TMEM190

Summary

TMEM190 (transmembrane protein 190, HGNC:29632) is a protein-coding gene on chromosome 19q13.42, encoding Transmembrane protein 190 (Q8WZ59).

Predicted to enable identical protein binding activity. Predicted to be involved in hematopoietic progenitor cell differentiation. Located in nucleus.

Source: NCBI Gene 147744 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 42 total
• MANE Select transcript: NM_139172

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29632
Approved symbol	TMEM190
Name	transmembrane protein 190
Location	19q13.42
Locus type	gene with protein product
Status	Approved
Aliases	MDAC1
Ensembl gene	ENSG00000160472
Ensembl biotype	protein_coding
Entrez	147744

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000291934, ENST00000914204

RefSeq mRNA: 1 — MANE Select: NM_139172 NM_139172

CCDS: CCDS33113

Canonical transcript exons

ENST00000291934 — 5 exons

Exon	Start	End
ENSE00001052635	55377593	55377718
ENSE00001052638	55376826	55376911
ENSE00001052640	55376991	55377026
ENSE00001506963	55377975	55378246
ENSE00001506964	55377802	55377886

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 99.12.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1442 / max 44.4166, expressed in 42 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
177607	0.1442	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	99.12	gold quality
bronchial epithelial cell	CL:0002328	96.89	gold quality
bronchus	UBERON:0002185	95.88	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.23	gold quality
left testis	UBERON:0004533	90.56	gold quality
right testis	UBERON:0004534	89.42	gold quality
fallopian tube	UBERON:0003889	88.02	gold quality
testis	UBERON:0000473	86.33	gold quality
epithelium of nasopharynx	UBERON:0001951	86.18	gold quality
nasopharynx	UBERON:0001728	86.16	gold quality
oviduct epithelium	UBERON:0004804	85.84	gold quality
mucosa of paranasal sinus	UBERON:0005030	82.57	gold quality
right lung	UBERON:0002167	81.51	gold quality
left uterine tube	UBERON:0001303	78.94	gold quality
trachea	UBERON:0003126	74.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.57	silver quality
stromal cell of endometrium	CL:0002255	72.61	gold quality
nasal cavity mucosa	UBERON:0001826	72.08	gold quality
pituitary gland	UBERON:0000007	70.94	gold quality
adenohypophysis	UBERON:0002196	69.45	gold quality
right hemisphere of cerebellum	UBERON:0014890	68.41	gold quality
cerebellar hemisphere	UBERON:0002245	67.61	gold quality
cerebellar cortex	UBERON:0002129	67.49	gold quality
nasal cavity epithelium	UBERON:0005384	66.65	silver quality
tendon of biceps brachii	UBERON:0008188	66.65	gold quality
cerebellum	UBERON:0002037	65.62	gold quality
upper lobe of lung	UBERON:0008948	63.04	gold quality
upper lobe of left lung	UBERON:0008952	62.49	gold quality
endocervix	UBERON:0000458	62.18	gold quality
lung	UBERON:0002048	62.06	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-HCAD-8	yes	4140.74
E-MTAB-6653	yes	3874.89
E-MTAB-10283	yes	3570.47
E-CURD-126	yes	3344.28
E-CURD-114	yes	2444.36
E-HCAD-15	yes	1978.10
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem190	ENSMUSG00000013091
rattus_norvegicus	Tmem190	ENSRNOG00000042528

Protein

Protein identifiers

Transmembrane protein 190 — Q8WZ59 (reviewed: Q8WZ59)

All UniProt accessions (1): Q8WZ59

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_631911* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028248	TMEM190	Family
IPR044913	P_trefoil_dom_sf	Homologous_superfamily

Pfam: PF15431

UniProt features (11 total): disulfide bond 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8WZ59-F1	65.61	0.04

Functional residue map

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

Disulfide bonds (3): 55–67, 33–61, 43–60

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 38 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOCC_SECRETORY_GRANULE, LFA1_Q6, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, CYTAGCAAY_UNKNOWN, MODULE_544, GOCC_ACROSOMAL_MEMBRANE, GOCC_SECRETORY_VESICLE, GOCC_SECRETORY_GRANULE_MEMBRANE, GOCC_ACROSOMAL_VESICLE, DODD_NASOPHARYNGEAL_CARCINOMA_DN, FORTSCHEGGER_PHF8_TARGETS_DN, GOCC_INNER_ACROSOMAL_MEMBRANE, MODULE_481

