TMEM107

Summary

TMEM107 (transmembrane protein 107, HGNC:28128) is a protein-coding gene on chromosome 17p13.1, encoding Transmembrane protein 107 (Q6UX40). Plays a role in cilia formation and embryonic patterning.

This gene encodes a transmembrane protein and component of the primary cilia transition zone. The encoded protein regulates ciliogenesis and ciliary protein composition. Human fibroblasts expressing a mutant allele of this gene exhibit reduced numbers of cilia, altered cilia length, and impaired sonic hedgehog signaling. In human patients, different mutations in this gene cause different ciliopathies, including Meckel-Gruber syndrome and orofaciodigital syndrome.

Source: NCBI Gene 84314 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Meckel syndrome 13 (Strong, GenCC) — +3 more curated relationships
• GWAS associations: 2
• Clinical variants (ClinVar): 51 total — 1 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 71
• MANE Select transcript: NM_183065

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28128
Approved symbol	TMEM107
Name	transmembrane protein 107
Location	17p13.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC10744, JBTS29, MKS13
Ensembl gene	ENSG00000179029
Ensembl biotype	protein_coding
OMIM	616183
Entrez	84314

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 11 protein_coding, 3 retained_intron

ENST00000316425, ENST00000417073, ENST00000431792, ENST00000437139, ENST00000449985, ENST00000526920, ENST00000529756, ENST00000532998, ENST00000533070, ENST00000867625, ENST00000867626, ENST00000927579, ENST00000927580, ENST00000927581

RefSeq mRNA: 5 — MANE Select: NM_183065 NM_001351278, NM_001351279, NM_001351280, NM_032354, NM_183065

CCDS: CCDS11132, CCDS45607, CCDS86571, CCDS86572

Canonical transcript exons

ENST00000437139 — 5 exons

Exon	Start	End
ENSE00001236177	8175959	8176026
ENSE00001621940	8175757	8175857
ENSE00002159931	8176200	8176380
ENSE00002190566	8172457	8174272
ENSE00003616305	8174520	8174616

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 94.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.9546 / max 71.7681, expressed in 1794 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
164413	12.7757	1794
164412	0.1789	64

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	94.98	gold quality
bronchus	UBERON:0002185	94.16	gold quality
right uterine tube	UBERON:0001302	92.62	gold quality
bone marrow cell	CL:0002092	90.86	gold quality
corpus epididymis	UBERON:0004359	89.46	gold quality
granulocyte	CL:0000094	88.41	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.81	gold quality
caput epididymis	UBERON:0004358	87.48	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.68	gold quality
pituitary gland	UBERON:0000007	86.25	gold quality
ventricular zone	UBERON:0003053	86.06	gold quality
adenohypophysis	UBERON:0002196	85.90	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.76	gold quality
nasal cavity epithelium	UBERON:0005384	85.27	silver quality
kidney epithelium	UBERON:0004819	85.17	silver quality
bone marrow	UBERON:0002371	84.64	gold quality
fallopian tube	UBERON:0003889	84.48	gold quality
stromal cell of endometrium	CL:0002255	84.40	gold quality
decidua	UBERON:0002450	84.14	gold quality
right lobe of thyroid gland	UBERON:0001119	83.31	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.22	gold quality
left lobe of thyroid gland	UBERON:0001120	83.21	gold quality
nucleus accumbens	UBERON:0001882	83.17	gold quality
sural nerve	UBERON:0015488	83.12	gold quality
nasal cavity mucosa	UBERON:0001826	83.11	gold quality
sperm	CL:0000019	83.01	gold quality
thyroid gland	UBERON:0002046	82.83	gold quality
colonic epithelium	UBERON:0000397	82.69	gold quality
tibial nerve	UBERON:0001323	82.58	gold quality
oviduct epithelium	UBERON:0004804	82.34	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-7052	yes	247.08
E-CURD-46	yes	34.33
E-MTAB-8410	yes	29.46
E-ANND-3	yes	11.14

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting TMEM107, 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-1468-3P	99.96	72.74	3797
HSA-MIR-3605-5P	99.96	67.12	932
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-544A	99.84	68.66	1965
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-1264	99.25	66.81	1317
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-4324	99.04	70.14	1569

Literature-anchored findings (GeneRIF, showing 3)

• TMEM107 (2810049P21Rik) is a strong candidate gene for central areolar choroidal dystrophy, CACD (human 17p13). Conclusion is based on a massive expression data set for mouse (103 strains in GeneNetwork.org) and joint analysis of RetNet database. (PMID:19727342)
• This study shows that known MKS loci account for the overwhelming majority of MKS cases but additional loci exist including MKS13 caused by TMEM107 mutation. (PMID:26123494)
• Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid. (PMID:37863656)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem107	ENSDARG00000059150
danio_rerio	tmem107l	ENSDARG00000088398
mus_musculus	Tmem107	ENSMUSG00000020895
rattus_norvegicus	Tmem107	ENSRNOG00000006519

