TMEM275

Summary

TMEM275 (transmembrane protein 275, HGNC:53938) is a protein-coding gene on chromosome 1p33, encoding Transmembrane protein 275 (A0A0U1RQS6).

Predicted to be located in membrane.

Source: NCBI Gene 105378696 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001396071

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53938
Approved symbol	TMEM275
Name	transmembrane protein 275
Location	1p33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000282881
Ensembl biotype	protein_coding
Entrez	105378696

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000634804, ENST00000697682, ENST00000883772, ENST00000954733, ENST00000954734, ENST00000954735, ENST00000954736, ENST00000954737

RefSeq mRNA: 2 — MANE Select: NM_001396071 NM_001357063, NM_001396071

CCDS: CCDS85971

Canonical transcript exons

ENST00000697682 — 4 exons

Exon	Start	End
ENSE00003971412	46534455	46534583
ENSE00003971413	46532166	46533650
ENSE00003971414	46535111	46535515
ENSE00003971415	46533939	46534041

Expression profiles

Bgee: expression breadth broad, 28 present calls, max score 89.80.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0085 / max 9.4728, expressed in 3 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
12182	0.0085	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.80	gold quality
hypothalamus	UBERON:0001898	60.17	gold quality
temporal lobe	UBERON:0001871	58.59	gold quality
amygdala	UBERON:0001876	58.44	gold quality
primary visual cortex	UBERON:0002436	56.86	gold quality
anterior cingulate cortex	UBERON:0009835	54.47	gold quality
superior frontal gyrus	UBERON:0002661	51.31	gold quality
Brodmann (1909) area 9	UBERON:0013540	51.27	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	49.46	gold quality
cerebral cortex	UBERON:0000956	48.82	gold quality
prefrontal cortex	UBERON:0000451	48.25	gold quality
Ammon’s horn	UBERON:0001954	48.00	gold quality
frontal cortex	UBERON:0001870	47.14	gold quality
nucleus accumbens	UBERON:0001882	47.02	gold quality
right frontal lobe	UBERON:0002810	44.59	gold quality
brain	UBERON:0000955	41.46	gold quality
substantia nigra	UBERON:0002038	40.95	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
caudate nucleus	UBERON:0001873	35.82	gold quality
putamen	UBERON:0001874	35.80	silver quality
C1 segment of cervical spinal cord	UBERON:0006469	35.75	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
granulocyte	CL:0000094	35.46	gold quality
right testis	UBERON:0004534	33.77	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
testis	UBERON:0000473	31.85	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.44

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem275a	ENSDARG00000104930
danio_rerio	tmem275b	ENSDARG00000105475
mus_musculus	Tmem275	ENSMUSG00000034185
rattus_norvegicus	Tmem275	ENSRNOG00000066278

Protein

Protein identifiers

Transmembrane protein 275 — A0A0U1RQS6 (reviewed: A0A0U1RQS6)

All UniProt accessions (1): A0A0U1RQS6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (2): NP_001343992, NP_001383000* (*=MANE)

Domains & families (InterPro)

UniProt features (4 total): transmembrane region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A0U1RQS6-F1	57.59	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): ZNF320_TARGET_GENES, chr1p33

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

4 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM275	SAMD1	Q6SPF0	0
TMEM275	SHISA8	B8ZZ34	0

IntAct

0 interactions, top by confidence:

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: A0A0U1RQ45, A0A0U1RQS6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

279 predictions. Top by Δscore:

Variant	Effect	Δscore
1:46533382:G:A	donor_gain	0.8600
1:46533281:A:T	donor_gain	0.8100
1:46533288:G:C	donor_gain	0.8100
1:46533559:C:CA	donor_gain	0.8000
1:46533160:T:TA	donor_gain	0.7800
1:46533562:T:TA	donor_gain	0.7700
1:46533283:A:AC	donor_gain	0.7600
1:46533284:C:CC	donor_gain	0.7600
1:46533143:G:C	donor_gain	0.7500
1:46533284:CGCAG:C	donor_gain	0.7500
1:46533419:G:T	donor_gain	0.7400
1:46533284:CG:C	donor_gain	0.7200
1:46533422:C:CT	donor_gain	0.7100
1:46533277:C:CT	donor_gain	0.6900
1:46533278:T:TT	donor_gain	0.6900
1:46533336:G:GT	donor_gain	0.6800
1:46533374:AGGCG:A	donor_gain	0.6800
1:46533313:A:AC	donor_gain	0.6700
1:46532558:C:CA	donor_gain	0.6400
1:46533282:C:T	donor_gain	0.6400
1:46533607:CG:C	donor_gain	0.6400
1:46533285:G:C	donor_gain	0.6300
1:46533601:T:TA	donor_gain	0.6300
1:46533478:T:A	donor_gain	0.6100
1:46532199:C:CC	acceptor_gain	0.6000
1:46532450:A:C	acceptor_gain	0.6000
1:46532578:A:AC	donor_gain	0.6000
1:46532579:C:CC	donor_gain	0.6000
1:46532600:AGCC:A	donor_gain	0.6000
1:46533319:A:T	donor_gain	0.6000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000195018 (1:46535927 A>G), RS1000333232 (1:46533070 G>A,T), RS1000533881 (1:46534234 G>A), RS1000788917 (1:46533256 C>A,G,T), RS1002041378 (1:46534770 G>A), RS1002105925 (1:46536279 C>T), RS1002107447 (1:46535101 G>A), RS1003232625 (1:46535214 T>TG), RS1003453544 (1:46535468 T>C), RS1004004122 (1:46535526 A>G,T), RS1004227076 (1:46535197 A>G), RS1004511593 (1:46532600 A>G), RS1004561242 (1:46533541 C>T), RS1005182068 (1:46535497 G>A), RS1005229182 (1:46536623 A>G)

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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

Clinical trials (associated diseases)

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