LRRC57

Summary

LRRC57 (leucine rich repeat containing 57, HGNC:26719) is a protein-coding gene on chromosome 15q15.2, encoding Leucine-rich repeat-containing protein 57 (Q8N9N7).

Located in extracellular exosome.

Source: NCBI Gene 255252 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 47 total
• MANE Select transcript: NM_153260

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26719
Approved symbol	LRRC57
Name	leucine rich repeat containing 57
Location	15q15.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ36812
Ensembl gene	ENSG00000180979
Ensembl biotype	protein_coding
Entrez	255252

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 2 retained_intron

ENST00000323443, ENST00000397130, ENST00000562868, ENST00000563454, ENST00000569830, ENST00000570160, ENST00000954965

RefSeq mRNA: 1 — MANE Select: NM_153260 NM_153260

CCDS: CCDS10089

Canonical transcript exons

ENST00000397130 — 6 exons

Exon	Start	End
ENSE00001284499	42547261	42547529
ENSE00001284507	42548106	42548244
ENSE00001527414	42537829	42544124
ENSE00001527416	42548693	42548793
ENSE00003644716	42548351	42548456
ENSE00003688500	42545077	42545262

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 88.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.9229 / max 110.0044, expressed in 1808 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149566	10.7191	1797
149565	3.2038	1555

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
amniotic fluid	UBERON:0000173	88.79	gold quality
epithelial cell of pancreas	CL:0000083	86.49	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.35	gold quality
palpebral conjunctiva	UBERON:0001812	85.54	gold quality
monocyte	CL:0000576	85.03	gold quality
calcaneal tendon	UBERON:0003701	84.72	gold quality
leukocyte	CL:0000738	84.69	gold quality
rectum	UBERON:0001052	84.63	gold quality
adrenal tissue	UBERON:0018303	84.63	gold quality
endothelial cell	CL:0000115	84.49	gold quality
ventricular zone	UBERON:0003053	83.48	gold quality
stromal cell of endometrium	CL:0002255	83.09	gold quality
bone marrow	UBERON:0002371	82.71	gold quality
bone marrow cell	CL:0002092	82.66	gold quality
gingival epithelium	UBERON:0001949	82.62	gold quality
colonic epithelium	UBERON:0000397	82.20	gold quality
ganglionic eminence	UBERON:0004023	82.14	gold quality
blood	UBERON:0000178	81.98	gold quality
germinal epithelium of ovary	UBERON:0001304	81.77	gold quality
islet of Langerhans	UBERON:0000006	81.71	gold quality
secondary oocyte	CL:0000655	81.64	gold quality
smooth muscle tissue	UBERON:0001135	81.49	gold quality
mucosa of stomach	UBERON:0001199	81.48	gold quality
buccal mucosa cell	CL:0002336	81.33	gold quality
ileal mucosa	UBERON:0000331	81.30	gold quality
granulocyte	CL:0000094	80.50	gold quality
jejunal mucosa	UBERON:0000399	80.38	gold quality
placenta	UBERON:0001987	80.32	gold quality
mucosa of transverse colon	UBERON:0004991	80.30	gold quality
right lung	UBERON:0002167	80.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.20

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

82 targeting LRRC57, 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-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-2052	99.79	69.37	2031
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-5002-5P	99.76	70.84	1763
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-1976	99.74	65.48	1127

Literature-anchored findings (GeneRIF, showing 1)

• Increased expression of LRRC57 is associated with genetic risk for bipolar disorder. (PMID:30419947)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	lrrc57	ENSDARG00000043938
mus_musculus	Lrrc57	ENSMUSG00000027286
rattus_norvegicus	Lrrc57	ENSRNOG00000009143
drosophila_melanogaster	CG3040	FBGN0029925

Protein

Protein identifiers

Leucine-rich repeat-containing protein 57 — Q8N9N7 (reviewed: Q8N9N7)

All UniProt accessions (2): Q8N9N7, H3BSW0

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_694992* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050216	LRR_domain-containing	Family
IPR055414	LRR_R13L4/SHOC2-like	Domain

Pfam: PF13855, PF23598

UniProt features (13 total): repeat 8, sequence conflict 2, initiator methionine 1, chain 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N9N7-F1	95.81	0.95

