TRIM13

Summary

TRIM13 (tripartite motif containing 13, HGNC:9976) is a protein-coding gene on chromosome 13q14.2, encoding E3 ubiquitin-protein ligase TRIM13 (O60858). Endoplasmic reticulum (ER) membrane anchored E3 ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER-associated degradation (ERAD).

This gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This gene is located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia. Multiple alternatively spliced transcript variants have been found for this gene.

Source: NCBI Gene 10206 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• MANE Select transcript: NM_213590

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:9976
Approved symbol	TRIM13
Name	tripartite motif containing 13
Location	13q14.2
Locus type	gene with protein product
Status	Approved
Aliases	Leu5, RNF77, DLEU5
Ensembl gene	ENSG00000204977
Ensembl biotype	protein_coding
OMIM	605661
Entrez	10206

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000356017, ENST00000378182, ENST00000378183, ENST00000420995, ENST00000442421, ENST00000457662, ENST00000474805, ENST00000478111, ENST00000870403, ENST00000870404, ENST00000870405, ENST00000923738, ENST00000944732

RefSeq mRNA: 4 — MANE Select: NM_213590 NM_001007278, NM_005798, NM_052811, NM_213590

CCDS: CCDS41888, CCDS9423

Canonical transcript exons

ENST00000378182 — 2 exons

Exon	Start	End
ENSE00001532037	49997042	49997763
ENSE00001846347	50011935	50018467

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 97.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.9671 / max 164.8718, expressed in 1805 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
135135	17.8228	1805
135134	0.1215	3
135133	0.0126	3
135132	0.0103	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	97.49	gold quality
male germ cell	CL:0000015	96.62	gold quality
left testis	UBERON:0004533	95.90	gold quality
right testis	UBERON:0004534	95.70	gold quality
testis	UBERON:0000473	94.62	gold quality
ganglionic eminence	UBERON:0004023	94.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.10	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.24	gold quality
cortical plate	UBERON:0005343	93.18	gold quality
esophagus squamous epithelium	UBERON:0006920	92.74	gold quality
adult organism	UBERON:0007023	92.73	gold quality
ventricular zone	UBERON:0003053	91.78	gold quality
gingiva	UBERON:0001828	91.42	gold quality
epithelium of esophagus	UBERON:0001976	91.16	gold quality
gingival epithelium	UBERON:0001949	90.98	gold quality
calcaneal tendon	UBERON:0003701	90.84	gold quality
tibia	UBERON:0000979	90.68	gold quality
oral cavity	UBERON:0000167	90.20	gold quality
lower esophagus mucosa	UBERON:0035834	90.03	gold quality
visceral pleura	UBERON:0002401	89.94	gold quality
bronchial epithelial cell	CL:0002328	89.83	gold quality
endothelial cell	CL:0000115	89.80	gold quality
esophagus mucosa	UBERON:0002469	89.48	gold quality
rectum	UBERON:0001052	89.36	gold quality
right lung	UBERON:0002167	89.36	gold quality
embryo	UBERON:0000922	89.26	gold quality
skin of leg	UBERON:0001511	89.19	gold quality
skin of abdomen	UBERON:0001416	89.05	gold quality
epithelium of nasopharynx	UBERON:0001951	88.93	gold quality
nipple	UBERON:0002030	88.90	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.54

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

224 targeting TRIM13, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-3613-3P	100.00	76.36	7965
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-1252-5P	100.00	69.80	2774
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753

Literature-anchored findings (GeneRIF, showing 16)

