TMEM272

Summary

TMEM272 (transmembrane protein 272, HGNC:26737) is a protein-coding gene on chromosome 13q14.3, encoding Transmembrane protein 272 (A0A1B0GTI8).

Predicted to be located in membrane.

Source: NCBI Gene 283521 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_001351003

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26737
Approved symbol	TMEM272
Name	transmembrane protein 272
Location	13q14.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ37307
Ensembl gene	ENSG00000281106
Ensembl biotype	protein_coding
Entrez	283521

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000626362, ENST00000627246, ENST00000629372

RefSeq mRNA: 3 — MANE Select: NM_001351003 NM_001351003, NM_001351005, NM_001351006

CCDS: CCDS86353

Canonical transcript exons

ENST00000629372 — 5 exons

Exon	Start	End
ENSE00003764317	51845016	51845177
ENSE00003764418	51838473	51838553
ENSE00003765931	51822055	51822137
ENSE00003772215	51813347	51817113
ENSE00003772926	51826566	51826625

Expression profiles

Bgee: expression breadth broad, 95 present calls, max score 80.40.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2742 / max 55.8870, expressed in 54 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
137392	0.1515	41
137391	0.1227	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
nucleus accumbens	UBERON:0001882	80.40	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	75.57	silver quality
putamen	UBERON:0001874	73.66	gold quality
caudate nucleus	UBERON:0001873	72.74	gold quality
blood	UBERON:0000178	70.33	gold quality
amygdala	UBERON:0001876	64.10	gold quality
right atrium auricular region	UBERON:0006631	62.25	gold quality
cardiac atrium	UBERON:0002081	61.69	gold quality
granulocyte	CL:0000094	61.47	gold quality
vermiform appendix	UBERON:0001154	61.24	gold quality
cortical plate	UBERON:0005343	60.18	gold quality
anterior cingulate cortex	UBERON:0009835	59.45	gold quality
apex of heart	UBERON:0002098	59.05	gold quality
prefrontal cortex	UBERON:0000451	57.88	gold quality
forebrain	UBERON:0001890	57.77	gold quality
cerebellar cortex	UBERON:0002129	57.75	gold quality
cerebellar hemisphere	UBERON:0002245	57.67	gold quality
right hemisphere of cerebellum	UBERON:0014890	57.24	gold quality
hindlimb stylopod muscle	UBERON:0004252	56.89	gold quality
brain	UBERON:0000955	56.85	gold quality
caecum	UBERON:0001153	56.64	gold quality
lymph node	UBERON:0000029	56.59	gold quality
cerebellum	UBERON:0002037	56.52	gold quality
temporal lobe	UBERON:0001871	56.43	gold quality
right frontal lobe	UBERON:0002810	55.96	gold quality
hypothalamus	UBERON:0001898	55.70	gold quality
neocortex	UBERON:0001950	54.98	gold quality
Brodmann (1909) area 9	UBERON:0013540	54.78	gold quality
frontal cortex	UBERON:0001870	54.13	gold quality
Ammon’s horn	UBERON:0001954	53.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.25

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Transmembrane protein 272 — A0A1B0GTI8 (reviewed: A0A1B0GTI8)

All UniProt accessions (3): A0A1B0GTI8, A0A5H1ZRT5, A0A5H1ZRT8

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
A0A1B0GTI8-1	1	yes
A0A1B0GTI8-2	2

RefSeq proteins (3): NP_001337932, NP_001337934, NP_001337935 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR040350	TMEM272	Family

UniProt features (6 total): transmembrane region 4, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GTI8-F1	82.55	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 17 (showing top): chr13q14, GSE11057_NAIVE_VS_EFF_MEMORY_CD4_TCELL_UP, GSE11057_NAIVE_VS_CENT_MEMORY_CD4_TCELL_UP, GSE11057_NAIVE_CD4_VS_PBMC_CD4_TCELL_UP, GSE11057_EFF_MEM_VS_CENT_MEM_CD4_TCELL_DN, GSE11057_NAIVE_VS_MEMORY_CD4_TCELL_UP, ZBED5_TARGET_GENES, NOTCH3_TARGET_GENES, HOWARD_NEUTROPHIL_INACT_MONOV_INFLUENZA_A_INDONESIA_05_2005_H5N1_AGE_18_49YO_1DY_UP, GSE26495_NAIVE_VS_PD1HIGH_CD8_TCELL_UP, GSE26495_NAIVE_VS_PD1LOW_CD8_TCELL_UP, GSE37416_0H_VS_6H_F_TULARENSIS_LVS_NEUTROPHIL_UP, GSE37416_0H_VS_24H_F_TULARENSIS_LVS_NEUTROPHIL_UP, GSE37416_0H_VS_48H_F_TULARENSIS_LVS_NEUTROPHIL_UP, GSE21670_IL6_VS_TGFB_AND_IL6_TREATED_CD4_TCELL_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

454 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM272	BAIAP2L2	Q6UXY1	520
TMEM272	ASB9	Q96DX5	482
TMEM272	NTM	Q9P121	440
TMEM272	C7	P10643	420
TMEM272	BCO1	Q9HAY6	393
TMEM272	ACTC1	P04270	261
TMEM272	MYLK	Q15746	260
TMEM272	FLNC	Q14315	242
TMEM272	FLNA	P21333	208
TMEM272	FANCM	Q8IYD8	120
TMEM272	NHP2	Q9NX24	116
TMEM272	SDAD1	Q9NVU7	116
TMEM272	NLE1	Q9NVX2	116
TMEM272	APAF1	O14727	115
TMEM272	TEP1	Q99973	112

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTI8, A6NN92, E9Q9H8, F6RWY9, O18968, O64761, O70610, O75712, O93533, O95377, O95452, P08033, P08034, P08983, P25305, P28230, P28231, P28232, P28233, P36380, P49111, P51916, P70689, P79826, Q02738, Q02739, Q0IIL2, Q13571, Q2KJA5, Q3SZ36, Q3T110, Q3TUD9, Q49LS6, Q4VV71, Q58D78, Q5E9Z5, Q5F410, Q5JW98, Q5REZ0, Q60HF7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	0
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1212 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:51816979:G:C	S112R	0.988
13:51816979:G:T	S112R	0.988
13:51816981:T:G	S112R	0.988
13:51816835:A:C	S160R	0.984
13:51816835:A:T	S160R	0.984
13:51816837:T:G	S160R	0.984
13:51816963:A:G	W118R	0.984
13:51816963:A:T	W118R	0.984
13:51822098:A:G	I53T	0.981
13:51816946:G:C	N123K	0.978
13:51816946:G:T	N123K	0.978
13:51816951:C:G	G122R	0.978
13:51816951:C:T	G122R	0.978
13:51816950:C:T	G122E	0.974
13:51822086:A:G	L57S	0.970
13:51822137:C:T	G40E	0.967
13:51816958:G:C	F119L	0.965
13:51816958:G:T	F119L	0.965
13:51816960:A:G	F119L	0.965
13:51822075:C:G	G61R	0.965
13:51822074:C:T	G61D	0.962
13:51822098:A:C	I53S	0.962
13:51816859:A:C	F152L	0.961
13:51816859:A:T	F152L	0.961
13:51816861:A:G	F152L	0.961
13:51816913:A:C	F134L	0.959
13:51816913:A:T	F134L	0.959
13:51816915:A:G	F134L	0.959
13:51822098:A:T	I53N	0.959
13:51822116:C:G	C47S	0.959

dbSNP variants (sampled 300 via entrez): RS1000001264 (13:51856992 T>C), RS1000003540 (13:51863693 ACACACACACACACAC>A), RS1000006607 (13:51820652 G>A,C), RS1000050465 (13:51835330 T>A), RS1000115867 (13:51891868 G>A,T), RS1000125818 (13:51822601 G>T), RS1000142350 (13:51839194 T>C), RS1000146394 (13:51911509 A>G), RS1000158907 (13:51928306 A>G), RS1000200263 (13:51888189 G>A), RS1000213776 (13:51888448 C>A,T), RS1000218281 (13:51887080 C>T), RS1000248484 (13:51869298 T>G), RS1000254830 (13:51868889 C>T), RS1000272092 (13:51887337 A>G)

Disease associations

OMIM: gene `` | disease phenotypes: MIM:277900

GenCC curated gene-disease

Mondo (1): Wilson disease (MONDO:0010200)

Orphanet (1): Wilson disease (Orphanet:905)

HPO phenotypes

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

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D006527	Hepatolenticular Degeneration	C06.552.413; C10.228.140.079.493; C10.228.140.163.100.360; C10.228.662.400; C10.574.500.487; C16.320.400.361; C16.320.565.189.360; C16.320.565.618.403; C18.452.132.100.360; C18.452.648.189.360; C18.452.648.618.403

