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    AMIGO3 adhesion molecule with Ig like domain 3 [ Homo sapiens (human) ]

    Gene ID: 386724, updated on 27-Dec-2024

    Summary

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    Official Symbol
    AMIGO3provided by HGNC
    Official Full Name
    adhesion molecule with Ig like domain 3provided by HGNC
    Primary source
    HGNC:HGNC:24075
    See related
    Ensembl:ENSG00000176020 MIM:615691; AllianceGenome:HGNC:24075
    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
    ALI3; AMIGO-3
    Summary
    Predicted to be involved in brain development; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and positive regulation of synapse assembly. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Orthologs
    mouse all
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    Genomic context

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    See AMIGO3 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49716829..49719684, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49746115..49748970, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (49754262..49757117, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14368 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14369 Neighboring gene bassoon presynaptic cytomatrix protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49675623-49676124 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49676125-49676624 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49682435-49682618 Neighboring gene Sharpr-MPRA regulatory region 2684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49723317-49724030 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49724031-49724744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49726261-49726820 Neighboring gene acylaminoacyl-peptide hydrolase Neighboring gene Sharpr-MPRA regulatory region 3541 Neighboring gene ring finger protein 123 Neighboring gene macrophage stimulating 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:49754537-49755037 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:49756083-49756890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19873 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:49758476-49758653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19874 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14372 Neighboring gene GDP-mannose pyrophosphorylase B Neighboring gene inositol hexakisphosphate kinase 1 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 14

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Kv2 channel-AMIGO β-subunit assembly modulates both channel function and cell adhesion molecule surface trafficking. Maverick EE, et al. J Cell Sci, 2021 Jun 15. PMID 34137443, Free PMC Article
    2. AMIGO, a transmembrane protein implicated in axon tract development, defines a novel protein family with leucine-rich repeats. Kuja-Panula J, et al. J Cell Biol, 2003 Mar 17. PMID 12629050, Free PMC Article
    3. Association analysis of 3p21 with Crohn's disease in a New Zealand population. Morgan AR, et al. Hum Immunol, 2010 Jun. PMID 20307617
    4. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Anderson CA, et al. Nat Genet, 2011 Mar. PMID 21297633, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. Nagase T, et al. DNA Res, 2001 Apr 27. PMID 11347906

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association analysis of 3p21 with Crohn's disease in a New Zealand population.
    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

    EBI GWAS Catalog

    Description
    Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: GMPPB

    Homology

    Clone Names

    • MGC120552

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in negative regulation of neuron projection development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of synapse assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    amphoterin-induced protein 3
    Names
    alivin-3
    amphoterin-induced gene and ORF 3
    NP_942015.1

    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_198722.3 → NP_942015.1  amphoterin-induced protein 3 precursor

      See identical proteins and their annotated locations for NP_942015.1

      Status: VALIDATED

      Source sequence(s)
      AC099668, BC110418
      Consensus CDS
      CCDS33759.1
      UniProtKB/Swiss-Prot
      Q494V6, Q86WK7, Q96JH6
      UniProtKB/TrEMBL
      Q494V5
      Related
      ENSP00000323096.7, ENST00000320431.8
      Conserved Domains (3) summary
      smart00410
      Location:286 → 371
      IG_like; Immunoglobulin like
      sd00033
      Location:45 → 65
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:86 → 145
      LRR_8; Leucine rich repeat

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      49716829..49719684 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      49746115..49748970 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86WK7.1 GenPept UniProtKB/Swiss-Prot:Q86WK7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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