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Protein

Ankyrin repeat domain-containing protein 2

Gene

ANKRD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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
  • transcription coregulator activity Source: GO_Central

GO - Biological processi

  • muscle contraction Source: UniProtKB
  • muscle organ development Source: UniProtKB
  • negative regulation of myoblast differentiation Source: UniProtKB
  • negative regulation of myotube differentiation Source: Ensembl
  • negative regulation of transcription by RNA polymerase II Source: MGI
  • regulation of cytokine production Source: Ensembl
  • regulation of intrinsic apoptotic signaling pathway by p53 class mediator Source: Ensembl
  • regulation of myoblast proliferation Source: Ensembl
  • regulation of transcription from RNA polymerase II promoter in response to oxidative stress Source: MGI
  • skeletal muscle cell differentiation Source: GO_Central

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000165887.11
HGNCiHGNC:495 ANKRD2
MIMi610734 gene
neXtProtiNX_Q9GZV1

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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

EPDiQ9GZV1
MaxQBiQ9GZV1
PaxDbiQ9GZV1
PeptideAtlasiQ9GZV1
PRIDEiQ9GZV1
ProteomicsDBi80153
80154 [Q9GZV1-2]

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, 9 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

Keywords - Domaini

ANK repeat, Repeat

Phylogenomic databases

eggNOGiKOG0504 Eukaryota
COG0666 LUCA
GeneTreeiENSGT00910000144039
HOVERGENiHBG071561
InParanoidiQ9GZV1
KOiK21434
OMAiDTCDQFR
OrthoDBiEOG091G0DCN
PhylomeDBiQ9GZV1
TreeFamiTF331650

Family and domain databases

CDDicd00204 ANK, 1 hit
Gene3Di1.25.40.20, 2 hits
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
PfamiView protein in Pfam
PF12796 Ank_2, 2 hits
PRINTSiPR01415 ANKYRIN
SMARTiView protein in SMART
SM00248 ANK, 5 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 1 hit
PS50088 ANK_REPEAT, 4 hits

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 → T4 PublicationsCorresponds to variant dbSNP:rs7094973Ensembl.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_001278148.2, NM_001291219.2
NP_001333726.1, NM_001346797.1
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

Similar proteinsi

Entry informationi

Entry nameiANKR2_HUMAN
AccessioniPrimary (citable) accession number: Q9GZV1
Secondary accession number(s): Q3B778
, Q5T456, Q70EZ9, Q8WUD7, Q96MG0, Q9NQC9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 11, 2002
Last sequence update: April 8, 2008
Last modified: July 18, 2018
This is version 151 of the entry and version 3 of the sequence. See 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

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