FAF2 - Fas associated factor family member 2 Gene

Homo sapiens

Also known as ETEA; UBXD8; UBXN3B

Gene ID: 23197 | Gene type: protein coding

About FAF2

Cytogenetic location: 5q35.2 Genomic coordinates (GRCh38): 5:176,448,385-176,510,074 (from NCBI)

This gene has 6 transcripts (splice variants), 208 orthologues and 4 paralogues. Ubiquitous expression in testis (RPKM 15.6), thyroid (RPKM 13.8) and 25 other tissues.

Summary

The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to Apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]

FAF2 Products(1)

mRNA	Protein	Name
NM_014613.3	NP_055428.1	FAS-associated factor 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables lipase binding	IDA IDA: Inferred from direct assay	23297223	GOA
enables lipase inhibitor activity	IDA IDA: Inferred from direct assay	23297223	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	18711132	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	34739333	GOA
enables ubiquitin binding	IDA IDA: Inferred from direct assay	18775313	GOA
enables ubiquitin protein ligase binding	IDA IDA: Inferred from direct assay	18775313	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in ERAD pathway	IMP IMP: Inferred from mutant phenotype	24215460	GOA
acts upstream of or within lipid droplet organization	IMP IMP: Inferred from mutant phenotype	23297223	GOA
involved in retrograde protein transport, ER to cytosol	IMP IMP: Inferred from mutant phenotype	25660456	GOA
involved in stress granule disassembly	IDA IDA: Inferred from direct assay	34739333	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of VCP-NPL4-UFD1 AAA ATPase complex	IDA IDA: Inferred from direct assay	18775313	GOA
is active in endoplasmic reticulum	IDA IDA: Inferred from direct assay	34739333	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	23297223	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	14741744	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FAF2 Protein Structure

UBA_4

UBX

0
100
200
300
400
445 a.a.

Protein Preferred Names

Protein Names

FAS-associated factor 2

UBX domain containing 8

Related Diseases

Diseases

Alias

Dermatitis

Eczema	Skin Inflammation
Inflammatory Dermatosis

Vulvar Syringoma

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1

Ibmpfd1	Msp1
Multisystem Proteinopathy 1

Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	HMN8
Dhmn8	Neuropathy, Distal Hereditary Motor, Type Viii
Distal Hereditary Motor Neuronopathy Type 8	Autosomal Dominant Benign Distal Spinal Muscular Atrophy
Congenital Benign Spinal Muscular Atrophy With Contractures	Congenital Nonprogressive Spinal Muscular Atrophy
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive	Spinal Muscular Atrophy, Congenital Benign, With Contractures
Distal Hereditary Motor Neuropathy Type Viii	Neuronopathy, Distal Hereditary Motor, 8
Distal Spinal Muscular Atrophy, Congenital Non-Progressive	Spinal Muscular Atrophy Congenital Benign With Contractures

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04671	FAF2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FAF2	VGNC	VGNC:40568
Bos taurus	FAF2	VGNC	VGNC:28706
Rattus norvegicus	FAF2	RGD	RGD:1306577
Mus musculus	FAF2	MGD	MGI:1923827
Felis catus	FAF2	VGNC	VGNC:62041
Macaca mulatta	FAF2	VGNC	VGNC:72332

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