TMEM207

Summary

TMEM207 (transmembrane protein 207, HGNC:33705) is a protein-coding gene on chromosome 3q28, encoding Transmembrane protein 207 (Q6UWW9).

Predicted to be located in membrane.

Source: NCBI Gene 131920 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_207316

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33705
Approved symbol	TMEM207
Name	transmembrane protein 207
Location	3q28
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000198398
Ensembl biotype	protein_coding
OMIM	614786
Entrez	131920

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000354905

RefSeq mRNA: 1 — MANE Select: NM_207316 NM_207316

CCDS: CCDS3297

Canonical transcript exons

ENST00000354905 — 5 exons

Exon	Start	End
ENSE00001413854	190440244	190440389
ENSE00001415505	190441438	190441482
ENSE00001419081	190447790	190447827
ENSE00001420144	190449735	190449901
ENSE00001433816	190428655	190429731

Expression profiles

Bgee: expression breadth broad, 14 present calls, max score 91.50.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0033 / max 3.2538, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46089	0.0033	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	91.50	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.59	gold quality
adult mammalian kidney	UBERON:0000082	73.73	gold quality
kidney	UBERON:0002113	69.96	gold quality
tibialis anterior	UBERON:0001385	67.68	silver quality
renal medulla	UBERON:0000362	61.84	gold quality
pancreatic ductal cell	CL:0002079	61.72	silver quality
ileal mucosa	UBERON:0000331	58.16	silver quality
epithelial cell of pancreas	CL:0000083	54.86	gold quality
deltoid	UBERON:0001476	54.49	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
cortex of kidney	UBERON:0001225	51.89	gold quality
skin of hip	UBERON:0001554	51.44	silver quality
metanephros	UBERON:0000081	51.10	gold quality
myocardium	UBERON:0002349	50.25	gold quality
upper leg skin	UBERON:0004262	47.70	silver quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
layer of synovial tissue	UBERON:0007616	46.87	gold quality
vastus lateralis	UBERON:0001379	45.47	gold quality
metanephros cortex	UBERON:0010533	43.47	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
buccal mucosa cell	CL:0002336	42.92	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
skeletal muscle tissue	UBERON:0001134	41.98	gold quality
muscle tissue	UBERON:0002385	41.93	gold quality
middle temporal gyrus	UBERON:0002771	41.61	gold quality
thymus	UBERON:0002370	41.58	gold quality
inferior vagus X ganglion	UBERON:0005363	41.36	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-119	yes	985.36
E-GEOD-131882	yes	980.38
E-ANND-3	no	2.45

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting TMEM207, 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-3134	100.00	66.43	777
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-5004-3P	99.54	68.27	1371
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-6731-3P	98.61	67.86	749
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-5585-3P	98.25	67.41	941
HSA-MIR-6881-3P	98.04	68.24	1777
HSA-MIR-4638-3P	97.90	65.75	905
HSA-MIR-6514-3P	97.52	66.50	808
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-509-3-5P	97.21	67.74	1517
HSA-MIR-509-5P	97.21	67.90	1512
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-12115	94.19	66.37	738

Literature-anchored findings (GeneRIF, showing 2)

• overexpression of TMEM207 may facilitate invasive activity and metastasis of gastric signet-ring cell carcinoma, which possibly occur through binding to WWOX and attenuation of its function. (PMID:22226915)
• Enforced expression of TMEM207 abrogated the binding of WWOX to HIF-1alpha, increased HIF-1alpha and GLUT-1 expression, even under normoxic conditions, and promoted tumour growth. (PMID:29164763)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem207	ENSMUSG00000091972
rattus_norvegicus	Tmem207	ENSRNOG00000064931

Protein

Protein identifiers

Transmembrane protein 207 — Q6UWW9 (reviewed: Q6UWW9)

All UniProt accessions (1): Q6UWW9

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with WWOX.

Subcellular location. Early endosome membrane.

Tissue specificity. Expressed in some signet-ring cell carcinoma, especially those showing high invasion and metastatic activity (at protein level).

