FAF2

Summary

FAF2 (Fas associated factor family member 2, HGNC:24666) is a protein-coding gene on chromosome 5q35.2, encoding FAS-associated factor 2 (Q96CS3). Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. It is a selective cancer dependency (DepMap: 59.8% of cell lines).

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.

Source: NCBI Gene 23197 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 61 total
• Cancer dependency (DepMap): dependent in 59.8% of screened cell lines
• MANE Select transcript: NM_014613

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24666
Approved symbol	FAF2
Name	Fas associated factor family member 2
Location	5q35.2
Locus type	gene with protein product
Status	Approved
Aliases	ETEA, KIAA0887, UBXN3B
Ensembl gene	ENSG00000113194
Ensembl biotype	protein_coding
OMIM	616935
Entrez	23197

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 11 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000261942, ENST00000504983, ENST00000506061, ENST00000510446, ENST00000510730, ENST00000513627, ENST00000862014, ENST00000862015, ENST00000862016, ENST00000862017, ENST00000862018, ENST00000862019, ENST00000862020, ENST00000933766, ENST00000933767

RefSeq mRNA: 1 — MANE Select: NM_014613 NM_014613

CCDS: CCDS34296

Canonical transcript exons

ENST00000261942 — 11 exons

Exon	Start	End
ENSE00000770060	176493999	176494084
ENSE00000829015	176500003	176500146
ENSE00001055501	176498914	176499085
ENSE00001129125	176492194	176492332
ENSE00001257606	176506768	176510074
ENSE00001257615	176448385	176448470
ENSE00003495669	176488951	176489027
ENSE00003539973	176479188	176479256
ENSE00003559035	176496486	176496663
ENSE00003642939	176486355	176486489
ENSE00003668050	176494184	176494275

Expression profiles

Bgee: expression breadth ubiquitous, 290 present calls, max score 95.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.4088 / max 217.9673, expressed in 1812 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
60413	29.0025	1811
60412	3.4064	1570

Top tissues by expression

298 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	95.75	gold quality
gingival epithelium	UBERON:0001949	94.46	gold quality
gingiva	UBERON:0001828	94.05	gold quality
tibia	UBERON:0000979	93.95	gold quality
caput epididymis	UBERON:0004358	93.75	gold quality
corpus epididymis	UBERON:0004359	93.56	gold quality
cauda epididymis	UBERON:0004360	93.43	gold quality
parietal pleura	UBERON:0002400	93.35	gold quality
pleura	UBERON:0000977	92.97	gold quality
visceral pleura	UBERON:0002401	92.73	gold quality
adrenal tissue	UBERON:0018303	92.54	gold quality
inferior olivary complex	UBERON:0002127	92.51	gold quality
islet of Langerhans	UBERON:0000006	92.48	gold quality
middle temporal gyrus	UBERON:0002771	92.35	gold quality
esophagus squamous epithelium	UBERON:0006920	92.19	gold quality
cartilage tissue	UBERON:0002418	91.89	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.65	gold quality
seminal vesicle	UBERON:0000998	91.46	gold quality
colonic mucosa	UBERON:0000317	91.27	gold quality
pigmented layer of retina	UBERON:0001782	91.25	gold quality
retina	UBERON:0000966	91.23	gold quality
squamous epithelium	UBERON:0006914	91.17	gold quality
epithelium of esophagus	UBERON:0001976	91.13	gold quality
superficial temporal artery	UBERON:0001614	90.82	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	90.79	gold quality
Brodmann (1909) area 23	UBERON:0013554	90.78	gold quality
hair follicle	UBERON:0002073	90.75	silver quality
stromal cell of endometrium	CL:0002255	90.44	gold quality
ventricular zone	UBERON:0003053	90.42	gold quality
calcaneal tendon	UBERON:0003701	90.35	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

193 targeting FAF2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 59.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 14)

