TMEM243

Summary

TMEM243 (transmembrane protein 243, HGNC:21707) is a protein-coding gene on chromosome 7q21.12, encoding Transmembrane protein 243 (Q9BU79).

Predicted to be located in membrane.

Source: NCBI Gene 79161 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 15 total
• MANE Select transcript: NM_024315

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21707
Approved symbol	TMEM243
Name	transmembrane protein 243
Location	7q21.12
Locus type	gene with protein product
Status	Approved
Aliases	MGC4175, MM-TRAG
Ensembl gene	ENSG00000135185
Ensembl biotype	protein_coding
OMIM	616993
Entrez	79161

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000257637, ENST00000423734, ENST00000433078, ENST00000455575, ENST00000465976, ENST00000474074, ENST00000481425, ENST00000492231, ENST00000872283, ENST00000931204

RefSeq mRNA: 6 — MANE Select: NM_024315 NM_001329472, NM_001329473, NM_001329474, NM_001329475, NM_001410901, NM_024315

CCDS: CCDS5602, CCDS94136

Canonical transcript exons

ENST00000257637 — 4 exons

Exon	Start	End
ENSE00001207780	87219426	87219732
ENSE00003563228	87199007	87199057
ENSE00003565930	87197941	87198045
ENSE00003723502	87196160	87196758

Expression profiles

Bgee: expression breadth ubiquitous, 282 present calls, max score 97.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.4305 / max 336.5762, expressed in 1786 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84710	15.4112	1730
84712	4.2452	1508
84713	1.8365	1250
84708	0.4181	133
84711	0.2607	71
84709	0.2589	111

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left lobe of thyroid gland	UBERON:0001120	97.22	gold quality
right lobe of thyroid gland	UBERON:0001119	97.06	gold quality
thyroid gland	UBERON:0002046	96.79	gold quality
right lung	UBERON:0002167	95.84	gold quality
lymph node	UBERON:0000029	95.48	gold quality
upper lobe of left lung	UBERON:0008952	95.29	gold quality
upper lobe of lung	UBERON:0008948	95.12	gold quality
lung	UBERON:0002048	94.28	gold quality
spleen	UBERON:0002106	93.86	gold quality
metanephros cortex	UBERON:0010533	93.69	gold quality
body of pancreas	UBERON:0001150	93.29	gold quality
lower lobe of lung	UBERON:0008949	93.10	gold quality
endocervix	UBERON:0000458	93.05	gold quality
granulocyte	CL:0000094	92.91	gold quality
left ovary	UBERON:0002119	92.89	gold quality
calcaneal tendon	UBERON:0003701	92.71	gold quality
bronchial epithelial cell	CL:0002328	92.61	gold quality
leukocyte	CL:0000738	92.54	gold quality
vermiform appendix	UBERON:0001154	92.48	gold quality
monocyte	CL:0000576	92.42	gold quality
mononuclear cell	CL:0000842	92.40	gold quality
small intestine Peyer’s patch	UBERON:0003454	92.36	gold quality
right ovary	UBERON:0002118	92.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	92.33	gold quality
superficial temporal artery	UBERON:0001614	92.29	gold quality
tonsil	UBERON:0002372	92.16	gold quality
right uterine tube	UBERON:0001302	92.14	gold quality
epithelium of bronchus	UBERON:0002031	92.11	gold quality
bronchus	UBERON:0002185	92.02	gold quality
descending thoracic aorta	UBERON:0002345	91.76	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	63.96
E-HCAD-6	yes	46.82
E-CURD-112	yes	36.67
E-MTAB-9067	yes	15.29
E-HCAD-10	yes	14.23
E-CURD-122	yes	7.93
E-HCAD-13	yes	7.73
E-CURD-10	no	216.44
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

42 targeting TMEM243, 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-4776-3P	100.00	68.73	1340
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-4696	99.48	67.48	1040
HSA-MIR-7849-3P	99.47	68.17	1224
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-6074	98.89	69.64	2187
HSA-MIR-5590-5P	98.81	68.78	969
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-6873-5P	98.45	66.14	1417
HSA-MIR-550A-3P	98.37	69.61	632
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-200C-5P	97.71	67.73	596
HSA-MIR-4287	97.55	67.24	1247

Literature-anchored findings (GeneRIF, showing 1)

• Data showed MGC4175 fused to the carboxy terminus of enhanced green fluorescent protein (EGFP) was localized to the mitochondria, and its overexpression was not caused by genomic amplification or gene arrangement. (PMID:15556294)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem243b	ENSDARG00000033179
danio_rerio	tmem243a	ENSDARG00000042214
mus_musculus	Tmem243	ENSMUSG00000079659
rattus_norvegicus	Tmem243	ENSRNOG00000042758

Protein

Protein identifiers

Transmembrane protein 243 — Q9BU79 (reviewed: Q9BU79)

Alternative names: MDR1- and mitochondrial taxol resistance-associated protein

All UniProt accessions (2): C9JY04, Q9BU79

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Widely expressed.

