ANKRD2 ankyrin repeat domain 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ANKRD2provided by HGNC
Official Full Name: ankyrin repeat domain 2provided by HGNC
Primary source: HGNC:HGNC:495
See related: Ensembl:ENSG00000165887 MIM:610734; AllianceGenome:HGNC:495
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: ARPP
Summary: This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Expression: Biased expression in heart (RPKM 16.8), kidney (RPKM 3.2) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.2

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (97572441..97583884)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (98452620..98464067)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (99332198..99343641)

Chromosome 10 - NC_000010.11 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
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 results set the stage for investigation of the specific functions and interactions of the Ankrd2 isoforms in healthy and diseased human striated muscles.
Title: Differential expression and localization of Ankrd2 isoforms in human skeletal and cardiac muscles.
The Ankrd2 was found to be expressed in both the cytoplasm and nucleus, independently from maturation status of cardiomyocytes.
Title: Profiling of skeletal muscle Ankrd2 protein in human cardiac tissue and neonatal rat cardiomyocytes.
Report structure activity relationships for ANKRD2.
Title: Probing muscle ankyrin-repeat protein (MARP) structure and function.
Ankrd2 as a potent repressor of inflammatory responses through direct interaction with the NF-kappaB repressor subunit p50.
Title: Ankrd2 is a modulator of NF-κB-mediated inflammatory responses during muscle differentiation.
The orthologs of ANKRD2 in mouse and rat, which are also titin binding proteins, are stretch-response genes associated with slow muscle function and these proteins are part of a separate mechanotransduction system to the one that regulates muscle mass.
Title: Expression of Ankrd2 in fast and slow muscles and its response to stretch are consistent with a role in slow muscle function.
Although analyzed in a limited number of patients, there is a considerable body of evidence that MARP proteins could be suitable candidates for prognostic and diagnostic biomarkers.
Title: Muscle ankyrin repeat proteins: their role in striated muscle function in health and disease.
Ankrd2 is a potent regulator in muscle cells affecting a multitude of pathways and processes
Title: Multi-tasking role of the mechanosensing protein Ankrd2 in the signaling network of striated muscle.
Ankrd2 is a novel Akt2 specific substrate and regulates myogenic differentiation
Title: Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H(2)O(2).
Observational study of gene-disease association. (HuGE Navigator)
Title: A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
These findings suggest that type-specific expression patterns of ARPP and CARP are altered in skeletal muscles of amyotrophic lateral sclerosis.
Title: Altered expression of cardiac ankyrin repeat protein and its homologue, ankyrin repeat protein with PEST and proline-rich region, in atrophic muscles in amyotrophic lateral sclerosis.

Submit: New GeneRIF Correction See all GeneRIFs (13)

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

RH41894 (e-PCR)
- UniSTS:48901

RH48677 (e-PCR)
- UniSTS:38949

NoName (e-PCR)
- UniSTS:486592

NoName (e-PCR)
- UniSTS:494528

RH99032 (e-PCR)
- UniSTS:89042

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase B binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural constituent of muscle	NAS Non-traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in muscle contraction	NAS Non-traceable Author Statement more info	PubMed
involved_in muscle organ development	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of myoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of transcription by RNA polymerase II	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with I band	ISS Inferred from Sequence or Structural Similarity more info
located_in PML body	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
part_of euchromatin	ISS Inferred from Sequence or Structural Similarity more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: ankyrin repeat domain-containing protein 2

Names: ankyrin repeat domain 2 (stretch responsive muscle); skeletal muscle ankyrin repeat protein

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.

Genomic

NG_034079.1 RefSeqGene

Range

5339..16444

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001129981.3 → NP_001123453.1 ankyrin repeat domain-containing protein 2 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 3' coding region compared to variant 1. The encoded isoform (b) has a shorter N-terminus compared to isoform c. Translation begins at a downstream in-frame start codon compared to the AUG used in this transcript to produce isoform d.

Source sequence(s)

AL355315, AL359388

Consensus CDS

CCDS44468.1

UniProtKB/TrEMBL

B2RBQ4

Related

ENSP00000298808.5, ENST00000298808.9

Conserved Domains (4) summary

cd00204
Location:175 → 283

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 ...

pfam12796
Location:185 → 277

Ank_2; Ankyrin repeats (3 copies)

pfam13637
Location:151 → 201

Ank_4; Ankyrin repeats (many copies)

sd00045
Location:182 → 211

ANK; ANK repeat [structural motif]
NM_001291218.2 → NP_001278147.1 ankyrin repeat domain-containing protein 2 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longest isoform (c, also known as L-Ankrd2).

Source sequence(s)

AJ346356, AJ583444, AL355315

UniProtKB/Swiss-Prot

Q9GZV1

Conserved Domains (3) summary

sd00045
Location:301 → 330

ANK; ANK repeat [structural motif]

pfam13637
Location:236 → 287

Ank_4; Ankyrin repeats (many copies)

pfam12796
Location:271 → 363

Ank_2; Ankyrin repeats (3 copies)
NM_001291219.3 → NP_001278148.2 ankyrin repeat domain-containing protein 2 isoform f

Status: REVIEWED

Source sequence(s)

BC020817, F36391

Consensus CDS

CCDS86134.1

UniProtKB/TrEMBL

B2RBQ4, Q5T457

Related

ENSP00000403114.1, ENST00000455090.1

Conserved Domains (2) summary

cd00204
Location:148 → 256

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:155 → 184

ANK; ANK repeat [structural motif]
NM_001346793.2 → NP_001333722.1 ankyrin repeat domain-containing protein 2 isoform e

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the use of a downstream in-frame start codon compared to the AUG used in the transcript that produces isoform c. The encoded isoform (e, also known as S-Ankrd2) has a shorter N-terminus compared to isoform c.

Source sequence(s)

AL355315, AL359388

Consensus CDS

CCDS86133.1

UniProtKB/TrEMBL

A0A0A0MRN9, B2RBQ4

Related

ENSP00000359689.1, ENST00000370655.6
NM_020349.4 → NP_065082.2 ankyrin repeat domain-containing protein 2 isoform a

See identical proteins and their annotated locations for NP_065082.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the use of a downstream in-frame start codon compared to the AUG used in the transcript that produces isoform c. The encoded isoform (a, also known as M-Ankrd2) has a shorter N-terminus compared to isoform c.

Source sequence(s)

AL355315, AL359388

Consensus CDS

CCDS7466.1

UniProtKB/Swiss-Prot

Q3B778, Q5T456, Q70EZ9, Q8WUD7, Q96MG0, Q9GZV1, Q9NQC9

UniProtKB/TrEMBL

B2RBQ4

Related

ENSP00000306163.5, ENST00000307518.9

Conserved Domains (3) summary

cd00204
Location:175 → 300

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:215 → 244

ANK; ANK repeat [structural motif]

cl26072
Location:267 → 338

Ank_5; Ankyrin repeats (many copies)