RNF169

Summary

RNF169 (ring finger protein 169, HGNC:26961) is a protein-coding gene on chromosome 11q13.4, encoding E3 ubiquitin-protein ligase RNF169 (Q8NCN4). Probable E3 ubiquitin-protein ligase that acts as a regulator of double-strand breaks (DSBs) repair following DNA damage.

Enables K63-linked polyubiquitin modification-dependent protein binding activity; nucleosome binding activity; and ubiquitin-modified histone reader activity. Involved in double-strand break repair via homologous recombination and negative regulation of double-strand break repair. Located in cytosol; nuclear lumen; and site of double-strand break.

Source: NCBI Gene 254225 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 115 total
• MANE Select transcript: NM_001098638

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26961
Approved symbol	RNF169
Name	ring finger protein 169
Location	11q13.4
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1991
Ensembl gene	ENSG00000166439
Ensembl biotype	protein_coding
OMIM	618650
Entrez	254225

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000299563, ENST00000527301, ENST00000911267

RefSeq mRNA: 1 — MANE Select: NM_001098638 NM_001098638

CCDS: CCDS41691

Canonical transcript exons

ENST00000299563 — 6 exons

Exon	Start	End
ENSE00001102957	74834676	74834775
ENSE00001103019	74817596	74817714
ENSE00001103033	74810184	74810330
ENSE00001243141	74789626	74789699
ENSE00001243149	74835546	74842413
ENSE00001243156	74748849	74749382

Expression profiles

Bgee: expression breadth ubiquitous, 249 present calls, max score 94.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.1671 / max 868.3864, expressed in 1809 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
115856	18.7935	1802
115858	5.3736	1554

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
epithelial cell of pancreas	CL:0000083	94.58	silver quality
amniotic fluid	UBERON:0000173	92.90	gold quality
oviduct epithelium	UBERON:0004804	91.69	gold quality
esophagus squamous epithelium	UBERON:0006920	91.14	gold quality
upper arm skin	UBERON:0004263	90.77	silver quality
cartilage tissue	UBERON:0002418	89.32	gold quality
epithelium of nasopharynx	UBERON:0001951	89.31	gold quality
calcaneal tendon	UBERON:0003701	88.18	gold quality
trabecular bone tissue	UBERON:0002483	87.71	gold quality
oral cavity	UBERON:0000167	87.48	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	87.23	silver quality
epithelium of mammary gland	UBERON:0003244	87.18	gold quality
mammary duct	UBERON:0001765	87.08	gold quality
layer of synovial tissue	UBERON:0007616	87.03	gold quality
deltoid	UBERON:0001476	86.51	silver quality
endothelial cell	CL:0000115	86.40	gold quality
ventricular zone	UBERON:0003053	86.33	gold quality
tendon	UBERON:0000043	85.75	gold quality
germinal epithelium of ovary	UBERON:0001304	85.56	gold quality
monocyte	CL:0000576	85.54	gold quality
nasal cavity epithelium	UBERON:0005384	85.51	silver quality
quadriceps femoris	UBERON:0001377	85.44	silver quality
colonic epithelium	UBERON:0000397	85.41	gold quality
leukocyte	CL:0000738	85.21	gold quality
bone marrow	UBERON:0002371	85.08	gold quality
saphenous vein	UBERON:0007318	84.91	gold quality
bone marrow cell	CL:0002092	84.44	gold quality
kidney epithelium	UBERON:0004819	84.34	silver quality
vastus lateralis	UBERON:0001379	84.32	silver quality
superficial temporal artery	UBERON:0001614	84.25	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.89

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

287 targeting RNF169, 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-4776-3P	100.00	68.73	1340
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-181A-5P	99.99	72.96	2995

Literature-anchored findings (GeneRIF, showing 8)

