KBTBD7

Summary

KBTBD7 (kelch repeat and BTB domain containing 7, HGNC:25266) is a protein-coding gene on chromosome 13q14.11, encoding Kelch repeat and BTB domain-containing protein 7 (Q8WVZ9). As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions as a substrate adapter for the RAC1 guanine exchange factor (GEF) TIAM1, mediating its ‘Lys-48’ ubiquitination and proteasomal degradation.

The protein encoded by this gene is a transcriptional activator, having been shown to increase the transcription of activator protein-1 and serum response element. The encoded protein can also form a complex with KBTBD6 and CUL3, which regulates the ubiquitylation and degradation of TIAM1, which is a regulator of RAC1.

Source: NCBI Gene 84078 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_032138

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25266
Approved symbol	KBTBD7
Name	kelch repeat and BTB domain containing 7
Location	13q14.11
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434E2318
Ensembl gene	ENSG00000120696
Ensembl biotype	protein_coding
OMIM	617739
Entrez	84078

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000379483

RefSeq mRNA: 1 — MANE Select: NM_032138 NM_032138

CCDS: CCDS9377

Canonical transcript exons

ENST00000379483 — 1 exons

Exon	Start	End
ENSE00001481257	41189834	41194569

Expression profiles

Bgee: expression breadth ubiquitous, 250 present calls, max score 93.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.9456 / max 104.1237, expressed in 1201 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136958	2.3880	985
136957	0.5575	204

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	93.60	gold quality
oocyte	CL:0000023	91.44	gold quality
buccal mucosa cell	CL:0002336	91.19	gold quality
endothelial cell	CL:0000115	89.84	gold quality
pigmented layer of retina	UBERON:0001782	89.56	gold quality
cortical plate	UBERON:0005343	87.77	gold quality
tibia	UBERON:0000979	85.25	gold quality
palpebral conjunctiva	UBERON:0001812	85.20	gold quality
trabecular bone tissue	UBERON:0002483	85.01	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.71	gold quality
amniotic fluid	UBERON:0000173	81.16	gold quality
ganglionic eminence	UBERON:0004023	81.15	gold quality
ventricular zone	UBERON:0003053	80.14	gold quality
bone marrow	UBERON:0002371	79.98	gold quality
islet of Langerhans	UBERON:0000006	79.88	gold quality
Brodmann (1909) area 46	UBERON:0006483	79.68	gold quality
bronchial epithelial cell	CL:0002328	79.66	gold quality
bronchus	UBERON:0002185	79.03	gold quality
jejunal mucosa	UBERON:0000399	78.95	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.89	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	78.72	gold quality
cerebellar vermis	UBERON:0004720	78.72	silver quality
seminal vesicle	UBERON:0000998	78.54	gold quality
esophagus squamous epithelium	UBERON:0006920	78.48	gold quality
mucosa of paranasal sinus	UBERON:0005030	78.35	gold quality
epithelial cell of pancreas	CL:0000083	78.19	gold quality
middle temporal gyrus	UBERON:0002771	78.05	gold quality
primary visual cortex	UBERON:0002436	77.81	gold quality
blood	UBERON:0000178	77.72	gold quality
calcaneal tendon	UBERON:0003701	77.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.90

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, TP53

miRNA regulators (miRDB)

39 targeting KBTBD7, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-1323	99.83	69.89	2471
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4499	99.62	67.29	1470
HSA-MIR-6126	99.62	68.09	996
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-422A	99.18	65.83	550
HSA-MIR-936	98.87	70.51	1124
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-378A-3P	98.43	66.10	548
HSA-MIR-378B	98.43	65.36	573
HSA-MIR-378C	98.43	66.10	548
HSA-MIR-378D	98.43	66.10	548
HSA-MIR-378E	98.43	65.99	551

Literature-anchored findings (GeneRIF, showing 4)

• KBTBD7 proteins may act as a new transcriptional activator in mitogen-activated protein kinase (MAPK) signaling. (PMID:20132730)
• KBTBD6 and KBTBD7 specifically bind to GABARAP proteins.KBTBD6 and KBTBD7 form a heterodimeric CRL3 complex. (PMID:25684205)
• KBTBD7 promotes non-small cell lung carcinoma progression by enhancing ubiquitin-dependent degradation of PTEN. (PMID:35499228)
• Knockdown of KBTBD7 attenuates septic lung injury by inhibiting ferroptosis and improving mitochondrial dysfunction. (PMID:38652964)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Kbtbd7	ENSMUSG00000043881
rattus_norvegicus	Kbtbd7	ENSRNOG00000064764

Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)

Protein

Protein identifiers

Kelch repeat and BTB domain-containing protein 7 — Q8WVZ9 (reviewed: Q8WVZ9)

All UniProt accessions (1): Q8WVZ9

UniProt curated annotations — full annotation on UniProt →

Function. As part of the CUL3(KBTBD6/7) E3 ubiquitin ligase complex functions as a substrate adapter for the RAC1 guanine exchange factor (GEF) TIAM1, mediating its ‘Lys-48’ ubiquitination and proteasomal degradation. By controlling this ubiquitination, regulates RAC1 signal transduction and downstream biological processes including the organization of the cytoskeleton, cell migration and cell proliferation. Ubiquitination of TIAM1 requires the membrane-associated protein GABARAP which may restrict locally the activity of the complex.