• TRIM13, also known as RFP2, promoter area contains multiple quadruplex forming GGGGA-repeats that possesses unusually hight activity, anomalously high electrostatic fields induced by sequence-dependent dipoles and very low nucleosome forming potential. (PMID:16499869)
• Rfp2 contains a C-terminal transmembrane domain indispensable for its localization to the ER (PMID:17314412)
• Data suggest that irradiation causes RFP2 overexpression, which enhances ionizing radiation-induced apoptosis by increasing p53 stability and decreasing AKT kinase activity through MDM2 and AKT degradation. (PMID:21333377)
• Results describe the role of TRIM13 in induction of autophagy, which may play an important role in regulation of ER stress and tumor suppression. (PMID:22178386)
• Shows important roles of TRIM13 in MM tumour survival and proliferation in multiple myeloma. (PMID:23647456)
• This study first time demonstrated the role of TRIM13 as novel regulator of caspase-8 activation and cell death during endoplasmic reticulum stress. (PMID:24021263)
• Results show that HRD1 and RFP2 contributes are required for the disposal of V247M alpha-sarcoglycan mutant. (PMID:24565866)
• TRIM13 mediated NF-kappaB repression is essential for negative regulation of clonogenic ability of the cells. (PMID:25152375)
• Results from a study on gene expression variability markers in early-stage human embryos shows that TRIM13 is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• The Trim13-mediated ubiquitination of Nur77 was optimal in the presence of the E2 enzyme UbcH5. Importantly, in addition to Trim13-mediated ubiquitination, the stability of Nur77 was also regulated by casein kinase 2alpha (PMID:30224829)
• Results from bioinformatics analysis suggest that Tripartite motif 13 (TRIM13) may be adopted as a promising predictive biomarker for prognosis of breast cancer. (PMID:30837324)
• results indicate that TRIM13 behaves as a tumor suppressor in non-small-cell lung carcinoma through regulating NF-kappaB pathway. (PMID:31357025)
• Altered DNA methylation of TRIM13 in diabetic nephropathy suppresses mesangial collagen synthesis by promoting ubiquitination of CHOP. (PMID:31901873)
• TRIM3 and TRIM16 as potential tumor suppressors in breast cancer patients. (PMID:36180926)
• TRIM13 inhibits cell proliferation and induces autophagy in lung adenocarcinoma by regulating KEAP1/NRF2 pathway. (PMID:37245083)
• TRIM13 reduces cholesterol efflux and increases oxidized LDL uptake leading to foam cell formation and atherosclerosis. (PMID:38537695)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	trim13	ENSDARG00000010010
mus_musculus	Trim13	ENSMUSG00000035235
rattus_norvegicus	Trim13	ENSRNOG00000009075

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM13 — O60858 (reviewed: O60858)

Alternative names: B-cell chronic lymphocytic leukemia tumor suppressor Leu5, Leukemia-associated protein 5, Putative tumor suppressor RFP2, RING finger protein 77, RING-type E3 ubiquitin transferase TRIM13, Ret finger protein 2, Tripartite motif-containing protein 13

All UniProt accessions (3): O60858, X6R9U5, X6RH27

UniProt curated annotations — full annotation on UniProt →

Function. Endoplasmic reticulum (ER) membrane anchored E3 ligase involved in the retrotranslocation and turnover of membrane and secretory proteins from the ER through a set of processes named ER-associated degradation (ERAD). This process acts on misfolded proteins as well as in the regulated degradation of correctly folded proteins. Enhances ionizing radiation-induced p53/TP53 stability and apoptosis via ubiquitinating MDM2 and AKT1 and decreasing AKT1 kinase activity through MDM2 and AKT1 proteasomal degradation. Regulates ER stress-induced autophagy, and may act as a tumor suppressor. Also plays a role in innate immune response by stimulating NF-kappa-B activity in the TLR2 signaling pathway. Ubiquitinates TRAF6 via the ‘Lys-29’-linked polyubiquitination chain resulting in NF-kappa-B activation. Participates as well in T-cell receptor-mediated NF-kappa-B activation. In the presence of TNF, modulates the IKK complex by regulating IKBKG/NEMO ubiquitination leading to the repression of NF-kappa-B.

Subunit / interactions. Interacts (via C-terminal domain) with VCP. Interacts with AKT1; the interaction ubiquitinates AKT1 and leads to its proteasomal degradation. Interacts with MDM2; the interaction ubiquitinates AKT1 and leads to its proteasomal degradation. Interacts with p62/SQSTM1. Interacts with TRAF6. Interacts with IKBKG/NEMO.

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. Auto-ubiquitinated; requires the RING-type zinc finger. Auto-polyubiquitination leads to proteasomal degradation.

Domain organisation. The coiled-coil domain is required for the induction of autophagy during endoplasmic reticulum (ER) stress. The RING-type zinc finger is required for auto-polyubiquitination. The C-terminal domain transmembrane domain is indispensable for the localization to the ER.

Pathway. Protein modification; protein ubiquitination.

