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

Summary

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, Nov 2024]
Expression: Biased expression in brain (RPKM 125.6) and adrenal (RPKM 12.3) See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.12

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (49866896..49903900, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (49829908..49867294, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (50260679..50297683, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2.
Title: Variant-to-function analysis of the childhood obesity chr12q13 locus implicates rs7132908 as a causal variant within the 3' UTR of FAIM2.
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.
FAIM2 is correlated with metastasis of medulloblastoma through bioinformatics analysis.
Title: FAIM2 is correlated with metastasis of medulloblastoma through bioinformatics analysis.
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.
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.
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.
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.
Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.
Title: Genome-wide investigation of DNA methylation in congenital adrenal hyperplasia.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (33)

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 EBI GWAS CatalogPubMed
Genome-wide association study of obsessive-compulsive disorder. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. EBI GWAS Catalog EBI GWAS CatalogPubMed
NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

WI-16236 (e-PCR)
- UniSTS:14941

WI-15126 (e-PCR)
- UniSTS:46955

A005A36 (e-PCR)
- UniSTS:82817

RH104126 (e-PCR)
- UniSTS:98451

RH92688 (e-PCR)
- UniSTS:87532

FAIM2__7619 (e-PCR)
- UniSTS:466160

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in apoptotic signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	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 extrinsic apoptotic signaling pathway via death domain receptors	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	IBA Inferred from Biological aspect of Ancestor 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
located_in Golgi membrane	IDA Inferred from Direct Assay more info	PubMed
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)

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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

49866896..49903900 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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