• ETEA may play a role in the regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients (PMID:12372427)
• These findings provide evidence for conserved ubiquitination pathways regulating the RasGAP proteins Ira2 (in yeast) and neurofibromin (in humans). (PMID:20160012)
• These results suggest that Ubxd8 acts as a brake that limits triglyceride synthesis, and this brake is released when its structure is altered by exposure to unsaturated fatty acids. (PMID:21115839)
• These results indicate that ApoB after lipidation is dislocated from the ER lumen to the LD surface for proteasomal degradation and that Derlin-1 and UBXD8 are engaged in the predislocation and postdislocation steps, respectively. (PMID:22238364)
• Ubx2 and Ubxd8 regulates lipid droplet homeostasis. (PMID:22454508)
• UBXD8-mediated recruitment of p97/VCP to LDs increases lipid droplet (LD) size by inhibiting the activity of adipose triglyceride lipase (ATGL), the rate-limiting enzyme in triacylglycerol hydrolysis. (PMID:23297223)
• the UAS domain of Ubxd8 mediates it’s polymerization upon interaction with long-chain unsaturated fatty acids (PMID:23720822)
• role of UBXD8 in cellular responses to excess fatty acids (PMID:24378746)
• that newly synthesized UBXD8 is post-translationally inserted into discrete ER subdomains by a mechanism requiring cytosolic PEX19 and membrane-integrated PEX3, proteins hitherto exclusively implicated in peroxisome biogenesis (PMID:27295553)
• UBXD8 is necessary for sterol-stimulated dislocation of ubiquitylated HMGCR from the endoplasmic reticulum membrane en route to proteasomal degradation, a function dependent on its UBX domain. (PMID:28882874)
• We present physiological evidence that UBXN3B positively regulates stimulator-of-interferon genes (STING) signaling. Mechanistic studies demonstrate that UBXN3B interacts with both STING and its E3 ligase TRIM56, and facilitates STING ubiquitination, dimerization, trafficking, and consequent recruitment and phosphorylation of TBK1. (PMID:29899553)
• Ubiquitination of G3BP1 mediates stress granule disassembly in a context-specific manner. (PMID:34739333)
• UBXN3B Controls Immunopathogenesis of Arthritogenic Alphaviruses by Maintaining Hematopoietic Homeostasis. (PMID:36377866)
• Role of ubiquitin regulatory X domaincontaining protein 3B in the development of hepatocellular carcinoma (Review). (PMID:36799187)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	faf2	ENSDARG00000052374
mus_musculus	Faf2	ENSMUSG00000025873
rattus_norvegicus	Faf2	ENSRNOG00000017607
drosophila_melanogaster	Faf2	FBGN0025608
caenorhabditis_elegans		WBGENE00010433

Paralogs (4): UBXN8 (ENSG00000104691), UBXN10 (ENSG00000162543), UBXN7 (ENSG00000163960), FAF1 (ENSG00000185104)

Protein

Protein identifiers

FAS-associated factor 2 — Q96CS3 (reviewed: Q96CS3)

Alternative names: UBX domain-containing protein 3B, UBX domain-containing protein 8

All UniProt accessions (2): Q96CS3, D6RBG6

UniProt curated annotations — full annotation on UniProt →

Function. Plays an important role in endoplasmic reticulum-associated degradation (ERAD) that mediates ubiquitin-dependent degradation of misfolded endoplasmic reticulum proteins. By controlling the steady-state expression of the IGF1R receptor, indirectly regulates the insulin-like growth factor receptor signaling pathway. 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. Involved in stress granule disassembly: associates with ubiquitinated G3BP1 in response to heat shock, thereby promoting interaction between ubiquitinated G3BP1 and VCP, followed by G3BP1 extraction from stress granules and stress granule disassembly.

Subunit / interactions. Identified in a complex that contains SEL1L, OS9, FAF2/UBXD8, UBE2J1/UBC6E and AUP1. Interacts with YOD1. Interacts (via N-terminus) with UBQLN2 (via C-terminus). Interacts with PNPLA2 and UBAC2. Interacts with ZFAND2B; probably through VCP. Interacts with LMBR1L.

Subcellular location. Cytoplasm. Lipid droplet. Endoplasmic reticulum.

