TMEM270

Summary

TMEM270 (transmembrane protein 270, HGNC:23018) is a protein-coding gene on chromosome 7q11.23, encoding Transmembrane protein 270 (Q6UE05).

Predicted to be located in membrane.

Source: NCBI Gene 135886 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 50 total — 1 pathogenic
• Phenotypes (HPO): 186
• MANE Select transcript: NM_182504

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23018
Approved symbol	TMEM270
Name	transmembrane protein 270
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	MGC26719
Ensembl gene	ENSG00000175877
Ensembl biotype	protein_coding
OMIM	612547
Entrez	135886

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 nonsense_mediated_decay

ENST00000320531, ENST00000426490

RefSeq mRNA: 1 — MANE Select: NM_182504 NM_182504

CCDS: CCDS43597

Canonical transcript exons

ENST00000320531 — 3 exons

Exon	Start	End
ENSE00001221927	73865577	73865890
ENSE00001221934	73861159	73861266
ENSE00003586319	73864993	73865421

Expression profiles

Bgee: expression breadth broad, 64 present calls, max score 94.80.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0286 / max 26.6140, expressed in 4 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
79031	0.0286	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	94.80	gold quality
left testis	UBERON:0004533	94.73	gold quality
testis	UBERON:0000473	91.31	gold quality
sperm	CL:0000019	88.44	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.99	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	63.20	gold quality
adult organism	UBERON:0007023	62.12	gold quality
right uterine tube	UBERON:0001302	57.37	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
epithelial cell of pancreas	CL:0000083	53.55	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
cerebellar vermis	UBERON:0004720	52.64	gold quality
nasal cavity mucosa	UBERON:0001826	52.06	gold quality
pancreatic ductal cell	CL:0002079	50.96	silver quality
myocardium	UBERON:0002349	50.25	gold quality
lower lobe of lung	UBERON:0008949	50.07	silver quality
tibialis anterior	UBERON:0001385	49.08	silver quality
mucosa of transverse colon	UBERON:0004991	47.44	gold quality
deltoid	UBERON:0001476	47.26	gold quality
nasal cavity epithelium	UBERON:0005384	47.03	gold quality
quadriceps femoris	UBERON:0001377	46.47	gold quality
right lobe of liver	UBERON:0001114	46.04	silver quality
vastus lateralis	UBERON:0001379	45.47	gold quality
ileal mucosa	UBERON:0000331	45.21	silver quality
saphenous vein	UBERON:0007318	44.80	gold quality
fallopian tube	UBERON:0003889	44.15	gold quality
duodenum	UBERON:0002114	43.71	gold quality
layer of synovial tissue	UBERON:0007616	43.55	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem270	ENSMUSG00000040576
rattus_norvegicus	Tmem270	ENSRNOG00000001474

Protein

Protein identifiers

Transmembrane protein 270 — Q6UE05 (reviewed: Q6UE05)

Alternative names: Williams-Beuren syndrome chromosomal region 28 protein

All UniProt accessions (1): Q6UE05

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q6UE05-1	1	yes
Q6UE05-2	2

RefSeq proteins (1): NP_872310* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029166	WBS28	Family

Pfam: PF15164

UniProt features (12 total): sequence variant 4, transmembrane region 3, splice variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UE05-F1	66.82	0.06

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 450 (showing top): TGACCTY_ERR1_Q2, GGGTGGRR_PAX4_03, YGACNNYACAR_UNKNOWN, ATF3_Q6, chr7q11, RFX1_02, ER_Q6_02, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GSE13522_WT_VS_IFNG_KO_SKIN_UP, PAX3_TARGET_GENES, HP_RECURRENT_URINARY_TRACT_INFECTIONS, HP_ABNORMALITY_OF_THE_BLADDER, HP_BLADDER_DIVERTICULUM, HP_INGUINAL_HERNIA, HP_CRYPTORCHIDISM

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

172 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM270	TMEM225	Q6GV28	688
TMEM270	METTL27	Q8N6F8	586
TMEM270	TBL2	Q9Y4P3	582
TMEM270	TRIM50	Q86XT4	572
TMEM270	GTSF1L	Q9H1H1	572
TMEM270	GARIN1B	Q96KD3	571
TMEM270	SPATS1	Q496A3	552
TMEM270	FSCN3	Q9NQT6	532
TMEM270	SPATA3	Q8NHX4	531
TMEM270	GTF2IRD1	Q9UHL9	511
TMEM270	DNAJC30	Q96LL9	507
TMEM270	SPACA4	Q8TDM5	500
TMEM270	PGPEP1L	A6NFU8	479
TMEM270	BUD23	O43709	479
TMEM270	KIAA1217	Q5T5P2	477

IntAct

2 interactions, top by confidence:

A	B	Type	Score
TMEM270	LDAF1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (2): TMEM159 (Affinity Capture-MS), WBSCR28 (Affinity Capture-Luminescence)

ESM2 similar proteins: A0A096P2H6, A0A0D9S1R4, A0A140LIA7, A0A2Y9GDB5, E1C7U0, P06759, P08700, P0DKU6, P0DKW1, P0DKW2, P0DKW3, P0DKW4, P0DKY3, P0DML4, P0DML5, P0DML6, P0DMN8, P0DOC4, P0DP53, P0DTG9, P0DTH0, P0DTH1, P0DTH2, P0DTH3, P0DTH4, P0DUP5, P0DUP6, P24001, P55056, P55057, P55797, Q0VCT2, Q13790, Q28809, Q3SYR5, Q3ZRW9, Q5HZE8, Q5JTB6, Q5JX69, Q5M889

