FAIM2

Fas apoptotic inhibitory molecule 2, the group of Transmembrane BAX inhibitor motif containing

Basic information

Region (hg38): 12:49866895-49904217

Links

ENSG00000135472 ∙ NCBI:23017 ∙ OMIM:604306 ∙ HGNC:17067 ∙ Uniprot:Q9BWQ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAIM2 gene.

• Inborn genetic diseases (5 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAIM2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in FAIM2

This is a list of pathogenic ClinVar variants found in the FAIM2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-49889117-G-A		not specified	Uncertain significance (Mar 23, 2023)
12-49889175-G-T		not specified	Likely benign (Dec 17, 2023)
12-49889186-C-T		not specified	Uncertain significance (Aug 22, 2023)
12-49897541-C-T		not specified	Uncertain significance (Jun 01, 2023)
12-49897572-G-A			Likely benign (Sep 01, 2023)
12-49898003-C-T		not specified	Uncertain significance (Sep 13, 2023)
12-49898007-G-A		not specified	Uncertain significance (Feb 05, 2024)
12-49898027-C-A		not specified	Uncertain significance (Jul 20, 2021)
12-49898067-C-T		not specified	Uncertain significance (Feb 05, 2024)
12-49901322-A-G		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAIM2	protein_coding	protein_coding	ENST00000320634	12	37322

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000870	0.986	125723	0	25	125748	0.0000994

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.59	117	177	0.662	0.00000945	2029
Missense in Polyphen		31	57.785	0.53647		665
Synonymous	0.00909	75	75.1	0.999	0.00000441	641
Loss of Function	2.18	10	20.7	0.483	0.00000103	225

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000466	0.000462
European (Non-Finnish)	0.0000974	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000666	0.0000653
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Antiapoptotic protein which protects cells uniquely from Fas-induced apoptosis. Regulates Fas-mediated apoptosis in neurons by interfering with caspase-8 activation. May play a role in cerebellar development by affecting cerebellar size, internal granular layer (IGL) thickness, and Purkinje cell (PC) development. {ECO:0000269|PubMed:10535980, ECO:0000269|PubMed:17635665}.
• Pathway: FAS (CD95) signaling pathway (Consensus)

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.480
• rvis_EVS: -0.29
• rvis_percentile_EVS: 32.94

Haploinsufficiency Scores

• pHI: 0.129
• hipred: Y
• hipred_score: 0.583
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.785

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Faim2
• Phenotype: homeostasis/metabolism phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); renal/urinary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: response to ischemia;apoptotic process;cerebellum development;cerebellar Purkinje cell layer development;cerebellar granular layer development;cerebellar Purkinje cell differentiation;negative regulation of apoptotic process;regulation of neuron apoptotic process;negative regulation of neuron apoptotic process;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors
• Cellular component: endoplasmic reticulum;Golgi apparatus;integral component of membrane;cell junction;membrane raft;postsynaptic membrane