Tissue specificity. Broadly expressed, with highest levels in brain.

Miscellaneous. Up-regulated in T-cells and eosinophils from patients with atopic dermatitis.

RefSeq proteins (1): NP_055428* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001012	UBX_dom	Domain
IPR006577	UAS	Domain
IPR009060	UBA-like_sf	Homologous_superfamily
IPR029071	Ubiquitin-like_domsf	Homologous_superfamily
IPR036249	Thioredoxin-like_sf	Homologous_superfamily
IPR049483	FAF1_2-like_UAS	Domain
IPR050730	UBX_domain-protein	Family
IPR054109	UBA_8	Domain

Pfam: PF00789, PF21021, PF22566

UniProt features (12 total): helix 3, domain 2, modified residue 2, initiator methionine 1, chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2DAM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96CS3-F1	85.46	0.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (2): 2, 167

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-6798695	Neutrophil degranulation
R-HSA-8980692	RHOA GTPase cycle

MSigDB gene sets: 197 (showing top): GOBP_ENDOPLASMIC_RETICULUM_TO_CYTOSOL_TRANSPORT, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOCC_SECRETORY_GRANULE, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TATTATA_MIR374, ATGCAGT_MIR217, GTGCCTT_MIR506, WANG_LMO4_TARGETS_DN, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, PETRETTO_LEFT_VENTRICLE_MASS_QTL_CIS_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, GOBP_PROTEIN_RNA_COMPLEX_DISASSEMBLY

GO Biological Process (7): response to unfolded protein (GO:0006986), retrograde protein transport, ER to cytosol (GO:0030970), lipid droplet organization (GO:0034389), stress granule disassembly (GO:0035617), ERAD pathway (GO:0036503), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), proteasomal protein catabolic process (GO:0010498)

GO Molecular Function (6): protein-macromolecule adaptor activity (GO:0030674), ubiquitin protein ligase binding (GO:0031625), lipase binding (GO:0035473), ubiquitin binding (GO:0043130), lipase inhibitor activity (GO:0055102), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), endoplasmic reticulum (GO:0005783), lipid droplet (GO:0005811), VCP-NPL4-UFD1 AAA ATPase complex (GO:0034098), azurophil granule lumen (GO:0035578), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Innate Immune System	1
RHO GTPase cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
proteasomal protein catabolic process	2
cellular anatomical structure	2
response to topologically incorrect protein	1
protein exit from endoplasmic reticulum	1
ERAD pathway	1
endoplasmic reticulum to cytosol transport	1
organelle organization	1
protein-RNA complex disassembly	1
organelle disassembly	1
response to endoplasmic reticulum stress	1
response to chemical	1
ubiquitin-dependent protein catabolic process	1
protein catabolic process	1
protein binding	1
molecular adaptor activity	1
ubiquitin-like protein ligase binding	1
enzyme binding	1
ubiquitin-like protein binding	1
enzyme inhibitor activity	1
lipase activity	1
binding	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
endoplasmic reticulum membrane	1
UFD1-NPL4 complex	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
vacuolar lumen	1
secretory granule lumen	1
azurophil granule	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1999 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAF2	AUP1	Q9Y679	992
FAF2	VCP	P55072	980
FAF2	DERL2	Q9GZP9	975
FAF2	SEL1L	Q9UBV2	966
FAF2	OS9	Q13438	947
FAF2	SYVN1	Q86TM6	929
FAF2	UBE2J1	Q9Y385	929
FAF2	UFD1	Q92890	902
FAF2	UBAC2	Q8NBM4	898
FAF2	NPLOC4	Q8TAT6	874
FAF2	AMFR	P26442	864
FAF2	CANX	P27824	846
FAF2	UBXN4	Q92575	825
FAF2	PNPLA2	Q96AD5	819
FAF2	UBXN7	O94888	801

IntAct

208 interactions, top by confidence:

