TMEM187

Summary

TMEM187 (transmembrane protein 187, HGNC:13705) is a protein-coding gene on chromosome Xq28, encoding Transmembrane protein 187 (Q14656).

This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined.

Source: NCBI Gene 8269 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 69 total — 2 pathogenic
• MANE Select transcript: NM_003492

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13705
Approved symbol	TMEM187
Name	transmembrane protein 187
Location	Xq28
Locus type	gene with protein product
Status	Approved
Aliases	ITBA1, DXS9878E
Ensembl gene	ENSG00000177854
Ensembl biotype	protein_coding
OMIM	300059
Entrez	8269

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000369982, ENST00000425274, ENST00000431598, ENST00000855602, ENST00000855603, ENST00000855604

RefSeq mRNA: 1 — MANE Select: NM_003492 NM_003492

CCDS: CCDS14739

Canonical transcript exons

ENST00000369982 — 2 exons

Exon	Start	End
ENSE00001252847	153981850	153983194
ENSE00001451412	153972754	153972860

Expression profiles

Bgee: expression breadth ubiquitous, 240 present calls, max score 90.32.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 5.6304 / max 42.4118, expressed in 1696 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
198114	2.7148	1364
198115	2.0888	1263
198113	0.5888	299
198116	0.1456	85
198117	0.0923	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium epithelium	UBERON:0004811	90.32	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.81	gold quality
body of pancreas	UBERON:0001150	83.11	gold quality
right adrenal gland	UBERON:0001233	82.95	gold quality
right adrenal gland cortex	UBERON:0035827	82.87	gold quality
mucosa of transverse colon	UBERON:0004991	82.86	gold quality
apex of heart	UBERON:0002098	81.86	gold quality
left adrenal gland	UBERON:0001234	81.65	gold quality
left adrenal gland cortex	UBERON:0035825	81.39	gold quality
tendon of biceps brachii	UBERON:0008188	81.23	silver quality
right uterine tube	UBERON:0001302	81.04	gold quality
adrenal cortex	UBERON:0001235	80.93	gold quality
parotid gland	UBERON:0001831	80.00	silver quality
right coronary artery	UBERON:0001625	79.86	gold quality
granulocyte	CL:0000094	79.62	gold quality
right lobe of liver	UBERON:0001114	79.49	gold quality
pancreas	UBERON:0001264	79.49	gold quality
stromal cell of endometrium	CL:0002255	79.33	gold quality
adrenal gland	UBERON:0002369	79.12	gold quality
skin of leg	UBERON:0001511	78.95	gold quality
epithelium of esophagus	UBERON:0001976	78.86	gold quality
right ovary	UBERON:0002118	78.81	gold quality
decidua	UBERON:0002450	78.78	silver quality
heart left ventricle	UBERON:0002084	78.72	gold quality
left coronary artery	UBERON:0001626	78.62	gold quality
blood	UBERON:0000178	78.54	gold quality
popliteal artery	UBERON:0002250	78.47	gold quality
tibial artery	UBERON:0007610	78.45	gold quality
cardiac ventricle	UBERON:0002082	78.42	gold quality
left ovary	UBERON:0002119	78.31	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting TMEM187, 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-8485	100.00	77.57	4731
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-148A-3P	99.74	73.77	1700
HSA-MIR-148B-3P	99.74	73.75	1700
HSA-MIR-152-3P	99.74	73.75	1703
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-147B-5P	99.45	70.62	2432
HSA-MIR-377-3P	99.37	70.18	1905
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-3619-5P	99.00	68.87	2308
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-5008-3P	98.73	67.50	1433
HSA-MIR-214-3P	98.71	68.12	2128
HSA-MIR-761	98.71	68.07	2051
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-581	98.39	67.42	835
HSA-MIR-3664-3P	97.85	67.62	1452
HSA-MIR-192-3P	97.52	67.66	1001
HSA-MIR-6818-5P	97.50	67.10	1167
HSA-MIR-382-5P	96.71	65.90	762

Literature-anchored findings (GeneRIF, showing 3)

• study investigated association between 3 polymorphisms in the Xq28 region containing TMEM187 and IRAK1 (rs13397, rs1059703, and rs1059702) with rheumatoid arthritis (RA)susceptibility; results replicated association of the 3 Xq28 polymorphisms with RA risk in Tunisian and French populations and suggested that RA susceptibility is associated with TMEM187-IRAK1 polymorphisms in women (PMID:28271077)
• Transmembrane Protein 187 (TMEM187) and Interleukin 1 Receptor Associated Kinase (IRAK1) gene polymorphism association with rheumatoid arthritis susceptibility in Egyptian patients. (PMID:37440666)
• Sex bias in celiac disease: XWAS and monocyte eQTLs in women identify TMEM187 as a functional candidate gene. (PMID:38072919)

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem187	ENSDARG00000051989

Protein

Protein identifiers

Transmembrane protein 187 — Q14656 (reviewed: Q14656)

Alternative names: Protein ITBA1

All UniProt accessions (3): C9JIP7, C9JV55, Q14656

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Ubiquitous.