GO Biological Process (1): hematopoietic progenitor cell differentiation (GO:0002244)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (3): inner acrosomal membrane (GO:0002079), nucleus (GO:0005634), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hemopoiesis	1
cell differentiation	1
protein binding	1
binding	1
acrosomal membrane	1
cytoplasmic vesicle membrane	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

364 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM190	SPACA3	Q8IXA5	639
TMEM190	IZUMO1	Q8IYV9	572
TMEM190	FSCB	Q5H9T9	571
TMEM190	SPACA1	Q9HBV2	525
TMEM190	TMEM184A	Q6ZMB5	509
TMEM190	FSIP2	Q5CZC0	503
TMEM190	AK7	Q96M32	471
TMEM190	SPACA5B	Q96QH8	452
TMEM190	CCDC30	Q5VVM6	375
TMEM190	ELAPOR2	A8MWY0	370
TMEM190	C6orf62	Q9GZU0	370
TMEM190	TEKT5	Q96M29	369
TMEM190	MIGA2	Q7L4E1	366
TMEM190	IFT70A	Q86WT1	365
TMEM190	PPP1R2	P41236	364

IntAct

44 interactions, top by confidence:

A	B	Type	Score
LDLRAD1	TMEM190	psi-mi:“MI:0915”(physical association)	0.780
TMEM190	LDLRAD1	psi-mi:“MI:0915”(physical association)	0.780
TMEM190	CD69	psi-mi:“MI:0915”(physical association)	0.720
CD69	TMEM190	psi-mi:“MI:0915”(physical association)	0.720
KRTAP2-3	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
TMEM190	KRTAP2-3	psi-mi:“MI:0915”(physical association)	0.560
TMEM190	TEX29	psi-mi:“MI:0915”(physical association)	0.560
MOB1A	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
MACO1	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
KRTAP5-11	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
TMEM190	KRTAP9-2	psi-mi:“MI:0915”(physical association)	0.560
TMEM190	CLEC2D	psi-mi:“MI:0915”(physical association)	0.560
SPINT1	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
TEX29	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
ARL13B	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
TMEM190	MOB1A	psi-mi:“MI:0915”(physical association)	0.560
CLDN5	TMEM190	psi-mi:“MI:0915”(physical association)	0.560
TMEM190	CD69	psi-mi:“MI:0915”(physical association)	0.000
TMEM190	LDLRAD1	psi-mi:“MI:0915”(physical association)	0.000
TMEM190	CLEC2D	psi-mi:“MI:0915”(physical association)	0.000
MACO1	TMEM190	psi-mi:“MI:0915”(physical association)	0.000
KRTAP5-11	TMEM190	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (14): TMEM190 (Two-hybrid), TMEM190 (Two-hybrid), LDLRAD1 (Two-hybrid), TMEM190 (Two-hybrid), TMEM190 (Two-hybrid), TMEM190 (Two-hybrid), TMEM190 (Two-hybrid), SPINT1 (Two-hybrid), ARL13B (Two-hybrid), CLDN5 (Two-hybrid), LDLRAD1 (Two-hybrid), TMEM57 (Two-hybrid), KRTAP5-11 (Two-hybrid), KRTAP9-2 (Two-hybrid)

ESM2 similar proteins: A0PK05, A1L3I3, E1BJD3, E2R0A5, O43278, P24338, P28236, P29414, P31955, P48165, P55917, P98153, P98154, Q01580, Q06175, Q06186, Q09118, Q0VCT2, Q1RMT9, Q2KHT9, Q2YDG7, Q32L09, Q56A20, Q5HZE8, Q5RCS3, Q6DGF9, Q7SXB3, Q7TMJ8, Q7TNI2, Q80ZA7, Q8BJN4, Q8C3K5, Q8CAK3, Q8K4Q9, Q8N0W7, Q8R182, Q8WZ59, Q91ZV2, Q91ZV3, Q921R4

