TMEM229A

Summary

TMEM229A (transmembrane protein 229A, HGNC:37279) is a protein-coding gene on chromosome 7q31.32, encoding Transmembrane protein 229A (B2RXF0).

Predicted to be located in membrane.

Source: NCBI Gene 730130 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 59 total
• MANE Select transcript: NM_001136002

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37279
Approved symbol	TMEM229A
Name	transmembrane protein 229A
Location	7q31.32
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000234224
Ensembl biotype	protein_coding
Entrez	730130

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000455783

RefSeq mRNA: 1 — MANE Select: NM_001136002 NM_001136002

CCDS: CCDS47694

Canonical transcript exons

ENST00000455783 — 1 exons

Exon	Start	End
ENSE00001771949	124030921	124033067

Expression profiles

Bgee: expression breadth broad, 70 present calls, max score 78.58.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2954 / max 13.9163, expressed in 106 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
85991	0.1527	60
85992	0.1170	76
85990	0.0257	12

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
duodenum	UBERON:0002114	78.58	gold quality
substantia nigra	UBERON:0002038	77.18	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	76.64	gold quality
putamen	UBERON:0001874	75.76	gold quality
Brodmann (1909) area 9	UBERON:0013540	73.75	gold quality
prefrontal cortex	UBERON:0000451	73.57	gold quality
Ammon’s horn	UBERON:0001954	73.50	gold quality
primary visual cortex	UBERON:0002436	73.42	gold quality
temporal lobe	UBERON:0001871	72.96	gold quality
amygdala	UBERON:0001876	72.88	gold quality
caudate nucleus	UBERON:0001873	72.47	gold quality
frontal cortex	UBERON:0001870	71.86	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	71.26	gold quality
cerebral cortex	UBERON:0000956	71.13	gold quality
nucleus accumbens	UBERON:0001882	71.09	gold quality
hypothalamus	UBERON:0001898	70.97	gold quality
superior frontal gyrus	UBERON:0002661	70.64	gold quality
right frontal lobe	UBERON:0002810	69.57	gold quality
anterior cingulate cortex	UBERON:0009835	69.27	gold quality
brain	UBERON:0000955	68.02	gold quality
right testis	UBERON:0004534	65.28	gold quality
testis	UBERON:0000473	64.75	gold quality
left testis	UBERON:0004533	64.25	gold quality
corpus callosum	UBERON:0002336	60.03	gold quality
body of stomach	UBERON:0001161	59.52	gold quality
small intestine	UBERON:0002108	59.48	gold quality
left adrenal gland cortex	UBERON:0035825	58.96	gold quality
right adrenal gland	UBERON:0001233	58.44	gold quality
small intestine Peyer’s patch	UBERON:0003454	58.29	gold quality
fundus of stomach	UBERON:0001160	58.01	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.99

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

105 targeting TMEM229A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872

Literature-anchored findings (GeneRIF, showing 2)

• TMEM229A suppresses nonsmall cell lung cancer progression via inactivating the ERK pathway. (PMID:34184076)
• Whole-Exome Sequencing and Experimental Validation Unveil the Roles of TMEM229A Q200del Mutation in Lung Adenocarcinoma. (PMID:39188060)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem229a	ENSMUSG00000048022
rattus_norvegicus	Tmem229a	ENSRNOG00000078723

Paralogs (1): TMEM229B (ENSG00000198133)

Protein

Protein identifiers

Transmembrane protein 229A — B2RXF0 (reviewed: B2RXF0)

All UniProt accessions (1): B2RXF0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM229 family.

RefSeq proteins (1): NP_001129474* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR036963	Tat_dom_sf	Homologous_superfamily

UniProt features (11 total): transmembrane region 6, region of interest 2, chain 1, sequence conflict 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B2RXF0-F1	80.92	0.58

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 52 (showing top): DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, chr7q31, MIKKELSEN_MEF_HCP_WITH_H3K27ME3, PBRM1_TARGET_GENES, MIR153_5P, MIR5696, MIR30B_5P_MIR30C_5P, MIR30D_5P, MIR30E_5P, MIR30A_5P, MIR3671, MIR579_3P, MIR664B_3P, MIR1250_3P, MIR32_5P

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

204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM229A	OR5H6	Q8NGV6	480
TMEM229A	OR52A5	Q9H2C5	480
TMEM229A	OR10A6	Q8NH74	475
TMEM229A	KIF27	Q86VH2	451
TMEM229A	TAS2R42	Q7RTR8	403
TMEM229A	GKAP1	Q5VSY0	399
TMEM229A	TRIM48	Q8IWZ4	399
TMEM229A	LRRN3	Q9H3W5	396
TMEM229A	SIKE1	Q9BRV8	390
TMEM229A	TMEM209	Q96SK2	384
TMEM229A	ESPNL	Q6ZVH7	373
TMEM229A	TMEM98	Q9Y2Y6	367
TMEM229A	TMEM106A	Q96A25	358
TMEM229A	NDC1	Q9BTX1	348
TMEM229A	TMEM131L	A2VDJ0	326

