TMEM217

Summary

TMEM217 (transmembrane protein 217, HGNC:21238) is a protein-coding gene on chromosome 6p21.2, encoding Transmembrane protein 217 (Q8N7C4).

Predicted to be located in membrane.

Source: NCBI Gene 221468 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 39 total
• MANE Select transcript: NM_001286401

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21238
Approved symbol	TMEM217
Name	transmembrane protein 217
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ355M6.2
Ensembl gene	ENSG00000172738
Ensembl biotype	protein_coding
Entrez	221468

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 10 protein_coding, 2 nonsense_mediated_decay

ENST00000336655, ENST00000356757, ENST00000357219, ENST00000482580, ENST00000650809, ENST00000650973, ENST00000651039, ENST00000651722, ENST00000652218, ENST00000652386, ENST00000652495, ENST00000652639

RefSeq mRNA: 10 — MANE Select: NM_001286401 NM_001162900, NM_001286401, NM_001371555, NM_001395238, NM_001395240, NM_001395241, NM_001395242, NM_001395243, NM_001395244, NM_145316

CCDS: CCDS4831, CCDS69102, CCDS93908, CCDS93909, CCDS93910

Canonical transcript exons

ENST00000651039 — 3 exons

Exon	Start	End
ENSE00001192460	37218426	37219041
ENSE00001426610	37212181	37212996
ENSE00003846211	37257568	37258144

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 78.00.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0127 / max 79.9423, expressed in 979 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73424	3.7453	889
73421	0.1723	67
73422	0.0609	13
73423	0.0342	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.00	gold quality
testis	UBERON:0000473	73.32	gold quality
right adrenal gland cortex	UBERON:0035827	72.87	gold quality
left adrenal gland	UBERON:0001234	72.85	gold quality
left testis	UBERON:0004533	72.72	gold quality
right adrenal gland	UBERON:0001233	72.65	gold quality
islet of Langerhans	UBERON:0000006	72.55	gold quality
left adrenal gland cortex	UBERON:0035825	72.45	gold quality
right testis	UBERON:0004534	71.81	gold quality
lower esophagus mucosa	UBERON:0035834	71.80	gold quality
adrenal gland	UBERON:0002369	71.04	gold quality
bone marrow	UBERON:0002371	67.61	gold quality
stromal cell of endometrium	CL:0002255	64.64	gold quality
esophagus mucosa	UBERON:0002469	64.44	gold quality
minor salivary gland	UBERON:0001830	64.35	gold quality
saliva-secreting gland	UBERON:0001044	64.29	gold quality
bone marrow cell	CL:0002092	64.20	silver quality
adrenal tissue	UBERON:0018303	62.83	gold quality
gall bladder	UBERON:0002110	62.20	gold quality
pancreas	UBERON:0001264	60.79	gold quality
duodenum	UBERON:0002114	60.45	gold quality
granulocyte	CL:0000094	60.07	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	59.86	gold quality
vermiform appendix	UBERON:0001154	59.62	gold quality
tonsil	UBERON:0002372	58.02	gold quality
thoracic aorta	UBERON:0001515	57.45	gold quality
ascending aorta	UBERON:0001496	57.33	gold quality
smooth muscle tissue	UBERON:0001135	56.99	gold quality
lymph node	UBERON:0000029	56.95	gold quality
descending thoracic aorta	UBERON:0002345	56.88	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

58 targeting TMEM217, 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-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-1825	99.72	68.11	1089
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-3682-3P	99.58	67.63	865
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-6165	99.44	67.12	1389
HSA-MIR-6882-5P	99.35	71.13	1206
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-4711-3P	98.97	66.87	1020
HSA-MIR-421	98.90	67.04	1883

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem217	ENSMUSG00000079580
rattus_norvegicus	Tmem217	ENSRNOG00000046758

Paralogs (1): TMEM217B (ENSG00000286105)

Protein

Protein identifiers

Transmembrane protein 217 — Q8N7C4 (reviewed: Q8N7C4)

All UniProt accessions (8): A0A494BZZ0, A0A494C081, A0A494C0I7, A0A494C0N2, A0A494C0S4, A0A494C140, A0A494C1J7, Q8N7C4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N7C4-1	1	yes
Q8N7C4-2	2

RefSeq proteins (10): NP_001156372, NP_001273330, NP_001358484, NP_001382167, NP_001382169, NP_001382170, NP_001382171, NP_001382172, NP_001382173, NP_660359 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027862	DUF4534	Family

Pfam: PF15049

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N7C4-F1	72.26	0.30

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): 39, 156

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 72 (showing top): TGCACTT_MIR519C_MIR519B_MIR519A, LIEN_BREAST_CARCINOMA_METAPLASTIC, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, LU_EZH2_TARGETS_UP, GSE13522_WT_VS_IFNG_KO_SKING_T_CRUZI_Y_STRAIN_INF_UP, ASH1L_TARGET_GENES, ATF6_TARGET_GENES, CIITA_TARGET_GENES, FOXG1_TARGET_GENES, HHEX_TARGET_GENES, HOXB4_TARGET_GENES, NFE2L1_TARGET_GENES, TEAD2_TARGET_GENES, MIR6739_5P, MIR6733_5P

