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FAIM2 Fas apoptotic inhibitory molecule 2 [ Homo sapiens (human) ]

Gene ID: 23017, updated on 3-Apr-2024

Summary

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Official Symbol
FAIM2provided by HGNC
Official Full Name
Fas apoptotic inhibitory molecule 2provided by HGNC
Primary source
HGNC:HGNC:17067
See related
Ensembl:ENSG00000135472 MIM:604306; AllianceGenome:HGNC:17067
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
LFG; LFG2; NGP35; NMP35; TMBIM2
Summary
Involved in regulation of neuron apoptotic process. Acts upstream of or within negative regulation of extrinsic apoptotic signaling pathway via death domain receptors. Located in membrane raft. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 125.6) and adrenal (RPKM 12.3) See more
Orthologs
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Genomic context

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Location:
12q13.12
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (49866896..49903900, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (49829908..49867294, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (50260679..50297683, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene BCDIN3D antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6336 Neighboring gene BCDIN3 domain containing RNA methyltransferase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6337 Neighboring gene ribosomal protein L35a pseudogene 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50280844-50281632 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:50281633-50282421 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50282422-50283210 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:50288891-50289470 Neighboring gene long intergenic non-protein coding RNA 2396 Neighboring gene long intergenic non-protein coding RNA 2395

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
  • 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. Influence of lifestyle on the FAIM2 promoter methylation between obese and lean children: a cohort study. Wu L, et al. BMJ Open, 2015 Apr 28. PMID 25922107, Free PMC Article
  2. Promoter methylation of fas apoptotic inhibitory molecule 2 gene is associated with obesity and dyslipidaemia in Chinese children. Wu L, et al. Diab Vasc Dis Res, 2015 May. PMID 25696115
  3. Novel association of the obesity risk-allele near Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene with heart rate and study of its effects on myocardial infarction in diabetic participants of the PREDIMED trial. Corella D, et al. Cardiovasc Diabetol, 2014 Jan 6. PMID 24393375, Free PMC Article
  4. Common rs7138803 variant of FAIM2 and obesity in Han Chinese. Li C, et al. BMC Cardiovasc Disord, 2013 Aug 8. PMID 23924573, Free PMC Article
  5. The anti-apoptotic protein lifeguard is expressed in breast cancer cells and tissues. Bucan V, et al. Cell Mol Biol Lett, 2010 Jun. PMID 20336406, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. miR-127-5p regulates FAIM2-mediated cell apoptosis and participates in cerebral ischemia-reperfusion injury.
    Title: miR-127-5p regulates FAIM2-mediated cell apoptosis and participates in cerebral ischemia-reperfusion injury.
  2. FAIM2 is correlated with metastasis of medulloblastoma through bioinformatics analysis.
    Title: FAIM2 is correlated with metastasis of medulloblastoma through bioinformatics analysis.
  3. Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis.
    Title: Antiapoptotic Protein FAIM2 is targeted by miR-3202, and DUX4 via TRIM21, leading to cell death and defective myogenesis.
  4. SNHG7 and FAIM2 are up-regulated and co-expressed in colorectal adenocarcinoma tissues.", trans "SNHG7 a FAIM2 jsou ve tkani kolorektalniho karcinomu up-regulovany a koexprimovany.
    Title: SNHG7 and FAIM2 are up-regulated and co-expressed in colorectal adenocarcinoma tissues.
  5. Analysis of Polymorphisms rs7093069-IL-2RA, rs7138803-FAIM2, and rs1748033-PADI4 in the Group of Adolescents With Autoimmune Thyroid Diseases.
    Title: Analysis of Polymorphisms rs7093069-IL-2RA, rs7138803-FAIM2, and rs1748033-PADI4 in the Group of Adolescents With Autoimmune Thyroid Diseases.
  6. Interstitial serum albumin empowers osteosarcoma cells with FAIM2 transcription to obtain viability via dedifferentiation.
    Title: Interstitial serum albumin empowers osteosarcoma cells with FAIM2 transcription to obtain viability via dedifferentiation.
  7. Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.
    Title: Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.
  8. Loci near TMEM18 (rs6548238), CDKAL1 (rs7754840), and FAIM2 (rs7138803) may be associated with obesity-related indicators, and loci near TMEM18 (rs6548238) and FAIM2 (rs7138803) may increase susceptibility of concurrent type 2 diabetes associated with obesity.
    Title: Obesity-related loci in TMEM18, CDKAL1 and FAIM2 are associated with obesity and type 2 diabetes in Chinese Han patients.
  9. DCST1-AS1 up-regulates the expression of FAIM2 by up-regulating the expression of miR-1254, ultimately promoting the proliferation of hepatocellular carcinoma cells.
    Title: LncRNA DCST1-AS1 functions as a competing endogenous RNA to regulate FAIM2 expression by sponging miR-1254 in hepatocellular carcinoma.
  10. Faim2 up-regulation may contribute to the neuroprotective effects of low-dose erythropoietin in transient brain ischemia
    Title: Faim2 contributes to neuroprotection by erythropoietin in transient brain ischemia.
Submit: New GeneRIF Correction See all GeneRIFs (32)

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
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
EBI GWAS Catalog
Genome-wide association study of obsessive-compulsive disorder.
EBI GWAS Catalog
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
EBI GWAS Catalog
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium.
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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0950

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 apoptotic signaling pathway IEA
Inferred from Electronic Annotation
more info
  
involved_in cerebellar Purkinje cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cerebellar Purkinje cell layer development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cerebellar granular layer development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cerebellum development ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in negative regulation of apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of apoptotic signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within negative regulation of extrinsic apoptotic signaling pathway via death domain receptors IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neuron apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in response to ischemia IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in membrane raft IDA
Inferred from Direct Assay
more info
 PubMed 
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
protein lifeguard 2
Names
neural membrane protein 35
transmembrane BAX inhibitor motif-containing protein 2

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_012306.4 → NP_036438.2  protein lifeguard 2

    See identical proteins and their annotated locations for NP_036438.2

    Status: VALIDATED

    Source sequence(s)
    AC131157, BC000051
    Consensus CDS
    CCDS8791.1
    UniProtKB/Swiss-Prot
    A8K1W6, B3KR08, Q9BWQ8, Q9UJY9, Q9Y2F7
    Related
    ENSP00000321951.3, ENST00000320634.8
    Conserved Domains (1) summary
    cd10428
    Location:92 → 312
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    49866896..49903900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268730.4 → XP_005268787.1  protein lifeguard 2 isoform X1

    UniProtKB/TrEMBL
    F8W1L3
    Related
    ENSP00000446771.1, ENST00000552669.5
    Conserved Domains (1) summary
    cd10428
    Location:50 → 270
    LFG_like; Proteins similar to and including lifeguard (LFG), a putative regulator of apoptosis

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    49829908..49867294 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054371466.1 → XP_054227441.1  protein lifeguard 2 isoform X2

    UniProtKB/Swiss-Prot
    A8K1W6, B3KR08, Q9BWQ8, Q9UJY9, Q9Y2F7

  2. XM_054371467.1 → XP_054227442.1  protein lifeguard 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BWQ8.1 GenPept UniProtKB/Swiss-Prot:Q9BWQ8

Gene LinkOut

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