TMEM233

Summary

TMEM233 (transmembrane protein 233, HGNC:37219) is a protein-coding gene on chromosome 12q24.23, encoding Transmembrane protein 233 (B4DJY2). Probable accessory protein of voltage-gated sodium channels.

Located in plasma membrane.

Source: NCBI Gene 387890 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_001136534

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:37219
Approved symbol	TMEM233
Name	transmembrane protein 233
Location	12q24.23
Locus type	gene with protein product
Status	Approved
Aliases	IFITMD2, DSPB2
Ensembl gene	ENSG00000224982
Ensembl biotype	protein_coding
OMIM	618296
Entrez	387890

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000426426, ENST00000453450, ENST00000971026

RefSeq mRNA: 1 — MANE Select: NM_001136534 NM_001136534

CCDS: CCDS44995

Canonical transcript exons

ENST00000426426 — 3 exons

Exon	Start	End
ENSE00001672646	119640699	119643075
ENSE00001724366	119593774	119594034
ENSE00003476344	119629736	119629872

Expression profiles

Bgee: expression breadth ubiquitous, 123 present calls, max score 98.66.

FANTOM5 (CAGE): breadth broad, TPM avg 1.2365 / max 202.8698, expressed in 345 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128300	1.1424	312
128301	0.0597	17
128299	0.0343	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
quadriceps femoris	UBERON:0001377	98.66	gold quality
gastrocnemius	UBERON:0001388	94.92	gold quality
muscle of leg	UBERON:0001383	93.02	gold quality
skeletal muscle tissue	UBERON:0001134	92.36	gold quality
hindlimb stylopod muscle	UBERON:0004252	90.08	gold quality
muscle tissue	UBERON:0002385	83.85	gold quality
cerebellar vermis	UBERON:0004720	78.38	gold quality
left lobe of thyroid gland	UBERON:0001120	78.16	gold quality
thyroid gland	UBERON:0002046	77.92	gold quality
right lobe of thyroid gland	UBERON:0001119	75.78	gold quality
thymus	UBERON:0002370	74.64	silver quality
anterior cingulate cortex	UBERON:0009835	72.45	gold quality
prefrontal cortex	UBERON:0000451	69.58	gold quality
superior frontal gyrus	UBERON:0002661	66.82	gold quality
frontal cortex	UBERON:0001870	66.27	gold quality
Brodmann (1909) area 9	UBERON:0013540	65.91	gold quality
primary visual cortex	UBERON:0002436	65.16	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	64.81	gold quality
cerebral cortex	UBERON:0000956	63.56	gold quality
right lung	UBERON:0002167	62.14	gold quality
right atrium auricular region	UBERON:0006631	62.12	gold quality
right frontal lobe	UBERON:0002810	61.05	gold quality
colonic epithelium	UBERON:0000397	60.62	silver quality
islet of Langerhans	UBERON:0000006	60.60	gold quality
smooth muscle tissue	UBERON:0001135	60.33	gold quality
temporal lobe	UBERON:0001871	59.96	gold quality
amygdala	UBERON:0001876	59.82	gold quality
upper lobe of left lung	UBERON:0008952	59.53	gold quality
heart	UBERON:0000948	59.39	gold quality
lower esophagus muscularis layer	UBERON:0035833	59.04	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	2800.04
E-ANND-3	yes	5.45
E-MTAB-7249	yes	2.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting TMEM233, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-3659	99.70	67.97	694
HSA-MIR-766-5P	99.47	67.91	2225
HSA-MIR-3911	99.38	66.95	1087
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-7158-5P	99.25	67.95	796
HSA-MIR-4254	99.11	65.15	1315
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-622	98.99	66.48	1050
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-154-5P	98.92	66.65	733
HSA-MIR-4774-3P	98.90	67.82	737
HSA-MIR-5006-5P	98.79	66.92	1246
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-5572	98.55	65.84	970

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	TMEM233	ENSDARG00000116896
mus_musculus	Tmem233	ENSMUSG00000079278
rattus_norvegicus	Tmem233	ENSRNOG00000053974

Paralogs (4): PRRT2 (ENSG00000167371), TRARG1 (ENSG00000184811), PRRT1 (ENSG00000204314), PRRT1B (ENSG00000283526)

Protein

Protein identifiers

Transmembrane protein 233 — B4DJY2 (reviewed: B4DJY2)

Alternative names: Dispanin subfamily B member 2, Interferon-induced transmembrane domain-containing protein D2

All UniProt accessions (1): B4DJY2

UniProt curated annotations — full annotation on UniProt →

Function. Probable accessory protein of voltage-gated sodium channels.

