LRRC70

Summary

LRRC70 (leucine rich repeat containing 70, HGNC:35155) is a protein-coding gene on chromosome 5q12.1, encoding Leucine-rich repeat-containing protein 70 (Q7Z2Q7). Renders cells highly sensitive to the activation by cytokines and lipopolysaccharide (LPS).

Involved in positive regulation of response to cytokine stimulus. Located in plasma membrane.

Source: NCBI Gene 100130733 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 1 total
• MANE Select transcript: NM_181506

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:35155
Approved symbol	LRRC70
Name	leucine rich repeat containing 70
Location	5q12.1
Locus type	gene with protein product
Status	Approved
Aliases	SLRN, LOC100130733
Ensembl gene	ENSG00000186105
Ensembl biotype	protein_coding
Entrez	100130733

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000334994, ENST00000448151, ENST00000491184

RefSeq mRNA: 1 — MANE Select: NM_181506 NM_181506

CCDS: CCDS47218

Canonical transcript exons

ENST00000334994 — 2 exons

Exon	Start	End
ENSE00001337991	62579401	62581446
ENSE00001674472	62578819	62578935

Expression profiles

Bgee: expression breadth ubiquitous, 133 present calls, max score 83.26.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0250 / max 4.8754, expressed in 8 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
56648	2.7318	376
56649	0.0250	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.26	gold quality
subcutaneous adipose tissue	UBERON:0002190	80.20	gold quality
adipose tissue	UBERON:0001013	80.08	gold quality
omental fat pad	UBERON:0010414	79.94	gold quality
smooth muscle tissue	UBERON:0001135	78.53	gold quality
thoracic mammary gland	UBERON:0005200	78.27	gold quality
spleen	UBERON:0002106	77.57	gold quality
gall bladder	UBERON:0002110	77.23	gold quality
left uterine tube	UBERON:0001303	75.80	gold quality
thyroid gland	UBERON:0002046	75.36	gold quality
left lobe of thyroid gland	UBERON:0001120	74.83	gold quality
calcaneal tendon	UBERON:0003701	74.71	gold quality
right lobe of thyroid gland	UBERON:0001119	74.40	gold quality
placenta	UBERON:0001987	74.39	gold quality
myometrium	UBERON:0001296	73.19	gold quality
tibial nerve	UBERON:0001323	73.18	gold quality
ectocervix	UBERON:0012249	73.13	gold quality
endocervix	UBERON:0000458	73.08	gold quality
body of uterus	UBERON:0009853	72.94	gold quality
blood	UBERON:0000178	72.16	gold quality
skin of abdomen	UBERON:0001416	71.78	gold quality
mucosa of stomach	UBERON:0001199	71.65	gold quality
left coronary artery	UBERON:0001626	71.41	gold quality
vagina	UBERON:0000996	71.35	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	71.28	gold quality
uterine cervix	UBERON:0000002	71.21	gold quality
zone of skin	UBERON:0000014	71.21	gold quality
fallopian tube	UBERON:0003889	71.20	gold quality
skin of leg	UBERON:0001511	71.10	gold quality
tibial artery	UBERON:0007610	71.05	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-100618	yes	453.37
E-ANND-3	yes	2.98
E-MTAB-6678	no	3.05

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• Synleurin, a novel leucine-rich repeat protein that increases the intensity of pleiotropic cytokine and growth factor responses. (PMID:12767927)

Cross-species orthologs

0 orthologs

Paralogs (25): SLITRK3 (ENSG00000121871), LRFN3 (ENSG00000126243), LRFN1 (ENSG00000128011), SLIT2 (ENSG00000145147), LRFN2 (ENSG00000156564), LRRC38 (ENSG00000162494), SLITRK5 (ENSG00000165300), LRFN5 (ENSG00000165379), LRTM2 (ENSG00000166159), LINGO1 (ENSG00000169783), LRRN2 (ENSG00000170382), LRRN3 (ENSG00000173114), LRFN4 (ENSG00000173621), LINGO2 (ENSG00000174482), LRRN1 (ENSG00000175928), SLITRK1 (ENSG00000178235), GP5 (ENSG00000178732), SLITRK4 (ENSG00000179542), LRRC55 (ENSG00000183908), SLIT3 (ENSG00000184347), SLITRK6 (ENSG00000184564), SLITRK2 (ENSG00000185985), SLIT1 (ENSG00000187122), TLR9 (ENSG00000239732), TPBGL (ENSG00000261594)

Protein

Protein identifiers

Leucine-rich repeat-containing protein 70 — Q7Z2Q7 (reviewed: Q7Z2Q7)

Alternative names: Synleurin

All UniProt accessions (2): Q7Z2Q7, D6RD14

UniProt curated annotations — full annotation on UniProt →

Function. Renders cells highly sensitive to the activation by cytokines and lipopolysaccharide (LPS).

