TMEM17

Summary

TMEM17 (transmembrane protein 17, HGNC:26623) is a protein-coding gene on chromosome 2p15, encoding Transmembrane protein 17 (Q86X19). Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes.

Involved in non-motile cilium assembly. Predicted to be located in ciliary membrane. Predicted to be part of MKS complex. Predicted to be active in ciliary transition zone.

Source: NCBI Gene 200728 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 16 total
• MANE Select transcript: NM_198276

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26623
Approved symbol	TMEM17
Name	transmembrane protein 17
Location	2p15
Locus type	gene with protein product
Status	Approved
Aliases	FLJ34583
Ensembl gene	ENSG00000186889
Ensembl biotype	protein_coding
OMIM	614950
Entrez	200728

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 retained_intron

ENST00000335390, ENST00000479763, ENST00000494919, ENST00000944682

RefSeq mRNA: 1 — MANE Select: NM_198276 NM_198276

CCDS: CCDS1871

Canonical transcript exons

ENST00000335390 — 4 exons

Exon	Start	End
ENSE00001332049	62502437	62502550
ENSE00001332061	62500218	62501487
ENSE00001843518	62506030	62506195
ENSE00003525079	62502691	62502794

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 87.68.

FANTOM5 (CAGE): breadth broad, TPM avg 1.1177 / max 13.9922, expressed in 709 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
28690	1.1177	709

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	87.68	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.62	gold quality
bronchial epithelial cell	CL:0002328	87.46	gold quality
oviduct epithelium	UBERON:0004804	86.33	gold quality
bronchus	UBERON:0002185	85.95	gold quality
islet of Langerhans	UBERON:0000006	83.17	gold quality
decidua	UBERON:0002450	82.23	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.97	gold quality
caput epididymis	UBERON:0004358	81.10	gold quality
esophagus squamous epithelium	UBERON:0006920	79.86	gold quality
tibia	UBERON:0000979	79.79	gold quality
pigmented layer of retina	UBERON:0001782	79.08	gold quality
hypothalamus	UBERON:0001898	79.02	gold quality
mucosa of paranasal sinus	UBERON:0005030	77.27	gold quality
prefrontal cortex	UBERON:0000451	76.83	gold quality
nucleus accumbens	UBERON:0001882	76.80	gold quality
entorhinal cortex	UBERON:0002728	75.98	gold quality
fallopian tube	UBERON:0003889	75.73	gold quality
caudate nucleus	UBERON:0001873	75.45	gold quality
stromal cell of endometrium	CL:0002255	75.36	gold quality
pancreas	UBERON:0001264	75.17	gold quality
right adrenal gland cortex	UBERON:0035827	74.98	gold quality
right uterine tube	UBERON:0001302	74.96	gold quality
ventricular zone	UBERON:0003053	74.61	gold quality
right adrenal gland	UBERON:0001233	74.04	gold quality
putamen	UBERON:0001874	74.02	gold quality
frontal cortex	UBERON:0001870	74.00	gold quality
Brodmann (1909) area 46	UBERON:0006483	73.98	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	73.86	gold quality
neocortex	UBERON:0001950	73.62	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting TMEM17, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-4778-3P	99.93	70.40	1818
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-6848-3P	99.64	66.49	885
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-329-5P	99.27	68.11	1597
HSA-MIR-6843-3P	99.26	66.42	915
HSA-MIR-296-3P	99.21	66.56	474
HSA-MIR-323B-3P	99.14	68.89	725
HSA-MIR-4724-5P	98.87	67.75	1324
HSA-MIR-4646-3P	98.65	66.98	693
HSA-MIR-299-5P	98.56	71.14	1140
HSA-MIR-6773-3P	98.17	65.51	1213
HSA-MIR-376C-3P	97.63	68.88	1263
HSA-MIR-9851-5P	97.57	67.49	1067
HSA-MIR-4642	97.52	67.60	916

Literature-anchored findings (GeneRIF, showing 1)

• TMEM17 Promotes Tumor Progression in Glioblastoma by Activating the PI3K/AKT Pathway. (PMID:39206901)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem17	ENSDARG00000116334
mus_musculus	Tmem17	ENSMUSG00000049904
rattus_norvegicus	Tmem17	ENSRNOG00000009220
drosophila_melanogaster	TMEM216	FBGN0037614
drosophila_melanogaster	CG11760	FBGN0037615
caenorhabditis_elegans		WBGENE00194710

Paralogs (2): TMEM80 (ENSG00000177042), TMEM216 (ENSG00000187049)

Protein

Protein identifiers

Transmembrane protein 17 — Q86X19 (reviewed: Q86X19)

All UniProt accessions (1): Q86X19

UniProt curated annotations — full annotation on UniProt →

Function. Transmembrane component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.

Subunit / interactions. Part of the tectonic-like complex (also named B9 complex).

Subcellular location. Cell projection. Cilium membrane.

Similarity. Belongs to the TMEM17 family.

RefSeq proteins (1): NP_938017* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019184	Uncharacterised_TM-17	Family

Pfam: PF09799

UniProt features (9 total): transmembrane region 4, glycosylation site 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86X19-F1	86.20	0.62

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): 13, 23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 73 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GOBP_PROTEIN_LOCALIZATION_TO_CILIUM, CAGCTG_AP4_Q5, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, MYOD_01, GOBP_CILIUM_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_SMOOTHENED_SIGNALING_PATHWAY, RFX1_02, GOBP_CELL_PROJECTION_ORGANIZATION, GOCC_CELL_PROJECTION_MEMBRANE, GOCC_CILIARY_TRANSITION_ZONE, GOCC_PLASMA_MEMBRANE_REGION, GOCC_CILIARY_MEMBRANE

GO Biological Process (4): smoothened signaling pathway (GO:0007224), cilium assembly (GO:0060271), non-motile cilium assembly (GO:1905515), cell projection organization (GO:0030030)

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

GO Cellular Component (7): ciliary transition zone (GO:0035869), MKS complex (GO:0036038), ciliary membrane (GO:0060170), plasma membrane (GO:0005886), cilium (GO:0005929), membrane (GO:0016020), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cilium	2
cell surface receptor signaling pathway	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
cilium assembly	1
cellular component organization	1
binding	1
protein-containing complex	1
ciliary transition zone	1
cell projection membrane	1
bounding membrane of organelle	1
membrane	1
cell periphery	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

594 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM17	TMEM231	Q9H6L2	881
TMEM17	TMEM237	Q96Q45	867
TMEM17	B9D1	Q9UPM9	864
TMEM17	CC2D2A	Q9P2K1	839
TMEM17	B9D2	Q9BPU9	826
TMEM17	TMEM216	Q9P0N5	826
TMEM17	TCTN1	Q2MV58	823
TMEM17	NPHP1	O15259	816
TMEM17	TMEM67	Q5HYA8	792
TMEM17	TCTN3	Q6NUS6	778
TMEM17	NPHP4	O75161	776
TMEM17	TCTN2	Q96GX1	768
TMEM17	TMEM107	Q6UX40	742
TMEM17	RPGRIP1L	Q68CZ1	727
TMEM17	TMEM218	A2RU14	717

IntAct

15 interactions, top by confidence:

A	B	Type	Score
YIF1A	TMEM17	psi-mi:“MI:0915”(physical association)	0.660
SDCBP	TMEM17	psi-mi:“MI:0915”(physical association)	0.560
TMEM17	SS18L2	psi-mi:“MI:0915”(physical association)	0.560
EHHADH	TMEM17	psi-mi:“MI:0915”(physical association)	0.560
TMEM17	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
SDCBP	TMEM17	psi-mi:“MI:0915”(physical association)	0.000
SS18L2	TMEM17	psi-mi:“MI:0915”(physical association)	0.000
YIF1A	TMEM17	psi-mi:“MI:0915”(physical association)	0.000
EHHADH	TMEM17	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (404): ABCC1 (Proximity Label-MS), ABCC5 (Proximity Label-MS), ACBD3 (Proximity Label-MS), ACSL3 (Proximity Label-MS), ADD3 (Proximity Label-MS), ADIPOR1 (Proximity Label-MS), AGPAT6 (Proximity Label-MS), AGPAT9 (Proximity Label-MS), AHCYL1 (Proximity Label-MS), ALDH3A2 (Proximity Label-MS), ALG9 (Proximity Label-MS), ANK3 (Proximity Label-MS), ANKLE2 (Proximity Label-MS), ANO6 (Proximity Label-MS), AP1B1 (Proximity Label-MS)

ESM2 similar proteins: A2AKM2, A4FUY9, A5D6V4, A7YY55, A8WGS4, Q01685, Q0P5C7, Q15629, Q3T124, Q4R8A8, Q4V8U5, Q5BJF2, Q5GH60, Q5GH61, Q5GH68, Q5HZE5, Q5ND56, Q5NVQ2, Q5R7Z3, Q5U2T1, Q5VWC8, Q5XI41, Q5ZM57, Q60457, Q6DED0, Q6GLX2, Q6GNB5, Q6P4N1, Q6PP77, Q6YWS8, Q7SY06, Q84QC0, Q86X19, Q8CGF5, Q8K0U3, Q8K2C9, Q8N609, Q8QZR0, Q8R000, Q8VZB2

Diamond homologs: A4FUY9, A5D6V4, E1BY51, F6RWY9, Q502E0, Q5HZD4, Q5HZE5, Q86X19, Q8K0U3, Q96HE8, A1A4P6, E7EYQ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

666 predictions. Top by Δscore:

Variant	Effect	Δscore
2:62502431:GCTTA:G	donor_loss	1.0000
2:62502432:CTTA:C	donor_loss	1.0000
2:62502433:TTACC:T	donor_loss	1.0000
2:62502434:TACCT:T	donor_loss	1.0000
2:62502435:A:C	donor_loss	1.0000
2:62502436:C:CT	donor_loss	1.0000
2:62502546:GAATA:G	acceptor_gain	1.0000
2:62502547:AATA:A	acceptor_gain	1.0000
2:62502547:AATAC:A	acceptor_loss	1.0000
2:62502548:ATA:A	acceptor_gain	1.0000
2:62502549:TA:T	acceptor_gain	1.0000
2:62502549:TAC:T	acceptor_loss	1.0000
2:62502550:AC:A	acceptor_loss	1.0000
2:62502551:C:CC	acceptor_gain	1.0000
2:62502551:C:CG	acceptor_loss	1.0000
2:62502552:T:C	acceptor_loss	1.0000
2:62502795:C:CC	acceptor_gain	1.0000
2:62502430:AGCTT:A	donor_loss	0.9900
2:62502436:CCTT:C	donor_gain	0.9900
2:62502790:ATTTT:A	acceptor_gain	0.9900
2:62502791:TTTT:T	acceptor_gain	0.9900
2:62502791:TTTTC:T	acceptor_loss	0.9900
2:62502792:TTT:T	acceptor_gain	0.9900
2:62502792:TTTC:T	acceptor_loss	0.9900
2:62502793:TT:T	acceptor_gain	0.9900
2:62502793:TTCT:T	acceptor_loss	0.9900
2:62502794:TCTA:T	acceptor_loss	0.9900
2:62502795:CT:C	acceptor_loss	0.9900
2:62502796:T:A	acceptor_loss	0.9900
2:62506023:CACT:C	donor_loss	0.9900

AlphaMissense

1302 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:62501455:G:C	S117R	0.999
2:62501455:G:T	S117R	0.999
2:62501457:T:G	S117R	0.999
2:62502453:C:A	G101V	0.997
2:62502453:C:T	G101D	0.997
2:62502454:C:G	G101R	0.997
2:62501467:A:C	F113L	0.996
2:62501467:A:T	F113L	0.996
2:62501469:A:G	F113L	0.996
2:62502449:G:C	N102K	0.996
2:62502449:G:T	N102K	0.996
2:62502462:C:T	G98D	0.996
2:62502463:C:G	G98R	0.996
2:62502726:A:G	W57R	0.996
2:62502726:A:T	W57R	0.996
2:62502454:C:A	G101C	0.995
2:62502474:C:G	R94P	0.995
2:62502723:A:G	W58R	0.994
2:62502723:A:T	W58R	0.994
2:62501471:C:T	G112D	0.993
2:62502447:A:G	L103P	0.993
2:62502483:T:A	E91V	0.993
2:62501466:A:G	W114R	0.992
2:62501466:A:T	W114R	0.992
2:62501474:G:T	A111D	0.992
2:62502755:A:G	L47P	0.991
2:62501287:G:C	F173L	0.989
2:62501287:G:T	F173L	0.989
2:62501289:A:G	F173L	0.989
2:62501472:C:G	G112R	0.989

dbSNP variants (sampled 300 via entrez): RS1000012581 (2:62456172 C>A), RS1000068208 (2:62456484 C>T), RS1000074038 (2:62462573 A>T), RS1000126600 (2:62504330 T>G), RS1000130271 (2:62504788 AT>A,ATT), RS1000197536 (2:62502942 G>A), RS1000244905 (2:62456631 C>T), RS1000249011 (2:62479608 G>A), RS1000323011 (2:62479904 A>C,G), RS1000412041 (2:62496573 A>C), RS1000459414 (2:62491820 A>C,G), RS1000489013 (2:62492082 G>T), RS1000526904 (2:62458033 C>A), RS1000596794 (2:62456165 G>A), RS1000702008 (2:62492980 C>T)

Disease associations

OMIM: gene MIM:614950 | disease phenotypes: MIM:249000, MIM:311200, MIM:213300

GenCC curated gene-disease

Mondo (3): Meckel syndrome (MONDO:0018921), orofaciodigital syndrome I (MONDO:0010702), Joubert syndrome (MONDO:0018772)

Orphanet (3): Meckel syndrome (Orphanet:564), Orofaciodigital syndrome type 1 (Orphanet:2750), Isolated Joubert syndrome (Orphanet:475)

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST001438_3	Crohn’s disease	7.000000e-09
GCST005992_28	Mean corpuscular hemoglobin concentration	3.000000e-08
GCST006011_94	Mean corpuscular volume	5.000000e-08
GCST007326_53	Number of sexual partners	3.000000e-09
GCST008860_32	Prostate cancer	4.000000e-16
GCST010866_34	Coronary artery disease	4.000000e-09
GCST011346_15	Total cholesterol levels	3.000000e-11
GCST011347_16	Low density lipoprotein cholesterol levels	6.000000e-11
GCST011769_2	Schizophrenia	1.000000e-08
GCST90002401_373	Platelet distribution width	2.000000e-10

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0004574	total cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0007984	platelet component distribution width

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537134	Orofaciodigital syndrome type1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, affects cotreatment	3
Nickel	decreases expression	2
Cyclosporine	affects expression, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment, increases expression	2
methylmercuric chloride	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Temozolomide	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Gasoline	increases expression, affects cotreatment, increases abundance	1
Polycyclic Aromatic Hydrocarbons	increases expression, affects cotreatment, increases abundance	1
Smoke	decreases expression	1
Asbestos, Crocidolite	decreases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01401998	Not specified	RECRUITING	ARPKD Database Study
NCT00873678	Not specified	COMPLETED	Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
NCT04874909	Not specified	COMPLETED	Classification, Functional Stratification and Biomarkers in Ciliopathy (CILLICORIRCM)