• results show that RNF169 functions in a noncanonical fashion to harness RNF168-mediated protein recruitment to DSB-containing chromatin, thereby contributing to regulation of DSB repair pathway utilization. (PMID:22492721)
• RNF169 as a component in DNA damage signal transduction and adds to the complexity of regulatory ubiquitylation in genome stability maintenance. (PMID:22733822)
• RNF168, its paralog RNF169, RAD18, and the BRCA1-interacting RAP80 protein accumulate at DNA double strand break sites through the use of bipartite modules composed of ubiquitin binding domains. (PMID:22742833)
• USP7 is RNF169 interacting protein.Expression of USP7 and RNF169 positively correlated in breast cancer. (PMID:28325877)
• The authors establish that RNF169 binds to ubiquitylated histone H2A-Lys13/Lys15 in a manner that involves its canonical ubiquitin-binding helix and a pair of arginine-rich motifs that interact with the nucleosome acidic patch. (PMID:28406400)
• Ubiquitin ligases RNF168, RNF169, and RAD18 specifically bind histone H2A Lys13/15-ubiquitylated nucleosomes. 53BP1 chromatin recruitment may be activated by RNF168 and blocked by RNF169 and RAD18. (PMID:28506460)
• results highlight the interplay of RNF169 with 53BP1 in fine-tuning choice of DSB repair pathways. (PMID:30104380)
• A comprehensive proteomics-based interaction screen that links DYRK1A to RNF169 and to the DNA damage response. (PMID:30979931)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	rnf169	ENSDARG00000042825
mus_musculus	Rnf169	ENSMUSG00000058761
rattus_norvegicus	Rnf169	ENSRNOG00000026408
caenorhabditis_elegans		WBGENE00011366

Paralogs (1): RNF168 (ENSG00000163961)

Protein

Protein identifiers

E3 ubiquitin-protein ligase RNF169 — Q8NCN4 (reviewed: Q8NCN4)

Alternative names: RING finger protein 169, RING-type E3 ubiquitin transferase RNF169

All UniProt accessions (2): Q8NCN4, H0YEQ1

UniProt curated annotations — full annotation on UniProt →

Function. Probable E3 ubiquitin-protein ligase that acts as a regulator of double-strand breaks (DSBs) repair following DNA damage. Functions in a non-canonical fashion to harness RNF168-mediated protein recruitment to DSB-containing chromatin, thereby contributing to regulation of DSB repair pathway utilization. Once recruited to DSB repair sites by recognizing and binding ubiquitin catalyzed by RNF168, competes with TP53BP1 and BRCA1 for association with RNF168-modified chromatin, thereby favouring homologous recombination repair (HRR) and single-strand annealing (SSA) instead of non-homologous end joining (NHEJ) mediated by TP53BP1. E3 ubiquitin-protein ligase activity is not required for regulation of DSBs repair.

Subunit / interactions. Interacts with DYRK1B.

Subcellular location. Chromosome. Nucleus. Nucleoplasm.

Post-translational modifications. Phosphorylated by DYRK1A; phosphorylation increases RNF169 ability to block accumulation of TP53BP1 at the DSB sites.

Domain organisation. The MIU motif (motif interacting with ubiquitin) mediates the interaction with both ‘Lys-48’- and ‘Lys-63’-linked ubiquitin chains. The UMI motif also mediates interaction with ubiquitin. The specificity for different types of ubiquitin is mediated by juxtaposition of ubiquitin-binding motifs (MIU and UMI motifs) with LR motifs (LRMs).

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the RNF169 family.