Diamond homologs: E1BJD3, E2R0A5, Q8WZ59, Q9D2E9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

487 predictions. Top by Δscore:

Variant	Effect	Δscore
19:55377027:G:GG	donor_gain	1.0000
19:55376909:CAG:C	donor_loss	0.9900
19:55376910:AGGTG:A	donor_loss	0.9900
19:55376911:GG:G	donor_loss	0.9900
19:55376913:T:G	donor_loss	0.9900
19:55377024:G:GT	donor_gain	0.9900
19:55377024:GGA:G	donor_gain	0.9900
19:55377025:GA:G	donor_gain	0.9900
19:55377025:GAG:G	donor_gain	0.9900
19:55377059:G:GT	donor_gain	0.9900
19:55377060:G:T	donor_gain	0.9900
19:55377093:G:GT	donor_gain	0.9900
19:55377097:G:GT	donor_gain	0.9900
19:55377129:G:GT	donor_gain	0.9900
19:55377130:G:T	donor_gain	0.9900
19:55376909:C:T	donor_gain	0.9800
19:55377023:TGGA:T	donor_gain	0.9800
19:55377064:G:T	donor_gain	0.9800
19:55377094:G:T	donor_gain	0.9800
19:55377133:G:GT	donor_gain	0.9800
19:55377715:GACG:G	donor_gain	0.9800
19:55377716:ACGG:A	donor_loss	0.9700
19:55377720:T:TC	donor_loss	0.9700
19:55377800:A:AG	acceptor_gain	0.9700
19:55377801:G:GG	acceptor_gain	0.9700
19:55376989:A:AG	acceptor_gain	0.9600
19:55376990:G:GG	acceptor_gain	0.9600
19:55377064:G:GT	donor_gain	0.9600
19:55377130:G:GT	donor_gain	0.9600
19:55377673:C:CA	acceptor_gain	0.9600

AlphaMissense

1148 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:55377625:T:A	C43S	0.994
19:55377626:G:C	C43S	0.994
19:55377661:T:A	C55S	0.994
19:55377662:G:C	C55S	0.994
19:55377697:T:A	C67S	0.994
19:55377698:G:C	C67S	0.994
19:55377626:G:A	C43Y	0.993
19:55377676:T:A	C60S	0.993
19:55377677:G:C	C60S	0.993
19:55377697:T:C	C67R	0.993
19:55377661:T:C	C55R	0.992
19:55377663:C:G	C55W	0.992
19:55377699:C:G	C67W	0.991
19:55377625:T:C	C43R	0.990
19:55377662:G:A	C55Y	0.990
19:55377676:T:C	C60R	0.990
19:55377627:T:G	C43W	0.989
19:55377678:C:G	C60W	0.989
19:55377698:G:A	C67Y	0.989
19:55377596:G:A	C33Y	0.988
19:55377864:A:C	S95R	0.987
19:55377866:C:A	S95R	0.987
19:55377866:C:G	S95R	0.987
19:55377595:T:A	C33S	0.986
19:55377596:G:C	C33S	0.986
19:55377626:G:T	C43F	0.986
19:55377011:T:C	F27L	0.985
19:55377013:C:A	F27L	0.985
19:55377013:C:G	F27L	0.985
19:55377677:G:A	C60Y	0.985

dbSNP variants (sampled 300 via entrez): RS1000124409 (19:55377627 T>C), RS1000407479 (19:55377279 G>A), RS1000945858 (19:55376800 T>A,C,G), RS1001754667 (19:55375685 G>A), RS1001799612 (19:55378462 G>A), RS1002082790 (19:55378286 C>T), RS1003171235 (19:55376851 G>T), RS1004334751 (19:55377515 A>C,G), RS1004655346 (19:55376699 T>C), RS1006277171 (19:55378644 C>T), RS1007085893 (19:55375273 C>G), RS1008746617 (19:55376342 G>A,T), RS1009384650 (19:55378306 G>A), RS1009848661 (19:55378496 T>C), RS1010798833 (19:55377441 T>A)

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
GCST006585_456	Blood protein levels	0.000000e+00

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression	2
bisphenol A	affects expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Rotenone	increases expression	1
Smoke	increases abundance, increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Aflatoxin B1	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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