TMEM269

Summary

TMEM269 (transmembrane protein 269, HGNC:52381) is a protein-coding gene on chromosome 1p34.2, encoding Transmembrane protein 269 (A0A1B0GVZ9).

Predicted to be located in membrane.

Source: NCBI Gene 100129924 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_001354602

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52381
Approved symbol	TMEM269
Name	transmembrane protein 269
Location	1p34.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000274386
Ensembl biotype	protein_coding
Entrez	100129924

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000421630, ENST00000536543, ENST00000605272, ENST00000637012

RefSeq mRNA: 1 — MANE Select: NM_001354602 NM_001354602

CCDS: CCDS90932

Canonical transcript exons

ENST00000637012 — 6 exons

Exon	Start	End
ENSE00003498631	42793601	42793744
ENSE00003510152	42792805	42792902
ENSE00003792237	42794413	42794613
ENSE00003792421	42789796	42789934
ENSE00003793972	42798098	42800827
ENSE00003795335	42784991	42785082

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 79.67.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
thymus	UBERON:0002370	79.67	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.02	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	70.37	silver quality
quadriceps femoris	UBERON:0001377	64.14	gold quality
cortical plate	UBERON:0005343	63.65	gold quality
ganglionic eminence	UBERON:0004023	63.25	gold quality
calcaneal tendon	UBERON:0003701	63.17	gold quality
cerebellar vermis	UBERON:0004720	63.05	gold quality
testis	UBERON:0000473	62.42	gold quality
right testis	UBERON:0004534	62.29	gold quality
cerebellar hemisphere	UBERON:0002245	62.19	gold quality
cerebellar cortex	UBERON:0002129	62.16	gold quality
cerebellum	UBERON:0002037	62.14	gold quality
left testis	UBERON:0004533	61.86	gold quality
right hemisphere of cerebellum	UBERON:0014890	61.29	gold quality
monocyte	CL:0000576	61.19	gold quality
skin of leg	UBERON:0001511	60.86	gold quality
leukocyte	CL:0000738	60.81	gold quality
adrenal tissue	UBERON:0018303	60.06	gold quality
zone of skin	UBERON:0000014	59.72	gold quality
granulocyte	CL:0000094	59.55	gold quality
muscle of leg	UBERON:0001383	59.31	gold quality
popliteal artery	UBERON:0002250	59.22	gold quality
tibial artery	UBERON:0007610	59.21	gold quality
stromal cell of endometrium	CL:0002255	59.13	gold quality
mucosa of stomach	UBERON:0001199	59.13	gold quality
gastrocnemius	UBERON:0001388	58.99	gold quality
subcutaneous adipose tissue	UBERON:0002190	58.93	gold quality
skin of abdomen	UBERON:0001416	58.35	gold quality
left uterine tube	UBERON:0001303	57.97	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	1792.75
E-ANND-3	no	4.25

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Transmembrane protein 269 — A0A1B0GVZ9 (reviewed: A0A1B0GVZ9)

All UniProt accessions (1): A0A1B0GVZ9

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001341531* (*=MANE)

Domains & families (InterPro)

UniProt features (4 total): transmembrane region 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GVZ9-F1	82.45	0.39

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 16 (showing top): chr1p34, H1_6_TARGET_GENES, GSE27786_NKTCELL_VS_MONO_MAC_DN, GSE2770_IL12_AND_TGFB_VS_IL4_TREATED_ACT_CD4_TCELL_6H_DN, GSE8835_HEALTHY_VS_CLL_CD4_TCELL_DN, GSE8921_UNSTIM_0H_VS_TLR1_2_STIM_MONOCYTE_3H_DN, GSE4811_CLASSSICALY_ACTIVATED_VS_TYPE_2_ACTIVATED_MACROPHAGE_DN, GSE5455_HEALTHY_VS_TUMOR_BEARING_MOUSE_SPLEEN_MONOCYTE_24H_INCUBATION_UP, GSE3203_UNTREATED_VS_IFNB_TREATED_LN_BCELL_UP, GSE8621_LPS_STIM_VS_LPS_PRIMED_AND_LPS_STIM_MACROPHAGE_UP, GSE19888_ADENOSINE_A3R_INH_VS_INH_PRETREAT_AND_ACT_WITH_TCELL_MEMBRANES_MAST_CELL_DN, GSE21546_WT_VS_SAP1A_KO_AND_ELK1_KO_DP_THYMOCYTES_DN, GSE24210_IL35_TREATED_VS_RESTING_TREG_DN, GSE36078_WT_VS_IL1R_KO_LUNG_DC_AFTER_AD5_T425A_HEXON_INF_DN, GSE11961_PLASMA_CELL_DAY7_VS_GERMINAL_CENTER_BCELL_DAY40_DN

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

86 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM269	ANKRD36	A6QL64	652
TMEM269	CDS2	O95674	507
TMEM269	CFAP144	A6NL82	447
TMEM269	TAMM41	Q96BW9	431
TMEM269	MOGAT2	Q3SYC2	415
TMEM269	PLA2G3	Q9NZ20	398
TMEM269	PLA2G12A	Q9BZM1	396
TMEM269	CEPT1	Q9Y6K0	395
TMEM269	PCYT2	Q99447	393
TMEM269	AGPAT3	Q9NRZ7	358
TMEM269	AGPAT1	Q99943	349
TMEM269	SELENOI	Q9C0D9	348
TMEM269	C1orf185	Q5T7R7	347
TMEM269	GPAT3	Q53EU6	323
TMEM269	CDIPT	O14735	321
TMEM269	PCYT1A	P49585	321

