RNF167

Summary

RNF167 (ring finger protein 167, HGNC:24544) is a protein-coding gene on chromosome 17p13.2, encoding E3 ubiquitin-protein ligase RNF167 (Q9H6Y7). E3 ubiquitin-protein ligase that acts as a regulator of the TORC1 signaling pathway.

RNF167 is an E3 ubiquitin ligase that interacts with TSSC5 (SLC22A18; MIM 602631) and, together with UBCH6 (UBE2E1; MIM 602916), facilitates TSSC5 polyubiquitylation (Yamada and Gorbsky, 2006 [PubMed 16314844]).

Source: NCBI Gene 26001 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 72 total
• MANE Select transcript: NM_015528

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24544
Approved symbol	RNF167
Name	ring finger protein 167
Location	17p13.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP566H073
Ensembl gene	ENSG00000108523
Ensembl biotype	protein_coding
OMIM	610431
Entrez	26001

Gene structure

Transcript identifiers

Ensembl transcripts: 29 — 23 protein_coding, 3 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000262482, ENST00000570328, ENST00000570492, ENST00000571365, ENST00000571816, ENST00000572382, ENST00000572430, ENST00000572554, ENST00000573404, ENST00000574548, ENST00000575111, ENST00000575400, ENST00000575524, ENST00000576229, ENST00000576452, ENST00000576965, ENST00000868717, ENST00000868718, ENST00000868719, ENST00000868720, ENST00000868721, ENST00000868722, ENST00000868723, ENST00000868724, ENST00000868725, ENST00000868726, ENST00000868727, ENST00000868728, ENST00000929511

RefSeq mRNA: 20 — MANE Select: NM_015528 NM_001320356, NM_001320357, NM_001320358, NM_001320359, NM_001320360, NM_001320361, NM_001320362, NM_001320363, NM_001320364, NM_001320365, NM_001370303, NM_001370304, NM_001370305, NM_001370306, NM_001370307, NM_001370308, NM_001370311, NM_001370313, NM_001375485, NM_015528

CCDS: CCDS11060, CCDS82040

Canonical transcript exons

ENST00000262482 — 10 exons

Exon	Start	End
ENSE00000676513	4943426	4943519
ENSE00000676516	4943179	4943284
ENSE00000676526	4940487	4940993
ENSE00001061399	4940268	4940360
ENSE00003482107	4944715	4945222
ENSE00003502681	4942577	4942664
ENSE00003534329	4941077	4941157
ENSE00003582693	4944558	4944638
ENSE00003614467	4942851	4942941
ENSE00003788269	4942341	4942466

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 98.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 79.9211 / max 378.8254, expressed in 1822 samples.

FANTOM5 promoters (20 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158976	40.7131	1814
158973	9.1321	1785
158977	7.6708	1655
158968	6.4624	1637
158975	3.7454	877
158972	3.1123	1532
158985	1.9904	310
158971	1.5319	953
158969	1.4297	853
158978	1.3426	796

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	98.89	gold quality
apex of heart	UBERON:0002098	98.43	gold quality
mucosa of transverse colon	UBERON:0004991	98.33	gold quality
left testis	UBERON:0004533	98.22	gold quality
lower esophagus mucosa	UBERON:0035834	98.20	gold quality
right testis	UBERON:0004534	98.15	gold quality
lower esophagus	UBERON:0013473	98.09	gold quality
lower esophagus muscularis layer	UBERON:0035833	98.09	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	98.07	gold quality
muscle layer of sigmoid colon	UBERON:0035805	98.04	gold quality
right lobe of thyroid gland	UBERON:0001119	98.03	gold quality
metanephros cortex	UBERON:0010533	98.03	gold quality
adenohypophysis	UBERON:0002196	97.98	gold quality
skin of abdomen	UBERON:0001416	97.95	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.94	gold quality
skin of leg	UBERON:0001511	97.93	gold quality
right lobe of liver	UBERON:0001114	97.92	gold quality
right frontal lobe	UBERON:0002810	97.85	gold quality
body of stomach	UBERON:0001161	97.84	gold quality
small intestine Peyer’s patch	UBERON:0003454	97.84	gold quality
left lobe of thyroid gland	UBERON:0001120	97.82	gold quality
body of uterus	UBERON:0009853	97.81	gold quality
cerebellar hemisphere	UBERON:0002245	97.79	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.79	gold quality
cerebellar cortex	UBERON:0002129	97.72	gold quality
right adrenal gland	UBERON:0001233	97.69	gold quality
right uterine tube	UBERON:0001302	97.69	gold quality
transverse colon	UBERON:0001157	97.66	gold quality
endocervix	UBERON:0000458	97.58	gold quality
body of pancreas	UBERON:0001150	97.57	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.79
E-GEOD-106540	no	348.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

