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Protein

Ankyrin repeat domain-containing protein 2

Gene

ANKRD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress.2 Publications

GO - Molecular functioni

  • chromatin binding Source: Ensembl
  • protein kinase B binding Source: UniProtKB
  • RNA polymerase II sequence-specific DNA binding transcription factor binding Source: MGI
  • structural constituent of muscle Source: UniProtKB
  • titin binding Source: GO_Central

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165887-MONOMER.
SIGNORiQ9GZV1.

Names & Taxonomyi

Protein namesi
Recommended name:
Ankyrin repeat domain-containing protein 2
Alternative name(s):
Skeletal muscle ankyrin repeat protein
Short name:
hArpp
Gene namesi
Name:ANKRD2
Synonyms:ARPP
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

HGNCiHGNC:495. ANKRD2.

Subcellular locationi

  • CytoplasmmyofibrilsarcomereI band By similarity
  • Cytoplasmcytosol
  • Nucleus
  • NucleusPML body

  • Note: In the sarcoplasm of differentiated striated muscle cells, where it is cytosolic and enriched in the I band. In nucleus and PML bodies of proliferating and undifferentiated myoblasts. Associates with the euchromatin in the nucleus of myocytes upon muscle stress.

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • euchromatin Source: UniProtKB
  • I band Source: UniProtKB-SubCell
  • intracellular membrane-bounded organelle Source: HPA
  • nucleus Source: UniProtKB
  • PML body Source: UniProtKB-SubCell
  • sarcomere Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi99S → A: Loss of interaction and phosphorylation by PKB/AKT2, loss of translocation to the nucleus and loss of function in myocyte differentiation. 1 Publication1

Organism-specific databases

DisGeNETi26287.
OpenTargetsiENSG00000165887.
PharmGKBiPA24804.

Polymorphism and mutation databases

BioMutaiANKRD2.
DMDMi182676433.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000668971 – 360Ankyrin repeat domain-containing protein 2Add BLAST360

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei99Phosphoserine; by PKB/AKT21 Publication1

Post-translational modificationi

Phosphorylation at Ser-99 by PKB/AKT2 in response to oxidative stress induces translocation to the nucleus and negatively regulates myoblast differentiation.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ9GZV1.
PaxDbiQ9GZV1.
PeptideAtlasiQ9GZV1.
PRIDEiQ9GZV1.

PTM databases

iPTMnetiQ9GZV1.
PhosphoSitePlusiQ9GZV1.

Expressioni

Tissue specificityi

Mostly expressed in skeletal and cardiac muscles. Found in slow fibers. Also expressed in kidney, but to a lower extent (at protein level).2 Publications

Gene expression databases

BgeeiENSG00000165887.
CleanExiHS_ANKRD2.
ExpressionAtlasiQ9GZV1. baseline and differential.
GenevisibleiQ9GZV1. HS.

Organism-specific databases

HPAiHPA040842.
HPA040884.

Interactioni

Subunit structurei

Interacts with ID3; both proteins cooperate in myoblast differentiation (By similarity). Interacts with TTN/titin. Interacts (via ANK repeats) with TCAP; the interaction is direct. Interacts with TJP1 (via PDZ domains). Interacts with PML; the interaction is direct. Interacts with p53/TP53. Interacts with YBX1. Interacts with AKT2.By similarity4 Publications

GO - Molecular functioni

  • protein kinase B binding Source: UniProtKB
  • RNA polymerase II sequence-specific DNA binding transcription factor binding Source: MGI
  • titin binding Source: GO_Central

Protein-protein interaction databases

BioGridi117669. 8 interactors.
IntActiQ9GZV1. 1 interactor.
STRINGi9606.ENSP00000306163.

Structurei

3D structure databases

ProteinModelPortaliQ9GZV1.
SMRiQ9GZV1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati147 – 176ANK 1Add BLAST30
Repeati180 – 209ANK 2Add BLAST30
Repeati213 – 242ANK 3Add BLAST30
Repeati246 – 275ANK 4Add BLAST30
Repeati279 – 308ANK 5Add BLAST30

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni5 – 120May mediate interaction with PML, p53/TP53 and YBX11 PublicationAdd BLAST116

Sequence similaritiesi

Contains 5 ANK repeats.PROSITE-ProRule annotation

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133710.
HOVERGENiHBG071561.
InParanoidiQ9GZV1.
OMAiRGDARQK.
OrthoDBiEOG091G0DCN.
PhylomeDBiQ9GZV1.
TreeFamiTF331650.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 5 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9GZV1-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAKAPSWAGV GALAYKAPEA LWPAEAVMDG TMEDSEAVQR ATALIEQRLA
60 70 80 90 100
QEEENEKLRG DARQKLPMDL LVLEDEKHHG AQSAALQKVK GQERVRKTSL
110 120 130 140 150
DLRREIIDVG GIQNLIELRK KRKQKKRDAL AASHEPPPEP EEITGPVDEE
160 170 180 190 200
TFLKAAVEGK MKVIEKFLAD GGSADTCDQF RRTALHRASL EGHMEILEKL
210 220 230 240 250
LDNGATVDFQ DRLDCTAMHW ACRGGHLEVV KLLQSHGADT NVRDKLLSTP
260 270 280 290 300
LHVAVRTGQV EIVEHFLSLG LEINARDREG DTALHDAVRL NRYKIIKLLL
310 320 330 340 350
LHGADMMTKN LAGKTPTDLV QLWQADTRHA LEHPEPGAEH NGLEGPNDSG
360
RETPQPVPAQ
Length:360
Mass (Da):39,859
Last modified:April 8, 2008 - v3
Checksum:iE88FC3FA242D0739
GO
Isoform 2 (identifier: Q9GZV1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     246-278: Missing.

