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Protein

APC membrane recruitment protein 2

Gene

AMER2

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

Functioni

Negative regulator of the canonical Wnt signaling pathway involved in neuroectodermal patterning. Acts by specifically binding phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2), translocating to the cell membrane and interacting with key regulators of the canonical Wnt signaling pathway, such as components of the beta-catenin destruction complex.1 Publication

GO - Molecular functioni

  • beta-catenin binding Source: GO_Central
  • phosphatidylinositol-4,5-bisphosphate binding Source: UniProtKB

GO - Biological processi

Keywordsi

Biological processWnt signaling pathway
LigandLipid-binding

Names & Taxonomyi

Protein namesi
Recommended name:
APC membrane recruitment protein 2
Short name:
Amer2
Alternative name(s):
Protein FAM123A
Gene namesi
Name:AMER2
Synonyms:FAM123A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 13

Organism-specific databases

EuPathDBiHostDB:ENSG00000165566.12
HGNCiHGNC:26360 AMER2
MIMi614659 gene
neXtProtiNX_Q8N7J2

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

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi219287
OpenTargetsiENSG00000165566
PharmGKBiPA145148898

Polymorphism and mutation databases

BioMutaiAMER2
DMDMi338817901

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002818851 – 671APC membrane recruitment protein 2Add BLAST671

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei162PhosphoserineBy similarity1
Modified residuei229PhosphoserineBy similarity1
Modified residuei233PhosphoserineBy similarity1
Modified residuei355PhosphoserineBy similarity1
Modified residuei358PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N7J2
PeptideAtlasiQ8N7J2
PRIDEiQ8N7J2

PTM databases

iPTMnetiQ8N7J2
PhosphoSitePlusiQ8N7J2

Expressioni

Gene expression databases

BgeeiENSG00000165566
CleanExiHS_FAM123A
GenevisibleiQ8N7J2 HS

Organism-specific databases

HPAiHPA039458

Interactioni

Subunit structurei

Interacts with APC.2 Publications

GO - Molecular functioni

Protein-protein interaction databases

IntActiQ8N7J2, 1 interactor
MINTiQ8N7J2
STRINGi9606.ENSP00000426528

Structurei

3D structure databases

ProteinModelPortaliQ8N7J2
SMRiQ8N7J2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi8 – 150Gly-richAdd BLAST143

Sequence similaritiesi

Belongs to the Amer family.Curated

Phylogenomic databases

eggNOGiENOG410IM10 Eukaryota
ENOG410ZHFV LUCA
GeneTreeiENSGT00530000063529
HOGENOMiHOG000168235
HOVERGENiHBG107862
InParanoidiQ8N7J2
OMAiCLMFSDV
OrthoDBiEOG091G0IGZ
PhylomeDBiQ8N7J2
TreeFamiTF333006

Family and domain databases

InterProiView protein in InterPro
IPR019003 AMER
PANTHERiPTHR22237 PTHR22237, 1 hit
PfamiView protein in Pfam
PF09422 WTX, 1 hit

Sequences (2)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q8N7J2-1) [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
METSRSRGGG GAVSERGGAG ASVGVCRRKA EAGAGTGTLA ADMDLHCDCA
60 70 80 90 100
AETPAAEPPS GKINKAAFKL FKKRKSGGTM PSIFGVKNKG DGKSSGPTGL
110 120 130 140 150
VRSRTHDGLA EVLVLESGRK EEPRGGGDSG GGGGGRPNPG PPRAAGPGGG
160 170 180 190 200
SLASSSVAKS HSFFSLLKKN GRSENGKGEP VDASKAGGKQ KRGLRGLFSG
210 220 230 240 250
MRWHRKDKRA KAEAAEGRAP GGGLILPGSL TASLECVKEE TPRAAREPEE
260 270 280 290 300
PSQDAPRDPA GEPAGGEEVP APADRAPARS CREAEGLAHP GDTGARGEDA
310 320 330 340 350
AGHRRAEPGP GEVRTAEDAS RTGAVPVKTV PLVDSEGGSG RAPAAPDPAS
360 370 380 390 400
VDPPSDPSAD RICLMFSDVT SLKSFDSLTG CGDIIADQEE EAGPSCDKHV
410 420 430 440 450
PGPGKPALSK KNPGVVAYQG GGEEMASPDE VDDTYLQEFW DMLSQTEEQG
460 470 480 490 500
PEPQEGAAKV AAALETKVVP ETPKDTRCVE AAKDASSVKR RRLNRIPIEP
510 520 530 540 550
HPKEEPKHPE KEQQEGVPNS DEGYWDSTTP GPEEDSSSSG KKAGIPRDSY
560 570 580 590 600
SGDALYDLYA DPDGSPATLP GGKDNEETSS LSRLKPVSPG TITCPLRTPG
610 620 630 640 650
SLLKDSKIPI SIKHLTNLPS SHPVVHQQPS RSEMPRTKIP VSKVLVRRVS
660 670
NRGLAGTTIR ATACHDSAKK L
Length:671
Mass (Da):69,507
Last modified:June 28, 2011 - v3
Checksum:i0640CCCCD03E0334
GO
Isoform 2 (identifier: Q8N7J2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     261-379: Missing.

Show »
Length:552
Mass (Da):57,583
Checksum:iDD5279E3144D7CB1
GO

Sequence cautioni

The sequence AAH32653 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH41392 differs from that shown. Reason: Frameshift at positions 421 and 485.Curated
The sequence BAC05288 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti120K → E in BAB70845 (PubMed:14702039).Curated1
Sequence conflicti142P → S in AAH41392 (PubMed:15489334).Curated1
Sequence conflicti265G → V in BAC05288 (PubMed:14702039).Curated1
Sequence conflicti290P → A in AAH41392 (PubMed:15489334).Curated1
Sequence conflicti442M → V in BAB70845 (PubMed:14702039).Curated1
Sequence conflicti511K → E in AAH41392 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036448457A → T in a colorectal cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_031303659I → M. Corresponds to variant dbSNP:rs2282406Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024089261 – 379Missing in isoform 2. 2 PublicationsAdd BLAST119

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK055049 mRNA Translation: BAB70845.1
AK098343 mRNA Translation: BAC05288.1 Different initiation.
AL359757 Genomic DNA No translation available.
BC032653 mRNA Translation: AAH32653.2 Different initiation.
BC041392 mRNA Translation: AAH41392.1 Frameshift.
CCDSiCCDS53859.1 [Q8N7J2-1]
CCDS9312.1 [Q8N7J2-2]
RefSeqiNP_689917.2, NM_152704.3 [Q8N7J2-1]
NP_954589.1, NM_199138.2 [Q8N7J2-2]
XP_005266336.1, XM_005266279.3 [Q8N7J2-1]
XP_005266337.1, XM_005266280.3 [Q8N7J2-1]
XP_016875904.1, XM_017020415.1 [Q8N7J2-1]
UniGeneiHs.528335
Hs.731897

Genome annotation databases

EnsembliENST00000357816; ENSP00000350469; ENSG00000165566 [Q8N7J2-2]
ENST00000515384; ENSP00000426528; ENSG00000165566 [Q8N7J2-1]
GeneIDi219287
KEGGihsa:219287
UCSCiuc001uqb.5 human [Q8N7J2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiAMER2_HUMAN
AccessioniPrimary (citable) accession number: Q8N7J2
Secondary accession number(s): Q5RL80
, Q5VX56, Q8N593, Q96NN5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2007
Last sequence update: June 28, 2011
Last modified: May 23, 2018
This is version 102 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 13
    Human chromosome 13: 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

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