RefSeq proteins (1): NP_001092108* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR051657	RNF168/RNF169_E3_ubiq-ligase	Family

Pfam: PF13920

UniProt features (38 total): modified residue 12, mutagenesis site 8, compositionally biased region 5, region of interest 4, cross-link 3, short sequence motif 3, chain 1, zinc finger region 1, helix 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5GG4	X-RAY DIFFRACTION	3.11
5VEY	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NCN4-F1	55.21	0.05

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 (15): 12, 247, 249, 339, 368, 403, 409, 410, 485, 554, 644, 693, 286, 362, 511

Mutagenesis-validated functional residues (8):

Position	Phenotype
68	does not affect recruitment to dsbs nor ability to inhibit dsbs repair.
368	about 90% loss of phosphorylation by dyrk1a; when associated with a-403.
403	about 90% loss of phosphorylation by dyrk1a; when associated with a-368.
673	abolishes ubiquitin-binding.
689	impairs recruitment to dsbs.
691	impairs recruitment to dsbs.
697	impairs recruitment to dsbs.
699–700	does not affect ubiquitin-binding but abolishes recruitment to dsbs.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_NEGATIVE_REGULATION_OF_DNA_REPAIR, chr11q13, GOBP_REGULATION_OF_DNA_REPAIR, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, GOBP_RECOMBINATIONAL_REPAIR, MARTORIATI_MDM4_TARGETS_FETAL_LIVER_UP, GOMF_CHROMATIN_BINDING, GOCC_NUCLEAR_BODY, GOCC_NUCLEOLUS

GO Biological Process (8): double-strand break repair via homologous recombination (GO:0000724), double-strand break repair (GO:0006302), DNA damage response (GO:0006974), protein ubiquitination (GO:0016567), negative regulation of double-strand break repair (GO:2000780), DNA repair (GO:0006281), double-strand break repair via nonhomologous end joining (GO:0006303), chromatin organization (GO:0006325)

GO Molecular Function (9): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), nucleosome binding (GO:0031491), ubiquitin protein ligase activity (GO:0061630), ubiquitin-modified histone reader activity (GO:0061649), K63-linked polyubiquitin modification-dependent protein binding (GO:0070530), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytosol (GO:0005829), nuclear body (GO:0016604), site of double-strand break (GO:0035861), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
double-strand break repair	3
intracellular membraneless organelle	3
nuclear lumen	2
cellular anatomical structure	2
recombinational repair	1
DNA repair	1
cellular response to stress	1
protein modification by small protein conjugation	1
negative regulation of DNA repair	1
regulation of double-strand break repair	1
DNA metabolic process	1
DNA damage response	1
cellular component organization	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
chromatin binding	1
protein-containing complex binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
ubiquitin-modified protein reader activity	1
histone reader activity	1
polyubiquitin modification-dependent protein binding	1
binding	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
nucleoplasm	1
site of DNA damage	1

Protein interactions and networks

STRING

1026 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF169	RAD18	Q9NS91	727
RNF169	TP53BP1	Q12888	704
RNF169	RNF168	Q8IYW5	701
RNF169	RNF8	O76064	679
RNF169	H2AC19	P20670	659
RNF169	H2AC20	Q16777	658
RNF169	USP7	Q93009	656
RNF169	MDC1	Q14676	651
RNF169	FAM117B	Q6P1L5	624
RNF169	DYRK1A	Q13627	606
RNF169	UIMC1	Q96RL1	595
RNF169	DYRK1B	Q9Y463	590
RNF169	FAM117A	Q9C073	541
RNF169	TROAP	Q12815	517
RNF169	SLF1	Q9BQI6	515

IntAct

62 interactions, top by confidence:

A	B	Type	Score
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.730
DYRK1A	RB1	psi-mi:“MI:0914”(association)	0.670
RNF169	HOOK2	psi-mi:“MI:0915”(physical association)	0.560
HSF2BP	RNF169	psi-mi:“MI:0915”(physical association)	0.560
GOLGA2	RNF169	psi-mi:“MI:0915”(physical association)	0.560
PIBF1	RNF169	psi-mi:“MI:0915”(physical association)	0.560
RNF169	CEP70	psi-mi:“MI:0915”(physical association)	0.560
KLHDC2	PFDN1	psi-mi:“MI:0914”(association)	0.530
DYRK1B	BMAL1	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
USP7	STIL	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
DCAF7	DIAPH1	psi-mi:“MI:0914”(association)	0.350
IL16	CAMK1	psi-mi:“MI:0914”(association)	0.350
ARHGEF19	NUP42	psi-mi:“MI:0914”(association)	0.350
FNTA	PPIF	psi-mi:“MI:0914”(association)	0.350
HTRA4	PSMD12	psi-mi:“MI:0914”(association)	0.350
DYRK1A	SEC16A	psi-mi:“MI:0914”(association)	0.350
DYRK1B	POM121C	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
HMGA1	SUPT5H	psi-mi:“MI:0914”(association)	0.350
NUCKS1	SMARCA5	psi-mi:“MI:0914”(association)	0.350
SLC7A6	DDX46	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
DCAF7	SOWAHB	psi-mi:“MI:0914”(association)	0.350
AFG2A	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (122): RNF169 (Affinity Capture-MS), RNF169 (Reconstituted Complex), RNF169 (Proximity Label-MS), RNF169 (Proximity Label-MS), RNF169 (Affinity Capture-MS), RNF169 (Proximity Label-MS), RNF169 (Affinity Capture-MS), RNF169 (Affinity Capture-MS), RNF169 (Affinity Capture-MS), RNF169 (Co-crystal Structure), USP7 (Affinity Capture-Western), DYRK1A (Affinity Capture-Western), DYRK1B (Affinity Capture-MS), DYRK1A (Affinity Capture-MS), USP7 (Affinity Capture-MS)

ESM2 similar proteins: A0A0A6YY25, A6NGG8, A6X8Z5, B2RQL2, B2RXH4, D3ZMK9, D3ZUE1, E9Q7F2, O08696, O14513, P59598, P97691, Q05860, Q05AH6, Q08050, Q0GGX2, Q0VET5, Q13029, Q2M1Z3, Q3U0P1, Q571I4, Q5PSV9, Q5SSG4, Q5U2M8, Q5VV67, Q63755, Q66H04, Q68DA7, Q69ZL1, Q6DIA7, Q6JPI3, Q6P1D7, Q6PAC4, Q6PG16, Q71F56, Q76N32, Q811R2, Q86YN6, Q86YV5, Q8BJS7

Diamond homologs: B0BLU1, B2RYR0, D3YY23, E1BD59, E7FAP1, Q0IIM1, Q17RB8, Q1L5Z9, Q2YEM9, Q496Y0, Q5C8T8, Q6INS5, Q7T308, Q80XJ2, Q810I2, Q8HXH0, Q8IYW5, Q8NCN4, E9Q7F2, F1MRW8, P19474, P29129, Q0PF16, Q1ACD5, Q1L721, Q2YEN0, Q2YEN2, Q587N6, Q587N7, Q5BN31, Q5C8U1, Q5C8U3, Q5C8U4, Q5D7H7, Q5D7H8, Q5D7I0, Q5D7I1, Q5D7I2, Q5D7I3, Q5D7I5

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF169	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	5	15.2×	3e-03
G2/M Checkpoints	5	14.0×	3e-03
G2/M DNA damage checkpoint	5	12.5×	4e-03
CHD1 and CHD2 subfamily	5	11.3×	5e-03
mRNA Polyadenylation	5	9.2×	9e-03
Dengue Virus-Host Interactions	9	8.6×	3e-04
mRNA Splicing - Major Pathway	7	8.0×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	103
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1796 predictions. Top by Δscore:

Variant	Effect	Δscore
11:74775702:A:AG	donor_gain	1.0000
11:74789621:TTCA:T	acceptor_loss	1.0000
11:74789622:TCA:T	acceptor_loss	1.0000
11:74789623:CA:C	acceptor_loss	1.0000
11:74789624:A:AG	acceptor_gain	1.0000
11:74789625:G:GG	acceptor_gain	1.0000
11:74789625:GA:G	acceptor_gain	1.0000
11:74789625:GAC:G	acceptor_gain	1.0000
11:74789625:GACT:G	acceptor_gain	1.0000
11:74789625:GACTT:G	acceptor_gain	1.0000
11:74789695:GAAAG:G	donor_gain	1.0000
11:74789696:AAAG:A	donor_loss	1.0000
11:74789697:AAG:A	donor_loss	1.0000
11:74789698:AGGT:A	donor_loss	1.0000
11:74789700:G:GA	donor_loss	1.0000
11:74789701:T:A	donor_loss	1.0000
11:74810182:AGCT:A	acceptor_gain	1.0000
11:74810183:GCT:G	acceptor_gain	1.0000
11:74810183:GCTG:G	acceptor_gain	1.0000
11:74817713:GG:G	donor_gain	1.0000
11:74817714:GG:G	donor_gain	1.0000
11:74818043:G:GT	donor_gain	1.0000
11:74835541:TTCA:T	acceptor_loss	1.0000
11:74835542:TCAG:T	acceptor_loss	1.0000
11:74835543:CAGGT:C	acceptor_loss	1.0000
11:74836678:G:GT	donor_gain	1.0000
11:74748981:C:G	donor_gain	0.9900
11:74775702:A:G	donor_gain	0.9900
11:74809440:TCACC:T	donor_gain	0.9900
11:74810175:T:G	acceptor_gain	0.9900

AlphaMissense

4548 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:74835747:T:C	F382L	1.000
11:74835749:C:A	F382L	1.000
11:74835749:C:G	F382L	1.000
11:74835903:T:A	W434R	1.000
11:74835903:T:C	W434R	1.000
11:74835905:G:C	W434C	1.000
11:74835905:G:T	W434C	1.000
11:74835705:A:C	S368R	0.999
11:74835707:C:A	S368R	0.999
11:74835707:C:G	S368R	0.999
11:74835714:A:C	S371R	0.999
11:74835716:C:A	S371R	0.999
11:74835716:C:G	S371R	0.999
11:74835723:A:C	S374R	0.999
11:74835725:C:A	S374R	0.999
11:74835725:C:G	S374R	0.999
11:74835748:T:C	F382S	0.999
11:74835748:T:G	F382C	0.999
11:74835752:G:C	K383N	0.999
11:74835752:G:T	K383N	0.999
11:74835757:T:A	I385N	0.999
11:74835904:G:C	W434S	0.999
11:74835925:G:C	R441P	0.999
11:74835721:A:C	D373A	0.998
11:74835721:A:T	D373V	0.998
11:74835727:T:A	I375N	0.998
11:74835727:T:C	I375T	0.998
11:74835739:T:C	L379P	0.998
11:74835746:T:A	H381Q	0.998
11:74835746:T:G	H381Q	0.998

dbSNP variants (sampled 300 via entrez): RS1000006257 (11:74783961 T>C), RS1000015915 (11:74816958 C>G), RS1000020455 (11:74797228 G>A,T), RS1000021411 (11:74749498 G>A,C,T), RS1000072903 (11:74797519 A>C,G,T), RS1000110011 (11:74776379 A>G), RS1000182458 (11:74790655 A>G), RS1000187481 (11:74760539 T>A), RS1000191165 (11:74766667 A>C), RS1000200066 (11:74836993 C>T), RS1000233756 (11:74747701 C>T), RS1000291119 (11:74767212 C>A), RS1000311504 (11:74838717 A>G), RS1000338975 (11:74783691 C>T), RS1000351248 (11:74795843 T>G)

Disease associations

OMIM: gene MIM:618650 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST90000025_172	Appendicular lean mass	9.000000e-15

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	4
Doxorubicin	decreases expression, increases phosphorylation, affects reaction	2
FR900359	affects phosphorylation	1
TAK-243	increases sumoylation	1
butyraldehyde	decreases expression	1
ferrous chloride	increases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	increases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Leflunomide	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Cisplatin	decreases expression	1
Dimethyl Sulfoxide	increases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Potassium Dichromate	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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