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

Gene ID: 219287, updated on 5-Sep-2021

Summary

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
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
Expression
Restricted expression toward brain (RPKM 25.9) See more
Orthologs
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Genomic context

See AMER2 in Genome Data Viewer
Location:
13q12.13
Exon count:
3
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (25161679..25172451, complement)
105.20201022 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 LOC105370119 Neighboring gene uncharacterized LOC105370120 Neighboring gene poly(A) binding protein cytoplasmic 3 Neighboring gene long intergenic non-protein coding RNA 463 Neighboring gene long intergenic non-protein coding RNA 1053

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
enables phosphatidylinositol-4,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_152704.4NP_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
    Q8N7J2
    Related
    ENSP00000426528.1, ENST00000515384.2
    Conserved Domains (1) summary
    pfam09422
    Location:99588
    WTX; WTX protein
  2. NM_199138.2NP_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:99469
    WTX; WTX protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    25161679..25172451 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005266280.4XP_005266337.1  APC membrane recruitment protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005266337.1

    UniProtKB/Swiss-Prot
    Q8N7J2
    Conserved Domains (1) summary
    pfam09422
    Location:99588
    WTX; WTX protein
  2. XM_017020415.1XP_016875904.1  APC membrane recruitment protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N7J2
    Conserved Domains (1) summary
    pfam09422
    Location:99588
    WTX; WTX protein
  3. XM_005266279.4XP_005266336.1  APC membrane recruitment protein 2 isoform X1

    See identical proteins and their annotated locations for XP_005266336.1

    UniProtKB/Swiss-Prot
    Q8N7J2
    Conserved Domains (1) summary
    pfam09422
    Location:99588
    WTX; WTX protein
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