Similarity. Belongs to the TMEM243 family.

RefSeq proteins (6): NP_001316401, NP_001316402, NP_001316403, NP_001316404, NP_001397830, NP_077291* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR022564	DUF2678	Family

Pfam: PF10856

UniProt features (5 total): transmembrane region 3, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BU79-F1	70.42	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.

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 205 (showing top): FISCHER_G1_S_CELL_CYCLE, GAUSSMANN_MLL_AF4_FUSION_TARGETS_G_DN, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, ATGTTAA_MIR302C, PUJANA_CHEK2_PCC_NETWORK, FOSTER_TOLERANT_MACROPHAGE_UP, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A4, AAAGACA_MIR511, ACATTCC_MIR1_MIR206, AACTTT_UNKNOWN, CAIRO_HEPATOBLASTOMA_UP, MULLIGHAN_NPM1_SIGNATURE_3_DN, OSMAN_BLADDER_CANCER_DN, SENESE_HDAC3_TARGETS_DN, ATCTTGC_MIR31

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

280 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM243	DMTF1	Q9Y222	601
TMEM243	RUNDC3B	Q96NL0	582
TMEM243	SLC25A40	Q8TBP6	500
TMEM243	FAM237B	A0A1B0GVD1	474
TMEM243	MICOS10	Q5TGZ0	435
TMEM243	ELAPOR2	A8MWY0	407
TMEM243	OR2F1	Q13607	406
TMEM243	FAM151B	Q6UXP7	404
TMEM243	A0A1W2PQG5	A0A1W2PQG5	392
TMEM243	DCUN1D5	Q9BTE7	391
TMEM243	CROT	Q9UKG9	390
TMEM243	CSAG2	Q9Y5P2	371
TMEM243	RBM48	Q5RL73	370
TMEM243	C2orf74	A8MZ97	369
TMEM243	CLDN12	P56749	355

IntAct

128 interactions, top by confidence:

A	B	Type	Score
TMEM243	TMEM101	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	GJA8	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	HSD17B13	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	MRM1	psi-mi:“MI:0915”(physical association)	0.560
TMEM243		psi-mi:“MI:0915”(physical association)	0.560
BIK	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
TMPRSS2	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
CD74	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	ELOVL4	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	LIME1	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	MTIF3	psi-mi:“MI:0915”(physical association)	0.560
EBP	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
CPLX4	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	GPR108	psi-mi:“MI:0915”(physical association)	0.560
SSMEM1	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
GPR152	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
CD79A	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
GPX8	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
TMEM45B	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	ERGIC3	psi-mi:“MI:0915”(physical association)	0.560
TMEM243	SAR1A	psi-mi:“MI:0915”(physical association)	0.560
TMEM101	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
PLP1	TMEM243	psi-mi:“MI:0915”(physical association)	0.560
KIR2DL3	TMEM243	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (48): TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid), TMEM243 (Two-hybrid)

ESM2 similar proteins: A0A078H868, A0A8I3MKU8, A0JNK6, A2R920, A4RE85, A6NN92, A6QTW5, A7RM45, A7S6Y0, A9RA88, B9RK42, F4K2U8, I6VSD2, O43073, P23289, P23290, P35801, P35803, P36965, P46964, P47111, P47790, P79826, Q0D219, Q0UDX8, Q0UUE1, Q12016, Q13491, Q18319, Q1E5A9, Q28FY5, Q2TA63, Q2TZ20, Q2UNJ0, Q3SZR6, Q5BDG8, Q5F3W2, Q5R603, Q5RCD7, Q6DFI2

Diamond homologs: A0JNK6, Q9BU79

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

358 predictions. Top by Δscore:

Variant	Effect	Δscore
7:87198046:C:CA	acceptor_loss	1.0000
7:87198047:T:A	acceptor_loss	1.0000
7:87199005:A:AC	donor_gain	1.0000
7:87199006:C:CC	donor_gain	1.0000
7:87199006:CTA:C	donor_gain	1.0000
7:87199006:CTAG:C	donor_gain	1.0000
7:87199006:CTAGA:C	donor_gain	1.0000
7:87219422:TCA:T	donor_loss	1.0000
7:87219423:CACCT:C	donor_loss	1.0000
7:87219424:A:T	donor_loss	1.0000
7:87196755:AGATC:A	acceptor_loss	0.9900
7:87196756:GATC:G	acceptor_loss	0.9900
7:87196757:ATC:A	acceptor_loss	0.9900
7:87196758:TC:T	acceptor_loss	0.9900
7:87196759:C:CA	acceptor_loss	0.9900
7:87196759:C:CC	acceptor_gain	0.9900
7:87196760:T:A	acceptor_loss	0.9900
7:87197939:A:AC	donor_gain	0.9900
7:87197940:C:CC	donor_gain	0.9900
7:87197940:CAA:C	donor_gain	0.9900
7:87197960:C:CT	donor_gain	0.9900
7:87197961:T:TT	donor_gain	0.9900
7:87198998:GATAC:G	donor_loss	0.9900
7:87198999:ATACT:A	donor_loss	0.9900
7:87199000:TACT:T	donor_loss	0.9900
7:87199001:ACT:A	donor_loss	0.9900
7:87199002:CTTAC:C	donor_loss	0.9900
7:87199003:TTACT:T	donor_loss	0.9900
7:87199004:TACTA:T	donor_loss	0.9900
7:87199005:A:C	donor_loss	0.9900

AlphaMissense

767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:87196720:A:C	F91L	0.998
7:87196720:A:T	F91L	0.998
7:87196722:A:G	F91L	0.998
7:87219444:A:C	F20L	0.998
7:87219444:A:T	F20L	0.998
7:87219446:A:G	F20L	0.998
7:87196677:A:G	C106R	0.997
7:87196745:C:G	R83P	0.997
7:87219445:A:C	F20C	0.997
7:87196667:G:T	A109E	0.996
7:87196739:C:A	G85V	0.996
7:87196752:A:G	W81R	0.996
7:87196752:A:T	W81R	0.996
7:87196671:A:G	C108R	0.995
7:87196675:A:C	C106W	0.995
7:87196721:A:G	F91S	0.995
7:87196740:C:G	G85R	0.995
7:87196740:C:T	G85R	0.995
7:87197976:A:G	C67R	0.995
7:87196661:A:G	L111P	0.994
7:87198029:G:T	A49D	0.994
7:87196663:G:C	N110K	0.993
7:87196663:G:T	N110K	0.993
7:87196733:A:G	L87S	0.993
7:87197942:A:G	L78P	0.993
7:87198041:G:C	T45R	0.993
7:87198041:G:T	T45K	0.993
7:87196721:A:C	F91C	0.992
7:87198031:A:C	S48R	0.992
7:87198031:A:T	S48R	0.992

dbSNP variants (sampled 300 via entrez): RS1000027857 (7:87216529 A>C), RS1000034149 (7:87206390 G>A), RS1000078796 (7:87215416 T>A), RS1000113605 (7:87210253 T>A,G), RS1000130737 (7:87220109 C>T), RS1000188015 (7:87211427 G>A), RS1000267727 (7:87196087 G>A), RS1000313901 (7:87208581 G>A), RS1000405599 (7:87221605 G>A,T), RS1000420992 (7:87202358 T>C), RS1000473548 (7:87201982 C>T), RS1000654501 (7:87197171 G>C), RS1000723940 (7:87195667 G>A), RS1000754179 (7:87203642 T>A,C), RS1000809842 (7:87203371 G>A)

Disease associations

OMIM: gene MIM:616993 | 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
GCST000641_3	Bipolar disorder or major depressive disorder	1.000000e-06
GCST004747_16	Lung cancer in never smokers	2.000000e-06
GCST006803_16	Schizophrenia	4.000000e-14

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

34 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
cobaltous chloride	decreases expression	2
Benzo(a)pyrene	increases expression, increases methylation	2
Doxorubicin	decreases response to substance, increases expression	2
Cyclosporine	increases expression	2
methylmercuric chloride	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
nutlin 3	affects cotreatment, increases expression	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Arsenic Trioxide	affects cotreatment, decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Cisplatin	increases expression, affects cotreatment	1
Dactinomycin	affects cotreatment, increases expression	1
Hydrogen Peroxide	decreases expression, affects cotreatment	1
Selenium	decreases expression	1
Theophylline	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	decreases methylation	1
Tretinoin	decreases expression, affects cotreatment	1
Tunicamycin	increases expression	1
Aflatoxin B1	affects expression	1
Paclitaxel	increases expression, decreases response to substance	1
Cadmium Chloride	decreases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E0RD	Ubigene HeLa TMEM243 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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