TMEM67

Summary

TMEM67 (transmembrane protein 67, HGNC:28396) is a protein-coding gene on chromosome 8q22.1, encoding Meckelin (Q5HYA8). Required for ciliary structure and function.

The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6).

Source: NCBI Gene 91147 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliopathy (Definitive, ClinGen) — +7 more curated relationships
• Clinical variants (ClinVar): 1,433 total — 117 pathogenic, 88 likely-pathogenic
• Phenotypes (HPO): 193
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_153704

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28396
Approved symbol	TMEM67
Name	transmembrane protein 67
Location	8q22.1
Locus type	gene with protein product
Status	Approved
Aliases	MGC26979, JBTS6, NPHP11
Ensembl gene	ENSG00000164953
Ensembl biotype	protein_coding
OMIM	609884
Entrez	91147

Gene structure

Transcript identifiers

Ensembl transcripts: 47 — 19 nonsense_mediated_decay, 13 protein_coding, 12 retained_intron, 3 protein_coding_CDS_not_defined

ENST00000323130, ENST00000409623, ENST00000425545, ENST00000452276, ENST00000453321, ENST00000453906, ENST00000455946, ENST00000474944, ENST00000475305, ENST00000481620, ENST00000496213, ENST00000498673, ENST00000518319, ENST00000518896, ENST00000519845, ENST00000520680, ENST00000521065, ENST00000521222, ENST00000521517, ENST00000523230, ENST00000681998, ENST00000682036, ENST00000682577, ENST00000682624, ENST00000682700, ENST00000682744, ENST00000682804, ENST00000682837, ENST00000682935, ENST00000682984, ENST00000683078, ENST00000683223, ENST00000683238, ENST00000683249, ENST00000683336, ENST00000683362, ENST00000683850, ENST00000683919, ENST00000683953, ENST00000684023, ENST00000684064, ENST00000684089, ENST00000684149, ENST00000684343, ENST00000684416, ENST00000684540, ENST00000684733

RefSeq mRNA: 2 — MANE Select: NM_153704 NM_001142301, NM_153704

CCDS: CCDS6258

Canonical transcript exons

ENST00000453321 — 28 exons

Exon	Start	End
ENSE00001763018	93782395	93782460
ENSE00001784886	93765572	93765646
ENSE00002103295	93754894	93755137
ENSE00002107836	93816372	93818121
ENSE00003458598	93797331	93797470
ENSE00003458645	93765406	93765475
ENSE00003464763	93785222	93785378
ENSE00003467504	93809057	93809161
ENSE00003469218	93786223	93786346
ENSE00003482226	93791263	93791319
ENSE00003491083	93758483	93758576
ENSE00003492818	93795409	93795507
ENSE00003493852	93804762	93804878
ENSE00003514419	93780874	93780982
ENSE00003520135	93755778	93755866
ENSE00003546583	93781658	93781744
ENSE00003550082	93772589	93772651
ENSE00003553174	93787844	93787949
ENSE00003553915	93803604	93803684
ENSE00003567278	93797134	93797233
ENSE00003568312	93795901	93795987
ENSE00003568652	93809785	93809887
ENSE00003623622	93799618	93799758
ENSE00003627194	93763842	93763941
ENSE00003630971	93793198	93793296
ENSE00003634826	93780593	93780747
ENSE00003642495	93808840	93808956
ENSE00003685905	93815305	93815447

Expression profiles

Bgee: expression breadth ubiquitous, 203 present calls, max score 97.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.4226 / max 80.7828, expressed in 1635 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
89757	7.0238	1622
89756	0.3646	172
89758	0.0342	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	97.85	gold quality
right uterine tube	UBERON:0001302	94.98	gold quality
calcaneal tendon	UBERON:0003701	92.20	gold quality
bronchial epithelial cell	CL:0002328	90.96	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.40	gold quality
ventricular zone	UBERON:0003053	89.84	gold quality
bronchus	UBERON:0002185	89.55	gold quality
heart left ventricle	UBERON:0002084	87.58	gold quality
tendon	UBERON:0000043	87.38	gold quality
adenohypophysis	UBERON:0002196	87.38	gold quality
adrenal tissue	UBERON:0018303	87.35	gold quality
oviduct epithelium	UBERON:0004804	87.29	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.14	gold quality
cardiac ventricle	UBERON:0002082	86.91	gold quality
left testis	UBERON:0004533	86.87	gold quality
right testis	UBERON:0004534	86.68	gold quality
mucosa of paranasal sinus	UBERON:0005030	86.34	gold quality
pituitary gland	UBERON:0000007	86.04	gold quality
sperm	CL:0000019	85.95	gold quality
right atrium auricular region	UBERON:0006631	85.88	gold quality
apex of heart	UBERON:0002098	85.80	gold quality
testis	UBERON:0000473	85.71	gold quality
heart	UBERON:0000948	85.53	gold quality
fallopian tube	UBERON:0003889	85.51	gold quality
left lobe of thyroid gland	UBERON:0001120	85.28	gold quality
thyroid gland	UBERON:0002046	85.11	gold quality
right lobe of thyroid gland	UBERON:0001119	84.82	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.70	gold quality
cardiac atrium	UBERON:0002081	84.70	gold quality
left ovary	UBERON:0002119	84.01	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-114	yes	11.08
E-ANND-3	yes	10.21
E-GEOD-124858	no	153.61
E-MTAB-7381	no	144.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