RefSeq proteins (1): NP_003483* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028066	TMEM187	Family

Pfam: PF15100

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

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14656-F1	92.12	0.89

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 112 (showing top): E2F_Q4, E2F_Q4_01, PAX4_01, E2F4DP1_01, GGGNRMNNYCAT_UNKNOWN, CGGAARNGGCNG_UNKNOWN, TGACCTY_ERR1_Q2, HNF1_Q6, GGGTGGRR_PAX4_03, YY1_Q6, GGCNKCCATNK_UNKNOWN, PAX2_01, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, E2F1DP1_01, E2F_Q3

GO Biological Process (0):

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

GO Cellular Component (2): membrane (GO:0016020), transport vesicle (GO:0030133)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1

Protein interactions and networks

STRING

328 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM187	LAGE3	Q14657	943
TMEM187	L1CAM	P32004	757
TMEM187	HCFC1	P51610	692
TMEM187	MECP2	P51608	534
TMEM187	AKAP4	Q5JQC9	533
TMEM187	TASL	Q9HAI6	524
TMEM187	RBM25	P49756	500
TMEM187	UBL4A	P11441	496
TMEM187	IRAK1	P51617	489
TMEM187	GNL3L	Q9NVN8	473
TMEM187	NAA10	P41227	446
TMEM187	OSGEPL1	Q9H4B0	430
TMEM187	RENBP	P51606	400
TMEM187	ARHGAP4	P98171	393
TMEM187	GPHN	Q9NQX3	381

IntAct

45 interactions, top by confidence:

A	B	Type	Score
TMEM187	CGRRF1	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	SPAG4	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
CD79A	TMEM187	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	GORAB	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	CISD2	psi-mi:“MI:0915”(physical association)	0.560
PGRMC2	TMEM187	psi-mi:“MI:0915”(physical association)	0.560
MUC1	TMEM187	psi-mi:“MI:0915”(physical association)	0.560
LEUTX	TMEM187	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	SAR1A	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	ARL13B	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	TAS2R5	psi-mi:“MI:0915”(physical association)	0.560
COMT	TMEM187	psi-mi:“MI:0915”(physical association)	0.560
TMEM187	ADRB2	psi-mi:“MI:0915”(physical association)	0.370
CREB3	TMEM187	psi-mi:“MI:0915”(physical association)	0.370
TMEM187	SPAG4	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	GORAB	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	CISD2	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	PGRMC2	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	MUC1	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	LEUTX	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	SAR1A	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	ARL13B	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	TAS2R5	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	TMEM14B	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	CD79A	psi-mi:“MI:0915”(physical association)	0.000
TMEM187	FAM210B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (17): TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), TMEM187 (Two-hybrid), MUC1 (Two-hybrid), LEUTX (Two-hybrid), TMEM187 (Two-hybrid)

ESM2 similar proteins: A2A559, A2V7M9, A2Z1F5, A7YWP2, A8WFS8, B4PF15, B8AIW3, F4K2U8, I6VSD2, Q0VCM2, Q0VD42, Q0VFE3, Q14656, Q28FY5, Q29M88, Q32LM8, Q3SZR6, Q3TYE7, Q49LS6, Q568I2, Q5FWM8, Q60WT2, Q67WQ7, Q68EV0, Q69PA8, Q6DFI2, Q6DGL7, Q6ETL8, Q6TCG2, Q6ZRR5, Q6ZVX9, Q753C1, Q75F81, Q8BPS4, Q8BVF7, Q8IXM6, Q8JHE9, Q8N4S7, Q8R4X1, Q8TDN7

Diamond homologs: Q0VCM2, Q14656

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	0
Uncertain significance	46
Likely benign	8
Benign	2

Top pathogenic / likely-pathogenic (2)

Variant ID	HGVS	Classification
565266	GRCh37/hg19 Xq28(chrX:153123907-153431401)x2	Pathogenic
625653	GRCh37/hg19 Xq28(chrX:153174571-153609996)	Pathogenic

SpliceAI

366 predictions. Top by Δscore:

Variant	Effect	Δscore
X:153981846:A:AG	acceptor_gain	1.0000
X:153981846:AAAG:A	acceptor_gain	1.0000
X:153981847:A:G	acceptor_gain	1.0000
X:153981840:A:AG	acceptor_gain	0.9900
X:153981841:A:G	acceptor_gain	0.9900
X:153981844:A:AG	acceptor_gain	0.9900
X:153981845:C:G	acceptor_gain	0.9900
X:153981845:CAAA:C	acceptor_loss	0.9900
X:153981849:G:A	acceptor_loss	0.9900
X:153972835:A:AG	donor_gain	0.9800
X:153972861:G:GG	donor_gain	0.9800
X:153981848:A:G	acceptor_gain	0.9800
X:153981849:G:GG	acceptor_gain	0.9800
X:153981849:GGAAA:G	acceptor_gain	0.9800
X:153972859:CT:C	donor_gain	0.9700
X:153981848:AG:A	acceptor_gain	0.9700
X:153981849:GG:G	acceptor_gain	0.9700
X:153981849:GGAA:G	acceptor_gain	0.9700
X:153982026:TGAAG:T	acceptor_gain	0.9700
X:153973085:TCTAG:T	donor_gain	0.9600
X:153981837:T:TA	acceptor_gain	0.9600
X:153981847:AAG:A	acceptor_gain	0.9600
X:153981849:GGA:G	acceptor_gain	0.9600
X:153972857:TACT:T	donor_gain	0.9500
X:153973864:GAC:G	donor_gain	0.9500
X:153973865:ACA:A	donor_gain	0.9500
X:153972858:ACTG:A	donor_loss	0.9400
X:153972859:CTG:C	donor_loss	0.9400
X:153972860:TG:T	donor_loss	0.9400
X:153972862:TAAG:T	donor_loss	0.9400

AlphaMissense

1673 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:153982672:T:C	F204L	0.989
X:153982674:T:A	F204L	0.989
X:153982674:T:G	F204L	0.989
X:153982516:A:C	S152R	0.985
X:153982518:T:A	S152R	0.985
X:153982518:T:G	S152R	0.985
X:153982549:T:C	F163L	0.981
X:153982551:C:A	F163L	0.981
X:153982551:C:G	F163L	0.981
X:153982429:T:C	F123L	0.980
X:153982431:T:A	F123L	0.980
X:153982431:T:G	F123L	0.980
X:153982752:G:C	K230N	0.973
X:153982752:G:T	K230N	0.973
X:153982435:T:A	W125R	0.968
X:153982435:T:C	W125R	0.968
X:153982327:T:C	F89L	0.966
X:153982329:C:A	F89L	0.966
X:153982329:C:G	F89L	0.966
X:153982411:T:A	W117R	0.962
X:153982411:T:C	W117R	0.962
X:153982406:A:T	D115V	0.959
X:153982245:C:A	N61K	0.958
X:153982245:C:G	N61K	0.958
X:153982744:T:A	W228R	0.957
X:153982744:T:C	W228R	0.957
X:153982673:T:C	F204S	0.955
X:153982720:T:C	F220L	0.953
X:153982722:C:A	F220L	0.953
X:153982722:C:G	F220L	0.953

dbSNP variants (sampled 300 via entrez): RS1000646328 (X:153971661 C>G), RS1000733473 (X:153981254 C>G), RS1000933507 (X:153971902 C>A,G,T), RS1001209479 (X:153977512 T>A,C), RS1001324157 (X:153977295 A>C), RS1002408373 (X:153979776 G>A), RS1002994534 (X:153974928 G>A), RS1003337504 (X:153975309 T>C), RS1003695319 (X:153982832 G>A), RS1003846302 (X:153983192 A>G), RS1004777865 (X:153977348 T>C), RS1005378555 (X:153973706 C>A,T), RS1005906095 (X:153973319 A>T), RS1006500637 (X:153975433 C>T), RS1006796727 (X:153975904 C>G)

Disease associations

OMIM: gene MIM:300059 | disease phenotypes: MIM:300260

GenCC curated gene-disease

Mondo (1): syndromic X-linked intellectual disability Lubs type (MONDO:0010283)

Orphanet (1): Proximal Xq28 duplication syndrome (Orphanet:1762)

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST003155_27	Systemic lupus erythematosus	2.000000e-15
GCST003599_17	Systemic lupus erythematosus	4.000000e-10
GCST005523_40	Celiac disease	3.000000e-08
GCST005568_10	Rheumatoid arthritis (ACPA-positive)	1.000000e-12
GCST005569_32	Rheumatoid arthritis	3.000000e-12

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C537723	Lubs X-linked mental retardation syndrome (supp.)

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	affects methylation, decreases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Tobacco Smoke Pollution	decreases expression, decreases methylation	2
aristolochic acid I	increases expression	1
GSK-J4	decreases expression	1
Esketamine	decreases expression	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
arsenite	affects binding, increases reaction	1
dinophysistoxin 1	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	increases 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	increases expression	1
Estradiol	decreases expression	1
Fluorouracil	decreases expression	1
Niclosamide	increases expression	1
Phenobarbital	affects expression	1
Quercetin	increases expression	1
Thiram	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D9UF	Ubigene HEK293 TMEM187 KO	Transformed cell line	Female
CVCL_E0WT	Ubigene K-562 TMEM187 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03077308	Not specified	COMPLETED	Rare Diseases Clinical Research Network: Neurophysiological Correlates
NCT06615206	Not specified	RECRUITING	A First-in-Human Clinical Trial to Evaluate the Safety, Tolerability, and Efficacy of a Novel CRISPR RNA-editing Therapy in Patients with Mecp2 Duplication Syndrome, a Rare Orphan Disease (HERO)