TMEM245

Summary

TMEM245 (transmembrane protein 245, HGNC:1363) is a protein-coding gene on chromosome 9q31.3, encoding Transmembrane protein 245 (Q9H330).

Predicted to be located in membrane.

Source: NCBI Gene 23731 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 128 total — 1 pathogenic
• MANE Select transcript: NM_032012

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1363
Approved symbol	TMEM245
Name	transmembrane protein 245
Location	9q31.3
Locus type	gene with protein product
Status	Approved
Aliases	CG-2
Ensembl gene	ENSG00000106771
Ensembl biotype	protein_coding
OMIM	620252
Entrez	23731

Gene structure

Transcript identifiers

Ensembl transcripts: 59 — 56 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000374586, ENST00000413712, ENST00000472207, ENST00000482868, ENST00000491854, ENST00000894208, ENST00000894209, ENST00000894210, ENST00000894211, ENST00000894212, ENST00000894213, ENST00000894214, ENST00000894215, ENST00000894216, ENST00000894217, ENST00000894218, ENST00000894219, ENST00000894220, ENST00000894221, ENST00000894222, ENST00000894223, ENST00000894224, ENST00000894225, ENST00000894226, ENST00000932034, ENST00000951994, ENST00000951995, ENST00000951996, ENST00000951997, ENST00000951998, ENST00000951999, ENST00000952000, ENST00000952001, ENST00000952002, ENST00000952003, ENST00000952004, ENST00000952005, ENST00000952006, ENST00000952007, ENST00000952008, ENST00000952009, ENST00000952010, ENST00000952011, ENST00000952012, ENST00000952013, ENST00000952014, ENST00000952015, ENST00000952016, ENST00000952017, ENST00000952018, ENST00000952019, ENST00000952020, ENST00000952021, ENST00000952022, ENST00000952023, ENST00000952024, ENST00000952025, ENST00000952026, ENST00000952027

RefSeq mRNA: 1 — MANE Select: NM_032012 NM_032012

CCDS: CCDS43858

Canonical transcript exons

ENST00000374586 — 18 exons

Exon	Start	End
ENSE00000806022	109087173	109087342
ENSE00001164919	109090922	109091155
ENSE00001181374	109085997	109086020
ENSE00001181383	109093475	109093591
ENSE00001181391	109108453	109108570
ENSE00001181397	109119335	109119947
ENSE00001217319	109080839	109080943
ENSE00001837516	109015135	109020505
ENSE00002721827	109073356	109073438
ENSE00003474507	109064477	109064567
ENSE00003558722	109036206	109036380
ENSE00003600560	109106508	109106609
ENSE00003619487	109057191	109057322
ENSE00003622119	109050570	109050692
ENSE00003632739	109060354	109060452
ENSE00003635476	109038017	109038117
ENSE00003649239	109033307	109033501
ENSE00003684981	109050283	109050428

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 99.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4510 / max 164.8840, expressed in 1805 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
101876	20.8273	1804
101874	0.5203	241
101875	0.1034	37

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cardiac muscle of right atrium	UBERON:0003379	99.44	gold quality
kidney epithelium	UBERON:0004819	99.31	gold quality
left ventricle myocardium	UBERON:0006566	99.28	gold quality
lower lobe of lung	UBERON:0008949	98.76	gold quality
tibialis anterior	UBERON:0001385	98.70	gold quality
myocardium	UBERON:0002349	98.65	gold quality
renal medulla	UBERON:0000362	98.59	gold quality
oocyte	CL:0000023	98.36	gold quality
middle temporal gyrus	UBERON:0002771	98.33	gold quality
pancreatic ductal cell	CL:0002079	98.32	gold quality
trigeminal ganglion	UBERON:0001675	98.29	gold quality
epithelial cell of pancreas	CL:0000083	98.13	gold quality
nipple	UBERON:0002030	98.13	gold quality
pigmented layer of retina	UBERON:0001782	98.08	gold quality
cardia of stomach	UBERON:0001162	98.04	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	97.97	gold quality
secondary oocyte	CL:0000655	97.92	gold quality
deltoid	UBERON:0001476	97.92	gold quality
dorsal root ganglion	UBERON:0000044	97.89	gold quality
oviduct epithelium	UBERON:0004804	97.78	gold quality
Brodmann (1909) area 23	UBERON:0013554	97.70	gold quality
adrenal tissue	UBERON:0018303	97.70	gold quality
germinal epithelium of ovary	UBERON:0001304	97.66	gold quality
seminal vesicle	UBERON:0000998	97.60	gold quality
heart right ventricle	UBERON:0002080	97.40	gold quality
caput epididymis	UBERON:0004358	97.23	gold quality
vena cava	UBERON:0004087	97.17	gold quality
epithelium of mammary gland	UBERON:0003244	97.14	gold quality
mammary duct	UBERON:0001765	97.13	gold quality
biceps brachii	UBERON:0001507	97.12	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

298 targeting TMEM245, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-548P	99.98	72.25	3784

Literature-anchored findings (GeneRIF, showing 1)

• we detected five SNPs in the first two genes/loci - BCL9 and C9orf5 - strongly associated with negative symptoms of schizophrenia (PMID:23382809)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem245	ENSDARG00000070455
danio_rerio		ENSDARG00000108060
mus_musculus	Tmem245	ENSMUSG00000055296
rattus_norvegicus	Tmem245	ENSRNOG00000026271
drosophila_melanogaster	CG2698	FBGN0037536
caenorhabditis_elegans		WBGENE00010810

Protein

Protein identifiers

Transmembrane protein 245 — Q9H330 (reviewed: Q9H330)

Alternative names: Protein CG-2

All UniProt accessions (3): Q9H330, F8WBJ7, H7C0G1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Widely expressed.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the autoinducer-2 exporter (AI-2E) (TC 2.A.86) family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H330-2	2	yes
Q9H330-3	3
Q9H330-4	4

RefSeq proteins (1): NP_114401* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002549	AI-2E-like	Family

Pfam: PF01594

UniProt features (42 total): transmembrane region 14, modified residue 10, glycosylation site 4, splice variant 4, sequence variant 3, region of interest 2, sequence conflict 2, initiator methionine 1, chain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H330-F1	69.58	0.09

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 (10): 2, 12, 16, 36, 324, 327, 330, 332, 334, 877

Glycosylation sites (4): 210, 500, 551, 575

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 206 (showing top): RRAGTTGT_UNKNOWN, HORIUCHI_WTAP_TARGETS_DN, GCM_GSPT1, AAGTCCA_MIR422B_MIR422A, AACWWCAANK_UNKNOWN, GTGCCTT_MIR506, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GCM_NUMA1, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GCM_NF2, ACEVEDO_LIVER_CANCER_UP, CHIANG_LIVER_CANCER_SUBCLASS_CTNNB1_UP, ACTWSNACTNY_UNKNOWN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP

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

606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM245	ABITRAM	Q9NX38	366
TMEM245	NHSL3	Q9P206	358
TMEM245	SRA1	Q9HD15	357
TMEM245	TMEM184A	Q6ZMB5	352
TMEM245	FAM185A	Q8N0U4	350
TMEM245	NOPCHAP1	Q8N5I9	349
TMEM245	MSANTD3	Q96H12	348
TMEM245	EIF4H	Q15056	325
TMEM245	ZNF704	Q6ZNC4	318
TMEM245	UBN2	Q6ZU65	316
TMEM245	CIMIP2B	A8MTA8	312
TMEM245	DCAF10	Q5QP82	294
TMEM245	MROH6	A6NGR9	292
TMEM245	SOWAHB	A6NEL2	290
TMEM245	BTG2	P78543	283