94 targeting TMEM67, 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-5692A	100.00	74.40	6850
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6768-5P	99.92	67.36	1942

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 25)

• mapping to chromosome 8 and possible role in Meckel-Gruber syndrome (PMID:12384791)
• Positional cloning of the Wpk gene suggested a MKS3 candidate gene, TMEM67, for which we identified pathogenic mutations for five MKS3-linked consanguineous families. (PMID:16415887)
• identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6) (PMID:17160906)
• The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. (PMID:17185389)
• Study concluded that MKS1 and MKS3 account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3; cases with no, or milder, CNS phenotypes were only found in MKS3. (PMID:17377820)
• genotyping of MKS1 & MKS3 genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 genes are each responsible for about 7% of MKS cases with various mutations in different populations (PMID:17397051)
• Mutations in MKS3 is associated with Bardet-Biedl syndrome (PMID:18327255)
• Analysis of MKS3 in 14 COACH families identified mutations in 8 (57%). (PMID:19058225)
• Missense mutations within the MKS3 gene are associated with nephronophthisis with liver fibrosis. (PMID:19508969)
• Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia. (PMID:19515853)
• Mutations in MKS3 are responsible for the majority of COACH syndrome, with minor contributions from CC2D2A and RPGRIP1L. (PMID:19574260)
• Data show that knockdown of MKS3 inhibited degradation of mutant SP-C. (PMID:19815549)
• mutation analysis of TMEM67 in Joubert syndrome and related disorders cases and Meckel syndrome fetuses; identification of 20 novel mutations; review of published mutations and discussion of genotype-phenotype correlates (PMID:20232449)
• The Meckel syndrome protein meckelin (TMEM67) is a key regulator of cilia function but is not required for tissue planar polarity. (PMID:23393159)
• Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). (PMID:27434533)
• Low expression of TMEM67 is associated with lymph node metastasis in urothelial carcinoma of the bladder. (PMID:28161324)
• The authors results suggest that Asn242Ser in TMEM67 is a founder mutation in the Iranian population, which might explain a significant proportion of JS cases from eastern Iran. (PMID:28719906)
• Study identified two novel heterozygous mutations (p.Gly132Ala and p.Tyr920ThrfsX40) in the TMEM67 gene in a patient with COACH syndrome. Co-injection into zebrafish embryos of tmem67 morpholinos and RNAs encoding the two mutations show no rescue of the hydrocephalus phenotype. These findings indicate that the two mutations may cause COACH syndrome via altered Wnt signaling, at least in part. (PMID:28860541)
• Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in CEP290, TMEM67, and AHI1. (PMID:29146704)
• Compound heterozygous mutations in TMEM67 cause RHYNS syndrome ranging from early lethality to adults with liver fibrosis. (PMID:29891882)
• This study confirms the diagnosis of Joubert syndrome in a Vietnamese family and expands the mutational spectrum of TMEM67 sequence variations. (PMID:32000717)
• TACC3 promotes prostate cancer cell proliferation and restrains primary cilium formation. (PMID:32156598)
• Association of novel TMEM67 variants with mild phenotypes of high gamma-glutamyl transpeptidase cholestasis and congenital hepatic fibrosis. (PMID:35621037)
• TMEM67 is required for the gating function of the transition zone that controls entry of membrane-associated proteins ARL13B and INPP5E into primary cilia. (PMID:36334440)
• Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report. (PMID:38844949)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem67	ENSDARG00000076752
mus_musculus	Tmem67	ENSMUSG00000049488
rattus_norvegicus	Tmem67	ENSRNOG00000016187
drosophila_melanogaster	CG15923	FBGN0038814
caenorhabditis_elegans		WBGENE00018042

