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AMER2 APC membrane recruitment protein 2 [ Homo sapiens (human) ]

Gene ID: 219287, updated on 17-Sep-2024

Summary

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Official Symbol
AMER2provided by HGNC
Official Full Name
APC membrane recruitment protein 2provided by HGNC
Primary source
HGNC:HGNC:26360
See related
Ensembl:ENSG00000165566 MIM:614659; AllianceGenome:HGNC:26360
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FAM123A
Summary
Enables phosphatidylinositol-4,5-bisphosphate binding activity. Involved in negative regulation of canonical Wnt signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward brain (RPKM 25.9) See more
Orthologs
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Genomic context

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See AMER2 in Genome Data Viewer
Location:
13q12.13
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (25161679..25172288, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (24371351..24382125, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (25735817..25746426, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900613 Neighboring gene Sharpr-MPRA regulatory region 9769 Neighboring gene poly(A) binding protein cytoplasmic 3 Neighboring gene uncharacterized LOC105370120 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:25710909-25711473 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:25711474-25712037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5183 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr13:25747285-25748484 Neighboring gene long intergenic non-protein coding RNA 463 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7482 Neighboring gene long intergenic non-protein coding RNA 1053

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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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Related articles in PubMed

  1. FAM123A binds to microtubules and inhibits the guanine nucleotide exchange factor ARHGEF2 to decrease actomyosin contractility. Siesser PF, et al. Sci Signal, 2012 Sep 4. PMID 22949735, Free PMC Article
  2. The WTX/AMER1 gene family: evolution, signature and function. Boutet A, et al. BMC Evol Biol, 2010 Sep 15. PMID 20843316, Free PMC Article
  3. Amer2 protein is a novel negative regulator of Wnt/β-catenin signaling involved in neuroectodermal patterning. Pfister AS, et al. J Biol Chem, 2012 Jan 13. PMID 22128170, Free PMC Article
  4. Amer2 protein interacts with EB1 protein and adenomatous polyposis coli (APC) and controls microtubule stability and cell migration. Pfister AS, et al. J Biol Chem, 2012 Oct 12. PMID 22898821, Free PMC Article
  5. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article

See all (16) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. FAM123A binds to microtubules and inhibits the guanine nucleotide exchange factor ARHGEF2 to decrease actomyosin contractility.
    Title: FAM123A binds to microtubules and inhibits the guanine nucleotide exchange factor ARHGEF2 to decrease actomyosin contractility.
  2. the Amer2-EB1-APC complex regulates cell migration by altering microtubule stability.
    Title: Amer2 protein interacts with EB1 protein and adenomatous polyposis coli (APC) and controls microtubule stability and cell migration.
  3. data characterize Amer2 for the first time as a negative regulator of Wnt signaling both in cell lines and in vivo and define Amer proteins as a novel family of Wnt pathway regulators.
    Title: Amer2 protein is a novel negative regulator of Wnt/β-catenin signaling involved in neuroectodermal patterning.
Submit: New GeneRIF Correction

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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25477

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables phosphatidylinositol-4,5-bisphosphate binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in ectoderm development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
APC membrane recruitment protein 2
Names
family with sequence similarity 123A
protein FAM123A

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.

mRNA and Protein(s)

  1. NM_152704.4 → NP_689917.2  APC membrane recruitment protein 2 isoform 1

    See identical proteins and their annotated locations for NP_689917.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents an unspliced transcript that encodes the longer isoform (1)
    Source sequence(s)
    AL359757
    Consensus CDS
    CCDS53859.1
    UniProtKB/Swiss-Prot
    Q5RL80, Q5VX56, Q8N593, Q8N7J2, Q96NN5
    Related
    ENSP00000426528.1, ENST00000515384.2
    Conserved Domains (1) summary
    pfam09422
    Location:99 → 588
    WTX; WTX protein

  2. NM_199138.2 → NP_954589.1  APC membrane recruitment protein 2 isoform 2

    See identical proteins and their annotated locations for NP_954589.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) is spliced compared to variant 1 and encodes a shorter isoform (2), which lacks an internal protein segment, compared to isoform 1.
    Source sequence(s)
    AK055049, AL359757, AL832586, BC032653, BC045677, DA210701
    Consensus CDS
    CCDS9312.1
    UniProtKB/Swiss-Prot
    Q8N7J2
    Related
    ENSP00000350469.2, ENST00000357816.2
    Conserved Domains (1) summary
    pfam09422
    Location:99 → 469
    WTX; WTX protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    25161679..25172288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020415.2 → XP_016875904.1  APC membrane recruitment protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q5RL80, Q5VX56, Q8N593, Q8N7J2, Q96NN5
    Conserved Domains (1) summary
    pfam09422
    Location:99 → 588
    WTX; WTX protein

  2. XM_005266280.5 → XP_005266337.1  APC membrane recruitment protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005266337.1

    UniProtKB/Swiss-Prot
    Q5RL80, Q5VX56, Q8N593, Q8N7J2, Q96NN5
    Conserved Domains (1) summary
    pfam09422
    Location:99 → 588
    WTX; WTX protein

  3. XM_005266279.5 → XP_005266336.1  APC membrane recruitment protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005266336.1

    UniProtKB/Swiss-Prot
    Q5RL80, Q5VX56, Q8N593, Q8N7J2, Q96NN5
    Conserved Domains (1) summary
    pfam09422
    Location:99 → 588
    WTX; WTX protein

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    24371351..24382125 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374170.1 → XP_054230145.1  APC membrane recruitment protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q5RL80, Q5VX56, Q8N593, Q8N7J2, Q96NN5

  2. XM_054374171.1 → XP_054230146.1  APC membrane recruitment protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q5RL80, Q5VX56, Q8N593, Q8N7J2, Q96NN5

  3. XM_054374169.1 → XP_054230144.1  APC membrane recruitment protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q5RL80, Q5VX56, Q8N593, Q8N7J2, Q96NN5
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N7J2.3 GenPept UniProtKB/Swiss-Prot:Q8N7J2

Gene LinkOut

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