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

292 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM217	C2orf66	Q6UXQ4	479
TMEM217	C1QTNF2	Q9BXJ5	475
TMEM217	C2CD2L	O14523	469
TMEM217	SLC25A30	Q5SVS4	406
TMEM217	CDK2AP2	O75956	405
TMEM217	ZFP14	Q9HCL3	395
TMEM217	MRPL14	Q6P1L8	391
TMEM217	CCDC190	Q86UF4	391
TMEM217	CERCAM	Q5T4B2	387
TMEM217	CCDC86	Q9H6F5	385
TMEM217	TMEM35A	Q53FP2	383
TMEM217	SPATA17	Q96L03	383
TMEM217	TMEM174	Q8WUU8	379
TMEM217	SH3BGR	P55822	378
TMEM217	RNF150	Q9ULK6	374

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SLC9C1	PSMD12	psi-mi:“MI:0914”(association)	0.350

BioGRID (1): TMEM217 (Affinity Capture-MS)

ESM2 similar proteins: A0A494BZU4, A0A7H0DND7, A0JNG0, A2T345, A4IIV4, C4QM85, E7F594, G5EDX4, O02051, O45306, P0DP42, P0DST5, P0DST6, P21061, P24763, P34362, P34363, P53053, Q09282, Q0II41, Q10907, Q11071, Q11085, Q13571, Q20249, Q297K8, Q2KHT4, Q2KJA5, Q32KQ5, Q5DC12, Q5GH77, Q5PQM0, Q5RD28, Q5REZ0, Q5TAH2, Q61168, Q6AXT9, Q6GV27, Q6GV28, Q7K1V5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	28
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

611 predictions. Top by Δscore:

Variant	Effect	Δscore
6:37257947:G:GT	donor_gain	1.0000
6:37257971:G:T	donor_gain	1.0000
6:37257971:GAGGT:G	donor_loss	1.0000
6:37257972:AGG:A	donor_loss	1.0000
6:37257973:GGTG:G	donor_loss	1.0000
6:37257974:G:C	donor_loss	1.0000
6:37257975:T:G	donor_loss	1.0000
6:37212993:CCTC:C	acceptor_gain	0.9900
6:37212994:CTC:C	acceptor_gain	0.9900
6:37212994:CTCC:C	acceptor_gain	0.9900
6:37212995:TCCT:T	acceptor_gain	0.9900
6:37212995:TCCTG:T	acceptor_loss	0.9900
6:37212997:CTGCA:C	acceptor_loss	0.9900
6:37212998:T:A	acceptor_loss	0.9900
6:37218875:TGC:T	donor_gain	0.9900
6:37257969:GGGAG:G	donor_gain	0.9900
6:37257970:GGAGG:G	donor_gain	0.9900
6:37257971:G:GT	donor_gain	0.9900
6:37257984:G:GT	donor_gain	0.9900
6:37212995:TC:T	acceptor_gain	0.9800
6:37212996:CC:C	acceptor_gain	0.9800
6:37212997:C:CC	acceptor_gain	0.9800
6:37257958:C:G	donor_gain	0.9800
6:37257970:GGAG:G	donor_gain	0.9800
6:37257971:GAG:G	donor_gain	0.9800
6:37212920:T:TC	acceptor_gain	0.9700
6:37218874:TTG:T	donor_gain	0.9700
6:37257974:G:GG	donor_gain	0.9700
6:37212992:ACCTC:A	acceptor_gain	0.9600
6:37212993:CCTCC:C	acceptor_gain	0.9600

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000051521 (6:37222714 A>G), RS1000157819 (6:37212767 A>G), RS1000224420 (6:37244932 C>G), RS1000246978 (6:37251021 C>T), RS1000281311 (6:37229552 C>G,T), RS1000298086 (6:37250656 A>G), RS1000312602 (6:37236305 C>T), RS1000324014 (6:37236004 T>C), RS1000410070 (6:37238121 T>C), RS1000491053 (6:37212571 G>A), RS1000517058 (6:37241929 G>A), RS1000564959 (6:37246333 CAT>C), RS1000588771 (6:37243774 G>A), RS1000595801 (6:37253363 T>C), RS1000644040 (6:37234930 A>G)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001715_14	Bipolar disorder with mood-incongruent psychosis	7.000000e-06
GCST002481_11	Acne (severe)	2.000000e-06

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	increases expression, increases methylation	3
Aflatoxin B1	increases expression	3
sodium arsenite	decreases expression, increases expression	2
Cadmium Chloride	decreases expression	2
Particulate Matter	increases abundance, increases expression	2
aristolochic acid I	increases expression	1
bisphenol A	decreases expression, affects cotreatment	1
testosterone undecanoate	affects cotreatment, increases expression	1
kojic acid	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
tobacco tar	decreases reaction, increases expression	1
diallyl disulfide	decreases reaction, increases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects response to substance	1
3,4,5,4’-tetramethoxystilbene	affects expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1
N-Nitrosopyrrolidine	increases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
Valproic Acid	decreases expression	1

Clinical trials (associated diseases)

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