Protein

Protein identifiers

Meckelin — Q5HYA8 (reviewed: Q5HYA8)

Alternative names: Meckel syndrome type 3 protein, Transmembrane protein 67

All UniProt accessions (20): A0A0C4DFP8, A0A7P0MXI9, A0A804HHW8, A0A804HIB2, A0A804HJR8, Q5HYA8, A0A804HJS5, A0A804HJX6, A0A804HKM4, A0A804HKM9, A0A804HL43, A0A804HLK0, C9JHI2, C9JRQ8, E5RG10, E5RH38, F8WCQ6, H0YAR5, H0YB69, H0YC18

UniProt curated annotations — full annotation on UniProt →

Function. Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Is a key regulator of stereociliary bundle orientation. Required for epithelial cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC). Involved in the negative regulation of canonical Wnt signaling, and activation of the non-canonical cascade stimulated by WNT5A. In non-canonical Wnt signaling, it may act as ROR2 coreceptor.

Subunit / interactions. Homodimer. Part of the tectonic-like complex (also named B9 complex). Interacts with DNAJB9, DNAJC10 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity. Interacts (via C-terminus) with FLNA. Interacts with TMEM218. Interacts with WNT5A. Interacts with ROR2.

Subcellular location. Cell membrane. Endoplasmic reticulum membrane. Cell projection. Cilium. Cytoplasm. Cytoskeleton. Cilium basal body.

Tissue specificity. Widely expressed in adult and fetal tissues. Expressed at higher level in spinal cord.

Disease relevance. TMEM67 mutations result in ciliary dysfunction leading to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome influence the clinical outcome. Meckel syndrome 3 (MKS3) [MIM:607361] 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. Joubert syndrome 6 (JBTS6) [MIM:610688] A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. The disease is caused by variants affecting the gene represented in this entry. Bardet-Biedl syndrome 14 (BBS14) [MIM:615991] A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. The gene represented in this entry may act as a disease modifier. TMEM67 variations may influence the expression of Bardet-Biedl syndrome in patients who have causative mutations in other genes. Heterozygosity for a complex mutation in the TMEM67 gene coding for a protein with 2 in cis changes, and homozygosity for a truncating mutation of the CEP290 gene has been found in a patient with Bardet-Biedl syndrome 14. COACH syndrome 1 (COACH1) [MIM:216360] A form of COACH syndrome, a disorder characterized by cerebellar vermis hypoplasia, developmental delay, impaired intellectual development, ataxia, and hepatic fibrosis. Patients present the molar tooth sign, a midbrain-hindbrain malformation pathognomonic for Joubert syndrome and related disorders. Other features, such as coloboma and renal cysts, may be variable. COACH1 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Nephronophthisis 11 (NPHP11) [MIM:613550] A disorder characterized by the association of nephronophthisis with hepatic fibrosis. Nephronophthisis is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical features are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms, especially ocular lesions, are frequent. The disease is caused by variants affecting the gene represented in this entry. RHYNS syndrome (RHYNS) [MIM:602152] An autosomal recessive syndrome characterized by gaze palsy, retinitis pigmentosa, sensorineural hearing loss, hypopituitarism, nephronophthisis, and skeletal dysplasia. The disease is caused by variants affecting the gene represented in this entry.

RefSeq proteins (2): NP_001135773, NP_714915* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR019170	Meckelin	Family

Pfam: PF09773

UniProt features (181 total): sequence variant 58, strand 44, helix 24, disulfide bond 12, intramembrane region 9, topological domain 8, transmembrane region 7, turn 5, mutagenesis site 4, glycosylation site 4, sequence conflict 2, signal peptide 1, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7FH1	ELECTRON MICROSCOPY	3.34

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5HYA8-F1	85.20	0.47

Functional residue map

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

Disulfide bonds (12): 49–62, 65–78, 80–97, 100–114, 117–127, 129–150, 153–170, 173–184, 186–197, 237–246, 253–268, 357–378

Glycosylation sites (4): 141, 179, 242, 318

Mutagenesis-validated functional residues (4):

Position	Phenotype
170	decreased function in non-canonical wnt signaling activation. when expressed in tmem67-null cells does not induce ror2 p
176	does not affect function in non-canonical wnt signaling activation. when expressed in tmem67-null cells it induces ror2
790	decreased function in non-canonical wnt signaling activation. when expressed in tmem67-null cells does not induce ror2 p
979	does not affect function in non-canonical wnt signaling activation. when expressed in tmem67-null cells it induces ror2