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GVZ9, A4IFN5, A5PK40, A6NH52, A6NI61, B2LYG4, B2RZC9, B6ID01, D2HKB0, D3ZG27, P86229, Q0VDI3, Q15012, Q15546, Q17QJ2, Q1RLT2, Q2TA01, Q4R4I5, Q4R6E8, Q5H8A4, Q5R7Q1, Q5RAH0, Q5RL79, Q5U3C3, Q5VTY9, Q5ZML7, Q64232, Q6PHN7, Q6QRN8, Q719N3, Q71SV0, Q8BWB6, Q8IY49, Q8N6M3, Q8NFT2, Q8R189, Q8VD53, Q8VDI9, Q8VDR5, Q9CQC4

Diamond homologs: A0A1B0GVZ9, Q9D4Y8

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	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

111 predictions. Top by Δscore:

Variant	Effect	Δscore
1:42816430:CCT:C	donor_gain	1.0000
1:42807496:TAGAT:T	acceptor_gain	0.9900
1:42807498:GAT:G	acceptor_gain	0.9900
1:42807500:TCT:T	acceptor_loss	0.9900
1:42807501:CT:C	acceptor_loss	0.9900
1:42807502:T:A	acceptor_loss	0.9900
1:42816425:TCTCA:T	donor_loss	0.9900
1:42816426:CTCA:C	donor_loss	0.9900
1:42816427:TCA:T	donor_loss	0.9900
1:42816428:CACC:C	donor_loss	0.9900
1:42816429:A:AG	donor_loss	0.9900
1:42816430:CC:C	donor_loss	0.9900
1:42807501:C:CC	acceptor_gain	0.9800
1:42807497:AGAT:A	acceptor_gain	0.9600
1:42807499:ATCTG:A	acceptor_gain	0.9400
1:42816429:A:AC	donor_gain	0.9400
1:42816430:C:CC	donor_gain	0.9400
1:42807498:GATCT:G	acceptor_gain	0.9300
1:42807505:A:AC	acceptor_gain	0.9200
1:42807499:AT:A	acceptor_gain	0.9100
1:42807497:AGATC:A	acceptor_gain	0.9000
1:42807500:TCTGA:T	acceptor_gain	0.9000
1:42816424:ATCTC:A	donor_loss	0.8800
1:42807502:T:G	acceptor_gain	0.8600
1:42807501:C:A	acceptor_gain	0.8500
1:42807505:A:C	acceptor_gain	0.8300
1:42816323:G:A	donor_gain	0.7600
1:42816529:G:C	donor_gain	0.7200
1:42816431:C:G	donor_loss	0.7000
1:42816318:AT:A	donor_gain	0.6700

AlphaMissense

1323 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:42792839:A:C	S68R	0.959
1:42792841:C:A	S68R	0.959
1:42792841:C:G	S68R	0.959
1:42793636:T:C	F101L	0.958
1:42793638:C:A	F101L	0.958
1:42793638:C:G	F101L	0.958
1:42792842:T:C	F69L	0.907
1:42792844:C:A	F69L	0.907
1:42792844:C:G	F69L	0.907
1:42793627:T:C	F98L	0.907
1:42793629:C:A	F98L	0.907
1:42793629:C:G	F98L	0.907
1:42798154:T:A	W223R	0.906
1:42798154:T:C	W223R	0.906
1:42794535:T:C	F178L	0.873
1:42794537:C:A	F178L	0.873
1:42794537:C:G	F178L	0.873
1:42794594:A:C	K197N	0.872
1:42794594:A:T	K197N	0.872
1:42794593:A:T	K197I	0.864
1:42794457:T:C	C152R	0.828
1:42789903:G:A	G46R	0.825
1:42789903:G:C	G46R	0.825
1:42798192:G:C	W235C	0.819
1:42798192:G:T	W235C	0.819
1:42794593:A:C	K197T	0.817
1:42793640:G:A	G102D	0.810
1:42789924:A:C	S53R	0.808
1:42789926:C:A	S53R	0.808
1:42789926:C:G	S53R	0.808

dbSNP variants (sampled 300 via entrez): RS1000004504 (1:42791498 T>G), RS1000071057 (1:42793888 G>A), RS1000260002 (1:42786555 C>T), RS1000418913 (1:42786627 G>A,T), RS1000603854 (1:42793358 A>G), RS1000775658 (1:42800923 A>C,G), RS1001320191 (1:42801124 G>A), RS1001865674 (1:42787767 A>G), RS1001965753 (1:42787019 A>G), RS1003050387 (1:42795791 T>G), RS1003074603 (1:42795967 G>A), RS1003167404 (1:42795478 A>G), RS1003388740 (1:42790287 C>T), RS1003938026 (1:42793305 G>GA), RS1004347539 (1:42785785 C>T)

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

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

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Acrylamide	increases expression	1

Clinical trials (associated diseases)

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