RefSeq proteins (1): NP_997199* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039490	TMEM207	Family

UniProt features (7 total): topological domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence variant 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWW9-F1	63.81	0.09

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
136–137	loss of wwox-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 29 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, GOCC_EARLY_ENDOSOME_MEMBRANE, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOCC_ENDOSOME_MEMBRANE, GSE10094_LCMV_VS_LISTERIA_IND_EFF_CD4_TCELL_DN, MIR3065_5P, MIR374A_5P, MIR7159_5P, MIR374B_5P, MIR3059_5P, MIR877_3P, MIR5009_3P, DESCARTES_MAIN_FETAL_INTESTINAL_EPITHELIAL_CELLS, DESCARTES_FETAL_INTESTINE_INTESTINAL_EPITHELIAL_CELLS, ZNF490_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (2): early endosome membrane (GO:0031901), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
early endosome	1
endosome membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

216 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM207	WWOX	Q9NZC7	759
TMEM207	TMEM25	Q86YD3	650
TMEM207	VOPP1	Q96AW1	617
TMEM207	TMEM213	A2RRL7	596
TMEM207	TMEM116	Q8NCL8	575
TMEM207	RTP3	Q9BQQ7	479
TMEM207	TMEM184C	Q9NVA4	465
TMEM207	TMEM196	Q5HYL7	454
TMEM207	TMEM174	Q8WUU8	448
TMEM207	WBP1	Q96G27	444
TMEM207	TMEM88	Q6PEY1	438
TMEM207	NDC1	Q9BTX1	433
TMEM207	TMEM45A	Q9NWC5	430
TMEM207	TMEM61	Q8N0U2	418
TMEM207	ITLN1	Q8WWA0	417

IntAct

30 interactions, top by confidence:

A	B	Type	Score
SCAND1	TMEM207	psi-mi:“MI:0915”(physical association)	0.560
NSG1	TMEM207	psi-mi:“MI:0915”(physical association)	0.560
TMEM207	NRAC	psi-mi:“MI:0915”(physical association)	0.560
TMEM218	TMEM207	psi-mi:“MI:0915”(physical association)	0.560
TMEM207	JAGN1	psi-mi:“MI:0915”(physical association)	0.560
TMEM207	MGST2	psi-mi:“MI:0915”(physical association)	0.560
TMEM207	TREX1	psi-mi:“MI:0915”(physical association)	0.560
TMEM207	TMEM140	psi-mi:“MI:0915”(physical association)	0.560
MAL	TMEM207	psi-mi:“MI:0915”(physical association)	0.560
TMEM207	ITLN1	psi-mi:“MI:0915”(physical association)	0.520
SCAND1	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
NSG1	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
NRAC	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
TMEM218	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
JAGN1	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
MGST2	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
TREX1	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
TMEM140	TMEM207	psi-mi:“MI:0915”(physical association)	0.000
MAL	TMEM207	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (11): TMEM207 (Two-hybrid), TMEM207 (Two-hybrid), TMEM207 (Two-hybrid), TMEM207 (Two-hybrid), TMEM207 (Two-hybrid), TMEM207 (Two-hybrid), TMEM207 (Two-hybrid), TMEM207 (Two-hybrid), TREX1 (Two-hybrid), TMEM207 (Affinity Capture-RNA), TMEM207 (Affinity Capture-Luminescence)

ESM2 similar proteins: A2AR95, A4IHY6, B7ZWI3, D3ZF92, O15165, O43278, O75509, O88204, P98153, P98154, Q0VBF2, Q1L8G6, Q29RU0, Q4KMG9, Q566M8, Q5DTZ6, Q5HZW5, Q5R662, Q5R8E0, Q5RD34, Q5RF74, Q5VUB5, Q61003, Q68FU0, Q6AXS2, Q6NRX0, Q6UWW9, Q6ZPS6, Q6ZUJ8, Q7TQH7, Q86YD5, Q8BGN6, Q8BLD6, Q8BUJ9, Q8R182, Q8TEB7, Q8WUU8, Q91ZV2, Q91ZV3, Q96PD2

Diamond homologs: P86045, Q6UWW9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	20
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

787 predictions. Top by Δscore:

Variant	Effect	Δscore
3:190440408:G:T	acceptor_gain	0.9900
3:190447837:A:C	acceptor_gain	0.9800
3:190449731:TTA:T	donor_loss	0.9800
3:190449732:TACC:T	donor_loss	0.9800
3:190449734:C:CA	donor_loss	0.9800
3:190435562:T:TA	donor_gain	0.9700
3:190444318:G:C	donor_gain	0.9700
3:190440407:C:CT	acceptor_gain	0.9600
3:190447828:C:CC	acceptor_gain	0.9500
3:190442536:CCAA:C	donor_gain	0.9400
3:190442539:A:AC	donor_gain	0.9400
3:190447841:T:C	acceptor_gain	0.9400
3:190447788:A:AC	donor_gain	0.9300
3:190447789:C:CC	donor_gain	0.9300
3:190447824:CCAA:C	acceptor_gain	0.9300
3:190447825:CAAC:C	acceptor_gain	0.9300
3:190448307:TTA:T	donor_gain	0.9300
3:190440397:C:CT	acceptor_gain	0.9200
3:190444380:A:AC	donor_gain	0.9200
3:190447841:T:TC	acceptor_gain	0.9200
3:190429732:C:CC	acceptor_gain	0.9100
3:190440397:C:T	acceptor_gain	0.9100
3:190429729:TCCC:T	acceptor_loss	0.9000
3:190429732:C:CG	acceptor_loss	0.9000
3:190429733:T:G	acceptor_loss	0.9000
3:190429734:G:C	acceptor_loss	0.8900
3:190447783:TACT:T	donor_loss	0.8900
3:190447785:C:CT	donor_loss	0.8900
3:190447786:T:TT	donor_loss	0.8900
3:190447787:TA:T	donor_loss	0.8900

AlphaMissense

927 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:190440272:A:C	F92L	0.956
3:190440272:A:T	F92L	0.956
3:190440274:A:G	F92L	0.956
3:190440273:A:G	F92S	0.864
3:190440276:A:T	V91D	0.849
3:190440352:A:G	C66R	0.820
3:190440273:A:C	F92C	0.818
3:190440349:C:G	G67R	0.814
3:190440349:C:T	G67R	0.814
3:190440270:G:T	A93D	0.802
3:190441439:A:G	W53R	0.790
3:190441439:A:T	W53R	0.790
3:190440334:A:G	C72R	0.778
3:190440348:C:T	G67E	0.770
3:190449752:A:G	C20R	0.737
3:190440276:A:C	V91G	0.717
3:190449761:C:G	G17R	0.716
3:190449761:C:T	G17R	0.716
3:190440279:G:T	A90E	0.694
3:190429617:T:A	E140V	0.663
3:190429621:A:G	Y139H	0.654
3:190440276:A:G	V91A	0.651
3:190449760:C:T	G17E	0.651
3:190440267:A:T	V94D	0.650
3:190440271:C:G	A93P	0.645
3:190440357:A:C	L64R	0.617
3:190440357:A:T	L64H	0.616
3:190440342:A:T	V69E	0.607
3:190440261:T:A	D96V	0.605
3:190440274:A:T	F92I	0.602

dbSNP variants (sampled 300 via entrez): RS1000106771 (3:190445872 T>C), RS1000118176 (3:190446161 CTT>C), RS1000240184 (3:190440164 CT>C), RS1000296959 (3:190435842 T>C), RS1000392877 (3:190434379 T>C), RS1000450456 (3:190430063 A>G), RS1000574816 (3:190428540 A>G), RS1000583842 (3:190436162 T>C), RS1000606528 (3:190428331 A>G), RS1000992885 (3:190445769 A>T), RS1001034985 (3:190450107 C>G), RS1001096812 (3:190440336 A>G), RS1001121891 (3:190444716 C>A), RS1001279288 (3:190445968 G>A,T), RS1001284731 (3:190432907 T>A)

Disease associations

OMIM: gene MIM:614786 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
CGP 52608	affects binding, increases reaction	1
Atrazine	increases expression	1

Clinical trials (associated diseases)

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