TMEM128

Summary

TMEM128 (transmembrane protein 128, HGNC:28201) is a protein-coding gene on chromosome 4p16.3, encoding Transmembrane protein 128 (Q5BJH2).

Predicted to be located in membrane.

Source: NCBI Gene 85013 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 18 total
• MANE Select transcript: NM_001297551

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28201
Approved symbol	TMEM128
Name	transmembrane protein 128
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC13159
Ensembl gene	ENSG00000132406
Ensembl biotype	protein_coding
Entrez	85013

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 14 protein_coding

ENST00000254742, ENST00000382753, ENST00000898372, ENST00000898373, ENST00000898374, ENST00000898375, ENST00000898376, ENST00000898377, ENST00000898378, ENST00000898379, ENST00000898380, ENST00000898381, ENST00000961755, ENST00000961756

RefSeq mRNA: 3 — MANE Select: NM_001297551 NM_001297551, NM_001297552, NM_032927

CCDS: CCDS3373, CCDS75099

Canonical transcript exons

ENST00000382753 — 5 exons

Exon	Start	End
ENSE00000903935	4240321	4240479
ENSE00000969426	4237827	4237935
ENSE00000969427	4235542	4236256
ENSE00001019722	4246202	4246343
ENSE00001493245	4248106	4248223

Expression profiles

Bgee: expression breadth ubiquitous, 257 present calls, max score 96.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1370 / max 123.6232, expressed in 1809 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
51179	18.1370	1809

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	96.88	gold quality
secondary oocyte	CL:0000655	95.18	gold quality
upper arm skin	UBERON:0004263	94.80	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.93	gold quality
palpebral conjunctiva	UBERON:0001812	93.90	gold quality
spinal cord	UBERON:0002240	93.64	gold quality
seminal vesicle	UBERON:0000998	93.62	gold quality
adult organism	UBERON:0007023	92.16	gold quality
epithelial cell of pancreas	CL:0000083	92.15	gold quality
hypothalamus	UBERON:0001898	91.37	gold quality
synovial joint	UBERON:0002217	90.77	gold quality
corpus epididymis	UBERON:0004359	90.64	gold quality
substantia nigra	UBERON:0002038	90.60	gold quality
caput epididymis	UBERON:0004358	90.59	gold quality
left ovary	UBERON:0002119	90.42	gold quality
metanephros	UBERON:0000081	90.37	gold quality
ventricular zone	UBERON:0003053	90.35	gold quality
nasal cavity mucosa	UBERON:0001826	90.34	gold quality
subthalamic nucleus	UBERON:0001906	90.20	gold quality
right adrenal gland	UBERON:0001233	90.17	gold quality
midbrain	UBERON:0001891	90.09	gold quality
rectum	UBERON:0001052	90.00	gold quality
right adrenal gland cortex	UBERON:0035827	89.97	gold quality
islet of Langerhans	UBERON:0000006	89.95	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.90	gold quality
left adrenal gland	UBERON:0001234	89.89	gold quality
bronchial epithelial cell	CL:0002328	89.73	gold quality
ovary	UBERON:0000992	89.65	gold quality
right ovary	UBERON:0002118	89.63	gold quality
left lobe of thyroid gland	UBERON:0001120	89.58	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	9.42
E-GEOD-70580	no	435.67
E-MTAB-6058	no	348.88
E-MTAB-6524	no	119.21

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting TMEM128, 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-3163	100.00	77.23	8605
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	TMEM128	ENSDARG00000110269
mus_musculus	Tmem128	ENSMUSG00000067365
rattus_norvegicus	Tmem128	ENSRNOG00000005346

Protein

Protein identifiers

Transmembrane protein 128 — Q5BJH2 (reviewed: Q5BJH2)

All UniProt accessions (1): Q5BJH2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5BJH2-1	1	yes
Q5BJH2-2	2

RefSeq proteins (3): NP_001284480, NP_001284481, NP_116316 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR033579	TMEM128	Family

