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

    Gene ID: 219287, updated on 28-Oct-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, Oct 2024]
    Expression
    Restricted expression toward brain (RPKM 25.9) See more
    Orthologs
    mouse all
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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

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