TMEM134

Summary

TMEM134 (transmembrane protein 134, HGNC:26142) is a protein-coding gene on chromosome 11q13.2, encoding Transmembrane protein 134 (Q9H6X4).

Located in cytosol and perinuclear region of cytoplasm.

Source: NCBI Gene 80194 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_025124

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26142
Approved symbol	TMEM134
Name	transmembrane protein 134
Location	11q13.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ21749
Ensembl gene	ENSG00000172663
Ensembl biotype	protein_coding
Entrez	80194

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 10 protein_coding, 9 retained_intron, 4 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000308022, ENST00000393877, ENST00000452789, ENST00000501408, ENST00000535175, ENST00000535585, ENST00000535813, ENST00000536020, ENST00000536773, ENST00000537601, ENST00000538561, ENST00000540133, ENST00000541059, ENST00000541598, ENST00000543661, ENST00000544903, ENST00000545682, ENST00000909810, ENST00000909811, ENST00000909812, ENST00000909813, ENST00000909814, ENST00000932053, ENST00000952655

RefSeq mRNA: 3 — MANE Select: NM_025124 NM_001078650, NM_001078651, NM_025124

CCDS: CCDS41678, CCDS8167

Canonical transcript exons

ENST00000308022 — 7 exons

Exon	Start	End
ENSE00002268731	67469019	67469251
ENSE00003287343	67461710	67464696
ENSE00003531327	67467312	67467388
ENSE00003626705	67464803	67464856
ENSE00003633270	67465056	67465100
ENSE00003660799	67468028	67468092
ENSE00003672741	67467501	67467590

Expression profiles

Bgee: expression breadth ubiquitous, 287 present calls, max score 98.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5820 / max 148.7481, expressed in 1810 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
120936	19.5347	1808
120935	0.7310	354
120934	0.3162	136

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.79	gold quality
skin of abdomen	UBERON:0001416	98.41	gold quality
skin of leg	UBERON:0001511	98.37	gold quality
esophagus mucosa	UBERON:0002469	97.74	gold quality
body of pancreas	UBERON:0001150	97.39	gold quality
nipple	UBERON:0002030	97.39	gold quality
zone of skin	UBERON:0000014	97.06	gold quality
metanephros cortex	UBERON:0010533	96.65	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.61	gold quality
apex of heart	UBERON:0002098	96.48	gold quality
pharyngeal mucosa	UBERON:0000355	96.47	gold quality
right uterine tube	UBERON:0001302	96.31	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.28	gold quality
body of stomach	UBERON:0001161	96.16	gold quality
right lobe of liver	UBERON:0001114	96.15	gold quality
granulocyte	CL:0000094	96.04	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	95.90	gold quality
gastrocnemius	UBERON:0001388	95.84	gold quality
right adrenal gland cortex	UBERON:0035827	95.83	gold quality
right adrenal gland	UBERON:0001233	95.81	gold quality
minor salivary gland	UBERON:0001830	95.79	gold quality
right testis	UBERON:0004534	95.69	gold quality
esophagus	UBERON:0001043	95.63	gold quality
mucosa of transverse colon	UBERON:0004991	95.61	gold quality
left adrenal gland cortex	UBERON:0035825	95.51	gold quality
left testis	UBERON:0004533	95.48	gold quality
right lobe of thyroid gland	UBERON:0001119	95.47	gold quality
superior surface of tongue	UBERON:0007371	95.42	gold quality
left lobe of thyroid gland	UBERON:0001120	95.41	gold quality
mouth mucosa	UBERON:0003729	95.40	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.74
E-MTAB-7303	no	201.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting TMEM134, 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-3910	99.95	71.13	2227
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-130A-5P	99.33	70.26	2623
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-585-5P	97.54	69.02	955
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-6734-5P	95.70	65.56	950
HSA-MIR-6813-5P	94.68	64.20	588
HSA-MIR-4740-3P	91.27	64.89	113

Literature-anchored findings (GeneRIF, showing 1)

• screen identified a novel LMP1-binding protein, transmembrane protein 134; Tmem134 affected LMP1-induced NF-kappaB induction (PMID:22855487)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem134	ENSDARG00000024828
mus_musculus	Tmem134	ENSMUSG00000024845
rattus_norvegicus	Tmem134	ENSRNOG00000022153
drosophila_melanogaster	CG12025	FBGN0035285
caenorhabditis_elegans	F21F3.7	WBGENE00017676

Protein

Protein identifiers

Transmembrane protein 134 — Q9H6X4 (reviewed: Q9H6X4)

All UniProt accessions (5): Q9H6X4, A0A087WY65, A0A087X042, B4E0E3, G3V1M5

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. (Microbial infection) Interacts with Hepatitis E virus (HEV) ORF2.

