TMEM200B

Summary

TMEM200B (transmembrane protein 200B, HGNC:33785) is a protein-coding gene on chromosome 1p35.3, encoding Transmembrane protein 200B (Q69YZ2).

Predicted to be located in membrane.

Source: NCBI Gene 399474 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 35 total
• MANE Select transcript: NM_001003682

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33785
Approved symbol	TMEM200B
Name	transmembrane protein 200B
Location	1p35.3
Locus type	gene with protein product
Status	Approved
Aliases	TTMB
Ensembl gene	ENSG00000253304
Ensembl biotype	protein_coding
Entrez	399474

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000420504, ENST00000521452, ENST00000870613

RefSeq mRNA: 2 — MANE Select: NM_001003682 NM_001003682, NM_001171868

CCDS: CCDS30658

Canonical transcript exons

ENST00000521452 — 2 exons

Exon	Start	End
ENSE00002244495	29123856	29123903
ENSE00002295764	29119429	29121848

Expression profiles

Bgee: expression breadth ubiquitous, 225 present calls, max score 94.79.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8908 / max 36.5144, expressed in 728 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
11372	1.5585	699
11371	0.3322	117

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of uterus	UBERON:0009853	94.79	gold quality
myometrium	UBERON:0001296	93.50	gold quality
cauda epididymis	UBERON:0004360	93.39	gold quality
seminal vesicle	UBERON:0000998	91.85	gold quality
endocervix	UBERON:0000458	91.65	gold quality
smooth muscle tissue	UBERON:0001135	91.45	gold quality
ectocervix	UBERON:0012249	89.66	gold quality
right ovary	UBERON:0002118	89.12	gold quality
left ovary	UBERON:0002119	89.09	gold quality
muscle layer of sigmoid colon	UBERON:0035805	88.47	gold quality
saphenous vein	UBERON:0007318	88.42	gold quality
uterine cervix	UBERON:0000002	87.87	gold quality
ovary	UBERON:0000992	87.75	gold quality
uterus	UBERON:0000995	86.94	gold quality
prostate gland	UBERON:0002367	86.37	gold quality
popliteal artery	UBERON:0002250	86.13	gold quality
tibial artery	UBERON:0007610	86.12	gold quality
left uterine tube	UBERON:0001303	85.96	gold quality
decidua	UBERON:0002450	85.89	gold quality
aorta	UBERON:0000947	85.81	gold quality
vagina	UBERON:0000996	85.77	gold quality
ascending aorta	UBERON:0001496	85.48	gold quality
urethra	UBERON:0000057	85.44	gold quality
thoracic aorta	UBERON:0001515	85.43	gold quality
female reproductive system	UBERON:0000474	85.25	gold quality
stromal cell of endometrium	CL:0002255	84.88	gold quality
descending thoracic aorta	UBERON:0002345	84.54	gold quality
adult organism	UBERON:0007023	84.54	gold quality
adipose tissue	UBERON:0001013	84.52	gold quality
subcutaneous adipose tissue	UBERON:0002190	84.41	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

68 targeting TMEM200B, 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-7110-3P	100.00	73.18	2486
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6817-3P	99.79	68.35	2126
HSA-MIR-4255	99.72	67.70	1541
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-548AU-3P	99.70	68.22	1373
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-142-3P	99.62	71.30	974
HSA-MIR-7150	99.62	66.80	1322

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem200b	ENSDARG00000104274
mus_musculus	Tmem200b	ENSMUSG00000070720
rattus_norvegicus	Tmem200b	ENSRNOG00000065288
drosophila_melanogaster	CG12502	FBGN0035171
caenorhabditis_elegans	R05D7.3	WBGENE00011028

Paralogs (2): TMEM200A (ENSG00000164484), TMEM200C (ENSG00000206432)

Protein

Protein identifiers

Transmembrane protein 200B — Q69YZ2 (reviewed: Q69YZ2)

Alternative names: Transmembrane protein TTMA, Two transmembrane domain-containing family member B

All UniProt accessions (1): Q69YZ2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM200 family.

RefSeq proteins (2): NP_001003682, NP_001165339 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018787	DUF2371_TMEM200	Family

Pfam: PF10177

UniProt features (10 total): region of interest 3, compositionally biased region 3, transmembrane region 2, chain 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q69YZ2-F1	53.73	0.00

Functional residue map

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

Glycosylation sites (1): 88

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 55 (showing top): BILD_E2F3_ONCOGENIC_SIGNATURE, LIAO_METASTASIS, AGCTCCT_MIR28, chr1p35, GEORGES_TARGETS_OF_MIR192_AND_MIR215, LIU_PROSTATE_CANCER_DN, TOYOTA_TARGETS_OF_MIR34B_AND_MIR34C, CHICAS_RB1_TARGETS_CONFLUENT, HOELZEL_NF1_TARGETS_DN, GCAAGAC_MIR431, JOHNSTONE_PARVB_TARGETS_3_DN, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, FOXD2_TARGET_GENES, KAT2A_TARGET_GENES, KLF7_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

240 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM200B	MTUS2	Q5JR59	542
TMEM200B	MTUS1	Q9ULD2	541
TMEM200B	CD274	Q9NZQ7	447
TMEM200B	MATCAP2	Q8NCT3	417
TMEM200B	CD163L1	Q9NR16	406
TMEM200B	ZBTB39	O15060	400
TMEM200B	SLC67A1	Q96BI1	384
TMEM200B	FAM124B	Q9H5Z6	352
TMEM200B	PDCD1	Q15116	348
TMEM200B	CWH43	Q9H720	330
TMEM200B	CLSTN3	Q9BQT9	322
TMEM200B	C22orf23	Q9BZE7	320
TMEM200B	CSMD2	Q7Z408	317
TMEM200B	VSIG8	P0DPA2	314
TMEM200B	MROH6	A6NGR9	311