Protein

Protein identifiers

Transmembrane protein 107 — Q6UX40 (reviewed: Q6UX40)

All UniProt accessions (4): Q6UX40, B2RDT5, B3KNL7, E9PIH0

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in cilia formation and embryonic patterning. Requires for normal Sonic hedgehog (Shh) signaling in the neural tube and acts in combination with GLI2 and GLI3 to pattern ventral and intermediate neuronal cell types. During ciliogenesis regulates the ciliary transition zone localization of some MKS complex proteins.

Subunit / interactions. Part of the tectonic-like complex (also named B9 complex). Interacts with TMEM237, TMEM231, MKS1 and TMEM216.

Subcellular location. Membrane. Cell projection. Cilium.

Disease relevance. Meckel syndrome 13 (MKS13) [MIM:617562] A form of Meckel syndrome, a disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. The disease is caused by variants affecting the gene represented in this entry. Orofaciodigital syndrome 16 (OFD16) [MIM:617563] A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD16 features include postaxial polydactyly of the hands and feet, multiple tongue cysts, and dysmorphic features, including frontal narrowing, short palpebral fissures, flat nasal bridge, retrognathia, and low-set ears. Neurologic features include delayed psychomotor development and severe cognitive impairment. OFD16 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6UX40-1	1	yes
Q6UX40-2	2
Q6UX40-3	3
Q6UX40-4	4

RefSeq proteins (5): NP_001338207, NP_001338208, NP_001338209, NP_115730, NP_898888* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029248	TMEM107	Family

Pfam: PF14995

UniProt features (12 total): transmembrane region 4, splice variant 4, sequence variant 2, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UX40-F1	94.21	0.89

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 (1): 79

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 314 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_EMBRYONIC_DIGIT_MORPHOGENESIS, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_NEURAL_TUBE_DEVELOPMENT, TERAMOTO_OPN_TARGETS_CLUSTER_6, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_BONE_DEVELOPMENT, GOBP_CILIUM_ORGANIZATION, GOBP_APPENDAGE_DEVELOPMENT, GOBP_ORGANELLE_ASSEMBLY, GOBP_CRANIAL_SKELETAL_SYSTEM_DEVELOPMENT

GO Biological Process (12): detection of nodal flow (GO:0003127), regulation of gene expression (GO:0010468), neural tube patterning (GO:0021532), embryonic digit morphogenesis (GO:0042733), roof of mouth development (GO:0060021), cilium assembly (GO:0060271), craniofacial suture morphogenesis (GO:0097094), protein localization to ciliary transition zone (GO:1904491), non-motile cilium assembly (GO:1905515), determination of left/right symmetry (GO:0007368), cell projection organization (GO:0030030), cilium organization (GO:0044782)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): membrane (GO:0016020), ciliary transition zone (GO:0035869), MKS complex (GO:0036038), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
protein localization to cilium	2
determination of left/right symmetry	1
cellular response to endogenous stimulus	1
gene expression	1
regulation of macromolecule biosynthetic process	1
regionalization	1
neural tube development	1
embryonic limb morphogenesis	1
embryonic morphogenesis	1
anatomical structure development	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
anatomical structure morphogenesis	1
bone morphogenesis	1
cranial skeletal system development	1
cilium assembly	1
determination of bilateral symmetry	1
left/right pattern formation	1
cellular component organization	1
organelle organization	1
plasma membrane bounded cell projection organization	1
binding	1
cilium	1
protein-containing complex	1
ciliary transition zone	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

468 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM107	TMEM216	Q9P0N5	838
TMEM107	TMEM231	Q9H6L2	823
TMEM107	B9D1	Q9UPM9	810
TMEM107	TMEM237	Q96Q45	795
TMEM107	B9D2	Q9BPU9	782
TMEM107	CC2D2A	Q9P2K1	760
TMEM107	NPHP4	O75161	751
TMEM107	TCTN3	Q6NUS6	743
TMEM107	TMEM17	Q86X19	742
TMEM107	CEP290	O15078	710
TMEM107	TCTN1	Q2MV58	704
TMEM107	NPHP1	O15259	699
TMEM107	TCTN2	Q96GX1	696
TMEM107	RPGRIP1L	Q68CZ1	645
TMEM107	TMEM67	Q5HYA8	644

IntAct

134 interactions, top by confidence:

A	B	Type	Score
TMEM107	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	EVI2B	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	GJA8	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	PIGP	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	LHFPL5	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	TMEM234	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	CD79A	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	TMEM51	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	CLSTN3	psi-mi:“MI:0915”(physical association)	0.560
KCNA5	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	MS4A3	psi-mi:“MI:0915”(physical association)	0.560
BIK	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	TMEM106A	psi-mi:“MI:0915”(physical association)	0.560
CCL21	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	SLC30A2	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
PIGP	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	SLC35C2	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	GPX8	psi-mi:“MI:0915”(physical association)	0.560
PGRMC2	TMEM107	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	TMEM139	psi-mi:“MI:0915”(physical association)	0.560
TMEM107	SAR1A	psi-mi:“MI:0915”(physical association)	0.560
EVI2B	TMEM107	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (54): ATP11C (Affinity Capture-MS), TMEM179B (Affinity Capture-MS), PCNXL3 (Affinity Capture-MS), TMEM107 (Affinity Capture-RNA), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid), TMEM107 (Two-hybrid)

ESM2 similar proteins: A0A2R8RY99, A0PK11, A9UL59, B2RVW2, B4L184, B4LC58, B4N5D3, D3ZFW5, O95473, P23290, P35801, P35802, P35803, P36964, P36965, P51674, P56749, P58418, P79826, Q0IIL2, Q0P4G7, Q0VD07, Q11085, Q13491, Q2YDD6, Q53R12, Q5R603, Q5R9K1, Q5R9Q3, Q5R9R3, Q5T9L3, Q5ZLR1, Q6AYR5, Q6CRM6, Q6DID7, Q6P689, Q6UX40, Q754N9, Q7YWX7, Q812E9

Diamond homologs: D3ZFW5, Q3B8H0, Q6NZZ4, Q6UX40, Q9CPV0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	1
Uncertain significance	17
Likely benign	15
Benign	12

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
929290	NR_033294.2(SNORD118):n.39G>C	Pathogenic
929291	NR_033294.2(SNORD118):n.39G>T	Likely pathogenic

SpliceAI

577 predictions. Top by Δscore:

Variant	Effect	Δscore
17:8176198:AC:A	donor_gain	1.0000
17:8176199:CC:C	donor_gain	1.0000
17:8175957:A:AC	donor_gain	0.9900
17:8175958:C:CC	donor_gain	0.9900
17:8175961:AATGT:A	donor_gain	0.9900
17:8176193:GTCTT:G	donor_loss	0.9900
17:8176194:TCTTA:T	donor_loss	0.9900
17:8176195:CTTA:C	donor_loss	0.9900
17:8176196:TTA:T	donor_loss	0.9900
17:8176197:TA:T	donor_loss	0.9900
17:8176198:A:AC	donor_gain	0.9900
17:8176198:A:T	donor_loss	0.9900
17:8176199:C:CC	donor_gain	0.9900
17:8176199:C:G	donor_loss	0.9900
17:8174226:C:CT	acceptor_gain	0.9800
17:8174226:C:T	acceptor_gain	0.9800
17:8174273:C:CC	acceptor_gain	0.9800
17:8175965:T:TA	donor_gain	0.9800
17:8176201:CGGG:C	donor_gain	0.9800
17:8176226:C:CT	donor_gain	0.9800
17:8174271:CA:C	acceptor_gain	0.9700
17:8174277:C:CT	acceptor_gain	0.9700
17:8176227:C:CT	donor_gain	0.9700
17:8174227:A:T	acceptor_gain	0.9600
17:8176041:C:CT	acceptor_gain	0.9600
17:8176042:A:T	acceptor_gain	0.9600
17:8176199:CCCG:C	donor_gain	0.9600
17:8174189:C:T	acceptor_gain	0.9500
17:8174268:GGGCA:G	acceptor_gain	0.9500
17:8174278:A:T	acceptor_gain	0.9500

AlphaMissense

902 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:8175764:G:C	S83R	0.993
17:8175764:G:T	S83R	0.993
17:8175766:T:G	S83R	0.993
17:8175804:C:T	G70D	0.993
17:8175805:C:G	G70R	0.993
17:8176251:G:C	F12L	0.993
17:8176251:G:T	F12L	0.993
17:8176253:A:G	F12L	0.993
17:8174595:G:T	A93E	0.992
17:8175792:C:T	G74E	0.992
17:8174597:A:C	S92R	0.991
17:8174597:A:T	S92R	0.991
17:8174599:T:G	S92R	0.991
17:8175786:G:A	S76F	0.991
17:8175801:A:G	F71S	0.990
17:8176237:G:T	A17E	0.989
17:8176256:G:T	R11S	0.989
17:8175786:G:T	S76Y	0.988
17:8175810:A:G	L68P	0.988
17:8176231:A:G	L19P	0.988
17:8174261:G:T	A122D	0.987
17:8174560:A:G	W105R	0.987
17:8174560:A:T	W105R	0.987
17:8176249:A:G	L13P	0.987
17:8176252:A:G	F12S	0.987
17:8174602:A:G	C91R	0.986
17:8176255:C:G	R11P	0.986
17:8174524:A:G	C117R	0.985
17:8174558:C:A	W105C	0.985
17:8174558:C:G	W105C	0.985