Subcellular location. Membrane. Cytoplasm. Perinuclear region.

Similarity. Belongs to the TMEM134/TMEM230 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H6X4-1	1	yes
Q9H6X4-2	2
Q9H6X4-3	3

RefSeq proteins (3): NP_001072118, NP_001072119, NP_079400* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008590	TMEM_230/134	Family
IPR039714	TMEM134	Family

Pfam: PF05915

UniProt features (12 total): topological domain 3, splice variant 3, transmembrane region 2, region of interest 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H6X4-F1	58.36	0.01

Functional residue map

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

Post-translational modifications (1): 93

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 104 (showing top): BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, chr11q13, GTGCCTT_MIR506, CHARAFE_BREAST_CANCER_BASAL_VS_MESENCHYMAL_UP, TGANTCA_AP1_C, NIKOLSKY_BREAST_CANCER_11Q12_Q14_AMPLICON, TGCCTTA_MIR124A, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MZF1_01, GAZDA_DIAMOND_BLACKFAN_ANEMIA_ERYTHROID_DN, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_36HR, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, BARX1_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (4): cytosol (GO:0005829), membrane (GO:0016020), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
cytoplasm	2
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

468 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM134	FAM185A	Q8N0U4	499
TMEM134	GPR152	Q8TDT2	477
TMEM134	PPP1R26	Q5T8A7	474
TMEM134	TOR2A	Q5JU69	450
TMEM134	PTRH1	Q86Y79	443
TMEM134	VPS13C	Q709C8	427
TMEM134	RNF170	Q96K19	421
TMEM134	TMEM183A	Q8IXX5	405
TMEM134	TMEM54	Q969K7	401
TMEM134	MRGPRG	Q86SM5	400
TMEM134	SLC25A27	O95847	391
TMEM134	PITPNM1	O00562	389
TMEM134	CABP4	P57796	388
TMEM134	ZBTB45	Q96K62	383
TMEM134	TGOLN2	O43493	373

IntAct

9 interactions, top by confidence:

A	B	Type	Score
WLS	TMEM134	psi-mi:“MI:0915”(physical association)	0.490
WLS	TMEM134	psi-mi:“MI:0915”(physical association)	0.370
ERBB2	TMEM134	psi-mi:“MI:0915”(physical association)	0.370
ERBB3	TMEM134	psi-mi:“MI:0915”(physical association)	0.370
ERBB4	TMEM134	psi-mi:“MI:0915”(physical association)	0.370
TMEM134	ATP2B2	psi-mi:“MI:0914”(association)	0.350
TMEM134	POTEI	psi-mi:“MI:0914”(association)	0.350

BioGRID (17): TMEM134 (Two-hybrid), TMEM134 (Two-hybrid), TMEM134 (Two-hybrid), TMEM134 (PCA), UBE4A (Affinity Capture-MS), USP33 (Affinity Capture-MS), USP20 (Affinity Capture-MS), IP6K1 (Affinity Capture-MS), UBXN4 (Affinity Capture-MS), ATP2B2 (Affinity Capture-MS), POTEI (Affinity Capture-MS), GNB2 (Affinity Capture-MS), TMEM134 (Positive Genetic), TMEM134 (Affinity Capture-RNA), TMEM134 (Affinity Capture-RNA)

ESM2 similar proteins: A2QRA0, B3DJK0, D3ZXK7, F1Q930, F4IG73, G4N553, I1RE72, O76024, P0C2H4, P0CT44, P56696, P78746, Q00M95, Q0IJ20, Q16625, Q1LX49, Q3B8G4, Q3UDR8, Q5BK13, Q5E9N5, Q5F384, Q5K2C4, Q5RAS8, Q5SYH2, Q5VW38, Q5YLM1, Q5ZLD4, Q60649, Q69ZX6, Q6TUD4, Q6WQJ1, Q803Z2, Q80WQ6, Q8BLI4, Q8BUV8, Q8BWG9, Q8CF97, Q8GZ79, Q8N511, Q8R0J4

Diamond homologs: Q05B54, Q8R0J4, Q9H6X4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1154 predictions. Top by Δscore:

Variant	Effect	Δscore
11:67465118:C:CT	acceptor_gain	1.0000
11:67467495:GCTCA:G	donor_loss	1.0000
11:67467496:CTCAC:C	donor_loss	1.0000
11:67467497:TCACC:T	donor_loss	1.0000
11:67467498:CA:C	donor_loss	1.0000
11:67467499:A:AT	donor_loss	1.0000
11:67468040:C:CA	donor_gain	1.0000
11:67464697:C:CC	acceptor_gain	0.9900
11:67465101:C:CC	acceptor_gain	0.9900
11:67465118:C:T	acceptor_gain	0.9900
11:67467384:TCCAG:T	acceptor_gain	0.9900
11:67467385:CCAG:C	acceptor_gain	0.9900
11:67467385:CCAGC:C	acceptor_gain	0.9900
11:67467386:CAG:C	acceptor_gain	0.9900
11:67467386:CAGC:C	acceptor_gain	0.9900
11:67467389:C:CC	acceptor_gain	0.9900
11:67467397:C:CT	acceptor_gain	0.9900
11:67467607:CCAG:C	acceptor_gain	0.9900
11:67467608:CAG:C	acceptor_gain	0.9900
11:67467609:A:T	acceptor_gain	0.9900
11:67468041:C:A	donor_gain	0.9900
11:67469014:TTCA:T	donor_loss	0.9900
11:67469015:TCA:T	donor_loss	0.9900
11:67469016:CA:C	donor_loss	0.9900
11:67469018:C:T	donor_loss	0.9900
11:67464693:TAGA:T	acceptor_gain	0.9800
11:67464804:T:TA	donor_gain	0.9800
11:67465125:G:C	acceptor_gain	0.9800
11:67465125:G:GC	acceptor_gain	0.9800
11:67467310:AC:A	donor_gain	0.9800

AlphaMissense

1259 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:67464826:C:T	G161D	0.998
11:67464647:G:C	F185L	0.997
11:67464647:G:T	F185L	0.997
11:67464649:A:G	F185L	0.997
11:67464827:C:G	G161R	0.996
11:67469151:G:C	F14L	0.996
11:67469151:G:T	F14L	0.996
11:67469153:A:G	F14L	0.996
11:67464805:C:T	G168E	0.995
11:67464806:C:G	G168R	0.995
11:67464806:C:T	G168R	0.995
11:67467317:C:T	G134E	0.995
11:67467318:C:G	G134R	0.995
11:67467318:C:T	G134R	0.995
11:67464691:G:C	H171D	0.994
11:67464694:A:C	Y170D	0.994
11:67464808:G:T	P167H	0.994
11:67469152:A:C	F14C	0.994
11:67464648:A:G	F185S	0.992
11:67464694:A:G	Y170H	0.992
11:67465085:C:T	G141D	0.992
11:67469152:A:G	F14S	0.991
11:67469169:G:C	F8L	0.991
11:67469169:G:T	F8L	0.991
11:67469171:A:G	F8L	0.991
11:67464623:G:C	F193L	0.990
11:67464623:G:T	F193L	0.990
11:67464625:A:G	F193L	0.990
11:67464669:G:T	A178E	0.990
11:67469164:A:T	I10N	0.990

dbSNP variants (sampled 300 via entrez): RS1000164077 (11:67467184 T>A), RS1000279796 (11:67466794 T>A,C), RS1000958715 (11:67464245 C>A), RS1001219554 (11:67469398 C>G,T), RS1001404261 (11:67471211 C>A,G,T), RS1001467959 (11:67463629 C>A,T), RS1001590368 (11:67467615 G>A), RS1002296885 (11:67466028 T>C), RS1002885028 (11:67464460 AG>A), RS1003245683 (11:67463153 G>A), RS1003279850 (11:67462877 G>A,C), RS1003419231 (11:67468821 C>A), RS1003472711 (11:67465411 G>T), RS1003567452 (11:67470748 A>G), RS1003636141 (11:67470447 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

1 associations (top):

Study	Trait	p-value
GCST010002_241	Refractive error	3.000000e-13

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
Valproic Acid	affects expression, decreases expression	2
FR900359	increases phosphorylation	1
pirinixic acid	affects binding, decreases expression, increases activity	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Diethylstilbestrol	increases expression	1
Dimethyl Sulfoxide	affects expression	1
Doxorubicin	affects response to substance	1
Estradiol	decreases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Hydrogen Peroxide	affects expression	1
Lead	affects expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Vinblastine	affects response to substance	1
Cyclosporine	decreases expression	1
Paclitaxel	affects response to substance	1
Okadaic Acid	decreases expression	1
1-Butanol	affects cotreatment, increases abundance, increases expression	1
Acrylamide	decreases expression	1
Particulate Matter	affects cotreatment, increases abundance, increases expression	1

Clinical trials (associated diseases)

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