IntAct

47 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
ENPP6	SCAMP1	psi-mi:“MI:0914”(association)	0.640
LYPD3	SCAMP1	psi-mi:“MI:0914”(association)	0.640
SYNGAP1	IGF2BP3	psi-mi:“MI:0914”(association)	0.530
YIPF3	TMEM120B	psi-mi:“MI:0914”(association)	0.530
FAM241A	NRP1	psi-mi:“MI:0914”(association)	0.530
LYPD6	PLXNB2	psi-mi:“MI:0914”(association)	0.530
FAM241A	SPTLC2	psi-mi:“MI:0914”(association)	0.530
	ESYT2	psi-mi:“MI:0914”(association)	0.350
	NBAS	psi-mi:“MI:0914”(association)	0.350
TTMP	TMEM223	psi-mi:“MI:0914”(association)	0.350
AVPR2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CMTM5	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TNFRSF10C	SLC22A23	psi-mi:“MI:0914”(association)	0.350
EFNA4	NBAS	psi-mi:“MI:0914”(association)	0.350
C5AR1	TCAF2	psi-mi:“MI:0914”(association)	0.350
VIPR2	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
MALL	GPR89A	psi-mi:“MI:0914”(association)	0.350
LYPD3	TNPO2	psi-mi:“MI:0914”(association)	0.350
STUM	PLSCR1	psi-mi:“MI:0914”(association)	0.350
IFITM1	NCAM1	psi-mi:“MI:0914”(association)	0.350
RTP4	SDHB	psi-mi:“MI:0914”(association)	0.350
GPC1	ATP2B4	psi-mi:“MI:0914”(association)	0.350
LMAN2L	PTGS2	psi-mi:“MI:0914”(association)	0.350
NDFIP2	NEDD4	psi-mi:“MI:0914”(association)	0.350
LYPD3	NEMP1	psi-mi:“MI:0914”(association)	0.350
VIPR2	EI24	psi-mi:“MI:0914”(association)	0.350
FPR2	SCAMP3	psi-mi:“MI:0914”(association)	0.350

BioGRID (71): TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Proximity Label-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-RNA), TMEM245 (Affinity Capture-MS), TMEM245 (Affinity Capture-RNA)

ESM2 similar proteins: A0A1B0GVV1, A0M8S0, A0M8T1, A0M8U1, A3KN28, A4D7R9, A9JRA0, B1AZA5, E9Q2Z6, P01134, P48030, Q00PJ0, Q07DV5, Q07DW9, Q07DX8, Q07DY8, Q07E08, Q07E45, Q09YH4, Q09YI5, Q09YJ7, Q09YK8, Q09YN2, Q108U3, Q1RLU8, Q2IBA8, Q2IBD0, Q2IBE0, Q2IBE8, Q2PG42, Q2QL86, Q2QLA6, Q2QLB7, Q2QLD7, Q2QLE8, Q2QLG2, Q3KRC4, Q3SXP7, Q5T292, Q68FW3

Diamond homologs: B1AZA5, D3ZXD8, E1BD52, Q9H330

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	90
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3245318	NC_000009.11:g.(?111631395)(111929571_?)del	Pathogenic

SpliceAI

3578 predictions. Top by Δscore:

Variant	Effect	Δscore
9:109020503:GTCC:G	acceptor_loss	1.0000
9:109020505:CCTAA:C	acceptor_loss	1.0000
9:109020506:C:CC	acceptor_gain	1.0000
9:109020506:CTA:C	acceptor_loss	1.0000
9:109033497:CACCT:C	acceptor_gain	1.0000
9:109036203:TA:T	donor_loss	1.0000
9:109036204:A:AT	donor_loss	1.0000
9:109036204:AC:A	donor_gain	1.0000
9:109036205:CC:C	donor_gain	1.0000
9:109036376:TAATG:T	acceptor_gain	1.0000
9:109036379:TG:T	acceptor_gain	1.0000
9:109036381:C:CC	acceptor_gain	1.0000
9:109038113:CCCCT:C	acceptor_gain	1.0000
9:109038114:CCCTC:C	acceptor_gain	1.0000
9:109038128:C:CT	acceptor_gain	1.0000
9:109038128:C:T	acceptor_gain	1.0000
9:109038129:A:T	acceptor_gain	1.0000
9:109050555:T:C	donor_gain	1.0000
9:109057319:CATT:C	acceptor_gain	1.0000
9:109057321:TT:T	acceptor_gain	1.0000
9:109057323:C:CC	acceptor_gain	1.0000
9:109060347:AACTT:A	donor_loss	1.0000
9:109060348:ACTT:A	donor_loss	1.0000
9:109060349:CTTA:C	donor_loss	1.0000
9:109060350:TTAC:T	donor_loss	1.0000
9:109060351:T:TG	donor_loss	1.0000
9:109060353:C:T	donor_loss	1.0000
9:109060448:TGGAG:T	acceptor_gain	1.0000
9:109060451:AGC:A	acceptor_loss	1.0000
9:109060453:C:CC	acceptor_gain	1.0000