A	B	Type	Score
FAF2	VCP	psi-mi:“MI:0915”(physical association)	0.870
FAF2	VCP	psi-mi:“MI:0914”(association)	0.870
FAF2	VCP	psi-mi:“MI:2364”(proximity)	0.870
VCP	FAF2	psi-mi:“MI:2364”(proximity)	0.870
SEL1L	OS9	psi-mi:“MI:0914”(association)	0.860
GET4	GET3	psi-mi:“MI:0914”(association)	0.800
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
UBAC2	FAF2	psi-mi:“MI:0915”(physical association)	0.710
UBAC2	FAF2	psi-mi:“MI:0914”(association)	0.710
FAF2	UBAC2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
VCP	UBXN8	psi-mi:“MI:0914”(association)	0.690
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640

BioGRID (747): FAF2 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), NF1 (Affinity Capture-Western), FAF2 (Affinity Capture-Western), FAF2 (Reconstituted Complex), NF1 (Biochemical Activity), UBE2D1 (Reconstituted Complex), UBC (Affinity Capture-Western), FAF2 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), FAF2 (Affinity Capture-MS), FAF2 (Affinity Capture-MS)

ESM2 similar proteins: A0JPP7, E9Q4Z2, F1N2W9, F1QDI9, O12940, O35815, O60784, O70593, O88746, O88978, O88984, O95453, P54252, P54731, P58797, P69341, Q0VGM9, Q1RMR5, Q28BP9, Q2HJD0, Q2T9Z1, Q32LM2, Q3TDN2, Q5BK32, Q5R752, Q5RC51, Q5RJZ1, Q68FJ8, Q6AZH6, Q6GQ69, Q6H1L8, Q6R005, Q6TH22, Q7ZU92, Q7ZYA7, Q80W98, Q8BJU0, Q8CFK2, Q8UUU2, Q8VD33

Diamond homologs: F4JPR7, O74498, Q28BP9, Q2HJD0, Q3TDN2, Q5BK32, Q6AZH6, Q96CS3, Q9M0N1, Q6GQ69, P34631, P54731, Q2TBH5, Q924K2, Q9C5G7, Q9QZ49, Q9UNN5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SMURF1	unknown	FAF2	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 216 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
ER Quality Control Compartment (ERQC)	5	19.0×	6e-04
Defective CFTR causes cystic fibrosis	12	18.4×	1e-09
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	6	17.8×	1e-04
AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)	11	14.9×	6e-08
Hh mutants are degraded by ERAD	8	13.6×	2e-05
Hedgehog ligand biogenesis	8	11.8×	6e-05
Signaling by FGFR1 in disease	5	10.2×	9e-03
ABC-family protein mediated transport	12	10.2×	6e-07

GO biological processes:

GO term	Partners	Fold	FDR
retrograde protein transport, ER to cytosol	6	32.9×	1e-05
ERAD pathway	15	15.0×	1e-10
establishment of protein localization	5	11.9×	8e-03
lactation	5	11.6×	9e-03
endoplasmic reticulum unfolded protein response	7	11.4×	1e-03
autophagosome assembly	8	9.9×	7e-04
transmembrane transport	8	7.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

61 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1474 predictions. Top by Δscore:

Variant	Effect	Δscore
5:176453430:G:GT	donor_gain	1.0000
5:176479186:A:AG	acceptor_gain	1.0000
5:176479186:A:AT	acceptor_loss	1.0000
5:176479186:AG:A	acceptor_gain	1.0000
5:176479187:G:A	acceptor_gain	1.0000
5:176479187:G:GG	acceptor_gain	1.0000
5:176479187:GGA:G	acceptor_gain	1.0000
5:176479187:GGAT:G	acceptor_gain	1.0000
5:176479187:GGATC:G	acceptor_gain	1.0000
5:176479252:TAGAG:T	donor_loss	1.0000
5:176479253:AGAG:A	donor_loss	1.0000
5:176479254:GAG:G	donor_gain	1.0000
5:176479255:AGG:A	donor_loss	1.0000
5:176479256:GGTAT:G	donor_loss	1.0000
5:176479257:GTATA:G	donor_loss	1.0000
5:176479258:T:A	donor_loss	1.0000
5:176479266:G:GT	donor_gain	1.0000
5:176493994:CACA:C	acceptor_loss	1.0000
5:176493995:ACAG:A	acceptor_gain	1.0000
5:176493996:CAGG:C	acceptor_loss	1.0000
5:176493997:A:AG	acceptor_gain	1.0000
5:176493997:AG:A	acceptor_gain	1.0000
5:176493997:AGGCA:A	acceptor_loss	1.0000
5:176493998:G:GA	acceptor_gain	1.0000
5:176493998:GG:G	acceptor_gain	1.0000
5:176493998:GGC:G	acceptor_gain	1.0000
5:176493998:GGCA:G	acceptor_gain	1.0000
5:176493998:GGCAC:G	acceptor_gain	1.0000
5:176494080:TGTCG:T	donor_gain	1.0000
5:176494081:GTCG:G	donor_gain	1.0000

AlphaMissense

2922 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:176479192:T:C	L23P	1.000
5:176492318:G:A	G157R	1.000
5:176492318:G:C	G157R	1.000
5:176494003:T:C	L163P	1.000
5:176494011:G:C	A166P	1.000
5:176494012:C:A	A166D	1.000
5:176494033:T:C	L173P	1.000
5:176494039:T:A	V175D	1.000
5:176494239:T:A	W209R	1.000
5:176494239:T:C	W209R	1.000
5:176494266:G:A	G218R	1.000
5:176494266:G:C	G218R	1.000
5:176494267:G:A	G218E	1.000
5:176494267:G:T	G218V	1.000
5:176496488:T:C	S222P	1.000
5:176496516:C:A	P231Q	1.000
5:176496525:C:A	A234D	1.000
5:176496552:T:G	M243R	1.000
5:176496567:G:C	R248P	1.000
5:176496597:T:C	L258P	1.000
5:176496609:T:C	L262P	1.000
5:176498953:G:C	Q293H	1.000
5:176498953:G:T	Q293H	1.000
5:176498960:G:C	A296P	1.000
5:176498972:T:C	S300P	1.000
5:176498976:T:C	L301P	1.000
5:176498981:G:C	A303P	1.000
5:176448457:T:C	L17P	0.999
5:176448466:T:C	F20S	0.999
5:176479231:T:C	L36S	0.999

dbSNP variants (sampled 300 via entrez): RS1000025732 (5:176452068 T>C), RS1000057536 (5:176484009 A>C,G,T), RS1000156958 (5:176499152 A>C), RS1000203472 (5:176489942 T>C), RS1000226882 (5:176448361 G>A,C), RS1000254186 (5:176490125 T>A,C), RS1000320546 (5:176469266 G>A), RS1000326477 (5:176493295 T>A), RS1000394524 (5:176463525 CT>C,CTT), RS1000419304 (5:176454887 A>G), RS1000450371 (5:176455168 G>A), RS1000505413 (5:176467456 G>A,C), RS1000537348 (5:176474479 A>G), RS1000554753 (5:176508994 T>C), RS1000654997 (5:176502816 G>A)

Disease associations

OMIM: gene MIM:616935 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003898_17	Cisplatin-induced ototoxicity	9.000000e-06
GCST011639_3	Cirrhosis (alcohol related)	1.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006951	ototoxicity

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects expression, increases expression	2
bisphenol F	increases expression	1
NMS-873	increases reaction, affects binding	1
testosterone enanthate	affects expression	1
bisphenol A	decreases expression	1
tetrahydropalmatine	decreases expression	1
cobaltous chloride	increases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
LDN 193189	affects cotreatment, increases expression	1
bisphenol AF	increases expression	1
Vorinostat	decreases expression	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Ivermectin	decreases expression	1
Methotrexate	increases expression	1
Rotenone	decreases expression	1
Silver	increases expression	1
Smoke	decreases expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	increases expression	1
Copper Sulfate	increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_F1PR	HyCyte HeLa KO-hFAF2	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.