Subunit / interactions. Interacts with the giant stinging tree toxin ExTxA (AC P0DQP3). Interacts with Nav1.7/SCN9A. Interacts with Nav1.1/SCN1A, Nav1.2/SCN2A, Nav1.3/SCN3A, Nav1.4/SCN4A, Nav1.5/SCN5A, and Nav1.6/SCN8A.

Subcellular location. Cell membrane.

Similarity. Belongs to the CD225/Dispanin family.

RefSeq proteins (1): NP_001130006* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007593	CD225/Dispanin_fam	Family
IPR051423	CD225/Dispanin	Family

Pfam: PF04505

UniProt features (8 total): topological domain 3, chain 1, intramembrane region 1, transmembrane region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-B4DJY2-F1	60.11	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): chr12q24, BAHD1_TARGET_GENES, MIR153_5P, MIR579_3P, MIR664B_3P, MIR6124, MIR6507_5P, MIR765, MIR766_5P, MIR4701_5P, MIR588, MIR3944_5P, HAY_BONE_MARROW_STROMAL, DESCARTES_FETAL_ADRENAL_VASCULAR_ENDOTHELIAL_CELLS, DESCARTES_FETAL_LIVER_VASCULAR_ENDOTHELIAL_CELLS

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

370 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM233	TMEM91	Q6ZNR0	635
TMEM233	SYNDIG1L	A6NDD5	594
TMEM233	PRRT1B	A0A1B0GWB2	547
TMEM233	SYNDIG1	Q9H7V2	513
TMEM233	HEPHL1	Q6MZM0	441
TMEM233	ISL2	Q96A47	437
TMEM233	LRRC30	A6NM36	416
TMEM233	NTMT2	Q5VVY1	384
TMEM233	IFITM10	A6NMD0	376
TMEM233	HRCT1	Q6UXD1	375
TMEM233	IFITM5	A6NNB3	373
TMEM233	TMEM45B	Q96B21	371
TMEM233	PRRT2	Q7Z6L0	371
TMEM233	PRRT1	Q99946	370
TMEM233	LRRC20	Q8TCA0	360

IntAct

0 interactions, top by confidence:

BioGRID (1): TMEM233 (Synthetic Lethality)

ESM2 similar proteins: B4DJY2, D3Z1U7, D3ZEH5, D4A9I3, Q13507, Q15012, Q17QL9, Q3SZ48, Q4R4I5, Q4V888, Q5JRV8, Q5RAH0, Q5RCY9, Q5RET6, Q5U1W4, Q5U239, Q5ZMP3, Q60961, Q61143, Q69ZS6, Q6P501, Q6X893, Q7TMP6, Q86UP9, Q8BG21, Q8BHW5, Q8CIF6, Q8N4L2, Q8NA29, Q8NBJ9, Q8VHW4, Q8VHW8, Q8VII6, Q8WWI5, Q91XQ6, Q969E2, Q9BE63, Q9BX95, Q9CZX7, Q9DA37

Diamond homologs: B4DJY2, D3Z1U7, D3ZFB6, E9PUL5, Q2MHH0, Q5RAC1, Q6DFT4, Q7Z6L0, Q8C838, Q8IXB3, Q91499, Q6ZNR0, Q8C581

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

580 predictions. Top by Δscore:

Variant	Effect	Δscore
12:119629734:A:AG	acceptor_gain	1.0000
12:119629735:G:GG	acceptor_gain	1.0000
12:119629735:GT:G	acceptor_gain	1.0000
12:119629868:AGGAA:A	donor_gain	1.0000
12:119629869:GGAA:G	donor_gain	1.0000
12:119629869:GGAAG:G	donor_gain	1.0000
12:119629870:G:GT	donor_gain	1.0000
12:119629870:G:T	donor_gain	1.0000
12:119629870:GAA:G	donor_gain	1.0000
12:119629870:GAAG:G	donor_loss	1.0000
12:119629871:AA:A	donor_gain	1.0000
12:119629871:AAGT:A	donor_loss	1.0000
12:119629872:AGTA:A	donor_loss	1.0000
12:119629873:G:GG	donor_gain	1.0000
12:119629873:G:T	donor_loss	1.0000
12:119629874:T:G	donor_loss	1.0000
12:119629877:G:GG	donor_gain	1.0000
12:119594033:TG:T	donor_gain	0.9900
12:119594034:GG:G	donor_gain	0.9900
12:119594035:G:GA	donor_loss	0.9900
12:119594035:G:GG	donor_gain	0.9900
12:119594036:TGAG:T	donor_loss	0.9900
12:119594037:GAGT:G	donor_loss	0.9900
12:119610372:T:G	donor_gain	0.9900
12:119629731:CCCA:C	acceptor_loss	0.9900
12:119629731:CCCAG:C	acceptor_gain	0.9900
12:119629732:CCA:C	acceptor_loss	0.9900
12:119629732:CCAG:C	acceptor_gain	0.9900
12:119629733:CAG:C	acceptor_gain	0.9900
12:119629733:CAGTC:C	acceptor_loss	0.9900

AlphaMissense

722 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:119629826:G:C	G93R	0.999
12:119593987:T:C	C47R	0.998
12:119629827:G:A	G93D	0.998
12:119593981:T:C	C45R	0.997
12:119629793:G:C	A82P	0.997
12:119594007:C:A	N53K	0.996
12:119594007:C:G	N53K	0.996
12:119594000:C:A	P51H	0.995
12:119629805:G:C	A86P	0.995
12:119594023:T:C	F59L	0.994
12:119594025:T:A	F59L	0.994
12:119594025:T:G	F59L	0.994
12:119629784:G:T	G79W	0.994
12:119629794:C:A	A82D	0.994
12:119594000:C:G	P51R	0.993
12:119594015:C:A	A56D	0.993
12:119629812:C:A	A88D	0.993
12:119629772:G:C	A75P	0.992
12:119629779:G:C	R77P	0.992
12:119629782:T:C	L78P	0.992
12:119593983:T:G	C45W	0.991
12:119594012:T:A	V55E	0.991
12:119629736:T:C	S63P	0.991
12:119629814:T:C	S89P	0.991
12:119593982:G:A	C45Y	0.989
12:119593988:G:A	C47Y	0.989
12:119629784:G:A	G79R	0.989
12:119629784:G:C	G79R	0.989
12:119593979:C:G	S44W	0.988
12:119594009:T:A	I54N	0.988

dbSNP variants (sampled 300 via entrez): RS1000174550 (12:119610595 G>C), RS1000178563 (12:119636904 A>G), RS1000180431 (12:119610257 T>C), RS1000205886 (12:119594070 G>A,C), RS1000208897 (12:119654764 A>G), RS1000288931 (12:119629335 G>A), RS1000293710 (12:119603237 C>T), RS1000337877 (12:119648840 A>C,G), RS1000339882 (12:119616828 G>C), RS1000357671 (12:119643268 T>C), RS1000366115 (12:119619407 G>A), RS1000416348 (12:119596997 A>C), RS1000465028 (12:119592461 G>A), RS1000468978 (12:119641773 A>T), RS1000569062 (12:119592801 T>C)

Disease associations

OMIM: gene MIM:618296 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST009028_23	Adverse response to drug	8.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009658	adverse effect

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
Temozolomide	decreases expression	1
Dexamethasone	decreases expression	1
Methapyrilene	increases methylation	1

Clinical trials (associated diseases)

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