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-5620912	Anchoring of the basal body to the plasma membrane
R-HSA-1852241	Organelle biogenesis and maintenance
R-HSA-5617833	Cilium Assembly

MSigDB gene sets: 504 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, GOBP_RESPONSE_TO_ENDOPLASMIC_RETICULUM_STRESS, GOBP_NON_CANONICAL_WNT_SIGNALING_PATHWAY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_CILIUM_ORGANIZATION, GOBP_REGULATION_OF_CELL_CYCLE, GOCC_CENTROSOME, GOBP_REGULATION_OF_CENTROSOME_CYCLE, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (5): negative regulation of centrosome duplication (GO:0010826), non-canonical Wnt signaling pathway (GO:0035567), ERAD pathway (GO:0036503), cilium assembly (GO:0060271), cell projection organization (GO:0030030)

GO Molecular Function (3): filamin binding (GO:0031005), obsolete unfolded protein binding (GO:0051082), protein binding (GO:0005515)

GO Cellular Component (13): endoplasmic reticulum membrane (GO:0005789), centrosome (GO:0005813), cytoplasmic vesicle membrane (GO:0030659), ciliary transition zone (GO:0035869), MKS complex (GO:0036038), ciliary membrane (GO:0060170), cytoplasm (GO:0005737), endoplasmic reticulum (GO:0005783), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Assembly of the 9+0 primary cilium	1
Organelle biogenesis and maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cilium	2
regulation of centrosome duplication	1
negative regulation of centrosome cycle	1
centrosome duplication	1
Wnt signaling pathway	1
proteasomal protein catabolic process	1
response to endoplasmic reticulum stress	1
response to chemical	1
axoneme assembly	1
intraciliary transport involved in cilium assembly	1
cilium organization	1
protein localization to cilium	1
organelle assembly	1
trans-Golgi to periciliary membrane compartment transport	1
plasma membrane bounded cell projection assembly	1
ciliary transition zone assembly	1
cellular component organization	1
cytoskeletal protein binding	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
centriole	1
microtubule organizing center	1
vesicle membrane	1
cytoplasmic vesicle	1
protein-containing complex	1
ciliary transition zone	1
cell projection membrane	1
bounding membrane of organelle	1
intracellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1

Protein interactions and networks

STRING

924 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM67	TMEM216	Q9P0N5	994
TMEM67	NPHP1	O15259	992
TMEM67	CEP290	O15078	991
TMEM67	CC2D2A	Q9P2K1	990
TMEM67	B9D1	Q9UPM9	987
TMEM67	MKS1	Q9NXB0	987
TMEM67	B9D2	Q9BPU9	975
TMEM67	TMEM231	Q9H6L2	973
TMEM67	RPGRIP1L	Q68CZ1	970
TMEM67	TCTN2	Q96GX1	968
TMEM67	TCTN1	Q2MV58	968
TMEM67	AHI1	Q8N157	967
TMEM67	NPHP4	O75161	967
TMEM67	TMEM237	Q96Q45	939
TMEM67	TCTN3	Q6NUS6	925

IntAct

105 interactions, top by confidence:

A	B	Type	Score
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
TMEM67	APP	psi-mi:“MI:0915”(physical association)	0.560
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
TMEM30B	KLRG2	psi-mi:“MI:0914”(association)	0.530
SPINK4	PLXNA2	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
TAFA4	NRP1	psi-mi:“MI:0914”(association)	0.530
CD1E	SUSD5	psi-mi:“MI:0914”(association)	0.530
TCTN2	TPST2	psi-mi:“MI:0914”(association)	0.530
ADAM33	LRP5	psi-mi:“MI:0914”(association)	0.530
SCGB1D4	EGFR	psi-mi:“MI:0914”(association)	0.530
DEFB121	COL6A2	psi-mi:“MI:0914”(association)	0.530
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.530
CLGN	NPC1	psi-mi:“MI:0914”(association)	0.530
NRN1	SLC1A1	psi-mi:“MI:0914”(association)	0.530
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
TMPRSS11B		psi-mi:“MI:0914”(association)	0.350
TMEM30A	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
LYPD3	CLASP2	psi-mi:“MI:0914”(association)	0.350
SLC22A9	GPR89A	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350

BioGRID (165): TMEM67 (Affinity Capture-MS), TMEM67 (Affinity Capture-MS), TMEM67 (Affinity Capture-MS), TMEM67 (Affinity Capture-MS), ABCD3 (Proximity Label-MS), AKAP1 (Proximity Label-MS), ATP6AP1 (Proximity Label-MS), ATP6AP2 (Proximity Label-MS), ATP6V0A1 (Proximity Label-MS), CAMLG (Proximity Label-MS), CCDC47 (Proximity Label-MS), CKAP4 (Proximity Label-MS), DDX54 (Proximity Label-MS), ERLIN2 (Proximity Label-MS), HM13 (Proximity Label-MS)

