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AMIGO2 adhesion molecule with Ig like domain 2 [ Homo sapiens (human) ]

Gene ID: 347902, updated on 8-Dec-2022

Summary

Official Symbol
AMIGO2provided by HGNC
Official Full Name
adhesion molecule with Ig like domain 2provided by HGNC
Primary source
HGNC:HGNC:24073
See related
Ensembl:ENSG00000139211 MIM:615690; AllianceGenome:HGNC:24073
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
ALI1; DEGA; AMIGO-2
Summary
Predicted to be involved in several processes, including heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; homophilic cell adhesion via plasma membrane adhesion molecules; and negative regulation of programmed cell death. Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in nucleus and plasma membrane. Predicted to be integral component of membrane. Biomarker of gastric adenocarcinoma. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in gall bladder (RPKM 9.4), urinary bladder (RPKM 8.8) and 23 other tissues See more
Orthologs
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Genomic context

See AMIGO2 in Genome Data Viewer
Location:
12q13.11
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (47075707..47079959, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (47036477..47040734, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (47469490..47473742, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902925 Neighboring gene uncharacterized LOC107984466 Neighboring gene PC-esterase domain containing 1B Neighboring gene IFITM3P pseudogene 6 Neighboring gene microRNA 4698

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?

Phenotypes

EBI GWAS Catalog

Description
A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in negative regulation of programmed cell death ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
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
PubMed 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
amphoterin-induced protein 2
Names
alivin 1
amphoterin induced gene 2
differentially expressed in gastric adenocarcinoma
differentially expressed in gastric adenocarcinomas
transmembrane protein AMIGO2

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_001143668.1NP_001137140.1  amphoterin-induced protein 2 precursor

    See identical proteins and their annotated locations for NP_001137140.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) includes an alternate exon in the 5' UTR. The same protein is encoded by transcript variants 1-3.
    Source sequence(s)
    AB079074, AC004010, BC047595, BC095477
    Consensus CDS
    CCDS8751.1
    UniProtKB/Swiss-Prot
    Q86SJ2, Q96CN8
    UniProtKB/TrEMBL
    A0A024R127
    Related
    ENSP00000406020.1, ENST00000429635.1
    Conserved Domains (5) summary
    smart00410
    Location:298380
    IG_like; Immunoglobulin like
    COG4886
    Location:54240
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:5172
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:94175
    LRR_8; Leucine rich repeat
    cl15307
    Location:228283
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  2. NM_001370299.1NP_001357228.1  amphoterin-induced protein 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC004010
    Consensus CDS
    CCDS8751.1
    UniProtKB/Swiss-Prot
    Q96CN8
    UniProtKB/TrEMBL
    A0A024R127
    Related
    ENSP00000449034.1, ENST00000550413.2
    Conserved Domains (5) summary
    smart00410
    Location:298380
    IG_like; Immunoglobulin like
    COG4886
    Location:54240
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:5172
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:94175
    LRR_8; Leucine rich repeat
    cl15307
    Location:228283
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain
  3. NM_181847.4NP_862830.1  amphoterin-induced protein 2 precursor

    See identical proteins and their annotated locations for NP_862830.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) omits an alternate exon from the 5' UTR. The same protein is encoded by transcript variants 1-3.
    Source sequence(s)
    AB079074, AC004010, AY454159, BC095477, CN397638
    Consensus CDS
    CCDS8751.1
    UniProtKB/Swiss-Prot
    Q86SJ2, Q96CN8
    UniProtKB/TrEMBL
    A0A024R127
    Related
    ENSP00000266581.4, ENST00000266581.4
    Conserved Domains (5) summary
    smart00410
    Location:298380
    IG_like; Immunoglobulin like
    COG4886
    Location:54240
    LRR; Leucine-rich repeat (LRR) protein [Transcription]
    sd00033
    Location:5172
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:94175
    LRR_8; Leucine rich repeat
    cl15307
    Location:228283
    TPKR_C2; Tyrosine-protein kinase receptor C2 Ig-like domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    47075707..47079959 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047428785.1XP_047284741.1  amphoterin-induced protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q96CN8
    UniProtKB/TrEMBL
    A0A024R127

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    47036477..47040734 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)