dbSNP variants (sampled 300 via entrez): RS1000034048 (17:8173314 A>C,G), RS1000112036 (17:8173297 G>A,C,T), RS1000124350 (17:8174899 A>G,T), RS1000155740 (17:8174622 G>T), RS1001002400 (17:8173430 A>C,G), RS1001269202 (17:8175092 G>T), RS1001460225 (17:8172047 A>G), RS1002161447 (17:8177495 A>T), RS1002946163 (17:8172194 C>A,G,T), RS1003533122 (17:8176780 T>C), RS1003625495 (17:8176641 G>T), RS1003643562 (17:8176435 G>T), RS1003951650 (17:8173224 A>C,T), RS1004222201 (17:8173230 G>A,C), RS1004388575 (17:8173165 T>C)

Disease associations

OMIM: gene MIM:616183 | disease phenotypes: MIM:617563, MIM:249000, MIM:614561, MIM:617562

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliopathy	Strong	Autosomal recessive
Meckel syndrome 13	Strong	Autosomal recessive
Meckel syndrome	Supportive	Autosomal recessive
orofaciodigital syndrome 16	Limited	Unknown

Mondo (6): orofaciodigital syndrome 16 (MONDO:0033045), Meckel syndrome, type 1 (MONDO:0009571), leukoencephalopathy with calcifications and cysts (MONDO:0013803), Meckel syndrome 13 (MONDO:0033044), ciliopathy (MONDO:0005308), Meckel syndrome (MONDO:0018921)

Orphanet (2): Leukoencephalopathy with calcifications and cysts (Orphanet:542310), Meckel syndrome (Orphanet:564)

HPO phenotypes

71 total (30 of 71 shown, HPO-id order):

HPO	Term
HP:0000003	Multicystic kidney dysplasia
HP:0000007	Autosomal recessive inheritance
HP:0000023	Inguinal hernia
HP:0000028	Cryptorchidism
HP:0000037	Male pseudohermaphroditism
HP:0000062	Ambiguous genitalia
HP:0000068	Urethral atresia
HP:0000073	Ureteral duplication
HP:0000113	Polycystic kidney dysplasia
HP:0000175	Cleft palate
HP:0000221	Furrowed tongue
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000278	Retrognathia
HP:0000293	Full cheeks
HP:0000316	Hypertelorism
HP:0000340	Sloping forehead
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000457	Depressed nasal ridge
HP:0000482	Microcornea
HP:0000488	Retinopathy
HP:0000508	Ptosis
HP:0000518	Cataract
HP:0000528	Anophthalmia
HP:0000532	Abnormal chorioretinal morphology
HP:0000568	Microphthalmia
HP:0000647	Sclerocornea
HP:0000648	Optic atrophy

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST006630_76	Diastolic blood pressure	2.000000e-11
GCST008648_10	Urinary potassium excretion	7.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0009283	potassium measurement

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
C000598644	Leukoencephalopathy Brain Calcifications and Cysts (supp.)
C536133	Meckel syndrome type 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
sodium arsenite	affects expression, decreases expression, increases expression	3
bisphenol A	decreases expression, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Cisplatin	affects cotreatment, increases expression	2
Drugs, Chinese Herbal	decreases expression, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
Cadmium Chloride	decreases expression	2
p-Chloromercuribenzoic Acid	affects cotreatment, decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
sulforaphane	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
jinfukang	affects cotreatment, increases expression	1
2-amino-7-(4-fluoro-2-(6-methoxypyridin-2-yl)phenyl)-4-methyl-7,8-dihydropyrido(4,3-d)pyrimidin-5(6H)-one	decreases expression, increases activity	1
Resveratrol	affects cotreatment, increases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	increases expression	1
Benzene	decreases expression	1
Calcitriol	affects cotreatment, decreases expression	1
Coumestrol	increases expression, affects cotreatment	1
DDT	increases expression	1
Dimethyl Sulfoxide	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00068224	Not specified	COMPLETED	Clinical and Molecular Investigations Into Ciliopathies
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT02699190	Not specified	COMPLETED	LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
NCT03047369	Not specified	RECRUITING	The Myelin Disorders Biorepository Project