Miscellaneous. Located on chromosome 13 within the minimal deletion region for B-cell chronic lymphocytic leukemia.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (3)

UniProt ID	Names	Canonical?
O60858-1	1, Alpha	yes
O60858-2	2, Beta
O60858-3	3

RefSeq proteins (4): NP_001007279, NP_005789, NP_434698, NP_998755* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR050143	TRIM/RBCC	Family

Pfam: PF00643, PF13445

UniProt features (14 total): binding site 4, splice variant 3, zinc finger region 2, chain 1, transmembrane region 1, sequence variant 1, mutagenesis site 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60858-F1	79.11	0.44

Functional residue map

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

Ligand- & substrate-binding residues (4): 94; 97; 117; 123

Mutagenesis-validated functional residues (1):

Position	Phenotype
13	absence of polyubiquitination. stability of protein increased. no enhanced apoptosis on ionizing radiation induction. no

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-901032	ER Quality Control Compartment (ERQC)

MSigDB gene sets: 248 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_AUTOPHAGY, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_UP, GENTILE_RESPONSE_CLUSTER_D3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_MACROAUTOPHAGY, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_REGULATION_OF_CATABOLIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (12): positive regulation of macroautophagy (GO:0016239), negative regulation of viral transcription (GO:0032897), ERAD pathway (GO:0036503), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), suppression of viral release by host (GO:0044790), innate immune response (GO:0045087), protein autoubiquitination (GO:0051865), endoplasmic reticulum mannose trimming (GO:1904380), immune system process (GO:0002376), protein ubiquitination (GO:0016567), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (8): transcription coactivator activity (GO:0003713), ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), ubiquitin-like protein ligase activity (GO:0061659), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (6): cytoplasm (GO:0005737), endoplasmic reticulum membrane (GO:0005789), endoplasmic reticulum quality control compartment (GO:0044322), perinuclear endoplasmic reticulum (GO:0097038), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Calnexin/calreticulin cycle	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
proteasomal protein catabolic process	2
ubiquitin-like protein transferase activity	2
endoplasmic reticulum	2
positive regulation of autophagy	1
macroautophagy	1
regulation of macroautophagy	1
viral transcription	1
regulation of viral transcription	1
negative regulation of viral process	1
response to endoplasmic reticulum stress	1
response to chemical	1
canonical NF-kappaB signal transduction	1
regulation of canonical NF-kappaB signal transduction	1
positive regulation of intracellular signal transduction	1
ubiquitin-dependent protein catabolic process	1
defense response to virus	1
immune response	1
defense response to symbiont	1
protein ubiquitination	1
protein alpha-1,2-demannosylation	1
endoplasmic reticulum quality control compartment	1
biological_process	1
protein modification by small protein conjugation	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
perinuclear region of cytoplasm	1

Protein interactions and networks

STRING

1172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM13	KCNRG	Q8N5I3	932
TRIM13	PDYN	P01213	859
TRIM13	SLC25A16	P16260	790
TRIM13	PSENEN	Q9NZ42	790
TRIM13	JAG2	Q9Y219	773
TRIM13	TRAT1	Q6PIZ9	768
TRIM13	CD5	P06127	732
TRIM13	VCP	P55072	675
TRIM13	NTS	P30990	665
TRIM13	BBOX1	O75936	648
TRIM13	CS	O75390	644
TRIM13	POMC	P01189	620
TRIM13	SPRYD7	Q5W111	617
TRIM13	KNG1	P01042	616
TRIM13	KATNA1	O75449	583

IntAct

55 interactions, top by confidence:

A	B	Type	Score
FAM234B	ABCD4	psi-mi:“MI:0914”(association)	0.620
IGF1R	PIK3R2	psi-mi:“MI:2364”(proximity)	0.590
INSR	PIK3R2	psi-mi:“MI:2364”(proximity)	0.570
TRIM13	FLJ13057	psi-mi:“MI:0915”(physical association)	0.560
FLJ13057	TRIM13	psi-mi:“MI:0915”(physical association)	0.560
KIR3DL2	METTL15	psi-mi:“MI:0914”(association)	0.530
COMMD10	VPS26C	psi-mi:“MI:0914”(association)	0.530
TRIM13	MVK	psi-mi:“MI:0915”(physical association)	0.400
TRIM13	TRIM13	psi-mi:“MI:0915”(physical association)	0.370
UNC93B1		psi-mi:“MI:0914”(association)	0.350
TTYH1	TMEM223	psi-mi:“MI:0914”(association)	0.350
TEX28	NBAS	psi-mi:“MI:0914”(association)	0.350
PDE3A	TMEM131L	psi-mi:“MI:0914”(association)	0.350
TMEM130	GOLIM4	psi-mi:“MI:0914”(association)	0.350
MARCHF4	C2CD2L	psi-mi:“MI:0914”(association)	0.350
ABCG2	SCAMP1	psi-mi:“MI:0914”(association)	0.350
LRRN2	TRIM13	psi-mi:“MI:0914”(association)	0.350
KCNF1	TRIM13	psi-mi:“MI:0914”(association)	0.350
TRIM13	NPLOC4	psi-mi:“MI:0914”(association)	0.350
TMEM9B	NBAS	psi-mi:“MI:0914”(association)	0.350
CCDC107	TMEM131L	psi-mi:“MI:0914”(association)	0.350
TMEM35B	TRIM13	psi-mi:“MI:0914”(association)	0.350
SLC16A8	C15orf61	psi-mi:“MI:0914”(association)	0.350
SLC26A8	PSMD12	psi-mi:“MI:0914”(association)	0.350
SLC27A4	IPO5	psi-mi:“MI:0914”(association)	0.350
SLC30A5	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC35G1	FAM234B	psi-mi:“MI:0914”(association)	0.350

BioGRID (213): IKBKG (Affinity Capture-Western), TRIM13 (Affinity Capture-Western), GMCL1 (Two-hybrid), MDM2 (Biochemical Activity), AKT1 (Biochemical Activity), TRIM13 (Biochemical Activity), TRIM13 (Proximity Label-MS), TRIM13 (Proximity Label-MS), TRIM13 (Proximity Label-MS), TRIM13 (Proximity Label-MS), TRIM13 (Proximity Label-MS), TRIM13 (Affinity Capture-Western), TRIM13 (Proximity Label-MS), TRIM13 (Affinity Capture-MS), ELOVL2 (Affinity Capture-MS)

ESM2 similar proteins: A0JM23, A0JNG4, A2RV61, A5WW08, A7YY57, B0S6J3, D4A208, D4A770, E9QHE3, I1VZH0, O17482, O60858, O75044, O94972, P79457, Q08AW4, Q0P557, Q15052, Q32L60, Q38HM4, Q3V3A7, Q5M7V1, Q5PQN5, Q5RD58, Q5VX52, Q5XIH6, Q5XXR3, Q5ZLR6, Q5ZMD4, Q68FF0, Q6AY22, Q6AZT7, Q6NSI8, Q6ZRF8, Q7Z6B7, Q8C7M3, Q8K4I3, Q8N8B7, Q8TDY2, Q91YN0

Diamond homologs: A0JPQ4, A6QQX5, D3YY23, D3Z8N2, F6ZQ54, F8S122, O00478, O00481, O60858, O75677, P18892, P82885, P83234, Q13410, Q14258, Q17RB8, Q1XH17, Q1XH18, Q27J48, Q2XXL4, Q32L60, Q503I2, Q5EBN2, Q5M7V1, Q5R846, Q5R996, Q5TA31, Q5ZMD4, Q61510, Q62556, Q640S6, Q6PGR9, Q6QA27, Q6UX41, Q6UXG8, Q6ZMU5, Q7SZN2, Q7T308, Q7TST0, Q810I1

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM13	ubiquitination
TRIM13	“down-regulates quantity by destabilization”	CD3D	polyubiquitination
TRIM13	“down-regulates quantity by destabilization”	MDM2	polyubiquitination
TRIM13	“down-regulates quantity by destabilization”	AKT1	polyubiquitination
TRIM13	“down-regulates quantity by destabilization”	AKT2	polyubiquitination
“Ionizing radiation”	up-regulates	TRIM13
TRIM13	“down-regulates quantity by destabilization”	TRIM13	polyubiquitination
TRIM13	“down-regulates quantity by destabilization”	NR4A1	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 70 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.

GO biological processes:

GO term	Partners	Fold	FDR
transmembrane transport	5	14.5×	9e-03
protein autophosphorylation	5	12.5×	9e-03
positive regulation of MAPK cascade	6	8.3×	9e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1001 predictions. Top by Δscore:

Variant	Effect	Δscore
13:49997129:G:GT	donor_gain	1.0000
13:49997136:GAGA:G	donor_gain	1.0000
13:49997665:A:AG	acceptor_gain	1.0000
13:49997666:G:GG	acceptor_gain	1.0000
13:49997666:GT:G	acceptor_gain	1.0000
13:49997666:GTA:G	acceptor_gain	1.0000
13:49997666:GTAGC:G	acceptor_gain	1.0000
13:50011934:GGAT:G	acceptor_gain	1.0000
13:50020208:TCCTA:T	acceptor_loss	1.0000
13:50020209:CCTAG:C	acceptor_loss	1.0000
13:50020210:CTAGG:C	acceptor_loss	1.0000
13:50020211:TA:T	acceptor_loss	1.0000
13:50020212:A:G	acceptor_loss	1.0000
13:50020213:G:A	acceptor_loss	1.0000
13:50020213:GGTAT:G	acceptor_gain	1.0000
13:49997138:GA:G	donor_gain	0.9900
13:49997139:A:AG	donor_gain	0.9900
13:49997143:G:GG	donor_gain	0.9900
13:49997169:A:T	donor_gain	0.9900
13:49997179:G:GA	donor_gain	0.9900
13:49997663:GCA:G	acceptor_loss	0.9900
13:49997664:CA:C	acceptor_loss	0.9900
13:49997664:CAGTA:C	acceptor_gain	0.9900
13:49997665:A:C	acceptor_loss	0.9900
13:49997665:AGTAG:A	acceptor_gain	0.9900
13:49997759:CAGAG:C	donor_loss	0.9900
13:49997760:AGAGG:A	donor_loss	0.9900
13:49997761:GAG:G	donor_gain	0.9900
13:49997761:GAGGT:G	donor_loss	0.9900
13:49997762:AG:A	donor_loss	0.9900

