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

Gene ID: 26287, updated on 13-Mar-2020

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
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

Genomic context

See ANKRD2 in Genome Data Viewer
Location:
10q24.2
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (97572441..97583884)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (99332256..99343641)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene MMS19 homolog, cytosolic iron-sulfur assembly component Neighboring gene ubiquitin domain containing 1 Neighboring gene chromosome 10 open reading frame 62 Neighboring gene 4-hydroxy-2-oxoglutarate aldolase 1 Neighboring gene MORN repeat containing 4

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104314

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II sequence-specific DNA-binding transcription factor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II sequence-specific DNA-binding transcription factor binding IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein kinase B binding IPI
Inferred from Physical Interaction
more info
PubMed 
structural constituent of muscle NAS
Non-traceable Author Statement
more info
PubMed 
titin binding IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
colocalizes_with I band ISS
Inferred from Sequence or Structural Similarity
more info
 
PML body IEA
Inferred from Electronic Annotation
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
euchromatin ISS
Inferred from Sequence or Structural Similarity
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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

  1. NG_034079.1 RefSeqGene

    Range
    5063..16444
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001129981.3NP_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/Swiss-Prot
    Q9GZV1
    Related
    ENSP00000298808.5, ENST00000298808.9
    Conserved Domains (4) summary
    cd00204
    Location:175283
    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:185277
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:151201
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:182211
    ANK; ANK repeat [structural motif]
  2. NM_001291218.1NP_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 (4) summary
    cd00204
    Location:261386
    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:271363
    Ank_2; Ankyrin repeats (3 copies)
    pfam13637
    Location:237287
    Ank_4; Ankyrin repeats (many copies)
    sd00045
    Location:301330
    ANK; ANK repeat [structural motif]
  3. NM_001291219.3NP_001278148.2  ankyrin repeat domain-containing protein 2 isoform f

    Status: REVIEWED

    Source sequence(s)
    BC020817, F36391
    Consensus CDS
    CCDS86134.1
    UniProtKB/Swiss-Prot
    Q9GZV1
    UniProtKB/TrEMBL
    Q5T457
    Related
    ENSP00000403114.1, ENST00000455090.1
    Conserved Domains (2) summary
    cd00204
    Location:148256
    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:155184
    ANK; ANK repeat [structural motif]
  4. NM_001346793.2NP_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
    Related
    ENSP00000359689.1, ENST00000370655.6
  5. NM_020349.4NP_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
    Q9GZV1
    Related
    ENSP00000306163.5, ENST00000307518.9
    Conserved Domains (3) summary
    cd00204
    Location:175300
    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:215244
    ANK; ANK repeat [structural motif]
    cl26072
    Location:267338
    Ank_5; Ankyrin repeats (many copies)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    97572441..97583884
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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