ESM2 similar proteins: A5PJN2, B1H1F9, B4URD6, B6CVD7, O18823, O43556, O43909, O56140, O70258, P0C152, P28039, P97259, Q01H84, Q08834, Q09328, Q28F39, Q29S03, Q2F4V2, Q4R5B1, Q5HYA8, Q5RAP2, Q6AXF6, Q6DD71, Q6DPZ9, Q6DQ19, Q6DQ21, Q6J8E7, Q6YAT4, Q7SEY9, Q7T3D1, Q7X9I4, Q7YTU4, Q86YB8, Q8BR76, Q8IZ81, Q8NBP0, Q8QPL1, Q8R180, Q8R2E9, Q8R3N6

Diamond homologs: P0C152, Q5HYA8, Q8BR76

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 136 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
Antigen Presentation: Folding, assembly and peptide loading of class I MHC	6	27.5×	3e-05
Beta defensins	6	19.0×	1e-04
Defensins	6	16.6×	2e-04
Interferon gamma signaling	7	10.2×	5e-04
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	8	8.1×	5e-04

GO biological processes:

GO term	Partners	Fold	FDR
peptide antigen assembly with MHC class II protein complex	5	45.0×	3e-05
positive regulation of T cell mediated cytotoxicity	8	34.9×	5e-08
antigen processing and presentation of exogenous peptide antigen via MHC class II	5	23.2×	4e-04
positive regulation of immune response	5	20.6×	5e-04
positive regulation of T cell activation	5	18.9×	7e-04
defense response to Gram-negative bacterium	6	8.6×	3e-03
adaptive immune response	9	6.5×	1e-03
immune response	11	4.4×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

1433 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	117
Likely pathogenic	88
Uncertain significance	497
Likely benign	515
Benign	52

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1065634	NM_153704.6(TMEM67):c.230C>A (p.Ser77Ter)	Pathogenic
1073371	NM_153704.6(TMEM67):c.2087T>C (p.Leu696Pro)	Pathogenic
1252092	NM_153704.6(TMEM67):c.2306del (p.Leu769fs)	Pathogenic
1252093	NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)	Pathogenic
1252094	NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr)	Pathogenic
1319812	NM_153704.6(TMEM67):c.1960+2T>C	Pathogenic
1323695	NM_153704.6(TMEM67):c.1289-2del	Pathogenic
1352682	NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter)	Pathogenic
1368	NM_153704.6(TMEM67):c.2315_2322+4delinsG	Pathogenic
1369	NM_153704.6(TMEM67):c.1127A>C (p.Gln376Pro)	Pathogenic
1372	NM_153704.6(TMEM67):c.2439+5G>C	Pathogenic
1374490	NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter)	Pathogenic
1375	NM_153704.6(TMEM67):c.1961-2A>C	Pathogenic
1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	Pathogenic
1377709	NM_153704.6(TMEM67):c.683_689del (p.Lys228fs)	Pathogenic
1379	NM_153704.6(TMEM67):c.2556+1G>T	Pathogenic
1380	NM_153704.6(TMEM67):c.312+5G>A	Pathogenic
1382	NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser)	Pathogenic
1384	NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu)	Pathogenic
1385	NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg)	Pathogenic
1386	NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter)	Pathogenic
1390145	NM_153704.6(TMEM67):c.1638del (p.Gly545_Trp546insTer)	Pathogenic
1394423	NM_153704.6(TMEM67):c.312+2T>G	Pathogenic
1411457	NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter)	Pathogenic
1433508	NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA (p.Val309Ter)	Pathogenic
1453206	NM_153704.6(TMEM67):c.1638G>A (p.Trp546Ter)	Pathogenic
1454299	NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter)	Pathogenic
1454745	NM_153704.6(TMEM67):c.996_1014del (p.Phe332fs)	Pathogenic
1456259	NC_000008.10:g.(?94821048)(94822135_?)del	Pathogenic
1458833	NM_153704.6(TMEM67):c.2345A>G (p.His782Arg)	Pathogenic

SpliceAI

4566 predictions. Top by Δscore:

Variant	Effect	Δscore
8:93755135:GAG:G	donor_gain	1.0000
8:93755138:G:GG	donor_gain	1.0000
8:93755138:GTAAG:G	donor_loss	1.0000
8:93755906:GTA:G	donor_gain	1.0000
8:93763831:A:AG	acceptor_gain	1.0000
8:93763832:A:G	acceptor_gain	1.0000
8:93765476:G:GG	donor_gain	1.0000
8:93772583:TTACA:T	acceptor_loss	1.0000
8:93772584:TACA:T	acceptor_loss	1.0000
8:93772586:CA:C	acceptor_loss	1.0000
8:93772587:A:AG	acceptor_gain	1.0000
8:93772587:A:C	acceptor_loss	1.0000
8:93772587:AG:A	acceptor_gain	1.0000
8:93772587:AGG:A	acceptor_gain	1.0000
8:93772588:G:GA	acceptor_gain	1.0000
8:93772588:GG:G	acceptor_gain	1.0000
8:93772588:GGG:G	acceptor_gain	1.0000
8:93772588:GGGC:G	acceptor_gain	1.0000
8:93772588:GGGCA:G	acceptor_gain	1.0000
8:93772647:GTTGG:G	donor_gain	1.0000
8:93772648:TTGG:T	donor_gain	1.0000
8:93772648:TTGGG:T	donor_loss	1.0000
8:93772650:GG:G	donor_gain	1.0000
8:93772651:GG:G	donor_gain	1.0000
8:93772651:GGT:G	donor_loss	1.0000
8:93772652:G:GC	donor_loss	1.0000
8:93772652:G:GG	donor_gain	1.0000
8:93772653:TAAG:T	donor_loss	1.0000
8:93781652:A:AG	acceptor_gain	1.0000
8:93781653:A:G	acceptor_gain	1.0000

AlphaMissense

6566 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:93797376:G:C	R669T	0.999
8:93797399:T:A	W677R	0.999
8:93797399:T:C	W677R	0.999
8:93797366:A:C	S666R	0.998
8:93797368:C:A	S666R	0.998
8:93797368:C:G	S666R	0.998
8:93797372:T:A	W668R	0.998
8:93797372:T:C	W668R	0.998
8:93797376:G:T	R669I	0.998
8:93797377:A:C	R669S	0.998
8:93797377:A:T	R669S	0.998
8:93804765:T:C	S776P	0.998
8:93804796:G:A	G786E	0.998
8:93804811:G:A	G791D	0.998
8:93797194:T:A	W641R	0.997
8:93797194:T:C	W641R	0.997
8:93797390:G:C	A674P	0.997
8:93803672:C:G	C770W	0.997
8:93803679:A:C	S773R	0.997
8:93803681:T:A	S773R	0.997
8:93803681:T:G	S773R	0.997
8:93809872:A:C	S917R	0.997
8:93809874:C:A	S917R	0.997
8:93809874:C:G	S917R	0.997
8:93797196:G:C	W641C	0.996
8:93797196:G:T	W641C	0.996
8:93803670:T:C	C770R	0.996
8:93804865:T:C	L809P	0.996
8:93797191:G:C	D640H	0.995
8:93804795:G:A	G786R	0.995

dbSNP variants (sampled 300 via entrez): RS1000122389 (8:93784339 C>T), RS1000224211 (8:93826376 G>A,T), RS1000261528 (8:93790499 C>T), RS1000262173 (8:93784532 T>C), RS1000280591 (8:93778027 C>A,G,T), RS1000364618 (8:93754576 G>C), RS1000399542 (8:93773359 G>T), RS1000408789 (8:93830037 A>G), RS1000430654 (8:93773143 A>C), RS1000470544 (8:93826552 G>A,C), RS1000470934 (8:93756947 G>A), RS1000553877 (8:93811598 A>G), RS1000581019 (8:93802581 T>G), RS1000609951 (8:93778223 C>T), RS1000649347 (8:93804374 G>A,T)

Disease associations

OMIM: gene MIM:609884 | disease phenotypes: MIM:602152, MIM:607361, MIM:610688, MIM:613550, MIM:615991, MIM:213300, MIM:249000, MIM:216360, MIM:108600, MIM:256100, MIM:209900

GenCC curated gene-disease

Disease	Classification	Inheritance
COACH syndrome 1	Definitive	Autosomal recessive
Meckel syndrome, type 3	Definitive	Autosomal recessive
nephronophthisis 11	Definitive	Autosomal recessive
Joubert syndrome 6	Strong	Autosomal recessive
ciliopathy	Strong	Autosomal recessive
Joubert syndrome	Supportive	Autosomal recessive
Meckel syndrome	Supportive	Autosomal recessive
Senior-Boichis syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
ciliopathy	Definitive	AR

Mondo (29): RHYNS syndrome (MONDO:0011202), Meckel syndrome, type 3 (MONDO:0011821), Joubert syndrome 6 (MONDO:0012539), nephronophthisis 11 (MONDO:0013302), Bardet-Biedl syndrome 14 (MONDO:0014442), Joubert syndrome (MONDO:0018772), Meckel syndrome (MONDO:0018921), COACH syndrome 1 (MONDO:0800103), spastic ataxia (MONDO:0017845), Joubert syndrome and related disorders (MONDO:0015369), kidney disorder (MONDO:0005240), nephronophthisis (MONDO:0019005), coloboma (MONDO:0001476), cystic kidney disease (MONDO:0002473), pathologic nystagmus (MONDO:0004843)

Orphanet (15): Bardet-Biedl syndrome (Orphanet:110), RHYNS syndrome (Orphanet:140976), Joubert syndrome with hepatic defect (Orphanet:1454), Isolated Joubert syndrome (Orphanet:475), Meckel syndrome (Orphanet:564), Senior-Boichis syndrome (Orphanet:84081), Spastic ataxia (Orphanet:316226), Joubert syndrome and related disorders (Orphanet:140874), Nephronophthisis (Orphanet:655), Cerebellar malformation (Orphanet:182061), OBSOLETE: Ocular coloboma (Orphanet:194), Atypical hemolytic uremic syndrome (Orphanet:2134), Ciliopathy (Orphanet:363250), Coloboma of iris (Orphanet:98944), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

193 total (30 of 193 shown, HPO-id order):

HPO	Term
HP:0000002	Abnormality of body height
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:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000090	Nephronophthisis
HP:0000092	Renal tubular atrophy
HP:0000103	Polyuria
HP:0000107	Renal cyst
HP:0000108	Renal corticomedullary cysts
HP:0000112	Nephropathy
HP:0000122	Unilateral renal agenesis
HP:0000154	Wide mouth
HP:0000175	Cleft palate
HP:0000202	Orofacial cleft
HP:0000221	Furrowed tongue
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000276	Long face
HP:0000293	Full cheeks
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000340	Sloping forehead

GWAS associations

0 associations (top):

MeSH disease descriptors (17)