AlphaMissense

2716 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:50011963:T:C	L8P	1.000
13:50011968:T:C	C10R	1.000
13:50011969:G:A	C10Y	1.000
13:50011970:C:G	C10W	1.000
13:50011977:T:C	C13R	1.000
13:50011999:C:A	P20Q	1.000
13:50012013:T:C	C25R	1.000
13:50012019:C:G	H27D	1.000
13:50012028:T:C	C30R	1.000
13:50012029:G:A	C30Y	1.000
13:50012037:T:C	C33R	1.000
13:50012100:T:A	C54S	1.000
13:50012100:T:C	C54R	1.000
13:50012101:G:C	C54S	1.000
13:50012109:T:C	C57R	1.000
13:50012156:T:A	N72K	1.000
13:50012156:T:G	N72K	1.000
13:50012256:T:C	C106R	1.000
13:50012257:G:A	C106Y	1.000
13:50012258:C:G	C106W	1.000
13:50012280:T:C	C114R	1.000
13:50011963:T:A	L8H	0.999
13:50011968:T:A	C10S	0.999
13:50011969:G:C	C10S	0.999
13:50011969:G:T	C10F	0.999
13:50011977:T:A	C13S	0.999
13:50011978:G:A	C13Y	0.999
13:50011978:G:C	C13S	0.999
13:50011979:T:G	C13W	0.999
13:50011990:T:C	F17S	0.999

dbSNP variants (sampled 300 via entrez): RS1000276397 (13:50011723 A>G,T), RS1000359371 (13:50016196 C>T), RS1000395701 (13:50004748 T>G), RS1000719955 (13:50016963 G>A), RS1000979050 (13:50003849 G>A), RS1000981201 (13:50018081 TCTC>T), RS1001011638 (13:50004181 C>A,G), RS1001148137 (13:50011484 A>G), RS1001200126 (13:50017892 T>C), RS1001273080 (13:50010170 T>A,C,G), RS1001626720 (13:50018129 G>A,T), RS1001652242 (13:50014725 A>C), RS1001758007 (13:49998199 C>T), RS1001767483 (13:50014538 TTAGTG>T), RS1001872555 (13:50009551 AC>A)

Disease associations

OMIM: gene MIM:605661 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001956_36	Height	1.000000e-09
GCST006630_39	Diastolic blood pressure	6.000000e-14
GCST012226_327	Waist circumference adjusted for body mass index	3.000000e-08
GCST012227_483	Hip circumference adjusted for BMI	3.000000e-36
GCST90020025_281	Waist-to-hip ratio adjusted for BMI	2.000000e-09
GCST90020027_1610	Waist-hip index	2.000000e-09
GCST90020028_1176	Hip circumference adjusted for BMI	5.000000e-28
GCST90020028_1178	Hip circumference adjusted for BMI	1.000000e-08
GCST90020028_1179	Hip circumference adjusted for BMI	2.000000e-11

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0007789	BMI-adjusted waist circumference
EFO:0008039	BMI-adjusted hip circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

53 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	5
Formaldehyde	decreases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	increases expression	1
trichostatin A	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
beta-methylcholine	affects expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	decreases expression	1
CGP 52608	affects binding, increases reaction	1
deguelin	decreases expression	1
fenpyroximate	decreases expression	1
4-chloro-N-((4-(1,1-dimethylethyl)phenyl)methyl)-3-ethyl-1-methyl-1H-pyrazole-5-carboxamide	decreases expression	1
pyrimidifen	decreases expression	1
thifluzamide	decreases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
pyrachlostrobin	decreases expression	1
jinfukang	decreases expression	1
picoxystrobin	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Venlafaxine Hydrochloride	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Antimycin A	decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Calcitriol	increases expression, affects cotreatment	1
Catechin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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