Diamond homologs: Q2TBQ4, Q6UE05, Q6UJB9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	41
Likely benign	6
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
563399	GRCh37/hg19 7q11.23(chr7:72576872-74175429)x3	Pathogenic

SpliceAI

562 predictions. Top by Δscore:

Variant	Effect	Δscore
7:73863892:TTCA:T	donor_gain	1.0000
7:73864991:A:AG	acceptor_gain	1.0000
7:73864991:AGTT:A	acceptor_gain	1.0000
7:73864992:G:GG	acceptor_gain	1.0000
7:73864992:GTTG:G	acceptor_gain	1.0000
7:73865077:G:GT	donor_gain	1.0000
7:73861265:TGG:T	donor_loss	0.9900
7:73861266:GGTG:G	donor_loss	0.9900
7:73861267:G:GA	donor_loss	0.9900
7:73861268:TGAG:T	donor_loss	0.9900
7:73861269:GA:G	donor_loss	0.9900
7:73864989:GCAGT:G	acceptor_loss	0.9900
7:73864990:CA:C	acceptor_loss	0.9900
7:73864991:A:C	acceptor_loss	0.9900
7:73864992:G:GT	acceptor_loss	0.9900
7:73864992:GT:G	acceptor_gain	0.9900
7:73864992:GTT:G	acceptor_gain	0.9900
7:73865101:C:T	donor_gain	0.9900
7:73865412:GCTCA:G	donor_gain	0.9900
7:73865417:G:GG	donor_gain	0.9900
7:73864991:AGTTG:A	acceptor_gain	0.9800
7:73864992:GTTGG:G	acceptor_gain	0.9800
7:73865119:G:GT	donor_gain	0.9800
7:73865571:TTCCA:T	acceptor_loss	0.9800
7:73865572:TCCA:T	acceptor_loss	0.9800
7:73865574:CA:C	acceptor_loss	0.9800
7:73865575:A:AT	acceptor_loss	0.9800
7:73861254:GCTC:G	donor_gain	0.9700
7:73861263:GCTG:G	donor_gain	0.9700
7:73865055:C:CG	donor_gain	0.9700

AlphaMissense

1662 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:73865730:T:C	F219L	0.983
7:73865732:T:A	F219L	0.983
7:73865732:T:G	F219L	0.983
7:73865037:G:C	K39N	0.949
7:73865037:G:T	K39N	0.949
7:73865691:T:A	W206R	0.941
7:73865691:T:C	W206R	0.941
7:73865731:T:G	F219C	0.941
7:73865047:T:C	F43L	0.940
7:73865049:C:A	F43L	0.940
7:73865049:C:G	F43L	0.940
7:73865716:T:C	L214P	0.926
7:73865700:T:C	C209R	0.908
7:73865731:T:C	F219S	0.889
7:73865693:G:C	W206C	0.887
7:73865693:G:T	W206C	0.887
7:73865058:G:C	W46C	0.879
7:73865058:G:T	W46C	0.879
7:73865036:A:T	K39M	0.878
7:73865048:T:C	F43S	0.870
7:73865036:A:C	K39T	0.866
7:73865719:T:C	L215P	0.865
7:73865056:T:A	W46R	0.863
7:73865056:T:C	W46R	0.863
7:73865730:T:A	F219I	0.859
7:73865727:G:C	A218P	0.857
7:73865724:G:C	A217P	0.854
7:73865702:C:G	C209W	0.853
7:73865667:T:A	W198R	0.846
7:73865667:T:C	W198R	0.846

dbSNP variants (sampled 300 via entrez): RS1000812234 (7:73863336 C>T), RS1000926661 (7:73863550 C>A), RS1001155658 (7:73864617 T>G), RS1001268503 (7:73864882 A>G), RS1003006796 (7:73860404 T>A), RS1003055724 (7:73860103 C>T), RS1003281850 (7:73865743 C>G), RS1003342001 (7:73861559 C>G), RS1003392945 (7:73861376 G>A), RS1003895345 (7:73860374 C>T), RS1005050216 (7:73859663 T>C), RS1005349994 (7:73865467 G>T), RS1005490043 (7:73861361 C>A,G,T), RS1005789875 (7:73861112 C>G), RS1007048514 (7:73862429 C>T)

Disease associations

OMIM: gene MIM:612547 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

186 total (30 of 186 shown, HPO-id order):

HPO	Term
HP:0000010	Recurrent urinary tract infections
HP:0000014	Abnormality of the bladder
HP:0000015	Bladder diverticulum
HP:0000023	Inguinal hernia
HP:0000025	Functional abnormality of male internal genitalia
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000075	Renal duplication
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000093	Proteinuria
HP:0000121	Nephrocalcinosis
HP:0000125	Pelvic kidney
HP:0000147	Polycystic ovaries
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000179	Thick lower lip vermilion
HP:0000212	Gingival overgrowth
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000275	Narrow face
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST007269_214	Pulse pressure	3.000000e-08
GCST008839_198	Height	7.000000e-29
GCST90014033_81	Haemorrhoidal disease	3.000000e-18
GCST90020028_168	Hip circumference adjusted for BMI	6.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005763	pulse pressure measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sotorasib	affects cotreatment, increases expression	1
propionaldehyde	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	decreases methylation	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Aldehydes	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases methylation	1
Methapyrilene	decreases methylation	1
Silicon Dioxide	decreases expression	1
Dihydrotestosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases expression	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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