Descriptor	Name	Tree numbers
D065766	Atypical Hemolytic Uremic Syndrome	C12.050.351.968.419.936.463.500; C12.200.777.419.936.463.500; C12.950.419.936.463.500; C15.378.050.141.610.500; C15.378.140.855.925.500.500; C15.378.243.937.925.500.500
D020788	Bardet-Biedl Syndrome	C10.228.140.617.200; C11.270.684.624; C16.131.077.245.125; C16.320.184.125
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D007674	Kidney Diseases	C12.050.351.968.419; C12.200.777.419; C12.950.419
D052177	Kidney Diseases, Cystic	C12.050.351.968.419.403; C12.200.777.419.403; C12.950.419.403
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400
D016104	Oligohydramnios	C12.050.703.560
D010195	Pancreatitis	C06.689.750
D010538	Peritonitis	C01.463.600; C06.844.640
D051437	Renal Insufficiency	C12.050.351.968.419.780; C12.200.777.419.780; C12.950.419.780
C567141	Bardet-Biedl Syndrome 14 (supp.)
C537689	Joubert syndrome 6 (supp.)
C536132	Meckel syndrome type 3 (supp.)
C537612	RHYNS syndrome (supp.)
C564815	Spastic Ataxia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression, increases methylation	1
tris(2-butoxyethyl) phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
ochratoxin A	decreases acetylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
avobenzone	decreases expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression	1
eprenetapopt	affects expression, affects reaction	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	increases abundance, increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	decreases expression	1
Smoke	increases abundance, increases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Cyclosporine	increases expression	1
Aflatoxin M1	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 finite cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C7LK	GM27987	Finite cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00067990	PHASE4	COMPLETED	Angiotensin II Blockade for Chronic Allograft Nephropathy
NCT00117078	PHASE4	COMPLETED	Aranesp® Monthly Preference Study - 2
NCT00117130	PHASE4	COMPLETED	Study to Evaluate Effectiveness of Aranesp®
NCT00132431	PHASE4	COMPLETED	START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism
NCT00140985	PHASE4	COMPLETED	Antiproteinuric Efficacy of Losartan Potassium in Patients With Non-Diabetic Proteinuric Renal Diseases (0954-213)
NCT00246129	PHASE4	COMPLETED	CamTac Trial:Campath-Tacrolimus vs IL2R MoAb/Tacrolimus/MMF in Renal Transplantation
NCT00275535	PHASE4	COMPLETED	The Comparison of Tacrolimus and Sirolimus Immunosuppression Based Drug Regimens in Kidney Transplant Recipients
NCT00282217	PHASE4	COMPLETED	Study Evaluating Sirolimus in the Treatment of Kidney Transplant
NCT00289614	PHASE4	COMPLETED	Patients With Renal Impairment and Diabetes Undergoing Computed Tomography (CT)
NCT00290069	PHASE4	UNKNOWN	Renal Function Optimization With Mycophenolate Mofetil (MMF) Immunosuppressor Regimes (ALHAMBRA)
NCT00338468	PHASE4	TERMINATED	A Study to Assess Disability in Anemic Elderly Patients With Kidney Disease Receiving PROCRIT (Epoetin Alfa)
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00379899	PHASE4	COMPLETED	ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00443508	PHASE4	UNKNOWN	Reduction or Discontinuation of CNI’s With Conversion to Everolimus-Based Immunosuppresion
NCT00452478	PHASE4	TERMINATED	Conversion From Standard Phosphate Binder Therapy to Fosrenol® (Lanthanum Carbonate) in Chronic Kidney Disease Stage 5
NCT00492518	PHASE4	COMPLETED	Acetylcysteine, Theophylline, and a Combination of Both in the Prophylaxis of Contrast-Induced Nephropathy
NCT00505102	PHASE4	UNKNOWN	Safe Renal Function In Long Term Heart Transplanted Patients
NCT00526331	PHASE4	COMPLETED	Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy
NCT00688480	PHASE4	COMPLETED	Do Xanthine Oxidase Inhibitors Reduce Both Left Ventricular Hypertrophy and Endothelial Dysfunction in Cardiovascular Patients With Renal Dysfunction?
NCT00863707	PHASE4	COMPLETED	A Study of the Safety and Tolerance of Regadenoson in Subjects With Renal Impairment
NCT01101698	PHASE4	UNKNOWN	Vitamin K2 and Vessel Calcification in Chronic Kidney Disease Patients
NCT01150201	PHASE4	COMPLETED	Aliskiren Combined With Losartan in Proteinuric, Non-diabetic Chronic Kidney Disease
NCT01155141	PHASE4	COMPLETED	Idiopathic Focal Segmental Glomerulosclerosis (FSGS) and Treatment With ACTH
NCT01228279	PHASE4	COMPLETED	Sympathetic Activity in Patients With End-stage Renal Disease on Peritoneal Dialysis
NCT01334333	PHASE4	COMPLETED	Comparison of Medication Adherence Between Once and Twice Daily Tacrolimus in Stable Renal Transplant Recipients
NCT01437943	PHASE4	TERMINATED	Effect of Short Term Aliskiren Treatment in Kidney Transplant Patients
NCT01545479	PHASE4	COMPLETED	Increased Renal Oxygenation and Angiotensin Converting Enzyme Inhibition
NCT01614431	PHASE4	COMPLETED	N Acetyl Cysteine for Cystinosis Patients
NCT01631149	PHASE4	COMPLETED	Effect of Deep BLock on Intraoperative Surgical Conditions
NCT01722513	PHASE4	UNKNOWN	Efficacy and Safety of Alprostadil Prevent Contrast Induced Nephropathy
NCT01985360	PHASE4	COMPLETED	ISCHEMIA-Chronic Kidney Disease Trial
NCT02311010	PHASE4	UNKNOWN	Practical Use of Advagraf de Novo After Kidney Transplantation According to Recipient Genetic Polymorphism
NCT02413073	PHASE4	COMPLETED	Whole Body Vibration in Kidney Disease
NCT02444013	PHASE4	UNKNOWN	Folic Acid for Prevention of Contrast Induced Nephropathy
NCT02663713	PHASE4	COMPLETED	A Randomized, Pharmacodynamic Comparison of Low Dose Ticagrelor to Clopidogrel in Patients With Prior Myocardial Infarction
NCT02707809	PHASE4	COMPLETED	Effects of Dexmedetomidine on Microcirculation of Kidney Transplant Recipient
NCT02761577	PHASE4	COMPLETED	A Prospective Study on Incidence and Prevention of Contrast-induced Nephropathy in Croatia
NCT03029351	PHASE4	TERMINATED	GLP-1 Receptor Agonist Therapy and Albuminuria in Patients With Type 2 Diabetes