TMEM19

Summary

TMEM19 (transmembrane protein 19, HGNC:25605) is a protein-coding gene on chromosome 12q21.1, encoding Transmembrane protein 19 (Q96HH6).

Predicted to be active in membrane.

Source: NCBI Gene 55266 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 63 total
• MANE Select transcript: NM_018279

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25605
Approved symbol	TMEM19
Name	transmembrane protein 19
Location	12q21.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10936
Ensembl gene	ENSG00000139291
Ensembl biotype	protein_coding
Entrez	55266

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 9 protein_coding

ENST00000266673, ENST00000546677, ENST00000546795, ENST00000549735, ENST00000550524, ENST00000550787, ENST00000896175, ENST00000896176, ENST00000937809

RefSeq mRNA: 1 — MANE Select: NM_018279 NM_018279

CCDS: CCDS9002

Canonical transcript exons

ENST00000266673 — 6 exons

Exon	Start	End
ENSE00001194687	71698900	71699109
ENSE00001430998	71700832	71705047
ENSE00002340074	71686082	71686810
ENSE00003479227	71697280	71697534
ENSE00003522984	71689591	71689704
ENSE00003540405	71696436	71696573

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 95.15.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.1572 / max 125.2639, expressed in 1780 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
126823	7.4319	1729
126827	2.0245	1112
126826	1.7686	1013
126825	0.9776	526
126824	0.5985	305
126828	0.3560	175

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ileal mucosa	UBERON:0000331	95.15	gold quality
ileum	UBERON:0002116	95.05	silver quality
upper arm skin	UBERON:0004263	94.87	gold quality
left ventricle myocardium	UBERON:0006566	94.16	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.64	gold quality
kidney epithelium	UBERON:0004819	92.48	gold quality
esophagus squamous epithelium	UBERON:0006920	92.10	gold quality
jejunal mucosa	UBERON:0000399	91.91	gold quality
pancreatic ductal cell	CL:0002079	91.54	silver quality
duodenum	UBERON:0002114	91.40	gold quality
upper leg skin	UBERON:0004262	91.28	gold quality
skin of hip	UBERON:0001554	90.86	gold quality
epithelial cell of pancreas	CL:0000083	90.14	gold quality
bone marrow cell	CL:0002092	90.07	gold quality
islet of Langerhans	UBERON:0000006	90.00	gold quality
penis	UBERON:0000989	90.00	gold quality
epithelium of nasopharynx	UBERON:0001951	89.94	gold quality
nasopharynx	UBERON:0001728	89.92	gold quality
myocardium	UBERON:0002349	89.78	gold quality
esophagus mucosa	UBERON:0002469	89.76	gold quality
bronchial epithelial cell	CL:0002328	89.16	gold quality
biceps brachii	UBERON:0001507	89.11	gold quality
tibialis anterior	UBERON:0001385	89.06	silver quality
vastus lateralis	UBERON:0001379	89.03	gold quality
bronchus	UBERON:0002185	88.45	gold quality
gingival epithelium	UBERON:0001949	88.41	gold quality
gingiva	UBERON:0001828	88.27	gold quality
rectum	UBERON:0001052	88.25	gold quality
quadriceps femoris	UBERON:0001377	88.17	gold quality
deltoid	UBERON:0001476	88.17	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	15.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

111 targeting TMEM19, 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-3613-3P	100.00	76.36	7965
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-146A-5P	99.96	68.93	988
HSA-MIR-146B-5P	99.96	69.13	977
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-7153-5P	99.94	68.89	1006
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-6780A-5P	99.88	66.69	2776

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000098186
mus_musculus	Tmem19	ENSMUSG00000069520
rattus_norvegicus	Tmem19	ENSRNOG00000003985
drosophila_melanogaster	CG10171	FBGN0036353

Protein

Protein identifiers

Transmembrane protein 19 — Q96HH6 (reviewed: Q96HH6)

