RNF185

Summary

RNF185 (ring finger protein 185, HGNC:26783) is a protein-coding gene on chromosome 22q12.2, encoding E3 ubiquitin-protein ligase RNF185 (Q96GF1). E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating ‘Lys-63’-linked polyubiquitination of BNIP1.

Enables ubiquitin binding activity; ubiquitin protein ligase activity; and ubiquitin-like protein conjugating enzyme binding activity. Involved in several processes, including positive regulation of ERAD pathway; protein ubiquitination; and proteolysis involved in protein catabolic process. Located in endoplasmic reticulum.

Source: NCBI Gene 91445 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_152267

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26783
Approved symbol	RNF185
Name	ring finger protein 185
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ38628
Ensembl gene	ENSG00000138942
Ensembl biotype	protein_coding
OMIM	620096
Entrez	91445

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000266252, ENST00000326132, ENST00000468921, ENST00000471384, ENST00000494514, ENST00000518626, ENST00000883456, ENST00000883457, ENST00000883458, ENST00000883459, ENST00000927744, ENST00000964265, ENST00000964266, ENST00000964267, ENST00000964268, ENST00000964269, ENST00000964270, ENST00000964271, ENST00000964272, ENST00000964273

RefSeq mRNA: 2 — MANE Select: NM_152267 NM_001135825, NM_152267

CCDS: CCDS13890, CCDS46689

Canonical transcript exons

ENST00000326132 — 7 exons

Exon	Start	End
ENSE00000935945	31196936	31196990
ENSE00001878834	31160182	31160303
ENSE00003501584	31195469	31195581
ENSE00003565247	31204489	31207019
ENSE00003684494	31201498	31201615
ENSE00003716602	31192684	31192702
ENSE00003719730	31187047	31187270

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 94.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1235 / max 114.2033, expressed in 1807 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
191767	18.1235	1807

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	94.33	silver quality
kidney epithelium	UBERON:0004819	92.77	silver quality
right lobe of liver	UBERON:0001114	92.51	gold quality
popliteal artery	UBERON:0002250	92.41	gold quality
tibial artery	UBERON:0007610	92.40	gold quality
aorta	UBERON:0000947	92.08	gold quality
upper arm skin	UBERON:0004263	92.05	silver quality
thoracic aorta	UBERON:0001515	91.71	gold quality
ascending aorta	UBERON:0001496	91.66	gold quality
descending thoracic aorta	UBERON:0002345	91.50	gold quality
lower esophagus	UBERON:0013473	91.36	gold quality
lower esophagus muscularis layer	UBERON:0035833	91.36	gold quality
tibialis anterior	UBERON:0001385	91.35	silver quality
smooth muscle tissue	UBERON:0001135	91.27	gold quality
prostate gland	UBERON:0002367	91.21	gold quality
lower esophagus mucosa	UBERON:0035834	91.19	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.14	gold quality
mucosa of stomach	UBERON:0001199	90.85	gold quality
skin of leg	UBERON:0001511	90.66	gold quality
right coronary artery	UBERON:0001625	90.45	gold quality
left ventricle myocardium	UBERON:0006566	90.37	silver quality
islet of Langerhans	UBERON:0000006	90.10	gold quality
right lobe of thyroid gland	UBERON:0001119	90.08	gold quality
esophagus	UBERON:0001043	90.07	gold quality
skin of abdomen	UBERON:0001416	89.99	gold quality
ganglionic eminence	UBERON:0004023	89.90	gold quality
embryo	UBERON:0000922	89.89	gold quality
ventricular zone	UBERON:0003053	89.80	gold quality
cardiac muscle of right atrium	UBERON:0003379	89.80	silver quality
liver	UBERON:0002107	89.69	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)

120 targeting RNF185, 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-6873-3P	100.00	71.42	2626
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4745-5P	99.98	65.95	1028
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-7162-3P	99.89	68.16	1682
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6875-3P	99.82	70.26	2983

Literature-anchored findings (GeneRIF, showing 7)