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2A6C4, A5D7M7, A7MBM2, A9JSM3, B2RXF0, B9EJI9, E9PY61, F1SAM7, O75949, Q08E36, Q17QQ5, Q29RK8, Q2MJR0, Q2T9K0, Q3U5Q7, Q49LS1, Q49LS4, Q49LS8, Q5EBM0, Q5GH56, Q5GH59, Q5GH64, Q5GH67, Q5GH72, Q5GH73, Q5GH76, Q5SNT2, Q5T442, Q66K66, Q68FE7, Q6P6N5, Q6PB70, Q6PRD1, Q80XF7, Q80ZU9, Q8BG75, Q8BQU6, Q8CIV2, Q8IUH8, Q8N144

Diamond homologs: B2RXF0, B9EJI9, Q08CG9, Q0V9V2, Q5EA70, Q5F3L7, Q8BFQ2, Q8NBD8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	58
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

86 predictions. Top by Δscore:

Variant	Effect	Δscore
7:124032262:C:CT	acceptor_gain	0.6400
7:124032263:G:T	acceptor_gain	0.6100
7:124032254:G:C	acceptor_gain	0.6000
7:124032262:C:T	acceptor_gain	0.5400
7:124032253:CG:C	acceptor_gain	0.4800
7:124032260:T:A	donor_gain	0.4400
7:124032243:T:C	donor_gain	0.4300
7:124032242:AT:A	donor_gain	0.4100
7:124032252:CCG:C	acceptor_gain	0.4000
7:124032254:G:GC	acceptor_gain	0.4000
7:124032462:C:CT	acceptor_gain	0.3800
7:124032257:C:CT	acceptor_gain	0.3700
7:124032309:C:CA	donor_gain	0.3700
7:124032310:C:A	donor_gain	0.3700
7:124032243:T:TA	donor_gain	0.3600
7:124032258:A:C	acceptor_gain	0.3600
7:124032151:C:CT	acceptor_gain	0.3200
7:124032152:G:C	acceptor_gain	0.3200
7:124032291:AGCC:A	donor_gain	0.3200
7:124032253:C:T	acceptor_gain	0.3100
7:124032210:A:T	acceptor_gain	0.3000
7:124032294:C:CA	donor_gain	0.3000
7:124032747:AGCAT:A	donor_gain	0.3000
7:124031375:A:C	acceptor_gain	0.2900
7:124032147:C:CC	acceptor_gain	0.2900
7:124032205:GCCC:G	acceptor_gain	0.2900
7:124032206:CCCC:C	acceptor_gain	0.2900
7:124032140:A:C	donor_gain	0.2800
7:124032517:A:AC	donor_gain	0.2800
7:124032518:C:CC	donor_gain	0.2800

AlphaMissense

2427 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:124031935:A:G	W357R	0.994
7:124031935:A:T	W357R	0.994
7:124031996:C:A	W336C	0.994
7:124031996:C:G	W336C	0.994
7:124031921:A:C	S361R	0.993
7:124031921:A:T	S361R	0.993
7:124031923:T:G	S361R	0.993
7:124032140:A:C	S288R	0.993
7:124032140:A:T	S288R	0.993
7:124032142:T:G	S288R	0.993
7:124032146:G:C	S286R	0.993
7:124032146:G:T	S286R	0.993
7:124032148:T:G	S286R	0.993
7:124032046:A:G	W320R	0.992
7:124032046:A:T	W320R	0.992
7:124032240:T:A	E255V	0.991
7:124031998:A:G	W336R	0.990
7:124031998:A:T	W336R	0.990
7:124032230:G:C	F258L	0.990
7:124032230:G:T	F258L	0.990
7:124032232:A:G	F258L	0.990
7:124032169:A:G	W279R	0.989
7:124032169:A:T	W279R	0.989
7:124031972:A:C	N344K	0.988
7:124031972:A:T	N344K	0.988
7:124032129:T:A	E292V	0.987
7:124031933:C:A	W357C	0.986
7:124031933:C:G	W357C	0.986
7:124032041:C:A	E321D	0.986
7:124032041:C:G	E321D	0.986

dbSNP variants (sampled 300 via entrez): RS1000164968 (7:124030617 A>G), RS1000200121 (7:124033819 C>T), RS1000314449 (7:124034152 A>G,T), RS1000567418 (7:124034882 A>G), RS1001168925 (7:124032737 G>A), RS1001201463 (7:124032627 G>A,T), RS1001317415 (7:124032941 C>A,G,T), RS1001641526 (7:124033431 C>A,T), RS1001764585 (7:124031883 A>C,G,T), RS1002249297 (7:124031553 A>G), RS1002582136 (7:124031037 G>A), RS1003995030 (7:124031051 A>C), RS1004214312 (7:124034625 A>G), RS1004245523 (7:124034999 A>G), RS1005218433 (7:124033148 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

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

Chemical	Actions (top 5)	PubMed papers
2,4,5,2’,4’,5’-hexachlorobiphenyl	increases expression	1
ferrous chloride	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	decreases expression, increases abundance	1
Estradiol	decreases expression	1
Tretinoin	decreases expression	1
Triclosan	decreases expression	1
Aflatoxin B1	decreases methylation	1
Cadmium Chloride	increases abundance, decreases expression	1

Clinical trials (associated diseases)

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