TMEM273

Summary

TMEM273 (transmembrane protein 273, HGNC:27274) is a protein-coding gene on chromosome 10q11.23, encoding Transmembrane protein 273 (Q5T292).

Predicted to be located in membrane.

Source: NCBI Gene 170371 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 12 total
• MANE Select transcript: NM_001288740

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:27274
Approved symbol	TMEM273
Name	transmembrane protein 273
Location	10q11.23
Locus type	gene with protein product
Status	Approved
Aliases	Em:AC084727.5
Ensembl gene	ENSG00000204161
Ensembl biotype	protein_coding
Entrez	170371

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000374148, ENST00000374151, ENST00000374153, ENST00000374156, ENST00000453436, ENST00000470884, ENST00000474718, ENST00000488276, ENST00000707141, ENST00000884821, ENST00000952548, ENST00000952549

RefSeq mRNA: 7 — MANE Select: NM_001288740 NM_001010863, NM_001288740, NM_001288741, NM_001288742, NM_001288743, NM_001353330, NM_001353331

CCDS: CCDS41519, CCDS73128

Canonical transcript exons

ENST00000374153 — 7 exons

Exon	Start	End
ENSE00001462608	49154736	49155909
ENSE00001462610	49165205	49165283
ENSE00001462613	49166869	49167009
ENSE00003605485	49161599	49161622
ENSE00003610954	49165766	49165796
ENSE00003611419	49167909	49167962
ENSE00003998316	49188294	49188391

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 97.91.

FANTOM5 (CAGE): breadth broad, TPM avg 11.0281 / max 416.6067, expressed in 626 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
109328	6.6436	582
109326	2.3716	416
109327	2.0130	435

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.32	gold quality
apex of heart	UBERON:0002098	93.57	gold quality
spinal cord	UBERON:0002240	92.82	gold quality
palpebral conjunctiva	UBERON:0001812	92.09	gold quality
tendon	UBERON:0000043	91.44	gold quality
gall bladder	UBERON:0002110	90.66	gold quality
smooth muscle tissue	UBERON:0001135	90.53	gold quality
omental fat pad	UBERON:0010414	90.52	gold quality
subcutaneous adipose tissue	UBERON:0002190	90.45	gold quality
peritoneum	UBERON:0002358	90.45	gold quality
spleen	UBERON:0002106	90.19	gold quality
lymph node	UBERON:0000029	90.03	gold quality
adipose tissue of abdominal region	UBERON:0007808	90.03	gold quality
visceral pleura	UBERON:0002401	89.76	gold quality
ileal mucosa	UBERON:0000331	89.46	gold quality
vermiform appendix	UBERON:0001154	89.12	gold quality
granulocyte	CL:0000094	88.78	gold quality
heart left ventricle	UBERON:0002084	88.72	gold quality
left ventricle myocardium	UBERON:0006566	88.72	gold quality
cardiac ventricle	UBERON:0002082	88.36	gold quality
parietal pleura	UBERON:0002400	88.17	gold quality
adipose tissue	UBERON:0001013	88.06	gold quality
inferior vagus X ganglion	UBERON:0005363	88.00	gold quality
blood	UBERON:0000178	87.49	gold quality
small intestine Peyer’s patch	UBERON:0003454	87.31	gold quality
tendon of biceps brachii	UBERON:0008188	87.09	gold quality
lower esophagus muscularis layer	UBERON:0035833	86.97	gold quality
lower esophagus	UBERON:0013473	86.92	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	86.79	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	621.03
E-HCAD-29	yes	136.17
E-MTAB-5061	no	3.88
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

52 targeting TMEM273, 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-4673	100.00	66.64	1490
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-6875-3P	99.82	70.26	2983
HSA-MIR-609	99.82	64.26	505
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-7156-5P	99.64	68.81	1369
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-6740-3P	99.48	68.49	1392
HSA-MIR-4273	99.45	67.93	1206
HSA-MIR-133A-3P	99.27	71.53	1270
HSA-MIR-133B	99.27	71.53	1270
HSA-MIR-6878-3P	99.24	64.23	920
HSA-MIR-6739-3P	99.22	68.84	1843
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-8065	99.19	70.38	1289
HSA-MIR-4426	99.17	66.74	1949
HSA-MIR-4796-3P	99.08	68.38	1681

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem273	ENSMUSG00000041707
rattus_norvegicus	Tmem273	ENSRNOG00000042628

Protein

Protein identifiers

Transmembrane protein 273 — Q5T292 (reviewed: Q5T292)

All UniProt accessions (5): A0A0A0MRR9, A0AA34QVZ6, G3V182, Q5T292, Q5T290

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (4)

UniProt ID	Names	Canonical?
Q5T292-1	1	yes
Q5T292-2	2
Q5T292-3	3
Q5T292-4	4

RefSeq proteins (7): NP_001010863, NP_001275669, NP_001275670, NP_001275671, NP_001275672, NP_001340259, NP_001340260 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029395	DUF4514	Family

Pfam: PF14986

UniProt features (10 total): splice variant 3, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5T292-F1	62.16	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 92 (showing top): CHEN_METABOLIC_SYNDROM_NETWORK, KASLER_HDAC7_TARGETS_1_UP, STK33_SKM_DN, GUCY1B1_TARGET_GENES, LMTK3_TARGET_GENES, TFEB_TARGET_GENES, ZNF436_TARGET_GENES, ZNF589_TARGET_GENES, ZNF768_TARGET_GENES, MIR1283, MIR6875_3P, MIR6868_3P, MIR377_3P, MIR302F, MIR518C_5P