Subcellular location. Membrane.

Tissue specificity. Expressed at low levels in many tissues, including smooth muscle, brain, uterus, pancreas, cartilage, adipose, spleen and testis.

RefSeq proteins (1): NP_852607* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000483	Cys-rich_flank_reg_C	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR026906	LRR_5	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050328	Dev_Immune_Receptor	Family

Pfam: PF13306, PF13855

UniProt features (22 total): repeat 12, glycosylation site 4, domain 2, signal peptide 1, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7Z2Q7-F1	73.99	0.53

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 (4): 215, 266, 331, 400

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 20 (showing top): GOBP_RESPONSE_TO_PEPTIDE, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS, chr5q12, GOBP_REGULATION_OF_RESPONSE_TO_CYTOKINE_STIMULUS, MIR548L, MIR6891_5P, MIR12118, MIR3173_3P, DESCARTES_MAIN_FETAL_LYMPHATIC_ENDOTHELIAL_CELLS, DESCARTES_FETAL_ADRENAL_VASCULAR_ENDOTHELIAL_CELLS, DESCARTES_FETAL_LUNG_LYMPHATIC_ENDOTHELIAL_CELLS, NAKAYA_PBMC_FLUARIX_FLUVIRIN_AGE_18_50YO_CORRELATED_WITH_HAI_28DY_RESPONSE_AT_7DY_NEGATIVE, HOEK_MYELOID_DENDRITIC_CELL_2011_2012_TIV_ADULT_3DY_UP, HARALAMBIEVA_PBMC_M_M_R_II_AGE_11_22YO_VACCINATED_VS_UNVACCINATED_7YR_DN, TRAVAGLINI_LUNG_BASOPHIL_MAST_2_CELL

GO Biological Process (1): positive regulation of response to cytokine stimulus (GO:0060760)

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
response to cytokine	1
positive regulation of response to stimulus	1
regulation of response to cytokine stimulus	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1

Protein interactions and networks

STRING

398 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC70	IPO11	Q9UI26	847
LRRC70	RPL12	P30050	762
LRRC70	IPO5	O00410	712
LRRC70	RPL23A	P29316	712
LRRC70	UBE2E3	Q969T4	501
LRRC70	OR1B1	Q8NGR6	474
LRRC70	PDGFB	P01127	453
LRRC70	CNPPD1	Q9BV87	434
LRRC70	FGF13	Q92913	402
LRRC70	INAVA	Q3KP66	398
LRRC70	WFDC12	Q8WWY7	370
LRRC70	IGF2	P01344	365
LRRC70	FGF2	P09038	358
LRRC70	WFDC5	Q8TCV5	348
LRRC70	ZNF415	Q09FC8	348

IntAct

2 interactions, top by confidence:

A	B	Type	Score
LRRC70	H2BC9	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (3): LRRC70 (Affinity Capture-MS), HIST1H2BH (Proximity Label-MS), LRRC70 (Proximity Label-MS)

ESM2 similar proteins: A4D1F6, A4IIK1, A6H6A4, A6NIV6, A6NM36, C0STK7, D3ZXS4, F1R6I3, F6R2G2, P14605, Q09562, Q32KX5, Q38SD2, Q3TX51, Q3UHC2, Q3UV48, Q3ZC49, Q4R6F0, Q54AX5, Q58A48, Q5G5E0, Q62192, Q65YW8, Q65Z91, Q66HD6, Q6AXL3, Q6GLE8, Q6GM71, Q6R5N8, Q6ZNQ3, Q7Z2Q7, Q86X40, Q8BGI7, Q8C0R9, Q8N456, Q8VDB8, Q96DD0, Q99467, Q99MB1, Q9BYS8

Diamond homologs: A8WGA3, B1H134, B1H234, D3ZTV3, D4ABX8, F1NUK7, G5EFX6, O42235, O43155, O55226, O60938, O75093, O88279, O88280, O94769, O94991, P04629, P13224, P14770, P24014, P50608, P50609, P56400, P59383, P83503, Q04785, Q06828, Q3UHC2, Q5R6T0, Q5RAC4, Q5RI43, Q6RKD8, Q6WRH9, Q70AK3, Q7Z2Q7, Q80TR4, Q80XU8, Q810B7, Q810C1, Q8BGT1

