TMEM271

Summary

TMEM271 (transmembrane protein 271, HGNC:53639) is a protein-coding gene on chromosome 4p16.3, encoding Transmembrane protein 271 (A0A286YF58).

Predicted to be located in membrane.

Source: NCBI Gene 112441426 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_001362796

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53639
Approved symbol	TMEM271
Name	transmembrane protein 271
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000273238
Ensembl biotype	protein_coding
Entrez	112441426

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000610212

RefSeq mRNA: 1 — MANE Select: NM_001362796 NM_001362796

CCDS: CCDS93458

Canonical transcript exons

ENST00000610212 — 1 exons

Exon	Start	End
ENSE00003703066	573880	576295

Expression profiles

Bgee: expression breadth broad, 60 present calls, max score 86.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0855 / max 9.5365, expressed in 46 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
50988	0.0855	46

Top tissues by expression

120 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	86.61	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.19	gold quality
Ammon’s horn	UBERON:0001954	84.03	gold quality
superior frontal gyrus	UBERON:0002661	84.03	gold quality
anterior cingulate cortex	UBERON:0009835	83.70	gold quality
nucleus accumbens	UBERON:0001882	83.41	gold quality
Brodmann (1909) area 9	UBERON:0013540	82.84	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	82.81	gold quality
temporal lobe	UBERON:0001871	82.74	gold quality
amygdala	UBERON:0001876	82.65	gold quality
right frontal lobe	UBERON:0002810	81.17	gold quality
putamen	UBERON:0001874	81.13	gold quality
cortical plate	UBERON:0005343	80.54	gold quality
primary visual cortex	UBERON:0002436	80.28	gold quality
caudate nucleus	UBERON:0001873	80.08	gold quality
hypothalamus	UBERON:0001898	78.00	gold quality
brain	UBERON:0000955	74.40	gold quality
cerebral cortex	UBERON:0000956	72.80	gold quality
pituitary gland	UBERON:0000007	72.31	gold quality
adenohypophysis	UBERON:0002196	71.97	gold quality
substantia nigra	UBERON:0002038	69.35	gold quality
right hemisphere of cerebellum	UBERON:0014890	69.19	gold quality
cerebellum	UBERON:0002037	68.74	gold quality
cerebellar cortex	UBERON:0002129	68.62	gold quality
cerebellar hemisphere	UBERON:0002245	68.54	gold quality
skin of abdomen	UBERON:0001416	63.58	gold quality
ganglionic eminence	UBERON:0004023	61.89	gold quality
zone of skin	UBERON:0000014	61.70	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	61.20	gold quality
skin of leg	UBERON:0001511	60.30	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.77

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem271rt	ENSMUSG00000105867
rattus_norvegicus	Tmem271	ENSRNOG00000076968

Protein

Protein identifiers

Transmembrane protein 271 — A0A286YF58 (reviewed: A0A286YF58)

All UniProt accessions (1): A0A286YF58

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001349725* (*=MANE)

Domains & families (InterPro)

UniProt features (12 total): transmembrane region 4, compositionally biased region 4, region of interest 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A286YF58-F1	59.02	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chr4p16, DESCARTES_MAIN_FETAL_VISCERAL_NEURONS, DESCARTES_FETAL_ADRENAL_SYMPATHOBLASTS

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

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0U1RQ45, A0A0U1RQS6, A0A286YF58, A0A2R8YCJ5, A0A7I2V3R4, A2A699, A2VDX9, A6NCS6, A6NGB7, A6NJG2, A6NKF7, A6NKL6, A6NLJ0, A8MVW0, B2RU40, B7Z1M9, B8ZZ34, C9JH25, C9JVW0, D4A9R4, J3QNX5, M0QZC1, P03971, P0CG09, P0DPE3, Q0PHV7, Q0VD38, Q14761, Q29RK8, Q29RM6, Q2KJ18, Q2M3G4, Q2M3V2, Q5T442, Q64697, Q69YZ2, Q6F5E0, Q6NY19, Q6UXK2, Q80XF7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2366 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:575378:A:G	C229R	0.999
4:575388:G:C	N225K	0.999
4:575388:G:T	N225K	0.999
4:575410:A:G	L218P	0.999
4:575638:T:A	D142V	0.999
4:575661:G:C	S134R	0.999
4:575661:G:T	S134R	0.999
4:575663:T:G	S134R	0.999
4:575672:C:G	G131R	0.999
4:575672:C:T	G131R	0.999
4:575935:A:C	F43C	0.999
4:575981:C:G	G28R	0.999
4:575994:G:C	S23R	0.999
4:575994:G:T	S23R	0.999
4:575996:T:G	S23R	0.999
4:575369:C:G	G232R	0.998
4:575381:C:T	E228K	0.998
4:575395:A:T	V223D	0.998
4:575632:T:A	D144V	0.998
4:575639:C:G	D142H	0.998
4:575641:A:T	I141N	0.998
4:575650:C:T	G138D	0.998
4:575651:C:G	G138R	0.998
4:575655:G:C	F136L	0.998
4:575655:G:T	F136L	0.998
4:575657:A:G	F136L	0.998
4:575671:C:T	G131E	0.998
4:575672:C:A	G131W	0.998
4:575881:C:T	G61D	0.998
4:575882:C:G	G61R	0.998

dbSNP variants (sampled 300 via entrez): RS1000408568 (4:575988 G>A,C), RS1001013936 (4:577375 T>A), RS1001021478 (4:577230 C>A,T), RS1001026891 (4:577649 G>A), RS1001054042 (4:577502 C>T), RS1002122940 (4:577310 C>T), RS1002569441 (4:574439 G>A), RS1002688419 (4:577781 C>A,G), RS1002810213 (4:574610 A>G,T), RS1003074298 (4:573401 G>A), RS1003798830 (4:575769 G>A), RS1004137962 (4:576679 C>T), RS1004312919 (4:574080 A>C,G), RS1004532193 (4:577140 T>C,G), RS1005131549 (4:578214 G>A)

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)

CTD chemical–gene interactions

2 total (human), top 2 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
Lipopolysaccharides	decreases expression, affects cotreatment	1

Clinical trials (associated diseases)

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