrin repeat protein; muscle ankyrin repeat protein 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_144994.8 → NP_659431.5 ankyrin repeat domain-containing protein 23

See identical proteins and their annotated locations for NP_659431.5

Status: REVIEWED

Source sequence(s)

AC092636, AK092564, AY196212, BC107056, BF827606

Consensus CDS

CCDS2027.1

UniProtKB/Swiss-Prot

Q711K7, Q86SG2, Q8NAJ7

Related

ENSP00000321679.4, ENST00000318357.9

Conserved Domains (3) summary

cd00204
Location:138 → 263

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

sd00045
Location:178 → 207

ANK; ANK repeat [structural motif]

cl27857
Location:225 → 303

PHA02917; ankyrin-like protein; Provisional