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

192 predictions. Top by Δscore:

Variant	Effect	Δscore
5:62578903:C:G	donor_gain	0.9900
5:62579399:A:AG	acceptor_gain	0.9800
5:62579400:G:GG	acceptor_gain	0.9800
5:62579400:GCCA:G	acceptor_gain	0.9800
5:62579617:A:T	donor_gain	0.9800
5:62579485:T:TA	donor_gain	0.9600
5:62578853:T:G	donor_gain	0.9500
5:62579622:AC:A	donor_gain	0.9500
5:62579398:T:G	acceptor_gain	0.9400
5:62579400:GC:G	acceptor_gain	0.9300
5:62579400:GCC:G	acceptor_gain	0.9000
5:62579486:T:TA	donor_gain	0.9000
5:62578931:TCTTG:T	donor_loss	0.8900
5:62578932:CTTGG:C	donor_loss	0.8900
5:62578933:TTG:T	donor_loss	0.8900
5:62578934:TGGT:T	donor_loss	0.8900
5:62578935:GGTAA:G	donor_loss	0.8900
5:62578936:GT:G	donor_loss	0.8900
5:62578937:TAAGA:T	donor_loss	0.8900
5:62578938:A:C	donor_loss	0.8700
5:62578936:G:GG	donor_gain	0.8500
5:62579488:T:G	donor_gain	0.8400
5:62579619:A:AG	donor_gain	0.8400
5:62579620:G:GG	donor_gain	0.8400
5:62578850:GAGT:G	donor_gain	0.8200
5:62579397:ATAGC:A	acceptor_loss	0.7900
5:62579398:TA:T	acceptor_loss	0.7900
5:62579399:A:AC	acceptor_loss	0.7900
5:62579400:G:A	acceptor_loss	0.7900
5:62579400:GCCAA:G	acceptor_gain	0.7900

AlphaMissense

4058 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:62580519:T:A	W361R	0.991
5:62580519:T:C	W361R	0.991
5:62580521:G:C	W361C	0.987
5:62580521:G:T	W361C	0.987
5:62580427:T:C	L330P	0.980
5:62580433:T:C	L332P	0.975
5:62580427:T:A	L330H	0.971
5:62580352:T:C	L305P	0.970
5:62580136:T:C	L233P	0.969
5:62580064:T:C	L209S	0.967
5:62580443:T:A	N335K	0.967
5:62580443:T:G	N335K	0.967
5:62579920:T:C	L161S	0.966
5:62579926:T:C	L163P	0.965
5:62579992:T:A	L185H	0.965
5:62580208:T:C	L257P	0.964
5:62580433:T:A	L332Q	0.964
5:62580499:T:C	L354P	0.964
5:62580515:T:A	N359K	0.964
5:62580515:T:G	N359K	0.964
5:62580525:T:A	C363S	0.964
5:62580525:T:C	C363R	0.964
5:62580526:G:C	C363S	0.964
5:62579792:T:A	N118K	0.963
5:62579792:T:G	N118K	0.963
5:62580085:T:C	L216S	0.963
5:62580136:T:A	L233H	0.962
5:62580433:T:G	L332R	0.961
5:62579998:T:C	L187S	0.960
5:62581053:T:C	C539R	0.960

dbSNP variants (sampled 300 via entrez): RS1000732389 (5:62581740 GA>G,GAA), RS1001633149 (5:62578815 T>G), RS1002072423 (5:62578813 G>A), RS1002132219 (5:62580627 C>T), RS1003388292 (5:62579234 C>A), RS1004602264 (5:62580255 A>C,G,T), RS1005105011 (5:62577300 C>T), RS1005659200 (5:62580508 A>G), RS1006316409 (5:62578316 T>A), RS10066921 (5:62578802 A>C), RS1007159621 (5:62580300 T>A,G), RS1007497172 (5:62579951 T>C), RS1007910425 (5:62581911 C>T), RS1008116532 (5:62578919 C>T), RS1009430946 (5:62579618 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

1 associations (top):

Study	Trait	p-value
GCST007324_14	Adventurousness	1.000000e-10

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008579	risk-taking behaviour

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	affects expression	1
2-butenal	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
abrine	increases expression	1
Diethylhexyl Phthalate	decreases expression	1

Clinical trials (associated diseases)

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