12 targeting RNF167, 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-6759-5P	99.99	66.54	785
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-370-5P	99.78	66.81	706
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-4463	98.56	66.05	1071
HSA-MIR-6728-5P	97.79	66.33	891
HSA-MIR-4749-3P	96.40	66.24	798
HSA-MIR-555	95.92	65.25	564
HSA-MIR-6769A-3P	94.91	61.36	412

Literature-anchored findings (GeneRIF, showing 7)

• RNF167 is a selective regulator of AMPAR-mediated neurotransmission. (PMID:23129617)
• mutation of the Godzilla ubiquitylation target lysines on VAMP3 abrogates the formation of enlarged endosomes induced by either Godzilla or RNF167. (PMID:23353890)
• Point mutations are characterized in the RING domain of RNF167 and RNF13. (PMID:24387786)
• Data indicate that E3 ubiquitin-protein ligase RNF167 ubiquitinates Arl8B at the lysine residue K141 and reduces the level of the ADP-ribosylation factor-like 8B Arl8B protein. (PMID:27808481)
• RNF167 activates mTORC1 and promotes tumorigenesis by targeting CASTOR1 for ubiquitination and degradation. (PMID:33594058)
• Functional interaction of ubiquitin ligase RNF167 with UBE2D1 and UBE2N promotes ubiquitination of AMPA receptor. (PMID:33650289)
• E3 ligase RNF167 and deubiquitinase STAMBPL1 modulate mTOR and cancer progression. (PMID:35114100)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Rnf167	ENSMUSG00000040746
rattus_norvegicus	Rnf167	ENSRNOG00000003879

Paralogs (9): RNF13 (ENSG00000082996), RNF215 (ENSG00000099999), ZNRF4 (ENSG00000105428), RNF130 (ENSG00000113269), RNF128 (ENSG00000133135), RNF149 (ENSG00000163162), RNF150 (ENSG00000170153), RNF133 (ENSG00000188050), RNF148 (ENSG00000235631)

Protein

Protein identifiers

E3 ubiquitin-protein ligase RNF167 — Q9H6Y7 (reviewed: Q9H6Y7)

Alternative names: RING finger protein 167

All UniProt accessions (7): Q9H6Y7, I3L0V7, I3L1K4, I3L2D4, I3L2Y3, I3L462, K7EN24

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that acts as a regulator of the TORC1 signaling pathway. Positively regulates the TORC1 signaling pathway independently of arginine levels: acts by catalyzing ‘Lys-29’-polyubiquitination and degradation of CASTOR1, releasing the GATOR2 complex from CASTOR1. Also negatively regulates the TORC1 signaling pathway in response to leucine deprivation: acts by mediating ‘Lys-63’-linked polyubiquitination of SESN2, promoting SESN2-interaction with the GATOR2 complex. Also involved in protein trafficking and localization. Acts as a regulator of synaptic transmission by mediating ubiquitination and degradation of AMPAR receptor GluA2/GRIA2. Does not catalyze ubiquitination of GluA1/GRIA1. Also acts as a regulator of the recycling endosome pathway by mediating ubiquitination of VAMP3. Regulates lysosome positioning by catalyzing ubiquitination and degradation of ARL8B. Plays a role in growth regulation involved in G1/S transition by mediating, possibly by mediating ubiquitination of SLC22A18. Acts with a limited set of E2 enzymes, such as UBE2D1 and UBE2N.

Subcellular location. Lysosome membrane. Endosome membrane. Endomembrane system. Cell membrane Lysosome membrane Cytoplasm. Cytosol.

Tissue specificity. Widely expressed. Strongly expressed in the kidney, pancreas, testis and liver (at protein level).

Post-translational modifications. Autoubiquitinated in vitro in the presence of UBE2D1 and UBE2E1.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the Godzilla family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9H6Y7-1	1, RNF167-a	yes
Q9H6Y7-2	2, RNF167-b

RefSeq proteins (20): NP_001307285, NP_001307286, NP_001307287, NP_001307288, NP_001307289, NP_001307290, NP_001307291, NP_001307292, NP_001307293, NP_001307294, NP_001357232, NP_001357233, NP_001357234, NP_001357235, NP_001357236, NP_001357237, NP_001357240, NP_001357242, NP_001362414, NP_056343* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001841	Znf_RING	Domain
IPR003137	PA_domain	Domain
IPR011016	Znf_RING-CH	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR044744	ZNRF4/RNF13/RNF167_PA	Domain
IPR046450	PA_dom_sf	Homologous_superfamily
IPR051834	RING_finger_E3_ligase	Family