Functional residue map

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

Post-translational modifications (1): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 96 (showing top): GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GTGCCTT_MIR506, TCF11_01, TGCCTTA_MIR124A, DURCHDEWALD_SKIN_CARCINOGENESIS_DN, TAATTA_CHX10_01, PR_Q2, LU_EZH2_TARGETS_DN, CHEMNITZ_RESPONSE_TO_PROSTAGLANDIN_E2_DN, GCNP_SHH_UP_EARLY.V1_DN, ARNT2_TARGET_GENES, ATF6_TARGET_GENES, CREB3L4_TARGET_GENES, DLX4_TARGET_GENES

GO Biological Process (0):

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

GO Cellular Component (2): membrane (GO:0016020), extracellular exosome (GO:0070062)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

1224 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC57	ZFYVE19	Q96K21	520
LRRC57	DNAJC17	Q9NVM6	485
LRRC57	CDHR5	Q9HBB8	454
LRRC57	STARD9	Q9P2P6	441
LRRC57	ERICH5	Q6P6B1	427
LRRC57	SERF2	P84101	426
LRRC57	IVD	P26440	417
LRRC57	HMGXB4	Q9UGU5	408
LRRC57	MANBAL	Q9NQG1	402
LRRC57	ERICH6	Q7L0X2	388
LRRC57	MCRIP1	C9JLW8	386
LRRC57	ME2	P23368	383
LRRC57	CCDC116	Q8IYX3	373
LRRC57	DCAF12L1	Q5VU92	370
LRRC57	CLUL1	Q15846	369

IntAct

30 interactions, top by confidence:

A	B	Type	Score
VAPB	FAM83G	psi-mi:“MI:0914”(association)	0.730
LRRC57	MACIR	psi-mi:“MI:0914”(association)	0.640
UNC119	UNC119B	psi-mi:“MI:0914”(association)	0.640
CSGALNACT2	GOLIM4	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
	AP3D1	psi-mi:“MI:0914”(association)	0.460
LRRC57	NIT1	psi-mi:“MI:0915”(physical association)	0.400
LRRC57	CFTR	psi-mi:“MI:0915”(physical association)	0.370
CFTR	LRRC57	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
CSGALNACT2	CLASP2	psi-mi:“MI:0914”(association)	0.350
PSMC2	PSMD1	psi-mi:“MI:0914”(association)	0.350
CACYBP	VPS37C	psi-mi:“MI:0914”(association)	0.350
CACYBP	PSMD11	psi-mi:“MI:0914”(association)	0.350
CAPRIN1	SDCBP	psi-mi:“MI:0914”(association)	0.350
EIF4A1	SNAP23	psi-mi:“MI:0914”(association)	0.350
INF2	SERPINA1	psi-mi:“MI:0914”(association)	0.350
LRRC57	UNC119B	psi-mi:“MI:0914”(association)	0.350
SYF2	ISY1-RAB43	psi-mi:“MI:0914”(association)	0.350
VASN	DENND11	psi-mi:“MI:0914”(association)	0.350
CSDE1	VPS37C	psi-mi:“MI:0914”(association)	0.350
UCHL1	SNAP23	psi-mi:“MI:0914”(association)	0.350
KRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
HRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
sifA	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
CDH1	ESYT2	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (61): LRRC57 (Affinity Capture-MS), LRRC57 (Proximity Label-MS), C5orf30 (Affinity Capture-MS), LRRC40 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), LRRC57 (Affinity Capture-MS), LRRC57 (Proximity Label-MS), LRRC57 (Proximity Label-MS), LRRC57 (Proximity Label-MS), LRRC57 (Proximity Label-MS), LRRC57 (Proximity Label-MS), LRRC57 (Proximity Label-MS), LRRC57 (Synthetic Lethality), LRRC57 (Proximity Label-MS), LRRC57 (Proximity Label-MS)

ESM2 similar proteins: A6QLV3, A7SFP1, A8XWW4, B0W6M9, B3LWU3, B3P3E8, B4IBI9, B4JTV9, B4LXW1, B4N9T4, B4PU77, B4QVR7, B5DX45, B6CZ61, B9F655, O35125, O88520, Q1L8Y7, Q22875, Q32KP2, Q4R3P6, Q4V8I7, Q53EV4, Q5F4C4, Q5FVI3, Q5GIG6, Q5M8G4, Q5RAV5, Q5RFE9, Q5ZLN0, Q6AYI5, Q6DHL5, Q6GPJ5, Q6INV3, Q6P1C6, Q6UXM1, Q6ZVD8, Q7SXW3, Q7Z4L9, Q80VQ1

