FAF2

Fas associated factor family member 2, the group of UBX domain containing

Basic information

Region (hg38): 5:176447628-176510074

Previous symbols: [ "UBXD8" ]

Links

ENSG00000113194

∙ NCBI:23197 ∙ OMIM:616935 ∙ HGNC:24666 ∙ Uniprot:Q96CS3 ∙ 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 FAF2 gene.

not_specified (33 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAF2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014613.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			33 clinvar			33
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAF2	protein_coding	protein_coding	ENST00000261942	11	62447

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000886	125734	0	2	125736	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.52	144	258	0.558	0.0000150	2910
Missense in Polyphen		30	67.732	0.44292		699
Synonymous	0.390	86	90.7	0.948	0.00000468	837
Loss of Function	4.66	2	29.2	0.0686	0.00000173	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plays an important role in endoplasmic reticulum- associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins (PubMed:18711132, PubMed:24215460). By controlling the steady- state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway (PubMed:26692333). Involved in inhibition of lipid droplet degradation by binding to phospholipase PNPL2 and inhibiting its activity by promoting dissociation of PNPL2 from its endogenous activator, ABHD5 which inhibits the rate of triacylglycerol hydrolysis (PubMed:23297223). {ECO:0000269|PubMed:18711132, ECO:0000269|PubMed:23297223, ECO:0000269|PubMed:24215460, ECO:0000269|PubMed:26692333}.;
Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

pRec: 0.116

Intolerance Scores

loftool: 0.210
rvis_EVS: -0.43
rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

pHI: 0.567
hipred: Y
hipred_score: 0.783
ghis: 0.666

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: N
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.911

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Faf2
Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; liver/biliary system phenotype;

Gene ontology

Biological process: response to unfolded protein;ubiquitin-dependent ERAD pathway;retrograde protein transport, ER to cytosol;lipid droplet organization;negative regulation of catalytic activity;neutrophil degranulation
Cellular component: extracellular region;endoplasmic reticulum;lipid droplet;VCP-NPL4-UFD1 AAA ATPase complex;azurophil granule lumen
Molecular function: protein binding;ubiquitin protein ligase binding;lipase binding;ubiquitin binding;lipase inhibitor activity