Pfam: PF02225, PF13639

UniProt features (23 total): mutagenesis site 6, sequence variant 4, compositionally biased region 3, glycosylation site 2, signal peptide 1, chain 1, splice variant 1, transmembrane region 1, sequence conflict 1, domain 1, zinc finger region 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6Y7-F1	79.08	0.51

Functional residue map

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

Glycosylation sites (2): 79, 33

Mutagenesis-validated functional residues (6):

Position	Phenotype
33	reduced n-glycosylation. abolished n-glycosylation; when associated with q-79.
79	reduced n-glycosylation. abolished n-glycosylation; when associated with q-33.
232	drastically increased stability; reduction in auto-ubiquitination activity; loss of cell delay/arrest in g1.
233	abolished e3 ubiquitin-protein ligase activity.
250–253	abolished e3 ubiquitin-protein ligase activity.
260	drastically increased stability; reduction in auto-ubiquitination activity; loss of cell delay/arrest in g1.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 251 (showing top): YAGI_AML_WITH_INV_16_TRANSLOCATION, GOCC_VACUOLAR_MEMBRANE, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, MODULE_418, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_CELL_CELL_SIGNALING, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_NEGATIVE_REGULATION_OF_TOR_SIGNALING, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION

GO Biological Process (16): protein polyubiquitination (GO:0000209), ubiquitin-dependent protein catabolic process (GO:0006511), lysosome localization (GO:0032418), protein K29-linked ubiquitination (GO:0035519), negative regulation of cell cycle (GO:0045786), organelle localization (GO:0051640), regulation of synaptic transmission, glutamatergic (GO:0051966), protein K63-linked ubiquitination (GO:0070534), negative regulation of TORC1 signaling (GO:1904262), positive regulation of TORC1 signaling (GO:1904263), cellular response to leucine starvation (GO:1990253), protein ubiquitination (GO:0016567), cellular response to nutrient levels (GO:0031669), cellular response to amino acid starvation (GO:0034198), protein K6-linked ubiquitination (GO:0085020), negative regulation of intracellular signal transduction (GO:1902532)

GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (11): cytoplasm (GO:0005737), lysosome (GO:0005764), lysosomal membrane (GO:0005765), endosome (GO:0005768), cytosol (GO:0005829), plasma membrane (GO:0005886), endolysosome membrane (GO:0036020), endosome membrane (GO:0010008), endomembrane system (GO:0012505), membrane (GO:0016020), organelle membrane (GO:0031090)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
protein polyubiquitination	3
protein ubiquitination	2
TORC1 signaling	2
regulation of TORC1 signaling	2
membrane	2
modification-dependent protein catabolic process	1
vacuolar localization	1
cell cycle	1
negative regulation of cellular process	1
regulation of cell cycle	1
localization	1
synaptic transmission, glutamatergic	1
modulation of chemical synaptic transmission	1
negative regulation of TOR signaling	1
positive regulation of TOR signaling	1
cellular response to amino acid starvation	1
protein modification by small protein conjugation	1
response to nutrient levels	1
cellular response to stimulus	1
cellular response to starvation	1
response to amino acid starvation	1
negative regulation of signal transduction	1
intracellular signal transduction	1
regulation of intracellular signal transduction	1
ubiquitin-like protein transferase activity	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
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
endomembrane system	1
cytoplasmic vesicle	1
cytoplasm	1
cell periphery	1

Protein interactions and networks

STRING

606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RNF167	UBE2E1	P51965	828
RNF167	SLC67A1	Q96BI1	828
RNF167	SLC67A1-AS	Q8N1D0	742
RNF167	UBE2D1	P51668	702
RNF167	CDC34	P49427	577
RNF167	RNF152	Q8N8N0	573
RNF167	SNRPN	P14648	493
RNF167	OR2L13	Q8N349	475
RNF167	ZNRF1	Q8ND25	456
RNF167	ZNF277	Q9NRM2	418
RNF167	CACNA2D3	Q8IZS8	411
RNF167	RNF146	Q9NTX7	411
RNF167	INTS2	Q9H0H0	391
RNF167	KLHL22	Q53GT1	390
RNF167	TACO1	Q9BSH4	385

IntAct

68 interactions, top by confidence:

A	B	Type	Score
UBE2K	RNF167	psi-mi:“MI:0915”(physical association)	0.560
UBE2E1	RNF167	psi-mi:“MI:0915”(physical association)	0.550
RNF167	UBE2E3	psi-mi:“MI:0915”(physical association)	0.550
UBE2W	RNF167	psi-mi:“MI:0915”(physical association)	0.550
A4GNT	POTEF	psi-mi:“MI:0914”(association)	0.530
AP3S1	AP3B1	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.530
SRPRB	CTDNEP1	psi-mi:“MI:0914”(association)	0.530
RNF167	UBE2D1	psi-mi:“MI:0915”(physical association)	0.370
UBE2D2	RNF167	psi-mi:“MI:0915”(physical association)	0.370
RNF167	UBE2D3	psi-mi:“MI:0915”(physical association)	0.370
RNF167	UBE2D4	psi-mi:“MI:0915”(physical association)	0.370
RNF167	UBE2N	psi-mi:“MI:0915”(physical association)	0.370
RNF167	HIP2	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
HLA-DPA1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
TMPRSS11B		psi-mi:“MI:0914”(association)	0.350
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.350
SRPRB	GOSR1	psi-mi:“MI:0914”(association)	0.350
RNF13	AP3D1	psi-mi:“MI:0914”(association)	0.350
B4GAT1	ADCY6	psi-mi:“MI:0914”(association)	0.350

BioGRID (117): RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-Western), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), RNF167 (Affinity Capture-MS), CCDC59 (Affinity Capture-MS), RNF167 (Reconstituted Complex), RNF167 (Affinity Capture-RNA)

ESM2 similar proteins: A0JNK3, A2RT60, A4IHA1, A6YFB5, A9JRB3, B3LVG7, B3P3J9, B4G316, B4HEM8, B4JTT7, B4K835, B4LY58, B4N937, B4PST0, B4QZU6, D3ZA76, D3ZKF5, E1BJW1, F1N152, F4J3G5, O22609, O23614, O43464, P14543, P38935, P73940, P83105, P83110, Q14689, Q14703, Q297U2, Q3U213, Q5SNQ7, Q5XIL0, Q6GMI0, Q852K0, Q8BMS2, Q8IUL8, Q8IZJ1, Q91XF4

Diamond homologs: A5WWA0, E9QAU8, G3X9R7, O22197, O22755, O43567, O54965, O64763, P0C034, P0CH30, P0DPR2, Q06003, Q07G42, Q08D68, Q0II22, Q0VD51, Q10R93, Q14B02, Q29RU0, Q2TA44, Q3U2C5, Q4KLR8, Q4R6Y5, Q5NCP0, Q5RCV8, Q5RF74, Q5SPX3, Q5SSZ7, Q5XF85, Q641J8, Q66HG0, Q68DV7, Q69U49, Q6AY01, Q6DIP3, Q6IRP0, Q6NML0, Q6NQG7, Q6NRX0, Q6Y290

SIGNOR signaling

6 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	RNF167	ubiquitination
RNF167	“down-regulates quantity by destabilization”	SLC22A18	polyubiquitination
UBE2E1	“up-regulates activity”	RNF167	binding
RNF167	“down-regulates quantity by destabilization”	VAMP3	ubiquitination

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 75 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	6	39.5×	2e-06
E3 ubiquitin ligases ubiquitinate target proteins	5	17.3×	5e-04
Antigen processing: Ubiquitination & Proteasome degradation	10	6.6×	2e-04

GO biological processes:

GO term	Partners	Fold	FDR
protein monoubiquitination	5	24.9×	2e-04
protein K48-linked ubiquitination	8	19.5×	4e-06
protein polyubiquitination	7	11.7×	2e-04
ubiquitin-dependent protein catabolic process	7	7.5×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	0
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1487 predictions. Top by Δscore:

Variant	Effect	Δscore
17:4940588:G:GT	donor_gain	1.0000
17:4941068:T:A	acceptor_gain	1.0000
17:4941071:CCGCA:C	acceptor_loss	1.0000
17:4941072:CGCA:C	acceptor_loss	1.0000
17:4941073:GCA:G	acceptor_loss	1.0000
17:4941074:CAGAC:C	acceptor_loss	1.0000
17:4941075:A:AG	acceptor_gain	1.0000
17:4941075:AGACC:A	acceptor_loss	1.0000
17:4941076:G:GA	acceptor_gain	1.0000
17:4941076:GA:G	acceptor_gain	1.0000
17:4941146:G:GT	donor_gain	1.0000
17:4941154:CCAG:C	donor_loss	1.0000
17:4941157:GG:G	donor_loss	1.0000
17:4941158:GTG:G	donor_loss	1.0000
17:4941159:T:A	donor_loss	1.0000
17:4942480:G:GT	donor_gain	1.0000
17:4942662:GTG:G	donor_gain	1.0000
17:4942849:A:AG	acceptor_gain	1.0000
17:4942850:G:GG	acceptor_gain	1.0000
17:4942939:GGG:G	donor_gain	1.0000
17:4942940:GGG:G	donor_gain	1.0000
17:4943425:GATA:G	acceptor_gain	1.0000
17:4943495:A:G	donor_gain	1.0000
17:4943515:GAAGG:G	donor_gain	1.0000
17:4943518:GG:G	donor_gain	1.0000
17:4943519:GG:G	donor_gain	1.0000
17:4940157:A:T	donor_gain	0.9900
17:4940231:G:GG	donor_gain	0.9900
17:4940546:G:GT	donor_gain	0.9900
17:4940623:G:GT	donor_gain	0.9900

