UPK3BL2

gene

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Summary

UPK3BL2 (uroplakin 3B like 2, HGNC:53444) is a protein-coding gene on chromosome 7q22.1, encoding Uroplakin-3b-like protein 2 (E5RIL1).

Predicted to be active in membrane.

Source: NCBI Gene 107983993 — RefSeq curated summary.

At a glance

MANE Select transcript: NM_001363506

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53444
Approved symbol	UPK3BL2
Name	uroplakin 3B like 2
Location	7q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284981
Ensembl biotype	protein_coding
Entrez	107983993

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000644544

RefSeq mRNA: 1 — MANE Select: NM_001363506 NM_001363506

CCDS: CCDS87532

Canonical transcript exons

ENST00000644544 — 6 exons

Exon	Start	End
ENSE00003814504	102540015	102540091
ENSE00003815713	102541093	102541303
ENSE00003825358	102541501	102541662
ENSE00003827892	102539606	102539726
ENSE00003978328	102543525	102543696
ENSE00003978329	102537919	102538525

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 96.75.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	96.75	gold quality
spleen	UBERON:0002106	92.08	gold quality
mucosa of stomach	UBERON:0001199	91.98	gold quality
lower esophagus mucosa	UBERON:0035834	91.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.64	gold quality
right lobe of thyroid gland	UBERON:0001119	91.62	gold quality
vagina	UBERON:0000996	90.73	gold quality
esophagus mucosa	UBERON:0002469	90.39	gold quality
left lobe of thyroid gland	UBERON:0001120	90.35	gold quality
sural nerve	UBERON:0015488	90.28	gold quality
thyroid gland	UBERON:0002046	89.89	gold quality
fundus of stomach	UBERON:0001160	89.63	gold quality
ectocervix	UBERON:0012249	89.47	gold quality
small intestine Peyer’s patch	UBERON:0003454	89.46	gold quality
blood	UBERON:0000178	89.37	gold quality
left uterine tube	UBERON:0001303	89.37	gold quality
right uterine tube	UBERON:0001302	89.34	gold quality
right ovary	UBERON:0002118	89.18	gold quality
metanephros cortex	UBERON:0010533	88.40	gold quality
mucosa of transverse colon	UBERON:0004991	88.39	gold quality
right hemisphere of cerebellum	UBERON:0014890	88.39	gold quality
esophagus	UBERON:0001043	88.32	gold quality
right lobe of liver	UBERON:0001114	88.31	gold quality
endocervix	UBERON:0000458	88.20	gold quality
upper lobe of left lung	UBERON:0008952	87.93	gold quality
pituitary gland	UBERON:0000007	87.86	gold quality
body of stomach	UBERON:0001161	87.67	gold quality
prostate gland	UBERON:0002367	87.67	gold quality
cerebellar hemisphere	UBERON:0002245	87.56	gold quality
right coronary artery	UBERON:0001625	87.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.87

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	upk3b	ENSDARG00000092872
mus_musculus	Upk3bl	ENSMUSG00000006143
rattus_norvegicus	Upk3bl1	ENSRNOG00000038896

Paralogs (3): UPK3A (ENSG00000100373), UPK3B (ENSG00000243566), UPK3BL1 (ENSG00000267368)

Protein

Protein identifiers

Uroplakin-3b-like protein 2 — E5RIL1 (reviewed: E5RIL1)

All UniProt accessions (1): E5RIL1

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the uroplakin-3 family.

RefSeq proteins (1): NP_001350435* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR024831	Uroplakin-3	Family

UniProt features (10 total): glycosylation site 5, topological domain 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-E5RIL1-F1	82.61	0.60

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (5): 51, 76, 91, 110, 140

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr7q22

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

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1

Diamond homologs: A6QQ85, B0FP48, E5RIL1, Q13670, Q80YF6, Q864V4, Q9BT76, Q9D701, O75631, P38574, Q9JKX8

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

1093 predictions. Top by Δscore:

Variant	Effect	Δscore
7:102539747:C:CT	acceptor_gain	1.0000
7:102539749:C:CT	acceptor_gain	1.0000
7:102539751:C:CT	acceptor_gain	1.0000
7:102540010:CCTAC:C	donor_loss	1.0000
7:102540012:TA:T	donor_loss	1.0000
7:102540013:A:C	donor_loss	1.0000
7:102540014:C:CA	donor_loss	1.0000
7:102540014:CCTTG:C	donor_gain	1.0000
7:102540090:CC:C	acceptor_gain	1.0000
7:102540091:CC:C	acceptor_gain	1.0000
7:102540092:C:CC	acceptor_gain	1.0000
7:102541301:TGG:T	acceptor_gain	1.0000
7:102541304:C:CC	acceptor_gain	1.0000
7:102541498:CAC:C	donor_loss	1.0000
7:102541499:A:AC	donor_gain	1.0000
7:102541499:A:T	donor_loss	1.0000
7:102541500:C:CC	donor_gain	1.0000
7:102541500:C:CG	donor_loss	1.0000
7:102541516:C:CT	donor_gain	1.0000
7:102541517:C:CT	donor_gain	1.0000
7:102541658:GGCAG:G	acceptor_gain	1.0000
7:102541659:GCAG:G	acceptor_gain	1.0000
7:102541660:CAG:C	acceptor_gain	1.0000
7:102541660:CAGC:C	acceptor_gain	1.0000
7:102541661:AG:A	acceptor_gain	1.0000
7:102541663:C:CC	acceptor_gain	1.0000
7:102543519:ACTC:A	donor_loss	1.0000
7:102543523:A:AC	donor_gain	1.0000
7:102543523:AC:A	donor_gain	1.0000
7:102543524:C:CA	donor_loss	1.0000

AlphaMissense

1685 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1004558962 (7:102537818 T>C), RS1014035014 (7:102544124 C>G,T), RS1014584090 (7:102537987 C>A,G), RS1034201572 (7:102539690 G>A,C), RS1039990548 (7:102540553 G>C), RS1040424071 (7:102542982 T>A,G), RS1044248309 (7:102543039 G>A,C,T), RS1052802785 (7:102544116 G>A), RS1063548 (7:102538297 T>A,C,G), RS1105027 (7:102543455 G>A), RS1105028 (7:102543450 A>C,G), RS1105029 (7:102543353 A>G), RS1105030 (7:102543315 G>A), RS1105057 (7:102542680 T>A,C,G), RS111423024 (7:102545085 C>A,G,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

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases expression	1
Diuron	decreases expression	1
Smoke	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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

No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.