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

220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM273	VSTM4	Q8IW00	479
TMEM273	AGAP6	Q5VW22	448
TMEM273	WDR31	Q8NA23	445
TMEM273	ABHD8	Q96I13	432
TMEM273	ANKRD66	B4E2M5	423
TMEM273	ANTXRL	A6NF34	418
TMEM273	SERTAD4	Q9NUC0	401
TMEM273	FAM25A	B3EWG3	399
TMEM273	ZNF319	Q9P2F9	396
TMEM273	LDLRAD2	Q5SZI1	378
TMEM273	ASAH2B	P0C7U1	370
TMEM273	WDR86	Q86TI4	370
TMEM273	LRRC18	Q8N456	370
TMEM273	TMEM164	Q5U3C3	358
TMEM273	FRMPD2	Q68DX3	356

IntAct

0 interactions, top by confidence:

BioGRID (1): C10orf128 (Positive Genetic)

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

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1162 predictions. Top by Δscore:

Variant	Effect	Δscore
10:49166747:T:A	donor_gain	1.0000
10:49166862:C:A	donor_gain	1.0000
10:49166926:T:TA	donor_gain	1.0000
10:49188291:TACCC:T	donor_loss	1.0000
10:49188292:A:AC	donor_gain	1.0000
10:49188292:AC:A	donor_gain	1.0000
10:49188293:C:CC	donor_gain	1.0000
10:49188293:CC:C	donor_gain	1.0000
10:49166753:ACAG:A	donor_gain	0.9900
10:49166754:CAGC:C	donor_gain	0.9900
10:49166868:CCA:C	donor_gain	0.9900
10:49166888:G:A	donor_gain	0.9900
10:49167008:ATCTG:A	acceptor_loss	0.9900
10:49167009:TCTG:T	acceptor_loss	0.9900
10:49167010:C:CC	acceptor_gain	0.9900
10:49167010:CTGAA:C	acceptor_loss	0.9900
10:49167016:C:CT	acceptor_gain	0.9900
10:49167960:CAT:C	acceptor_gain	0.9900
10:49182840:T:TA	donor_gain	0.9900
10:49188292:ACC:A	donor_gain	0.9900
10:49188293:CCC:C	donor_gain	0.9900
10:49188293:CCCA:C	donor_gain	0.9900
10:49188293:CCCAG:C	donor_gain	0.9900
10:49167903:ACGTA:A	donor_loss	0.9800
10:49167907:A:AC	donor_gain	0.9800
10:49167908:C:CC	donor_gain	0.9800
10:49167963:C:CC	acceptor_gain	0.9800
10:49166756:G:GA	donor_gain	0.9700
10:49166861:T:TA	donor_gain	0.9700
10:49166923:G:A	donor_gain	0.9700

AlphaMissense

842 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:49166967:A:T	I47K	0.975
10:49166976:C:T	G44D	0.974
10:49166977:C:G	G44R	0.974
10:49166988:C:T	G40E	0.964
10:49166989:C:G	G40R	0.961
10:49166989:C:T	G40R	0.961
10:49166967:A:C	I47R	0.956
10:49166959:C:G	G50R	0.952
10:49166961:G:T	A49D	0.952
10:49166982:G:T	A42D	0.951
10:49166954:G:C	F51L	0.936
10:49166954:G:T	F51L	0.936
10:49166956:A:G	F51L	0.936
10:49166970:G:T	A46D	0.933
10:49166989:C:A	G40W	0.928
10:49166958:C:T	G50D	0.927
10:49166973:A:T	V45D	0.917
10:49166942:C:A	K55N	0.914
10:49166942:C:G	K55N	0.914
10:49166949:G:T	A53D	0.914
10:49166997:G:T	A37D	0.910
10:49166991:A:T	I39N	0.904
10:49166983:C:G	A42P	0.902
10:49166946:A:G	L54P	0.895
10:49166955:A:G	F51S	0.895
10:49166952:A:C	L52R	0.890
10:49166962:C:G	A49P	0.879
10:49166952:A:T	L52Q	0.868
10:49166979:A:T	V43E	0.866
10:49166988:C:A	G40V	0.865

dbSNP variants (sampled 300 via entrez): RS1000016746 (10:49170116 C>G), RS1000043776 (10:49184909 G>A,T), RS1000095704 (10:49165708 C>G,T), RS1000171562 (10:49186360 T>C), RS1000230175 (10:49176968 C>G), RS1000242212 (10:49161204 C>A), RS1000274456 (10:49188354 G>A), RS1000363196 (10:49189239 C>T), RS1000399763 (10:49182164 G>A), RS1000436770 (10:49188937 G>A,C), RS1000477178 (10:49156028 G>A,T), RS1000485468 (10:49173332 C>T), RS1000644593 (10:49183642 A>T), RS1000674481 (10:49178385 G>A), RS1000922155 (10:49168655 T>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

4 associations (top):

Study	Trait	p-value
GCST005982_5	Calcium levels	1.000000e-08
GCST007673_13	3-month functional outcome in ischaemic stroke (modified Rankin score)	3.000000e-06
GCST010703_114	Brain morphology (MOSTest)	8.000000e-19
GCST90002401_210	Platelet distribution width	1.000000e-12

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004838	calcium measurement
EFO:0009603	stroke outcome severity measurement
EFO:0004346	neuroimaging measurement
EFO:0007984	platelet component distribution width

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, decreases reaction	1
clothianidin	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation	1
Doxorubicin	decreases expression	1
Lipopolysaccharides	decreases expression, decreases reaction	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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