TMEM255B

Summary

TMEM255B (transmembrane protein 255B, HGNC:28297) is a protein-coding gene on chromosome 13q34, encoding Transmembrane protein 255B (Q8WV15).

Predicted to be located in membrane.

Source: NCBI Gene 348013 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 78 total
• MANE Select transcript: NM_182614

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28297
Approved symbol	TMEM255B
Name	transmembrane protein 255B
Location	13q34
Locus type	gene with protein product
Status	Approved
Aliases	MGC20579
Ensembl gene	ENSG00000184497
Ensembl biotype	protein_coding
Entrez	348013

Gene structure

Transcript identifiers

Ensembl transcripts: 22 — 18 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000375348, ENST00000375353, ENST00000467169, ENST00000483678, ENST00000488362, ENST00000498692, ENST00000870220, ENST00000870221, ENST00000870222, ENST00000870223, ENST00000870224, ENST00000870225, ENST00000870226, ENST00000870227, ENST00000870228, ENST00000926111, ENST00000926112, ENST00000952361, ENST00000952362, ENST00000952363, ENST00000952364, ENST00000952365

RefSeq mRNA: 2 — MANE Select: NM_182614 NM_001348663, NM_182614

CCDS: CCDS45071

Canonical transcript exons

ENST00000375353 — 9 exons

Exon	Start	End
ENSE00001324544	113800827	113800912
ENSE00001466777	113759226	113759315
ENSE00001466795	113811736	113816995
ENSE00003500521	113769098	113769160
ENSE00003659814	113804885	113805028
ENSE00003682194	113801653	113801812
ENSE00003690922	113795148	113795237
ENSE00003723681	113766115	113766257
ENSE00003730001	113799339	113799419

Expression profiles

Bgee: expression breadth ubiquitous, 185 present calls, max score 93.55.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 3.5779 / max 115.7871, expressed in 1030 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136251	3.1106	936
136250	0.4674	274

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
omental fat pad	UBERON:0010414	93.55	gold quality
peritoneum	UBERON:0002358	93.45	gold quality
mucosa of stomach	UBERON:0001199	93.10	gold quality
right lobe of thyroid gland	UBERON:0001119	93.09	gold quality
upper lobe of left lung	UBERON:0008952	92.51	gold quality
left lobe of thyroid gland	UBERON:0001120	92.35	gold quality
left uterine tube	UBERON:0001303	92.08	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.92	gold quality
metanephros cortex	UBERON:0010533	91.79	gold quality
ectocervix	UBERON:0012249	91.63	gold quality
endocervix	UBERON:0000458	91.57	gold quality
body of uterus	UBERON:0009853	91.46	gold quality
upper lobe of lung	UBERON:0008948	91.16	gold quality
subcutaneous adipose tissue	UBERON:0002190	90.50	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.48	gold quality
thyroid gland	UBERON:0002046	90.46	gold quality
lower esophagus	UBERON:0013473	90.44	gold quality
right lung	UBERON:0002167	90.15	gold quality
apex of heart	UBERON:0002098	89.91	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	89.42	gold quality
gall bladder	UBERON:0002110	89.10	gold quality
left coronary artery	UBERON:0001626	88.47	gold quality
spleen	UBERON:0002106	88.03	gold quality
ascending aorta	UBERON:0001496	88.02	gold quality
thoracic aorta	UBERON:0001515	87.90	gold quality
tibial nerve	UBERON:0001323	87.50	gold quality
right adrenal gland cortex	UBERON:0035827	87.33	gold quality
left adrenal gland cortex	UBERON:0035825	87.19	gold quality
right atrium auricular region	UBERON:0006631	87.02	gold quality
coronary artery	UBERON:0001621	86.76	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-6701	yes	14.74
E-ANND-3	yes	12.11
E-CURD-112	yes	8.00
E-HCAD-13	yes	8.00

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	si:dkey-283j8.1	ENSDARG00000076050
mus_musculus	Tmem255b	ENSMUSG00000038457
rattus_norvegicus	Tmem255b	ENSRNOG00000026336

Protein

Protein identifiers

Transmembrane protein 255B — Q8WV15 (reviewed: Q8WV15)

Alternative names: Protein FAM70B

All UniProt accessions (2): A0A0B4J2D1, Q8WV15

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM255 family.