IntAct

4 interactions, top by confidence:

A	B	Type	Score
METTL3	TUBAL3	psi-mi:“MI:0914”(association)	0.350
TAGLN	LOC392647	psi-mi:“MI:0914”(association)	0.350
SLC30A5	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (2): TMEM200B (Affinity Capture-MS), TMEM200B (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A2R8YCJ5, A2A699, A2AEV7, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NL88, A8MVW0, A9JSM3, B2RU40, B8ZZ34, C9JH25, D4A9R4, J3QNX5, P0CG09, P98077, Q0VD38, Q14761, Q17QH7, Q29RK8, Q2KJ18, Q2M3V2, Q3SX20, Q5BJT1, Q5HZJ5, Q5RKR3, Q5T442, Q64697, Q69YZ2, Q6PB97, Q6PCT2, Q6UXK2, Q6ZMQ8, Q6ZVH7, Q6ZW31, Q80XF7, Q8BLS7

Diamond homologs: A6NKL6, Q5RGQ8, Q69YZ2, Q86VY9, Q8C817

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	32
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

227 predictions. Top by Δscore:

Variant	Effect	Δscore
1:29123852:TCAC:T	donor_loss	1.0000
1:29123853:CACCT:C	donor_loss	1.0000
1:29123855:C:CG	donor_loss	1.0000
1:29123854:A:AC	donor_gain	0.9900
1:29123855:C:CC	donor_gain	0.9900
1:29123855:CCTGG:C	donor_gain	0.9800
1:29122430:T:TA	donor_gain	0.9300
1:29121845:CGCT:C	acceptor_gain	0.9100
1:29121847:CT:C	acceptor_gain	0.9100
1:29121849:C:CC	acceptor_gain	0.9000
1:29122854:AAGC:A	donor_gain	0.8700
1:29123854:AC:A	donor_gain	0.8700
1:29123855:CC:C	donor_gain	0.8700
1:29122363:CCG:C	donor_gain	0.8400
1:29122362:A:AC	donor_gain	0.8300
1:29122363:C:CC	donor_gain	0.8300
1:29122358:ACAT:A	donor_loss	0.8200
1:29122360:ATACC:A	donor_loss	0.8200
1:29122361:TACCG:T	donor_loss	0.8200
1:29122362:A:T	donor_loss	0.8200
1:29122363:C:G	donor_loss	0.8200
1:29121846:GCTCT:G	acceptor_loss	0.8000
1:29121847:CTCTG:C	acceptor_loss	0.8000
1:29121848:TC:T	acceptor_loss	0.8000
1:29121849:C:A	acceptor_loss	0.8000
1:29121850:T:TC	acceptor_loss	0.8000
1:29121851:G:C	acceptor_loss	0.8000
1:29123167:ATC:A	donor_gain	0.8000
1:29123018:AGGG:A	donor_gain	0.7800
1:29122882:G:A	donor_gain	0.7700

AlphaMissense

1891 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:29121438:A:G	C131R	0.999
1:29121440:A:T	I130N	0.999
1:29121455:C:T	G125D	0.999
1:29121456:C:G	G125R	0.999
1:29121462:C:G	G123R	0.999
1:29121632:C:T	G66D	0.999
1:29121633:C:G	G66R	0.999
1:29121654:C:G	G59R	0.999
1:29121654:C:T	G59R	0.999
1:29121434:G:T	A132D	0.998
1:29121448:G:C	F127L	0.998
1:29121448:G:T	F127L	0.998
1:29121450:A:G	F127L	0.998
1:29121452:A:G	L126P	0.998
1:29121452:A:T	L126Q	0.998
1:29121477:C:G	G118R	0.998
1:29121477:C:T	G118R	0.998
1:29121653:C:T	G59E	0.998
1:29121437:C:T	C131Y	0.997
1:29121461:C:T	G123D	0.997
1:29121464:A:T	M122K	0.997
1:29121629:A:T	M67K	0.997
1:29121654:C:A	G59W	0.997
1:29121435:C:G	A132P	0.996
1:29121440:A:C	I130S	0.996
1:29121440:A:G	I130T	0.996
1:29121464:A:C	M122R	0.996
1:29121473:G:T	P119Q	0.996
1:29121476:C:T	G118E	0.996
1:29121627:C:G	G68R	0.996

dbSNP variants (sampled 300 via entrez): RS1000014912 (1:29119298 ATG>A), RS1000807939 (1:29124070 T>C), RS1000904742 (1:29123630 G>A), RS1000912258 (1:29124970 G>A), RS1001097183 (1:29120434 GTC>G), RS1001507952 (1:29122491 C>G,T), RS1002028424 (1:29121514 GC>G), RS1002210708 (1:29122674 C>A,G,T), RS1002505264 (1:29121725 G>A,C), RS1003088117 (1:29122572 C>T), RS1003506911 (1:29119678 C>G), RS1003607346 (1:29125271 C>T), RS1003637019 (1:29125628 G>A), RS1004614689 (1:29124376 G>C), RS1004644465 (1:29124595 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

3 associations (top):

Study	Trait	p-value
GCST007277_1	Tourette syndrome	2.000000e-06
GCST010536_11	Carotid plaque maximum area	1.000000e-06
GCST010537_9	Mean area of carotid plaque	5.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006501	carotid plaque build

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
Valproic Acid	increases methylation, affects expression, increases expression	3
entinostat	increases expression, affects cotreatment	2
urushiol	increases expression	1
bisphenol A	decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
trichostatin A	increases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Calcitriol	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Aflatoxin B1	decreases expression	1
Antirheumatic Agents	increases expression	1
Cadmium Chloride	decreases expression	1
Palmitic Acid	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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