Subunit / interactions. Core component of a BCR3 (BTB-CUL3-RBX1) E3 ubiquitin ligase complex, also named Cul3-RING ubiquitin ligase complex CUL3(KBTBD6/7), composed of CUL3, RBX1, KBTBD6 and KBTBD7. Interacts with GABARAP; the interaction is direct and is required for the ubiquitination of TIAM1. Interacts with GABARAPL1, GABARAPL2 and MAP1LC3B; the interaction is direct.

Subcellular location. Cytoplasm. Nucleus.

Domain organisation. The ATG8 interaction motif (AIM) mediates interaction with proteins of the ATG8 family including GABARAP. The BTB domain is required for interaction with CUL3. The Kelch repeats mediate interaction with TIAM1, a CUL3(KBTBD6/7) E3 ubiquitin ligase substrate.

Pathway. Protein modification; protein ubiquitination.

RefSeq proteins (1): NP_115514* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000210	BTB/POZ_dom	Domain
IPR006652	Kelch_1	Repeat
IPR011333	SKP1/BTB/POZ_sf	Homologous_superfamily
IPR011705	BACK	Domain
IPR015915	Kelch-typ_b-propeller	Homologous_superfamily
IPR017096	BTB-kelch_protein	Family
IPR046790	KBTB_W-LIR	Conserved_site
IPR047931	KBTBD6_7_BACK	Domain
IPR047933	KBTBD6_7_BTB_POZ	Domain

Pfam: PF00651, PF01344, PF07707, PF20165

UniProt features (19 total): repeat 5, mutagenesis site 3, sequence conflict 3, compositionally biased region 2, region of interest 2, chain 1, domain 1, modified residue 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WVZ9-F1	81.03	0.55

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 (1): 29

Mutagenesis-validated functional residues (3):

Position	Phenotype
99	loss of interaction with cul3. loss of function in tiam1 degradation.
668–671	decreased interaction with gabarap and gabarapl2. loss of function in tiam1 ubiquitination and degradation. no effect on
668	decreased interaction with gabarap and gabarapl2.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-5658442	Regulation of RAS by GAPs
R-HSA-8951664	Neddylation
R-HSA-983168	Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1280218	Adaptive Immune System
R-HSA-162582	Signal Transduction
R-HSA-168256	Immune System
R-HSA-392499	Metabolism of proteins
R-HSA-5673001	RAF/MAP kinase cascade
R-HSA-5683057	MAPK family signaling cascades
R-HSA-5684996	MAPK1/MAPK3 signaling
R-HSA-597592	Post-translational protein modification
R-HSA-983169	Class I MHC mediated antigen processing & presentation

MSigDB gene sets: 145 (showing top): E2F_Q4, E2F4DP1_01, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, E2F1DP1_01, E2F_Q3, E2F1DP2_01, GOBP_REGULATION_OF_RAC_PROTEIN_SIGNAL_TRANSDUCTION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, E2F1_Q3, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS

GO Biological Process (5): negative regulation of signal transduction (GO:0009968), regulation of Rac protein signal transduction (GO:0035020), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), protein K48-linked ubiquitination (GO:0070936), protein ubiquitination (GO:0016567)

GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), Cul3-RING ubiquitin ligase complex (GO:0031463)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
RAF/MAP kinase cascade	1
Post-translational protein modification	1
Class I MHC mediated antigen processing & presentation	1
Immune System	1
MAPK1/MAPK3 signaling	1
Signal Transduction	1
MAPK family signaling cascades	1
Metabolism of proteins	1
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
signal transduction	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
Rac protein signal transduction	1
regulation of small GTPase mediated signal transduction	1
ubiquitin-dependent protein catabolic process	1
proteasomal protein catabolic process	1
protein polyubiquitination	1
protein modification by small protein conjugation	1
enzyme-substrate adaptor activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cytoplasm	1
cullin-RING ubiquitin ligase complex	1