AlphaMissense

2264 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:4944575:T:A	C230S	1.000
17:4944575:T:C	C230R	1.000
17:4944576:G:A	C230Y	1.000
17:4944576:G:C	C230S	1.000
17:4944577:T:G	C230W	1.000
17:4944582:T:A	I232N	1.000
17:4944584:T:A	C233S	1.000
17:4944584:T:C	C233R	1.000
17:4944585:G:C	C233S	1.000
17:4944743:G:C	W260C	1.000
17:4944743:G:T	W260C	1.000
17:4944745:T:C	L261P	1.000
17:4944765:T:C	C268R	1.000
17:4941125:T:C	F45L	0.999
17:4941127:T:A	F45L	0.999
17:4941127:T:G	F45L	0.999
17:4942455:T:C	F94L	0.999
17:4942456:T:G	F94C	0.999
17:4942457:T:A	F94L	0.999
17:4942457:T:G	F94L	0.999
17:4942466:G:C	K97N	0.999
17:4942466:G:T	K97N	0.999
17:4942590:A:C	Q102P	0.999
17:4942624:T:A	N113K	0.999
17:4942624:T:G	N113K	0.999
17:4942886:T:C	F139L	0.999
17:4942888:T:A	F139L	0.999
17:4942888:T:G	F139L	0.999
17:4944576:G:T	C230F	0.999
17:4944582:T:C	I232T	0.999

dbSNP variants (sampled 300 via entrez): RS1001333628 (17:4939520 C>T), RS1001421365 (17:4944804 G>A), RS1001935294 (17:4940684 A>G), RS1002258441 (17:4944987 C>T), RS1002357041 (17:4945139 AG>A), RS1002979173 (17:4943020 C>T), RS1002984190 (17:4941730 A>G), RS1003261446 (17:4943968 G>A), RS1003475157 (17:4938766 C>T), RS1003943640 (17:4943120 C>T), RS1004075859 (17:4941872 G>T), RS1005165997 (17:4938556 G>A), RS1005893649 (17:4945545 C>T), RS1005944334 (17:4945361 C>T), RS1006114998 (17:4940369 A>G)

Disease associations

OMIM: gene MIM:610431 | disease phenotypes: MIM:212140

GenCC curated gene-disease

Mondo (1): systemic primary carnitine deficiency disease (MONDO:0008919)

Orphanet (1): Systemic primary carnitine deficiency (Orphanet:158)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST90002400_200	Plateletcrit	6.000000e-36
GCST90002402_434	Platelet count	1.000000e-59
GCST90013442_27	Keratoconus	2.000000e-14

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007985	platelet crit
EFO:0004309	platelet count

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C536778	Systemic carnitine deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
methacrylaldehyde	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
corosolic acid	decreases expression	1
picoxystrobin	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Temozolomide	increases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	increases expression	1
Arsenic Trioxide	increases expression	1
Acrolein	affects cotreatment, decreases expression	1
Antimycin A	decreases expression	1
Vehicle Emissions	increases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Dexamethasone	increases expression, affects cotreatment	1
Diuron	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Ozone	affects cotreatment, decreases expression	1
Testosterone	decreases expression	1
Dronabinol	increases expression	1
Valproic Acid	decreases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B3G4	Abcam HEK293T RNF167 KO	Transformed cell line	Female
CVCL_D7ZH	Ubigene A-549 RNF167 KO	Cancer cell line	Male
CVCL_E0MU	Ubigene HeLa RNF167 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01904396	PHASE4	UNKNOWN	Identification of Carnitine-Responsive Cardiomyopathy
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT07201714	EARLY_PHASE1	RECRUITING	Oral Carnitine in Heart Failure Patients
NCT00187733	Not specified	COMPLETED	Influence of OCTN2 Variants on Carnitine Status and Plasma Triglycerides
NCT02635269	Not specified	UNKNOWN	Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
NCT05910151	Not specified	UNKNOWN	Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan