LRRC75B

Summary

LRRC75B (leucine rich repeat containing 75B, HGNC:33155) is a protein-coding gene on chromosome 22q11.23, encoding Leucine-rich repeat-containing protein 75B (Q2VPJ9). May suppress myogenic differentiation by modulating MYOG expression and Erk1/2 signaling.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_207644

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33155
Approved symbol	LRRC75B
Name	leucine rich repeat containing 75B
Location	22q11.23
Locus type	gene with protein product
Status	Approved
Aliases	MGC131773
Ensembl gene	ENSG00000178026
Ensembl biotype	protein_coding
Entrez	388886

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 4 protein_coding, 3 retained_intron, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000318753, ENST00000404045, ENST00000446942, ENST00000460524, ENST00000464490, ENST00000465334, ENST00000491910, ENST00000495297, ENST00000876360, ENST00000876361, ENST00000935984

RefSeq mRNA: 1 — MANE Select: NM_207644 NM_207644

CCDS: CCDS42991

Canonical transcript exons

ENST00000318753 — 4 exons

Exon	Start	End
ENSE00001753854	24592863	24593073
ENSE00003458221	24585635	24586411
ENSE00003579732	24588214	24588329
ENSE00003649609	24589821	24589949

Expression profiles

Bgee: expression breadth ubiquitous, 212 present calls, max score 95.69.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.1976 / max 65.6521, expressed in 1412 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193387	4.1976	1412

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	95.69	silver quality
parotid gland	UBERON:0001831	93.66	silver quality
vena cava	UBERON:0004087	93.33	silver quality
right lobe of liver	UBERON:0001114	93.25	gold quality
left lobe of thyroid gland	UBERON:0001120	93.08	gold quality
right lobe of thyroid gland	UBERON:0001119	92.83	gold quality
thyroid gland	UBERON:0002046	92.72	gold quality
lateral nuclear group of thalamus	UBERON:0002736	91.79	silver quality
lateral globus pallidus	UBERON:0002476	91.65	silver quality
lower esophagus mucosa	UBERON:0035834	90.63	gold quality
body of tongue	UBERON:0011876	90.46	silver quality
ventral tegmental area	UBERON:0002691	89.85	silver quality
pons	UBERON:0000988	89.81	silver quality
tongue	UBERON:0001723	89.70	silver quality
pharyngeal mucosa	UBERON:0000355	89.61	silver quality
trachea	UBERON:0003126	89.46	silver quality
metanephros cortex	UBERON:0010533	89.41	gold quality
pylorus	UBERON:0001166	89.16	silver quality
medulla oblongata	UBERON:0001896	88.86	silver quality
substantia nigra pars compacta	UBERON:0001965	88.83	silver quality
superior vestibular nucleus	UBERON:0007227	88.77	silver quality
ventricular zone	UBERON:0003053	88.66	gold quality
cerebellar vermis	UBERON:0004720	88.56	gold quality
prostate gland	UBERON:0002367	88.52	gold quality
inferior vagus X ganglion	UBERON:0005363	88.42	silver quality
trigeminal ganglion	UBERON:0001675	88.41	silver quality
tibial nerve	UBERON:0001323	88.39	gold quality
superior surface of tongue	UBERON:0007371	88.35	silver quality
fundus of stomach	UBERON:0001160	88.34	gold quality
dorsal root ganglion	UBERON:0000044	88.06	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

9 targeting LRRC75B, 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-636	99.80	69.58	1500
HSA-MIR-6757-3P	99.63	66.88	1089
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-6794-3P	98.76	66.99	894
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-7112-3P	97.67	68.77	948
HSA-MIR-125B-2-3P	96.69	68.38	1210
HSA-MIR-668-3P	96.18	65.80	673
HSA-MIR-6785-3P	86.75	66.49	45

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Lrrc75b	ENSMUSG00000046807
rattus_norvegicus	Lrrc75b	ENSRNOG00000075066

Protein

Protein identifiers

Leucine-rich repeat-containing protein 75B — Q2VPJ9 (reviewed: Q2VPJ9)

Alternative names: Leucine-rich repeat-containing protein FAM211B

All UniProt accessions (3): F8WCG9, F8WCZ7, Q2VPJ9

UniProt curated annotations — full annotation on UniProt →

Function. May suppress myogenic differentiation by modulating MYOG expression and Erk1/2 signaling.

Similarity. Belongs to the LRRC75 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q2VPJ9-1	1	yes
Q2VPJ9-2	2

RefSeq proteins (1): NP_997527* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032675	LRR_dom_sf	Homologous_superfamily

UniProt features (10 total): repeat 2, region of interest 2, compositionally biased region 2, splice variant 2, chain 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2VPJ9-F1	73.05	0.37

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 66 (showing top): ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, MIKKELSEN_MCV6_HCP_WITH_H3K27ME3, GSE13522_WT_VS_IFNAR_KO_SKING_T_CRUZI_Y_STRAIN_INF_DN, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_IFNAR_KO_UP, EBNA1BP2_TARGET_GENES, ZBTB12_TARGET_GENES, GSE10239_MEMORY_VS_KLRG1INT_EFF_CD8_TCELL_UP, MIR636, GSE13306_TREG_VS_TCONV_LAMINA_PROPRIA_DN, GSE14308_TH1_VS_INDUCED_TREG_UP, GSE14308_NAIVE_CD4_TCELL_VS_INDUCED_TREG_UP, DESCARTES_MAIN_FETAL_DUCTAL_CELLS, PSIP1_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

96 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC75B	C22orf15	Q8WYQ4	718
LRRC75B	DRICH1	Q6PGQ1	622
LRRC75B	GUCD1	Q96NT3	591
LRRC75B	PROSER2	Q86WR7	581
LRRC75B	ZNF70	Q9UC06	571
LRRC75B	GSTT4	A0A1W2PR19	567
LRRC75B	DDTL	A6NHG4	542
LRRC75B	RGL4	Q8IZJ4	507
LRRC75B	STOML1	Q9UBI4	448
LRRC75B	SPECC1L	Q69YQ0	434
LRRC75B	UPB1	Q9UBR1	419
LRRC75B	H7C1H1	H7C1H1	418
LRRC75B	SLC2A11	Q9BYW1	417
LRRC75B	VPREB3	Q9UKI3	395
LRRC75B	CHRNA1	P02708	384

IntAct

0 interactions, top by confidence:

BioGRID (2): LRRC75B (Affinity Capture-RNA), LRRC75B (Positive Genetic)

ESM2 similar proteins: A0A1W2PP97, A6NLX4, A6QNY1, P0DJK0, P12838, P13207, P22389, P22749, P23943, P29473, P29474, P55056, P70313, P79209, P97270, P98162, Q1RMT9, Q28969, Q2TAL6, Q2VPJ9, Q4TUC0, Q566C8, Q5BIR3, Q5JTB6, Q5NRP8, Q5RCS3, Q5SPX3, Q5XIX0, Q62600, Q64322, Q7TMJ8, Q7TPD7, Q7TSF4, Q80TT8, Q867D0, Q8BZT7, Q8C8N3, Q8K1T4, Q8K4Z2, Q8MJW9

Diamond homologs: Q2VPJ9, Q7TPD7, Q7TSF4, Q8NAA5, P78395

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1450 predictions. Top by Δscore:

Variant	Effect	Δscore
22:24588209:CTTA:C	donor_loss	1.0000
22:24588210:TTA:T	donor_loss	1.0000
22:24588211:TA:T	donor_loss	1.0000
22:24588212:A:AC	donor_gain	1.0000
22:24588212:A:AG	donor_loss	1.0000
22:24588213:C:CC	donor_gain	1.0000
22:24588213:CCAG:C	donor_gain	1.0000
22:24588227:T:TA	donor_gain	1.0000
22:24588325:TAGTC:T	acceptor_gain	1.0000
22:24588327:GTC:G	acceptor_gain	1.0000
22:24588328:TC:T	acceptor_gain	1.0000
22:24588329:CC:C	acceptor_gain	1.0000
22:24588329:CCTG:C	acceptor_loss	1.0000
22:24588330:C:CC	acceptor_gain	1.0000
22:24588331:T:G	acceptor_loss	1.0000
22:24589817:TCA:T	donor_loss	1.0000
22:24589820:C:CG	donor_loss	1.0000
22:24589820:CCTT:C	donor_gain	1.0000
22:24589945:AGGTC:A	acceptor_gain	1.0000
22:24589946:GGTC:G	acceptor_gain	1.0000
22:24589948:TC:T	acceptor_gain	1.0000
22:24589949:CCTG:C	acceptor_gain	1.0000
22:24589959:G:C	acceptor_gain	1.0000
22:24589959:G:GC	acceptor_gain	1.0000
22:24592822:C:CA	donor_gain	1.0000
22:24592852:C:CA	donor_gain	1.0000
22:24586412:C:CC	acceptor_gain	0.9900
22:24588207:CCCTT:C	donor_loss	0.9900
22:24588326:AGTC:A	acceptor_gain	0.9900
22:24589819:A:AC	donor_gain	0.9900

AlphaMissense

1980 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:24586267:G:C	F189L	0.979
22:24586267:G:T	F189L	0.979
22:24586269:A:G	F189L	0.979
22:24586120:G:C	F238L	0.945
22:24586120:G:T	F238L	0.945
22:24586122:A:G	F238L	0.945
22:24592927:A:G	I38T	0.940
22:24586087:G:C	N249K	0.922
22:24586087:G:T	N249K	0.922
22:24586270:G:C	S188R	0.919
22:24586270:G:T	S188R	0.919
22:24586272:T:G	S188R	0.919
22:24586121:A:G	F238S	0.915
22:24586180:G:C	N218K	0.908
22:24586180:G:T	N218K	0.908
22:24586184:C:A	G217V	0.907
22:24586090:G:C	N248K	0.905
22:24586090:G:T	N248K	0.905
22:24592940:A:G	W34R	0.884
22:24592940:A:T	W34R	0.884
22:24592936:A:T	L35H	0.883
22:24586196:A:T	L213H	0.880
22:24588286:A:T	L117H	0.879
22:24586196:A:G	L213P	0.876
22:24588286:A:G	L117P	0.876
22:24586091:T:A	N248I	0.867
22:24586107:A:G	W243R	0.867
22:24586107:A:T	W243R	0.867
22:24592927:A:C	I38S	0.864
22:24586190:A:T	L215H	0.859

dbSNP variants (sampled 300 via entrez): RS1000232388 (22:24588993 C>T), RS1000266797 (22:24589237 A>G), RS1000616149 (22:24587452 C>T), RS1000643265 (22:24593127 A>G), RS1001009331 (22:24585860 T>C), RS1001230668 (22:24589221 A>G), RS1001270770 (22:24590883 C>T), RS1001283155 (22:24589457 G>A), RS1001711695 (22:24585637 G>A), RS1001837618 (22:24585136 C>T), RS1002179047 (22:24594113 C>T), RS1002278377 (22:24592496 C>G), RS1002313012 (22:24586539 C>G,T), RS1002413627 (22:24586703 G>A,C), RS1002721252 (22:24594350 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

4 associations (top):

Study	Trait	p-value
GCST000248_7	Liver enzyme levels	4.000000e-11
GCST001234_7	Gamma glutamyl transpeptidase	7.000000e-53
GCST002481_6	Acne (severe)	6.000000e-07
GCST90013407_1	Liver enzyme levels (gamma-glutamyl transferase)	1.000000e-300

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
afuresertib	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
abrine	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Zoledronic Acid	decreases expression	1
Vorinostat	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	decreases expression, increases abundance	1
Calcitriol	increases expression, affects cotreatment	1
Cisplatin	affects cotreatment, increases expression	1
Estradiol	affects cotreatment, increases expression	1
Niclosamide	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Testosterone	affects cotreatment, increases expression	1
Thimerosal	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	affects expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Cyclosporine	decreases expression	1
Cadmium Chloride	decreases expression, increases abundance	1
Palmitic Acid	decreases expression	1

Clinical trials (associated diseases)

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