All UniProt accessions (5): Q96HH6, F8VRE8, F8VS20, H0YHY1, H0YIS8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM19 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96HH6-1	1	yes
Q96HH6-2	2

RefSeq proteins (1): NP_060749* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002794	DUF92_TMEM19	Family

Pfam: PF01940

UniProt features (12 total): transmembrane region 6, sequence conflict 3, splice variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96HH6-F1	91.19	0.70

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 106 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, WEI_MYCN_TARGETS_WITH_E_BOX, chr12q21, NIKOLSKY_BREAST_CANCER_12Q13_Q21_AMPLICON, NUYTTEN_EZH2_TARGETS_DN, MARSON_BOUND_BY_FOXP3_STIMULATED, LINDGREN_BLADDER_CANCER_CLUSTER_1_UP, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN, IL2_UP.V1_DN, KIM_MYCN_AMPLIFICATION_TARGETS_DN, ATF6_TARGET_GENES, HOXB6_TARGET_GENES, PAX3_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

654 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM19	NTN5	Q8WTR8	521
TMEM19	RUNDC3A	Q59EK9	506
TMEM19	SAAL1	Q96ER3	506
TMEM19	SERGEF	Q9UGK8	496
TMEM19	SLC68A1	Q14CX5	457
TMEM19	MDGA1	Q8NFP4	456
TMEM19	TMEM216	Q9P0N5	454
TMEM19	BPIFB1	Q8TDL5	447
TMEM19	SLC30A5	Q8TAD4	443
TMEM19	LIPN	Q5VXI9	441
TMEM19	ATRN	O75882	433
TMEM19	SCARF1	Q14162	431
TMEM19	ADAMTS7	Q9UKP4	429
TMEM19	COL4A2	P08572	387
TMEM19	INO80D	Q53TQ3	382

IntAct

123 interactions, top by confidence:

A	B	Type	Score
TMEM19	BSCL2	psi-mi:“MI:0915”(physical association)	0.670
BSCL2	TMEM19	psi-mi:“MI:0915”(physical association)	0.670
BSCL2	TMEM19	psi-mi:“MI:0915”(physical association)	0.600
CD3G	TMEM19	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	TLCD4	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	TMEM45A	psi-mi:“MI:0915”(physical association)	0.560
TMEM19		psi-mi:“MI:0915”(physical association)	0.560
TMEM19	GORAB	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	C10orf67	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	LY6E	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	SLC7A1	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	SERTM1	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	CPLX4	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	PIGP	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	SUSD6	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	LEPROTL1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (46): TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid), TMEM19 (Two-hybrid)

ESM2 similar proteins: A5D7E2, B2GV22, E1BYA3, E7EY42, I1MSF2, K7LC65, O04928, O04940, O08888, O13901, O45145, O49639, O81062, O94673, P36051, P38221, P53439, P54002, P56079, Q08D11, Q1PE48, Q4KLL4, Q54PP1, Q54XM0, Q55D90, Q5A3M6, Q5GKZ7, Q5RDY2, Q5RF73, Q6C0Z3, Q6CW36, Q6P726, Q753I3, Q757X5, Q7Z139, Q7Z7B1, Q8BH24, Q8RWW1, Q8WZK2, Q91W52

Diamond homologs: Q0P4L9, Q0WP96, Q5RF73, Q6IR76, Q6P726, Q91W52, Q96HH6, Q58343

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	1
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

1150 predictions. Top by Δscore:

Variant	Effect	Δscore
12:71686521:G:GT	donor_gain	1.0000
12:71696431:TTCA:T	acceptor_loss	1.0000
12:71696433:CA:C	acceptor_loss	1.0000
12:71696434:A:AC	acceptor_loss	1.0000
12:71696434:A:AG	acceptor_gain	1.0000
12:71696434:AG:A	acceptor_gain	1.0000
12:71696435:G:A	acceptor_loss	1.0000
12:71696435:G:GA	acceptor_gain	1.0000
12:71696435:G:T	acceptor_loss	1.0000
12:71696435:GG:G	acceptor_gain	1.0000
12:71696435:GGGCT:G	acceptor_gain	1.0000
12:71696570:G:GT	donor_gain	1.0000
12:71696570:GAAGG:G	donor_loss	1.0000
12:71696571:A:T	donor_gain	1.0000
12:71696571:AAG:A	donor_loss	1.0000
12:71696571:AAGGT:A	donor_loss	1.0000
12:71696572:AGG:A	donor_loss	1.0000
12:71696572:AGGT:A	donor_loss	1.0000
12:71696574:GTAAA:G	donor_loss	1.0000
12:71696575:T:G	donor_loss	1.0000
12:71697275:TCCA:T	acceptor_loss	1.0000
12:71697276:CCAG:C	acceptor_loss	1.0000
12:71697277:CA:C	acceptor_loss	1.0000
12:71697278:AGGT:A	acceptor_gain	1.0000
12:71697279:GGT:G	acceptor_gain	1.0000
12:71697279:GGTG:G	acceptor_gain	1.0000
12:71697531:GTTG:G	donor_gain	1.0000
12:71698894:CTTCA:C	acceptor_loss	1.0000
12:71698896:TCA:T	acceptor_loss	1.0000
12:71698897:CA:C	acceptor_loss	1.0000

AlphaMissense

2169 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:71698938:A:C	S226R	0.999
12:71698940:T:A	S226R	0.999
12:71698940:T:G	S226R	0.999
12:71697337:C:A	A147D	0.998
12:71689620:T:A	W54R	0.997
12:71689620:T:C	W54R	0.997
12:71696447:G:A	G86R	0.997
12:71696447:G:C	G86R	0.997
12:71696448:G:A	G86E	0.997
12:71697289:G:T	R131M	0.997
12:71697290:G:C	R131S	0.997
12:71697290:G:T	R131S	0.997
12:71697454:A:C	D186A	0.997
12:71697454:A:T	D186V	0.997
12:71697459:T:A	W188R	0.997
12:71697459:T:C	W188R	0.997
12:71698962:G:C	G234R	0.997
12:71697289:G:C	R131T	0.996
12:71697316:G:A	G140E	0.996
12:71697451:G:A	G185E	0.996
12:71697454:A:G	D186G	0.996
12:71698909:G:A	G216E	0.996
12:71698951:G:A	G230D	0.996
12:71698963:G:A	G234D	0.996
12:71699056:G:A	G265E	0.996
12:71699065:G:A	G268E	0.996
12:71700928:T:C	L315P	0.996
12:71689692:G:T	G78W	0.995
12:71689704:G:A	G82R	0.995
12:71689704:G:C	G82R	0.995

dbSNP variants (sampled 300 via entrez): RS1000005058 (12:71690431 G>A), RS1000114555 (12:71696988 C>T), RS1000250792 (12:71696791 C>T), RS1000267475 (12:71703249 A>C,G), RS1000464337 (12:71695660 A>G), RS1000670958 (12:71701665 G>T), RS1000805495 (12:71702946 G>A), RS1001020277 (12:71702013 C>T), RS1001065338 (12:71701595 A>G), RS1001378672 (12:71684738 G>A), RS1001456141 (12:71698138 T>G), RS1001491487 (12:71685149 G>A), RS1001754166 (12:71691534 C>A), RS1001758856 (12:71697836 G>A), RS1001786665 (12:71696631 GT>G,GTT,GTTT)

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
GCST004166_17	Nonsyndromic cleft lip with cleft palate	1.000000e-12

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003959	cleft lip

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
sodium arsenite	decreases expression, increases expression	2
Valproic Acid	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
methylparaben	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
hydroquinone	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Temozolomide	affects response to substance	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Carbamazepine	affects expression	1
Carmustine	affects response to substance	1
Coumestrol	increases expression	1
Nickel	decreases expression	1
Polystyrenes	decreases expression	1
Quercetin	decreases expression	1

Clinical trials (associated diseases)

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