Diamond homologs: Q5FVI3, Q6DHL5, Q6INV3, Q8N9N7, Q9D1G5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 36 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Regulation of RAS by GAPs	6	52.8×	3e-07
Neutrophil degranulation	7	7.3×	1e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	36
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

847 predictions. Top by Δscore:

Variant	Effect	Δscore
15:42544020:AG:A	donor_gain	1.0000
15:42544021:G:C	donor_gain	1.0000
15:42544051:AT:A	donor_gain	1.0000
15:42544052:T:TA	donor_gain	1.0000
15:42545072:CATA:C	donor_loss	1.0000
15:42545075:ACCT:A	donor_loss	1.0000
15:42545076:C:G	donor_loss	1.0000
15:42545258:GATAT:G	acceptor_gain	1.0000
15:42545259:ATAT:A	acceptor_gain	1.0000
15:42545260:TAT:T	acceptor_gain	1.0000
15:42545261:AT:A	acceptor_gain	1.0000
15:42545263:C:CC	acceptor_gain	1.0000
15:42545263:C:T	acceptor_loss	1.0000
15:42545264:T:C	acceptor_loss	1.0000
15:42545265:A:C	acceptor_gain	1.0000
15:42545266:T:C	acceptor_gain	1.0000
15:42545266:T:TC	acceptor_gain	1.0000
15:42545275:C:CT	acceptor_gain	1.0000
15:42545275:C:T	acceptor_gain	1.0000
15:42545277:C:CT	acceptor_gain	1.0000
15:42545278:A:T	acceptor_gain	1.0000
15:42547321:T:TA	donor_gain	1.0000
15:42548088:C:A	donor_gain	1.0000
15:42548104:A:AC	donor_gain	1.0000
15:42548105:C:CC	donor_gain	1.0000
15:42548105:CT:C	donor_gain	1.0000
15:42548108:A:AC	donor_gain	1.0000
15:42548109:G:C	donor_gain	1.0000
15:42548152:T:A	donor_gain	1.0000
15:42548241:GGAA:G	acceptor_gain	1.0000

AlphaMissense

1565 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:42545122:A:C	N211K	0.999
15:42545122:A:T	N211K	0.999
15:42545197:A:C	N186K	0.999
15:42545197:A:T	N186K	0.999
15:42545210:C:G	R182P	0.998
15:42545213:A:G	L181P	0.998
15:42547264:A:C	N163K	0.997
15:42547264:A:T	N163K	0.997
15:42547274:A:G	L160P	0.997
15:42547280:A:G	L158P	0.997
15:42544110:G:C	F231L	0.996
15:42544110:G:T	F231L	0.996
15:42544112:A:G	F231L	0.996
15:42545198:T:A	N186I	0.996
15:42545199:T:A	N186Y	0.996
15:42545199:T:G	N186H	0.996
15:42545207:A:G	L183P	0.996
15:42547484:A:G	L90P	0.996
15:42548129:A:G	L67P	0.996
15:42545124:T:C	N211D	0.995
15:42545213:A:T	L181H	0.995
15:42547330:G:C	N141K	0.995
15:42547330:G:T	N141K	0.995
15:42547415:A:G	L113P	0.995
15:42547424:A:T	L110H	0.995
15:42548397:G:T	A13E	0.995
15:42548398:C:G	A13P	0.995
15:42545123:T:A	N211I	0.994
15:42545127:C:G	G210R	0.994
15:42545199:T:C	N186D	0.994

dbSNP variants (sampled 300 via entrez): RS1000026125 (15:42544594 G>A), RS1000033769 (15:42547765 A>C), RS1000085531 (15:42548182 CTTG>C), RS1000097704 (15:42543062 G>A,T), RS1000221779 (15:42531630 T>C), RS1000315408 (15:42544265 T>C), RS1000499677 (15:42533038 C>G,T), RS1000553443 (15:42533433 C>T), RS1000570341 (15:42539498 A>G), RS1000642359 (15:42535822 G>C), RS1000781585 (15:42533737 T>A,G), RS1000939927 (15:42542391 A>G), RS1001255600 (15:42539830 C>T), RS1001309274 (15:42532613 ATT>A), RS1001534681 (15:42545614 A>G)

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
GCST008103_17	Bipolar disorder	9.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	decreases methylation, increases expression	2
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
ICG 001	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Rotenone	increases expression	1
Testosterone	increases expression	1
Tretinoin	increases expression	1
Urethane	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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