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

Gene ID: 386724, updated on 17-Jun-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 and heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (49716829..49719684, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (49746115..49748970, complement)
105.20220307 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)

Genotypes

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 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 IEA
Inferred from Electronic Annotation
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_2023_10

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
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