AlphaMissense

5631 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:109033409:C:T	C831Y	1.000
9:109033410:A:G	C831R	1.000
9:109033412:A:G	L830P	1.000
9:109033412:A:T	L830H	1.000
9:109033421:G:C	P827R	1.000
9:109033421:G:T	P827H	1.000
9:109033424:C:T	G826D	1.000
9:109033425:C:A	G826C	1.000
9:109033425:C:G	G826R	1.000
9:109033430:A:T	I824N	1.000
9:109033436:C:T	G822E	1.000
9:109033437:C:G	G822R	1.000
9:109033437:C:T	G822R	1.000
9:109033460:C:T	G814E	1.000
9:109033461:C:G	G814R	1.000
9:109033461:C:T	G814R	1.000
9:109033463:C:T	G813D	1.000
9:109033464:C:G	G813R	1.000
9:109033466:G:T	A812D	1.000
9:109033472:G:T	A810E	1.000
9:109033473:C:G	A810P	1.000
9:109033475:A:G	L809S	1.000
9:109033484:A:G	L806P	1.000
9:109050400:A:G	L669P	1.000
9:109050409:A:G	L666P	1.000
9:109080902:G:C	S462R	1.000
9:109080902:G:T	S462R	1.000
9:109080904:T:G	S462R	1.000
9:109119642:C:T	G91D	1.000
9:109119643:C:G	G91R	1.000

dbSNP variants (sampled 300 via entrez): RS1000033953 (9:109105341 A>G), RS1000040236 (9:109069200 T>A), RS1000067186 (9:109038451 C>A,T), RS1000087730 (9:109118031 G>A), RS1000107800 (9:109093202 A>G), RS1000128304 (9:109078399 C>T), RS1000135385 (9:109036989 G>A), RS1000185435 (9:109102171 T>C), RS1000188510 (9:109112339 G>A), RS1000221071 (9:109022117 G>A), RS1000237557 (9:109032198 C>T), RS1000247943 (9:109029356 G>A), RS1000264738 (9:109051107 A>G), RS1000270217 (9:109032509 C>G,T), RS1000403378 (9:109016044 A>C)

Disease associations

OMIM: gene MIM:620252 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000905_24	Information processing speed	2.000000e-06
GCST001836_1	Schizophrenia (negative symptoms)	1.000000e-06
GCST002541_76	Menarche (age at onset)	2.000000e-11
GCST004781_25	Sulfasalazine-induced agranulocytosis	7.000000e-07
GCST010796_899	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-09
GCST010796_900	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-09
GCST010796_901	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_902	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004363	information processing speed
EFO:0004703	age at menarche
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression, affects cotreatment	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	increases abundance, decreases expression	1
manganese chloride	decreases expression, increases abundance	1
coumarin	affects phosphorylation	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Acetaminophen	increases expression	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation	1
Caffeine	increases phosphorylation	1
Dexamethasone	affects cotreatment, increases expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	affects expression	1
Hydrogen Peroxide	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Manganese	decreases expression, increases abundance	1
Testosterone	decreases expression	1
Tretinoin	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Copper Sulfate	decreases expression	1
Vitamin K 3	affects 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_E0RE	Ubigene HeLa TMEM245 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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