Note: No experimental confirmation available.
Show »
Length:327
Mass (Da):36,193
Checksum:i8F62DAC9B5DB86B4
GO

Sequence cautioni

The sequence AK056990 differs from that shown. Reason: Erroneous termination at position 210. Translated as Gln.Curated
The sequence BAB60958 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC19411 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC19412 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAE47432 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti49L → S in CAB99416 (PubMed:10873377).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04249862A → T.4 PublicationsCorresponds to variant rs7094973dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_000269246 – 278Missing in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ304804 Genomic DNA. Translation: CAC19411.1. Different initiation.
AJ304805 mRNA. Translation: CAC19412.1. Different initiation.
AJ583444 mRNA. Translation: CAE47432.1. Different initiation.
AK056990 mRNA. No translation available.
AL355315 Genomic DNA. No translation available.
AL359388 Genomic DNA. No translation available.
BC020817 mRNA. Translation: AAH20817.2.
BC107759 mRNA. Translation: AAI07760.1.
AB058599 mRNA. Translation: BAB60958.1. Different initiation.
AJ249975 mRNA. Translation: CAB99416.1.
CCDSiCCDS44468.1. [Q9GZV1-2]
CCDS7466.1. [Q9GZV1-1]
PIRiJC7713.
RefSeqiNP_001123453.1. NM_001129981.2. [Q9GZV1-2]
NP_001278147.1. NM_001291218.1.
NP_001278148.1. NM_001291219.1.
NP_065082.2. NM_020349.3. [Q9GZV1-1]
UniGeneiHs.73708.

Genome annotation databases

EnsembliENST00000298808; ENSP00000298808; ENSG00000165887. [Q9GZV1-2]
ENST00000307518; ENSP00000306163; ENSG00000165887. [Q9GZV1-1]
GeneIDi26287.
KEGGihsa:26287.
UCSCiuc001knw.5. human. [Q9GZV1-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ304804 Genomic DNA. Translation: CAC19411.1. Different initiation.
AJ304805 mRNA. Translation: CAC19412.1. Different initiation.
AJ583444 mRNA. Translation: CAE47432.1. Different initiation.
AK056990 mRNA. No translation available.
AL355315 Genomic DNA. No translation available.
AL359388 Genomic DNA. No translation available.
BC020817 mRNA. Translation: AAH20817.2.
BC107759 mRNA. Translation: AAI07760.1.
AB058599 mRNA. Translation: BAB60958.1. Different initiation.
AJ249975 mRNA. Translation: CAB99416.1.
CCDSiCCDS44468.1. [Q9GZV1-2]
CCDS7466.1. [Q9GZV1-1]
PIRiJC7713.
RefSeqiNP_001123453.1. NM_001129981.2. [Q9GZV1-2]
NP_001278147.1. NM_001291218.1.
NP_001278148.1. NM_001291219.1.
NP_065082.2. NM_020349.3. [Q9GZV1-1]
UniGeneiHs.73708.

3D structure databases

ProteinModelPortaliQ9GZV1.
SMRiQ9GZV1.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117669. 8 interactors.
IntActiQ9GZV1. 1 interactor.
STRINGi9606.ENSP00000306163.

PTM databases

iPTMnetiQ9GZV1.
PhosphoSitePlusiQ9GZV1.

Polymorphism and mutation databases

BioMutaiANKRD2.
DMDMi182676433.

Proteomic databases

MaxQBiQ9GZV1.
PaxDbiQ9GZV1.
PeptideAtlasiQ9GZV1.
PRIDEiQ9GZV1.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000298808; ENSP00000298808; ENSG00000165887. [Q9GZV1-2]
ENST00000307518; ENSP00000306163; ENSG00000165887. [Q9GZV1-1]
GeneIDi26287.
KEGGihsa:26287.
UCSCiuc001knw.5. human. [Q9GZV1-1]

Organism-specific databases

CTDi26287.
DisGeNETi26287.
GeneCardsiANKRD2.
HGNCiHGNC:495. ANKRD2.
HPAiHPA040842.
HPA040884.
MIMi610734. gene.
neXtProtiNX_Q9GZV1.
OpenTargetsiENSG00000165887.
PharmGKBiPA24804.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0504. Eukaryota.
COG0666. LUCA.
GeneTreeiENSGT00860000133710.
HOVERGENiHBG071561.
InParanoidiQ9GZV1.
OMAiRGDARQK.
OrthoDBiEOG091G0DCN.
PhylomeDBiQ9GZV1.
TreeFamiTF331650.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000165887-MONOMER.
SIGNORiQ9GZV1.

Miscellaneous databases

GeneWikiiANKRD2.
GenomeRNAii26287.
PROiQ9GZV1.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000165887.
CleanExiHS_ANKRD2.
ExpressionAtlasiQ9GZV1. baseline and differential.
GenevisibleiQ9GZV1. HS.

Family and domain databases

Gene3Di1.25.40.20. 2 hits.
InterProiIPR002110. Ankyrin_rpt.
IPR020683. Ankyrin_rpt-contain_dom.
[Graphical view]
PfamiPF12796. Ank_2. 2 hits.
[Graphical view]
PRINTSiPR01415. ANKYRIN.
SMARTiSM00248. ANK. 5 hits.
[Graphical view]
SUPFAMiSSF48403. SSF48403. 1 hit.
PROSITEiPS50297. ANK_REP_REGION. 1 hit.
PS50088. ANK_REPEAT. 4 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiANKR2_HUMAN
AccessioniPrimary (citable) accession number: Q9GZV1
Secondary accession number(s): Q3B778
, Q5T456, Q70EZ9, Q8WUD7, Q96MG0, Q9NQC9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: April 8, 2008
Last modified: November 30, 2016
This is version 138 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.