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects cotreatment, increases methylation	1
perfluorooctanoic acid	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
perfluoro-n-nonanoic acid	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	increases methylation	1
Tretinoin	decreases expression	1
Triclosan	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00004338	PHASE4	COMPLETED	Study of Zinc for Wilson Disease
NCT02426905	PHASE4	UNKNOWN	Study to Assess Long-Term Outcomes of Trientine in Wilson Disease Patients Withdrawn From Therapy With d-Penicillamine
NCT05305872	PHASE4	UNKNOWN	Gandouling in the Treatment of Wilson’s Disease
NCT00004339	PHASE3	COMPLETED	Study of Tetrathiomolybdate in Patients With Wilson Disease
NCT00212355	PHASE3	COMPLETED	Efficacy and Safety, Long-term Study of Zinc Acetate to Treat Wilson’s Disease in Japan.
NCT03403205	PHASE3	TERMINATED	Efficacy and Safety of ALXN1840 Administered for 48 Weeks Versus Standard of Care in Participants With Wilson Disease
NCT03539952	PHASE3	COMPLETED	Trientine Tetrahydrochloride (TETA 4HCL) for the Treatment of Wilson’s Disease
NCT05047523	PHASE3	TERMINATED	Study of ALXN1840 Versus Standard of Care in Pediatric Participants With Wilson Disease
NCT07465718	PHASE3	NOT_YET_RECRUITING	Trientine Tetrahydrochloride Administered Once a Day for the First Line Treatment of Wilson’s Disease Patients.
NCT02273596	PHASE2	COMPLETED	Efficacy and Safety Study of WTX101 (ALXN1840) in Adult Wilson Disease Patients
NCT04422431	PHASE2	COMPLETED	Copper Concentration & Histopathologic Changes in Liver Biopsy in Participants With Wilson Disease Treated With ALXN1840
NCT04573309	PHASE2	COMPLETED	Copper and Molybdenum Balance in Participants With Wilson Disease Treated With ALXN1840
NCT07010575	PHASE2	COMPLETED	Patient Preference Study: Standard of Care Versus Once-daily Trientine Tetrahydrochloride
NCT01874028	PHASE1	COMPLETED	A Phase 1 Study to Assess the Effects in the Body of a Single Dose of Trientine Dihydrochloride in Wilson’s Disease Patients
NCT04526197	PHASE1	COMPLETED	Phase 1 Study of ALXN1840 on the Metabolism of a CYP2C9 Substrate in Healthy Participants.
NCT04526210	PHASE1	COMPLETED	Study of ALXN1840 on the Metabolism of a CYP2B6 Substrate in Healthy Participants
NCT05641311	PHASE1	COMPLETED	Pharmacokinetic Study of Oral ALXN1840 in Japanese and Non-Japanese Adult Healthy Participants
NCT06128954	PHASE1	COMPLETED	Study Comparing Once Daily Dose of 900mg of TETA 4HCL Against Cuprior® (450mg Trientine Base, Twice Daily).
NCT04537377	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase I/II Study of VTX-801 in Adult Patients With Wilson’s Disease
NCT04884815	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Phase 1/2/3 Study of UX701 Gene Therapy in Adults With Wilson Disease
NCT07173933	PHASE1/PHASE2	NOT_YET_RECRUITING	Phase I/II Clinical Study to Evaluate the Safety, Tolerability, and Efficacy of GC310 Injection in Patients With Wilson’s Disease (WD)
NCT03957720	EARLY_PHASE1	UNKNOWN	The Individual Therapy for Patients With Wilson’s Disease
NCT06650319	EARLY_PHASE1	RECRUITING	A Clinical Study to Evaluate the Safety and Efficacy of LY-M003 Injection in Patients With Wilson Disease
NCT01378182	Not specified	COMPLETED	Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson Cirrhosis
NCT01472874	Not specified	COMPLETED	Single Daily Dosage of Trientine for Maintenance Treatment for Wilson Disease
NCT01980433	Not specified	COMPLETED	Inhibitory rTMS in Dystonic Wilson Patients
NCT02252380	Not specified	ACTIVE_NOT_RECRUITING	ExAblate Transcranial MRgFUS for the Management of Treatment-Refractory Movement Disorders
NCT02552628	Not specified	COMPLETED	WILSTIM - DBS (WILson STIMulation - Deep Brain Stimulation)
NCT02763215	Not specified	COMPLETED	The Assessment of Copper Parameters in Wilson Disease Participants on Standard of Care Treatment
NCT03334292	Not specified	RECRUITING	Natural History of Wilson Disease
NCT03589820	Not specified	UNKNOWN	Plasma Exchange and Continuous Hemodiafiltration in Treatment of Wilson’s Disease-related Liver Failure
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns
NCT03659331	Not specified	UNKNOWN	A Controlled Study of Potential Therapeutic Effect of Oral Zinc in Manifesting Carriers of Wilson Disease
NCT03867526	Not specified	COMPLETED	Establishment of Human Cellular Disease Models for Wilson Disease
NCT04012658	Not specified	RECRUITING	A Registered Cohort Study on Wilson’s Disease
NCT04212195	Not specified	UNKNOWN	Cohort Research on Wilson’s Disease
NCT04408300	Not specified	COMPLETED	Study of Retinal Vascular Parameters in Patients With Wilson’s Disease
NCT04531189	Not specified	COMPLETED	Clinical Evaluation and Assessment of Instruments and Biomarkers in Subjects With Wilson Disease
NCT04909346	Not specified	TERMINATED	Adeno-Associated Virus (AAV) Antibody Study in Subjects OTC Deficiency, GSDIa, and Wilson Disease
NCT04910581	Not specified	COMPLETED	rTMS in Wilson Disease Dysarthria