• Human BNIP1 colocalizes with RNF185 at mitochondria and is polyubiquitinated by RNF185 through K63-based ubiquitin linkage in vivo. (PMID:21931693)
• data thus identify RNF185 and RNF5 as a novel E3 ligase module that is central to the control of CFTR degradation. (PMID:24019521)
• these results indicate that RNF185 negatively regulates osteogenesis through the degradation of Dvl2 and down-regulation of canonical Wnt signaling pathway and suggest a possible therapeutic target in osteoporosis. (PMID:24727453)
• this study uncovers RNF185 as the first E3 ubiquitin ligase of cyclic GMP-AMP synthase (cGAS), shedding light on the regulation of cGAS activity in innate immune responses (PMID:28273161)
• increased RNF185 expression facilitated GC cell migration in vitro and promoted GC metastasis in vivo by downregulating JWA expression. (PMID:29481911)
• CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587. (PMID:35183197)
• RNF185 Control of COL3A1 Expression Limits Prostate Cancer Migration and Metastatic Potential. (PMID:37831068)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf185	ENSDARG00000032997
mus_musculus	Rnf185	ENSMUSG00000020448
rattus_norvegicus	Rnf185	ENSRNOG00000019325
drosophila_melanogaster	sordd1	FBGN0030693
drosophila_melanogaster	sordd2	FBGN0052581
drosophila_melanogaster	CG32847	FBGN0052847
caenorhabditis_elegans		WBGENE00004381

Paralogs (1): RNF5 (ENSG00000204308)

Protein

Protein identifiers

E3 ubiquitin-protein ligase RNF185 — Q96GF1 (reviewed: Q96GF1)

Alternative names: RING finger protein 185

All UniProt accessions (1): Q96GF1

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that regulates selective mitochondrial autophagy by mediating ‘Lys-63’-linked polyubiquitination of BNIP1. Acts in the endoplasmic reticulum (ER)-associated degradation (ERAD) pathway, which targets misfolded proteins that accumulate in the endoplasmic reticulum (ER) for ubiquitination and subsequent proteasome-mediated degradation. Protects cells from ER stress-induced apoptosis. Responsible for the cotranslational ubiquitination and degradation of CFTR in the ERAD pathway. Also acts as a regulator of the innate antiviral response by catalyzing ‘Lys-27’-linked polyubiquitination of CGAS at ‘Lys-173’ and ‘Lys-384’, thereby promoting CGAS cyclic GMP-AMP synthase activity. Preferentially associates with the E2 enzymes UBE2J1 and UBE2J2.

Subunit / interactions. Interacts with ATG5 and BNIP1.

Subcellular location. Mitochondrion outer membrane. Endoplasmic reticulum membrane.

Tissue specificity. Ubiquitously expressed.

Domain organisation. The RING-type zinc finger domain is responsible for E3 ubiquitin ligase activity.

Induction. Up-regulated by unfolded protein response (UPR) and endoplasmic reticulum (ER) stress triggered by thapsigargin or tunicamycin.

Pathway. Protein modification; protein ubiquitination.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96GF1-1	1	yes
Q96GF1-2	2

RefSeq proteins (2): NP_001129297, NP_689480* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR018957	Znf_C3HC4_RING-type	Domain
IPR045103	RNF5/RNF185-like	Family

Pfam: PF00097

UniProt features (14 total): mutagenesis site 3, region of interest 3, topological domain 2, transmembrane region 2, chain 1, splice variant 1, zinc finger region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96GF1-F1	69.91	0.22

Functional residue map

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

Mutagenesis-validated functional residues (3):

Position	Phenotype
39	abolished e3 ubiquitin-protein ligase activity and ability to regulate the cgas-sting pathway; when associated with a-79
39	decreased ubiquitin ligase activity.
79	abolished e3 ubiquitin-protein ligase activity and ability to regulate the cgas-sting pathway; when associated with a-39

Function

Pathways and Gene Ontology

Reactome pathways

13 pathways

ID	Pathway
R-HSA-382556	ABC-family protein mediated transport
R-HSA-5678895	Defective CFTR causes cystic fibrosis
R-HSA-901032	ER Quality Control Compartment (ERQC)
R-HSA-9931269	AMPK-induced ERAD and lysosome mediated degradation of PD-L1(CD274)
R-HSA-1643685	Disease
R-HSA-382551	Transport of small molecules
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-532668	N-glycan trimming in the ER and Calnexin/Calreticulin cycle
R-HSA-5619084	ABC transporter disorders
R-HSA-5619115	Disorders of transmembrane transporters
R-HSA-597592	Post-translational protein modification
R-HSA-901042	Calnexin/calreticulin cycle

MSigDB gene sets: 201 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_POSITIVE_REGULATION_OF_PROTEIN_CATABOLIC_PROCESS, GOBP_RESPONSE_TO_TYPE_I_INTERFERON, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS, GOBP_PROTEIN_AUTOUBIQUITINATION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS

GO Biological Process (15): ubiquitin-dependent protein catabolic process (GO:0006511), autophagy (GO:0006914), ERAD pathway (GO:0036503), protein K27-linked ubiquitination (GO:0044314), innate immune response (GO:0045087), positive regulation of innate immune response (GO:0045089), defense response to virus (GO:0051607), protein autoubiquitination (GO:0051865), transmembrane transport (GO:0055085), positive regulation of type I interferon-mediated signaling pathway (GO:0060340), positive regulation of ERAD pathway (GO:1904294), endoplasmic reticulum mannose trimming (GO:1904380), immune system process (GO:0002376), protein ubiquitination (GO:0016567), cGAS/STING signaling pathway (GO:0140896)

GO Molecular Function (9): zinc ion binding (GO:0008270), ubiquitin binding (GO:0043130), ubiquitin-like protein conjugating enzyme binding (GO:0044390), protein-containing complex binding (GO:0044877), ubiquitin protein ligase activity (GO:0061630), ubiquitin-protein transferase activity (GO:0004842), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (7): mitochondrial outer membrane (GO:0005741), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum quality control compartment (GO:0044322), cytoplasm (GO:0005737), mitochondrion (GO:0005739), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Transport of small molecules	1
ABC transporter disorders	1
Calnexin/calreticulin cycle	1
Regulation of PD-L1(CD274) Post-translational modification	1
Post-translational protein modification	1
Asparagine N-linked glycosylation	1
Disorders of transmembrane transporters	1
Disease	1
Metabolism of proteins	1
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein ubiquitination	2
binding	2
cytoplasm	2
intracellular membrane-bounded organelle	2
modification-dependent protein catabolic process	1
catabolic process	1
transmembrane transport	1
process utilizing autophagic mechanism	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
protein polyubiquitination	1
immune response	1
defense response to symbiont	1
positive regulation of response to biotic stimulus	1
positive regulation of defense response	1
positive regulation of response to external stimulus	1
innate immune response	1
regulation of innate immune response	1
positive regulation of immune response	1
defense response	1
response to virus	1
transport	1
cellular process	1
positive regulation of cytokine-mediated signaling pathway	1
positive regulation of innate immune response	1
type I interferon-mediated signaling pathway	1
regulation of type I interferon-mediated signaling pathway	1
ERAD pathway	1
positive regulation of proteasomal protein catabolic process	1
regulation of ERAD pathway	1
positive regulation of response to endoplasmic reticulum stress	1
protein alpha-1,2-demannosylation	1
endoplasmic reticulum quality control compartment	1
biological_process	1
protein modification by small protein conjugation	1
cytoplasmic pattern recognition receptor signaling pathway	1
transition metal ion binding	1
ubiquitin-like protein binding	1

Protein interactions and networks

STRING

1186 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF185	TMUB1	Q9BVT8	701
RNF185	TMUB2	Q71RG4	694
RNF185	TMEM259	Q4ZIN3	654
RNF185	AMFR	P26442	613
RNF185	TMEM129	A0AVI4	590
RNF185	ERLIN1	O75477	583
RNF185	RNF26	Q9BY78	571
RNF185	MUL1	Q969V5	539
RNF185	TRIM56	Q9BRZ2	538
RNF185	MARCHF5	Q9NX47	532
RNF185	TRIM41	Q8WV44	506
RNF185	FAM8A1	Q9UBU6	500
RNF185	MARCHF6	O60337	487
RNF185	RNF170	Q96K19	486
RNF185	RNF139	Q8WU17	472

IntAct

133 interactions, top by confidence:

A	B	Type	Score
UBE2E3	RNF185	psi-mi:“MI:0915”(physical association)	0.830
RNF185	UBE2E3	psi-mi:“MI:0915”(physical association)	0.830
RNF185	TMBIM6	psi-mi:“MI:0914”(association)	0.740
TMBIM6	RNF185	psi-mi:“MI:0915”(physical association)	0.740
ERLIN1	ERLIN2	psi-mi:“MI:0914”(association)	0.740
RNF185	YIPF2	psi-mi:“MI:0915”(physical association)	0.720
YIPF2	RNF185	psi-mi:“MI:0915”(physical association)	0.720
RNF5	RNF185	psi-mi:“MI:0915”(physical association)	0.670
RNF185	UBE2D1	psi-mi:“MI:0915”(physical association)	0.670
RNF185	UBE2D2	psi-mi:“MI:0915”(physical association)	0.670
RNF185	UBE2E2	psi-mi:“MI:0915”(physical association)	0.670
UBE2D4	RNF185	psi-mi:“MI:0915”(physical association)	0.670
UBE2D2	RNF185	psi-mi:“MI:0915”(physical association)	0.670
RNF185	UBE2D4	psi-mi:“MI:0915”(physical association)	0.670
UBE2D1	RNF185	psi-mi:“MI:0915”(physical association)	0.670
B3GAT3	GOLIM4	psi-mi:“MI:0914”(association)	0.640
CANX	PGRMC1	psi-mi:“MI:0914”(association)	0.570
RNF185	ARL6IP5	psi-mi:“MI:0915”(physical association)	0.560
CMTM5	RNF185	psi-mi:“MI:0915”(physical association)	0.560
RNF185	YIPF4	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (243): RNF185 (Two-hybrid), RNF185 (Two-hybrid), RNF185 (Two-hybrid), RNF185 (Two-hybrid), RNF185 (Two-hybrid), RNF185 (Two-hybrid), CMTM5 (Two-hybrid), RNF185 (Affinity Capture-RNA), RNF185 (Affinity Capture-MS), RNF185 (Biochemical Activity), UBE2D3 (Reconstituted Complex), UBE2J1 (Affinity Capture-Western), UBE2J2 (Affinity Capture-Western), DERL1 (Affinity Capture-Western), ERLIN2 (Affinity Capture-Western)

ESM2 similar proteins: B2RYN2, O08623, O35445, O43278, O43900, P93030, P98153, P98154, Q09463, Q13064, Q13501, Q1L8G6, Q29RU0, Q2KIL7, Q3TQF0, Q3U2C5, Q3UF64, Q568Y3, Q5M807, Q5RAG4, Q5RBA5, Q5REG4, Q5RF74, Q5RFK9, Q5XIL0, Q5ZIR9, Q60764, Q64337, Q6PC78, Q6ZPS6, Q80V91, Q80VL3, Q8C0J6, Q8K1S6, Q8N9I9, Q8NC42, Q8TEB7, Q8WWL2, Q91XF4, Q91YT2

Diamond homologs: A0A1L8FG46, A0A1L8FM16, B1AUE5, E7FDW2, O35445, O60683, O64425, P68907, P87176, Q09463, Q2KHN1, Q2TBT8, Q54S31, Q568Y3, Q5M807, Q5RFK9, Q5ZIR9, Q69ZS0, Q6PC78, Q8HXW8, Q91YT2, Q96GF1, Q99942, Q9P3U8, Q9SYU4, Q9UPQ7, Q9UUF0, Q9V8P9, O76064, P09309, Q2HJ46, Q4KLN8, Q5R4I2, Q803C1, Q80Z37, Q8VC56, Q9NS56, A2XW69, A2ZAC2, O75150

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF185	ubiquitination
RNF185	“up-regulates activity”	BNIP1	polyubiquitination
RNF185	“down-regulates quantity by destabilization”	DVL2	polyubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 102 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
Synthesis of active ubiquitin: roles of E1 and E2 enzymes	7	39.7×	1e-07
DAP12 signaling	5	28.3×	7e-05
E3 ubiquitin ligases ubiquitinate target proteins	5	14.9×	5e-04
Antigen processing: Ubiquitination & Proteasome degradation	14	8.0×	3e-07
Class A/1 (Rhodopsin-like receptors)	5	5.7×	1e-02
Peptide ligand-binding receptors	5	5.7×	1e-02
GPCR downstream signalling	7	4.7×	5e-03
Signaling by GPCR	7	4.3×	7e-03

GO biological processes:

GO term	Partners	Fold	FDR
protein K11-linked ubiquitination	6	26.4×	2e-05
protein monoubiquitination	5	19.3×	9e-04
protein K48-linked ubiquitination	10	18.9×	9e-08
protein K63-linked ubiquitination	5	15.0×	3e-03
protein polyubiquitination	8	10.4×	2e-04
ERAD pathway	5	10.2×	9e-03
ubiquitin-dependent protein catabolic process	11	9.2×	1e-05
proteasome-mediated ubiquitin-dependent protein catabolic process	9	5.3×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

962 predictions. Top by Δscore:

Variant	Effect	Δscore
22:31195467:A:AG	acceptor_gain	1.0000
22:31195467:AGT:A	acceptor_gain	1.0000
22:31195468:G:GG	acceptor_gain	1.0000
22:31195468:GTG:G	acceptor_gain	1.0000
22:31201493:CACA:C	acceptor_loss	1.0000
22:31201494:ACAG:A	acceptor_gain	1.0000
22:31201495:CA:C	acceptor_loss	1.0000
22:31201496:A:AT	acceptor_loss	1.0000
22:31201496:AG:A	acceptor_gain	1.0000
22:31201497:GG:G	acceptor_gain	1.0000
22:31201611:TCCAG:T	donor_loss	1.0000
22:31201613:CAGGT:C	donor_loss	1.0000
22:31201614:AGGT:A	donor_loss	1.0000
22:31201615:GGTA:G	donor_loss	1.0000
22:31201616:G:T	donor_loss	1.0000
22:31201617:T:A	donor_loss	1.0000
22:31204478:T:A	acceptor_gain	1.0000
22:31204485:CCA:C	acceptor_loss	1.0000
22:31204487:A:AG	acceptor_gain	1.0000
22:31204488:G:GA	acceptor_gain	1.0000
22:31204488:GC:G	acceptor_gain	1.0000
22:31204488:GCT:G	acceptor_gain	1.0000
22:31204488:GCTGT:G	acceptor_gain	1.0000
22:31160299:GGCAG:G	donor_gain	0.9900
22:31160300:GCAGG:G	donor_gain	0.9900
22:31160301:C:T	donor_gain	0.9900
22:31160304:G:GC	donor_loss	0.9900
22:31160305:T:G	donor_loss	0.9900
22:31192653:T:TA	acceptor_gain	0.9900
22:31195468:GT:G	acceptor_gain	0.9900

AlphaMissense

1261 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:31187209:T:A	C39S	1.000
22:31187209:T:C	C39R	1.000
22:31187210:G:A	C39Y	1.000
22:31187210:G:C	C39S	1.000
22:31187210:G:T	C39F	1.000
22:31187211:C:G	C39W	1.000
22:31187215:A:T	I41F	1.000
22:31187216:T:A	I41N	1.000
22:31187216:T:C	I41T	1.000
22:31187216:T:G	I41S	1.000
22:31187218:T:A	C42S	1.000
22:31187218:T:C	C42R	1.000
22:31187219:G:A	C42Y	1.000
22:31187219:G:C	C42S	1.000
22:31187219:G:T	C42F	1.000
22:31187220:C:G	C42W	1.000
22:31187222:T:C	L43S	1.000
22:31187231:C:A	A46D	1.000
22:31187243:T:A	V50D	1.000
22:31187246:T:A	I51N	1.000
22:31187248:A:C	S52R	1.000
22:31187250:C:A	S52R	1.000
22:31187250:C:G	S52R	1.000
22:31187254:T:A	C54S	1.000
22:31187254:T:C	C54R	1.000
22:31187255:G:A	C54Y	1.000
22:31187255:G:C	C54S	1.000
22:31187255:G:T	C54F	1.000
22:31187256:T:G	C54W	1.000
22:31187257:G:A	G55S	1.000

dbSNP variants (sampled 300 via entrez): RS1000000149 (22:31176778 G>A), RS1000072243 (22:31164249 G>A), RS1000130830 (22:31183084 C>T), RS1000130857 (22:31170314 G>A), RS1000269601 (22:31203233 C>T), RS1000414298 (22:31194296 G>C), RS1000478865 (22:31176742 C>A), RS1000532482 (22:31160118 G>A,T), RS1000562617 (22:31176497 T>A,C), RS1000671833 (22:31197271 A>C,G), RS1000742536 (22:31200450 C>T), RS1000773748 (22:31190863 A>G), RS1000789033 (22:31176577 C>T), RS1000848558 (22:31207275 A>G), RS1000876471 (22:31165781 T>C,G)

Disease associations

OMIM: gene MIM:620096 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST008151_57	Waist circumference	8.000000e-06
GCST008160_16	Waist circumference	8.000000e-06
GCST010135_20	Oily fish consumption	3.000000e-10
GCST010135_5	Oily fish consumption	1.000000e-15
GCST010140_12	Pork consumption	3.000000e-10
GCST010140_49	Pork consumption	1.000000e-15
GCST010142_11	Fish- and plant-related diet	1.000000e-11
GCST010142_79	Fish- and plant-related diet	3.000000e-08
GCST010241_339	Apolipoprotein A1 levels	4.000000e-08
GCST90002407_197	White blood cell count	6.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement
EFO:0004614	apolipoprotein A 1 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cupric oxide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
Sunitinib	increases expression	1
Calcitriol	increases expression	1
Cisplatin	increases expression	1
Curcumin	increases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Estradiol	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Smoke	decreases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cadmium Chloride	increases expression	1
Lactic Acid	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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