RefSeq proteins (2): NP_001335592, NP_872420* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR028014	TMEM255	Family

Pfam: PF14967

UniProt features (7 total): transmembrane region 4, 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-Q8WV15-F1	71.00	0.25

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 34 (showing top): BENPORATH_ES_WITH_H3K27ME3, chr13q34, LIM_MAMMARY_STEM_CELL_UP, SRC_UP.V1_UP, HSD17B8_TARGET_GENES, NFKBIA_TARGET_GENES, ZNF596_TARGET_GENES, GSE10463_CD40L_AND_VA347_VS_CD40L_IN_DC_DN, GSE11864_CSF1_PAM3CYS_VS_CSF1_IFNG_PAM3CYS_IN_MAC_UP, BLANCO_MELO_COVID19_SARS_COV_2_POS_PATIENT_LUNG_TISSUE_DN, POU2AF1_TARGET_GENES, FAN_EMBRYONIC_CTX_BIG_GROUPS_CAJAL_RETZIUS, MANNO_MIDBRAIN_NEUROTYPES_HENDO, AIZARANI_LIVER_C13_LSECS_2, DESCARTES_MAIN_FETAL_LYMPHATIC_ENDOTHELIAL_CELLS

GO Biological Process (0):

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

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

194 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM255B	TMEM225B	P0DP42	506
TMEM255B	UBALD2	Q8IYN6	431
TMEM255B	ACCSL	Q4AC99	395
TMEM255B	LRRC46	Q96FV0	394
TMEM255B	LRRC37B	Q96QE4	380
TMEM255B	PWWP3B	Q5H9M0	375
TMEM255B	EDDM3B	P56851	372
TMEM255B	PIMREG	Q9BSJ6	364
TMEM255B	FAM174B	Q3ZCQ3	358
TMEM255B	GRTP1	Q5TC63	348
TMEM255B	SLC9D1	Q6UWJ1	348
TMEM255B	ADPRHL1	Q8NDY3	325
TMEM255B	TMEM178A	Q8NBL3	321
TMEM255B	YIPF7	Q8N8F6	320
TMEM255B	MXRA8	Q9BRK3	318

IntAct

23 interactions, top by confidence:

A	B	Type	Score
ARFIP2	TMEM255B	psi-mi:“MI:0915”(physical association)	0.560
DGAT2L6	TMEM255B	psi-mi:“MI:0915”(physical association)	0.560
	TMEM255B	psi-mi:“MI:0915”(physical association)	0.560
TMEM255B	SFT2D1	psi-mi:“MI:0915”(physical association)	0.560
TMEM255B	TMEM14B	psi-mi:“MI:0915”(physical association)	0.560
HSD17B13	TMEM255B	psi-mi:“MI:0915”(physical association)	0.560
TMEM255B	PHYHIP	psi-mi:“MI:0914”(association)	0.530
TMEM255B	PLXDC2	psi-mi:“MI:0914”(association)	0.350
TMEM255B	CLPTM1	psi-mi:“MI:0914”(association)	0.350
TMEM255B	ARFIP2	psi-mi:“MI:0915”(physical association)	0.000
TMEM255B		psi-mi:“MI:0915”(physical association)	0.000
TMEM255B	DGAT2L6	psi-mi:“MI:0915”(physical association)	0.000
TMEM255B	TMEM14B	psi-mi:“MI:0915”(physical association)	0.000
TMEM255B	HSD17B13	psi-mi:“MI:0915”(physical association)	0.000
TMEM255B	SFT2D1	psi-mi:“MI:0915”(physical association)	0.000
flhA1	TMEM255B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (21): WWP1 (Affinity Capture-MS), PHYHIP (Affinity Capture-MS), PLXDC2 (Affinity Capture-MS), AMZ2 (Affinity Capture-MS), TMEM255B (Reconstituted Complex), PHYHIP (Affinity Capture-MS), WWP1 (Affinity Capture-MS), TMEM255B (Affinity Capture-RNA), TMEM255B (Two-hybrid), TMEM255B (Two-hybrid), TMEM255B (Two-hybrid), TMEM255B (Two-hybrid), TMEM255B (Two-hybrid), SFT2D1 (Two-hybrid), WWP1 (Affinity Capture-MS)

ESM2 similar proteins: A0PJX4, A2A8U2, A4D2P6, A6QM06, D4A6L0, E1BBQ2, O15079, O60320, P12755, P49797, P97260, Q0D2I5, Q12770, Q15884, Q1RMB5, Q3TS39, Q3UPR0, Q4FZH1, Q5MNU5, Q5SNT2, Q5T848, Q5XKK7, Q60698, Q6A044, Q7T0Z7, Q7TMB0, Q7TPB0, Q810F0, Q86XR5, Q8BX43, Q8BXL9, Q8C419, Q8CA71, Q8K064, Q8K2Y3, Q8N114, Q8NDY8, Q8WV15, Q91WM6, Q92537

Diamond homologs: Q5FW56, Q5JRV8, Q66IQ1, Q7TMP6, Q8BHW5, Q8WV15, Q9BE63

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	55
Likely benign	11
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2838 predictions. Top by Δscore:

Variant	Effect	Δscore
13:113766113:A:AG	acceptor_gain	1.0000
13:113766113:AGAAG:A	acceptor_gain	1.0000
13:113766114:G:GG	acceptor_gain	1.0000
13:113766114:GAA:G	acceptor_gain	1.0000
13:113766114:GAAGG:G	acceptor_gain	1.0000
13:113766256:TT:T	donor_gain	1.0000
13:113766258:G:GG	donor_gain	1.0000
13:113795142:TTGCA:T	acceptor_loss	1.0000
13:113795145:CAGCT:C	acceptor_loss	1.0000
13:113795234:CATT:C	donor_gain	1.0000
13:113795234:CATTG:C	donor_loss	1.0000
13:113795235:ATT:A	donor_gain	1.0000
13:113795236:TT:T	donor_gain	1.0000
13:113795236:TTG:T	donor_loss	1.0000
13:113795237:TG:T	donor_loss	1.0000
13:113795238:G:GG	donor_gain	1.0000
13:113795238:GTGAG:G	donor_loss	1.0000
13:113795239:T:G	donor_loss	1.0000
13:113795240:G:GT	donor_loss	1.0000
13:113795241:AGTAC:A	donor_loss	1.0000
13:113800056:G:GT	donor_gain	1.0000
13:113800056:G:T	donor_gain	1.0000
13:113800821:CCCCA:C	acceptor_loss	1.0000
13:113800822:CCCA:C	acceptor_loss	1.0000
13:113800823:CCA:C	acceptor_loss	1.0000
13:113800824:CA:C	acceptor_loss	1.0000
13:113800825:A:AC	acceptor_loss	1.0000
13:113800826:G:GT	acceptor_loss	1.0000
13:113801651:A:AG	acceptor_gain	1.0000
13:113801652:G:GA	acceptor_gain	1.0000

AlphaMissense

2064 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:113795172:A:C	S93R	0.999
13:113795174:T:A	S93R	0.999
13:113795174:T:G	S93R	0.999
13:113799366:T:A	C124S	0.997
13:113799367:G:C	C124S	0.997
13:113800883:T:G	C160W	0.997
13:113801681:T:C	F180L	0.997
13:113801683:C:A	F180L	0.997
13:113801683:C:G	F180L	0.997
13:113800889:C:G	C162W	0.996
13:113801682:T:G	F180C	0.996
13:113799366:T:C	C124R	0.995
13:113800881:T:C	C160R	0.995
13:113800882:G:A	C160Y	0.995
13:113801682:T:C	F180S	0.995
13:113795179:G:A	G95D	0.994
13:113800884:T:G	Y161D	0.994
13:113766249:G:T	G61W	0.993
13:113795178:G:C	G95R	0.993
13:113800881:T:A	C160S	0.993
13:113800882:G:C	C160S	0.993
13:113801699:T:A	C186S	0.993
13:113801700:G:C	C186S	0.993
13:113769108:G:A	G67E	0.992
13:113769119:G:A	G71R	0.992
13:113769119:G:C	G71R	0.992
13:113800887:T:C	C162R	0.992
13:113800888:G:A	C162Y	0.992
13:113801771:G:C	G210R	0.992
13:113799368:C:G	C124W	0.991

dbSNP variants (sampled 300 via entrez): RS1000018743 (13:113791342 C>T), RS1000064223 (13:113771345 T>C), RS1000068491 (13:113776455 C>G,T), RS1000113982 (13:113806638 G>A), RS1000179688 (13:113808046 G>T), RS1000229234 (13:113816334 G>C), RS1000249015 (13:113791711 C>T), RS1000361721 (13:113812454 CCG>C), RS1000421200 (13:113780142 A>G), RS1000426102 (13:113782246 A>G), RS1000497254 (13:113770221 C>G), RS1000521641 (13:113795410 C>T), RS1000599956 (13:113786271 C>T), RS1000657312 (13:113786942 A>G), RS1000752838 (13:113780741 G>C)

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

1 associations (top):

Study	Trait	p-value
GCST007094_19	Diastolic blood pressure	8.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
sotorasib	affects cotreatment, increases expression	1
sodium arsenate	increases abundance, increases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	increases methylation	1
CGP 52608	affects binding, increases reaction	1
jinfukang	increases expression	1
trametinib	affects cotreatment, increases expression	1
NVP-BKM120	affects cotreatment, increases expression	1
Arsenic	increases abundance, increases expression	1
Atrazine	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Methapyrilene	increases methylation	1
Thiram	increases expression	1
Cadmium Chloride	increases expression	1
S-Nitrosoglutathione	decreases expression	1

Clinical trials (associated diseases)

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