Pfam: PF20479

UniProt features (8 total): transmembrane region 4, chain 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5BJH2-F1	69.25	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 83 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, chr4p16, MGGAAGTG_GABP_B, JOHNSTONE_PARVB_TARGETS_2_DN, KRIEG_KDM3A_TARGETS_NOT_HYPOXIA, LIM_MAMMARY_STEM_CELL_DN, GSE14699_NAIVE_VS_ACT_CD8_TCELL_UP, ALKBH3_TARGET_GENES, DIDO1_TARGET_GENES, ELF2_TARGET_GENES, GTF2E2_TARGET_GENES, HOXC6_TARGET_GENES, NFE2L1_TARGET_GENES, RORA_TARGET_GENES, ZNF175_TARGET_GENES

GO Biological Process (0):

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

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

298 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM128	OTOP1	Q7RTM1	647
TMEM128	ZBTB49	Q6ZSB9	573
TMEM128	FAM47C	Q5HY64	506
TMEM128	TMEM179	Q6ZVK1	479
TMEM128	OR2A7	Q96R45	479
TMEM128	DRD5	P21918	475
TMEM128	OTOP2	Q7RTS6	453
TMEM128	WDR1	O75083	440
TMEM128	HID1	Q8IV36	434
TMEM128	NTNG2	Q96CW9	423
TMEM128	TMEM184A	Q6ZMB5	419
TMEM128	SPATA3	Q8NHX4	419
TMEM128	HSPBP1	Q9NZL4	411
TMEM128	LYAR	Q9NX58	403
TMEM128	ZNF124	Q15973	400

IntAct

11 interactions, top by confidence:

A	B	Type	Score
BCL2L13	TMEM128	psi-mi:“MI:0915”(physical association)	0.560
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
CD226	MEN1	psi-mi:“MI:0914”(association)	0.530
TMEM128	PLSCR1	psi-mi:“MI:0914”(association)	0.350
KCNJ10	COPA	psi-mi:“MI:0914”(association)	0.350
MFSD10	NDUFS8	psi-mi:“MI:0914”(association)	0.350
SLC44A3	CLGN	psi-mi:“MI:0914”(association)	0.350
SLC44A5	UPK3BL1	psi-mi:“MI:0914”(association)	0.350

BioGRID (106): TMEM128 (Two-hybrid), TMEM128 (Two-hybrid), TMEM128 (Two-hybrid), GRB2 (Affinity Capture-Luminescence), CREB3L1 (Two-hybrid), RTN4 (Affinity Capture-MS), REEP6 (Affinity Capture-MS), SLC44A1 (Affinity Capture-MS), RTN2 (Affinity Capture-MS), REEP5 (Affinity Capture-MS), FUNDC2 (Affinity Capture-MS), PLSCR1 (Affinity Capture-MS), BCS1L (Affinity Capture-MS), TMEM208 (Affinity Capture-MS), APOB (Affinity Capture-MS)

ESM2 similar proteins: B6UFC7, F4I1G5, O24045, O48550, O64416, P00871, P05348, P08474, P10053, P12357, P16131, P16132, P16133, P16134, P16136, P16138, P18566, P36886, P82412, Q38692, Q38793, Q41373, Q42915, Q5BJH2, Q6H612, Q6NQK9, Q8GWA7, Q8GYC7, Q8H112, Q8L9X2, Q93V66, Q93Z96, Q94A32, Q94AL8, Q94AU9, Q96542, Q9CAC5, Q9FJ81, Q9FL87, Q9FWS4

Diamond homologs: Q3T0S0, Q5BJH2, Q9CZB9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

896 predictions. Top by Δscore:

Variant	Effect	Δscore
4:4237936:C:CC	acceptor_gain	1.0000
4:4240314:AACTT:A	donor_loss	1.0000
4:4240315:ACTT:A	donor_loss	1.0000
4:4240316:CTT:C	donor_loss	1.0000
4:4240317:TTA:T	donor_loss	1.0000
4:4240318:T:TG	donor_loss	1.0000
4:4240319:A:AC	donor_gain	1.0000
4:4240319:A:AT	donor_loss	1.0000
4:4240320:C:CC	donor_gain	1.0000
4:4240476:CCAG:C	acceptor_gain	1.0000
4:4240477:CAG:C	acceptor_gain	1.0000
4:4240477:CAGC:C	acceptor_gain	1.0000
4:4240480:C:CC	acceptor_gain	1.0000
4:4246196:TCTTA:T	donor_loss	1.0000
4:4246197:CTTA:C	donor_loss	1.0000
4:4246198:TTAC:T	donor_loss	1.0000
4:4246199:TACCT:T	donor_loss	1.0000
4:4246200:A:AC	donor_gain	1.0000
4:4246200:ACCT:A	donor_loss	1.0000
4:4246201:C:CC	donor_gain	1.0000
4:4246201:CCTG:C	donor_gain	1.0000
4:4246339:GGTTT:G	acceptor_gain	1.0000
4:4246340:GTTT:G	acceptor_gain	1.0000
4:4246341:TTT:T	acceptor_gain	1.0000
4:4246342:TT:T	acceptor_gain	1.0000
4:4246343:TCTG:T	acceptor_loss	1.0000
4:4246344:C:CC	acceptor_gain	1.0000
4:4246344:C:CG	acceptor_loss	1.0000
4:4246347:C:CT	acceptor_gain	1.0000
4:4246348:A:T	acceptor_gain	1.0000

AlphaMissense

1069 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:4240443:A:C	S92R	0.991
4:4240443:A:T	S92R	0.991
4:4240445:T:G	S92R	0.991
4:4246278:A:G	W55R	0.987
4:4246278:A:T	W55R	0.987
4:4237868:C:G	G156R	0.984
4:4237868:C:T	G156R	0.984
4:4237910:A:G	W142R	0.977
4:4237910:A:T	W142R	0.977
4:4240322:A:G	C133R	0.973
4:4240465:C:T	G85D	0.969
4:4240331:C:G	A130P	0.968
4:4237867:C:T	G156E	0.966
4:4240466:C:G	G85R	0.966
4:4237929:G:C	N135K	0.965
4:4237929:G:T	N135K	0.965
4:4237868:C:A	G156W	0.963
4:4240330:G:T	A130E	0.963
4:4237919:A:G	W139R	0.960
4:4237919:A:T	W139R	0.960
4:4240328:C:G	G131R	0.958
4:4240328:C:T	G131R	0.958
4:4237869:C:A	M155I	0.954
4:4237869:C:G	M155I	0.954
4:4237869:C:T	M155I	0.954
4:4240338:A:C	F127L	0.954
4:4240338:A:T	F127L	0.954
4:4240340:A:G	F127L	0.954
4:4240432:G:T	A96E	0.953
4:4237894:G:C	P147R	0.948

dbSNP variants (sampled 300 via entrez): RS10004703 (4:4248408 C>A,T), RS1000592356 (4:4246836 C>T), RS1001028301 (4:4247053 C>T), RS1001234359 (4:4242828 T>G), RS1001602358 (4:4242626 C>T), RS1001732239 (4:4247016 A>G), RS1001762112 (4:4242180 T>G), RS1001791719 (4:4241051 T>C), RS1002183076 (4:4247249 G>A), RS1002470986 (4:4246081 C>A,T), RS1002637813 (4:4241933 T>C), RS1002742880 (4:4235057 G>GA), RS1003337539 (4:4250106 C>T), RS1003424532 (4:4245678 T>G), RS1004085059 (4:4243660 G>A,C)

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
GCST002314_2	Glomerular filtration rate	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
potassium chromate(VI)	decreases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Ivermectin	decreases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Rotenone	increases expression	1
Testosterone	increases expression	1
Oxyquinoline	decreases expression	1
Cyclosporine	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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