Protein interactions and networks

STRING

824 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KBTBD7	CUL3	Q13618	903
KBTBD7	TJP1	Q07157	411
KBTBD7	TJP2	Q9UDY2	409
KBTBD7	PROSER1	Q86XN7	321
KBTBD7	KCTD6	Q8NC69	306
KBTBD7	CCDC169	A6NNP5	305
KBTBD7	TNFRSF17	Q02223	301
KBTBD7	TIAM1	Q13009	300
KBTBD7	GARIN4	Q8IYT1	290
KBTBD7	LRRC19	Q9H756	280
KBTBD7	ZRANB2	O95218	279
KBTBD7	KCTD5	Q9NXV2	271
KBTBD7	UBXN1	Q04323	264
KBTBD7	CFAP69	A5D8W1	262
KBTBD7	NHLRC3	Q5JS37	261

IntAct

279 interactions, top by confidence:

A	B	Type	Score
KBTBD7	CUL3	psi-mi:“MI:0914”(association)	0.920
CUL3	KBTBD7	psi-mi:“MI:0915”(physical association)	0.920
KBTBD6	KBTBD7	psi-mi:“MI:0915”(physical association)	0.880
KBTBD7	KBTBD6	psi-mi:“MI:0915”(physical association)	0.880
KBTBD6	CUL3	psi-mi:“MI:0914”(association)	0.860
CUL3	KBTBD6	psi-mi:“MI:0915”(physical association)	0.860
KBTBD7	MAP1LC3B	psi-mi:“MI:0407”(direct interaction)	0.840
MAP1LC3B	KBTBD7	psi-mi:“MI:0915”(physical association)	0.840
GABARAPL1	KBTBD7	psi-mi:“MI:0915”(physical association)	0.820
KBTBD7	GABARAPL1	psi-mi:“MI:0915”(physical association)	0.820
KBTBD7	GABARAPL1	psi-mi:“MI:0407”(direct interaction)	0.820
GABARAPL2	KBTBD7	psi-mi:“MI:0407”(direct interaction)	0.800
KBTBD7	GABARAPL2	psi-mi:“MI:0915”(physical association)	0.800
GABARAPL2	KBTBD7	psi-mi:“MI:0915”(physical association)	0.800
KBTBD7	GABARAPL2	psi-mi:“MI:0407”(direct interaction)	0.800
GABARAP	KBTBD7	psi-mi:“MI:0407”(direct interaction)	0.760
KBTBD7	GABARAP	psi-mi:“MI:0915”(physical association)	0.760
KBTBD7	GABARAP	psi-mi:“MI:0914”(association)	0.760
GABARAP	KBTBD7	psi-mi:“MI:0915”(physical association)	0.760
KBTBD7	GABARAP	psi-mi:“MI:0407”(direct interaction)	0.760
KBTBD8	KBTBD7	psi-mi:“MI:0915”(physical association)	0.740
KBTBD8	KBTBD7	psi-mi:“MI:0914”(association)	0.740
SARNP	DDX39A	psi-mi:“MI:0914”(association)	0.740
KBTBD7	METTL15	psi-mi:“MI:0914”(association)	0.730

BioGRID (360): KBTBD7 (Two-hybrid), KBTBD7 (Two-hybrid), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS)

ESM2 similar proteins: A0A1B8YAB1, B1H285, B3DIV9, E9QIN8, E9QJ30, F1QEG2, O88879, Q08CL3, Q08CY1, Q0D2A9, Q13939, Q28068, Q3UQV5, Q3ZCT8, Q503R4, Q5F3N5, Q5R4S6, Q5R663, Q5RG82, Q5XHZ6, Q5XI58, Q5ZI33, Q69ZK5, Q6DFF7, Q6DFU2, Q6Q7X9, Q6V595, Q7ZVQ8, Q86V97, Q8BHI4, Q8BUL5, Q8BWA5, Q8CA72, Q8CDE2, Q8CE33, Q8IXQ5, Q8NAB2, Q8NFY9, Q8R179, Q8WVZ9

Diamond homologs: A0JMG1, A1YEX3, B0WWP2, B3DIV9, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, B7U179, D3Z8N4, D4A2K4, E0CZ16, E7F6F9, F1LZF0, F1MBP6, O14682, O22286, O35709, O43791, O81432, O95198, P0DMR5, P0DMR6, P24278, P28575, P34568, P58544, P58545, Q08DK3, Q08DS0, Q0D2A9, Q0IHH9, Q0VCW1, Q16RL8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 179 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
autophagosome maturation	6	12.8×	2e-03
mitophagy	6	11.6×	3e-03
proteasome-mediated ubiquitin-dependent protein catabolic process	14	4.5×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

37 predictions. Top by Δscore:

Variant	Effect	Δscore
13:41194447:AC:A	donor_gain	0.5200
13:41194448:CC:C	donor_gain	0.5200
13:41194448:CCCT:C	donor_gain	0.5000
13:41190526:C:CC	acceptor_gain	0.4700
13:41190525:A:AC	acceptor_gain	0.4600
13:41193393:T:TA	donor_gain	0.4000
13:41194367:C:A	acceptor_gain	0.3900
13:41194366:ACTGC:A	acceptor_gain	0.3700
13:41193340:CAGG:C	donor_gain	0.3200
13:41194368:T:A	acceptor_gain	0.3200
13:41194153:C:T	acceptor_gain	0.3100
13:41193239:A:T	donor_gain	0.3000
13:41194152:CCG:C	acceptor_gain	0.3000
13:41194442:GACT:G	donor_loss	0.3000
13:41194443:ACT:A	donor_loss	0.3000
13:41194444:CT:C	donor_loss	0.3000
13:41194445:TCACC:T	donor_loss	0.3000
13:41194446:CACCC:C	donor_loss	0.3000
13:41194448:CCCTC:C	donor_loss	0.3000
13:41194441:TGAC:T	donor_loss	0.2900
13:41190525:ACT:A	acceptor_gain	0.2800
13:41193319:TGG:T	donor_gain	0.2800
13:41193393:TCTTC:T	donor_gain	0.2800
13:41194050:C:CT	donor_gain	0.2800
13:41194153:C:CT	acceptor_gain	0.2800
13:41194051:C:CT	donor_gain	0.2600
13:41194449:C:T	donor_loss	0.2500
13:41194460:C:CA	donor_gain	0.2500
13:41194450:C:T	donor_gain	0.2400
13:41194449:CC:C	donor_gain	0.2300

AlphaMissense

4508 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:41192475:A:G	W595R	0.999
13:41192475:A:T	W595R	0.999
13:41192628:A:G	W544R	0.999
13:41192628:A:T	W544R	0.999
13:41192748:A:G	W504R	0.999
13:41192748:A:T	W504R	0.999
13:41192866:C:A	W464C	0.999
13:41192866:C:G	W464C	0.999
13:41192868:A:G	W464R	0.999
13:41192868:A:T	W464R	0.999
13:41193959:A:G	F100S	0.999
13:41192549:A:G	L570P	0.998
13:41192626:C:A	W544C	0.998
13:41192626:C:G	W544C	0.998
13:41192649:A:C	Y537D	0.998
13:41192746:C:A	W504C	0.998
13:41192746:C:G	W504C	0.998
13:41192799:A:C	Y487D	0.998
13:41192889:A:C	Y457D	0.998
13:41193015:A:G	W415R	0.998
13:41193015:A:T	W415R	0.998
13:41193981:A:G	C93R	0.998
13:41193986:G:T	A91D	0.998
13:41193990:C:G	A90P	0.998
13:41194058:A:T	I67N	0.998
13:41192473:C:A	W595C	0.997
13:41192473:C:G	W595C	0.997
13:41192552:A:G	L569P	0.997
13:41192627:C:G	W544S	0.997
13:41192933:C:T	G442E	0.997

dbSNP variants (sampled 300 via entrez): RS1000055195 (13:41194611 C>T), RS1002146520 (13:41193177 G>T), RS1002812925 (13:41195845 G>A), RS1003143068 (13:41194552 G>C,T), RS1003449241 (13:41194275 G>C), RS1003938334 (13:41194240 G>A,C,T), RS1005333947 (13:41189445 G>A), RS1005782464 (13:41190065 C>T), RS1006239497 (13:41195250 C>G), RS1006335270 (13:41191138 A>C,G), RS1006711308 (13:41191549 T>C), RS1007788572 (13:41191906 T>C), RS1008296055 (13:41191613 A>G), RS1010124068 (13:41191023 G>A), RS1010570062 (13:41191389 C>T)

Disease associations

OMIM: gene MIM:617739 | disease phenotypes: MIM:157900

GenCC curated gene-disease

Mondo (1): Mobius syndrome (MONDO:0008006)

Orphanet (1): Moebius syndrome (Orphanet:570)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020331	Mobius Syndrome	C07.465.299.825; C10.292.319.825; C10.292.562.700.375.750; C11.590.436.400.750; C16.131.077.578; C16.614.595

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	3
Valproic Acid	decreases expression, decreases methylation	3
Air Pollutants	decreases expression, increases abundance	2
Cisplatin	affects cotreatment, increases expression, affects expression	2
Formaldehyde	decreases expression	2
Cyclosporine	decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
testosterone undecanoate	affects cotreatment, decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
ferrous chloride	decreases expression	1
hydroquinone	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
beta-methylcholine	affects expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Acetaminophen	decreases expression	1
Azathioprine	decreases expression	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Lipopolysaccharides	increases expression, decreases expression, affects response to substance	1
Phenylmercuric Acetate	decreases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03059420	Not specified	RECRUITING	Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies