LRRC37A

Summary

LRRC37A (leucine rich repeat containing 37A, HGNC:29069) is a protein-coding gene on chromosome 17q21.31, encoding Leucine-rich repeat-containing protein 37A (A6NMS7).

Predicted to be located in membrane.

Source: NCBI Gene 9884 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 5 total
• MANE Select transcript: NM_014834

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29069
Approved symbol	LRRC37A
Name	leucine rich repeat containing 37A
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0563, LRRC37A1
Ensembl gene	ENSG00000176681
Ensembl biotype	protein_coding
OMIM	616555
Entrez	9884

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 retained_intron, 3 protein_coding

ENST00000320254, ENST00000393465, ENST00000496930, ENST00000705369, ENST00000705370, ENST00000705371, ENST00000705372, ENST00000705373, ENST00000705374

RefSeq mRNA: 1 — MANE Select: NM_014834 NM_014834

CCDS: CCDS11504

Canonical transcript exons

ENST00000320254 — 14 exons

Exon	Start	End
ENSE00002333139	46322322	46322393
ENSE00002353704	46295131	46297742
ENSE00002382063	46337429	46337568
ENSE00002395100	46322953	46323027
ENSE00002400673	46337296	46337350
ENSE00002413230	46328392	46328510
ENSE00002428798	46337675	46337794
ENSE00003231550	46330450	46331981
ENSE00003303880	46332552	46332656
ENSE00003364153	46335545	46335594
ENSE00003495419	46299794	46299865
ENSE00003527693	46306229	46306309
ENSE00003556220	46302638	46302709
ENSE00003596108	46305509	46305580

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 80.49.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bone marrow cell	CL:0002092	80.49	gold quality
right uterine tube	UBERON:0001302	80.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.53	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	77.52	gold quality
granulocyte	CL:0000094	77.28	gold quality
left testis	UBERON:0004533	77.14	gold quality
testis	UBERON:0000473	77.06	gold quality
skeletal muscle tissue	UBERON:0001134	76.84	gold quality
bone marrow	UBERON:0002371	76.75	gold quality
right testis	UBERON:0004534	76.67	gold quality
muscle tissue	UBERON:0002385	75.74	gold quality
blood	UBERON:0000178	74.62	gold quality
calcaneal tendon	UBERON:0003701	74.49	gold quality
right coronary artery	UBERON:0001625	74.40	gold quality
tonsil	UBERON:0002372	73.88	gold quality
colonic epithelium	UBERON:0000397	73.78	gold quality
sural nerve	UBERON:0015488	73.16	gold quality
ventricular zone	UBERON:0003053	72.83	gold quality
gastrocnemius	UBERON:0001388	72.68	gold quality
muscle of leg	UBERON:0001383	72.25	gold quality
stromal cell of endometrium	CL:0002255	72.14	gold quality
leukocyte	CL:0000738	71.82	gold quality
skin of abdomen	UBERON:0001416	71.81	gold quality
cerebellar hemisphere	UBERON:0002245	71.80	gold quality
cerebellar cortex	UBERON:0002129	71.79	gold quality
zone of skin	UBERON:0000014	71.75	gold quality
cerebellum	UBERON:0002037	71.64	gold quality
skin of leg	UBERON:0001511	71.60	gold quality
monocyte	CL:0000576	71.52	gold quality
ganglionic eminence	UBERON:0004023	71.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.69

Regulation

Is transcription factor: no

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Lrrc37	ENSMUSG00000034239
mus_musculus	Lrrc37a	ENSMUSG00000078632
rattus_norvegicus	Lrrc37a	ENSRNOG00000042025
rattus_norvegicus	Prp2l1	ENSRNOG00000042833

Paralogs (3): LRRC37A3 (ENSG00000176809), LRRC37B (ENSG00000185158), LRRC37A2 (ENSG00000238083)

Protein

Protein identifiers

Leucine-rich repeat-containing protein 37A — A6NMS7 (reviewed: A6NMS7)

All UniProt accessions (3): A6NMS7, A8MUI5, E9PP10

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the LRRC37A family.

RefSeq proteins (1): NP_055649* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR015753	LRRC37	Family
IPR029423	LRRC37AB_C	Domain
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR032754	LRRC37_N	Domain

Pfam: PF13855, PF14914, PF15779

UniProt features (52 total): sequence conflict 15, compositionally biased region 14, region of interest 11, repeat 5, topological domain 2, glycosylation site 2, signal peptide 1, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NMS7-F1	42.27	0.10

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 (2): 296, 1079

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 18 (showing top): DOUGLAS_BMI1_TARGETS_DN, MODULE_48, MODULE_95, WANG_RESPONSE_TO_GSK3_INHIBITOR_SB216763_UP, ZWANG_DOWN_BY_2ND_EGF_PULSE, MODULE_163, MTOR_UP.N4.V1_DN, IL15_UP.V1_DN, IL2_UP.V1_DN, KRAS.AMP.LUNG_UP.V1_UP, JAK2_DN.V1_DN, MODULE_9, PEREZ_TP53_TARGETS, SU_LIVER, GSE22611_NOD2_TRANSD_VS_CTRL_TRANSD_HEK293_MDP_STIM_2H_DN

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

648 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LRRC37A	KANSL1	Q7Z3B3	730
LRRC37A	ARL17B	I3L3L1	720
LRRC37A	ARL17A	Q8IVW1	714
LRRC37A	SPDYE5	A6NIY4	610
LRRC37A	CRHR1	P34998	512
LRRC37A	ARHGAP27	Q6ZUM4	507
LRRC37A	MAPT	P10636	505
LRRC37A	TCP11	Q8WWU5	496
LRRC37A	NBPF4	Q96M43	477
LRRC37A	DCAKD	Q8WVC6	451
LRRC37A	PLEKHM1	Q9Y4G2	445
LRRC37A	FLACC1	Q96Q35	444
LRRC37A	ZNF404	Q494X3	414
LRRC37A	SPPL2C	Q8IUH8	412
LRRC37A	PRPF8	Q6P2Q9	408

IntAct

2 interactions, top by confidence:

A	B	Type	Score
LRRC37A		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (6): LRRC37A (Affinity Capture-RNA), LRRC37A (Negative Genetic), LRRC37A (Negative Genetic), LRRC37A (Negative Genetic), SNCA (Affinity Capture-Western), LRRC37A (Affinity Capture-RNA)

ESM2 similar proteins: A0A1B0GUW6, A1EGX6, A6NM11, A6NMS7, A6QLF8, D3YU32, I3L273, J3KML8, O35930, O60309, Q08DY0, Q14242, Q2TBI7, Q32KG4, Q32L62, Q3MIW9, Q3TNW5, Q3V0E1, Q4R729, Q5VWK0, Q5VYM1, Q62170, Q659K0, Q68DN1, Q6AZ54, Q6MG22, Q6UXB8, Q6ZRG5, Q8BUE7, Q8K4E0, Q8N307, Q8N3K9, Q8TCU4, Q8WNU4, Q8WXI7, Q95JY5, Q96F05, Q96JA4, Q96M34, Q96M43

Diamond homologs: A6NM11, A6NMS7, O60309, Q49AS3, Q96QE4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	4
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1540 predictions. Top by Δscore:

Variant	Effect	Δscore
17:46302710:G:GG	donor_gain	1.0000
17:46305581:G:GG	donor_gain	1.0000
17:46306307:GTT:G	donor_gain	1.0000
17:46322394:G:GG	donor_gain	1.0000
17:46323024:AACT:A	donor_gain	1.0000
17:46323025:ACT:A	donor_gain	1.0000
17:46323026:CT:C	donor_gain	1.0000
17:46323028:G:GG	donor_gain	1.0000
17:46328508:GTC:G	donor_gain	1.0000
17:46328511:G:GG	donor_gain	1.0000
17:46328545:T:G	donor_gain	1.0000
17:46328545:T:TG	donor_gain	1.0000
17:46335542:CA:C	acceptor_loss	1.0000
17:46335544:GAT:G	acceptor_gain	1.0000
17:46335544:GATAT:G	acceptor_gain	1.0000
17:46335595:GT:G	donor_loss	1.0000
17:46335596:T:G	donor_loss	1.0000
17:46337424:TCTA:T	acceptor_loss	1.0000
17:46337425:CTAG:C	acceptor_loss	1.0000
17:46337426:TAGG:T	acceptor_loss	1.0000
17:46337427:A:AG	acceptor_gain	1.0000
17:46337427:AG:A	acceptor_gain	1.0000
17:46337427:AGGAT:A	acceptor_gain	1.0000
17:46337428:G:A	acceptor_gain	1.0000
17:46337428:G:GA	acceptor_gain	1.0000
17:46337428:GGA:G	acceptor_gain	1.0000
17:46337428:GGAT:G	acceptor_gain	1.0000
17:46337428:GGATG:G	acceptor_gain	1.0000
17:46337561:GACCC:G	donor_gain	1.0000
17:46299793:GAA:G	acceptor_gain	0.9900

AlphaMissense

11072 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:46302653:T:A	N899K	0.991
17:46302653:T:G	N899K	0.991
17:46302652:A:T	N899I	0.989
17:46302658:T:C	L901S	0.987
17:46305529:T:C	I925T	0.987
17:46299809:C:A	N875K	0.986
17:46299809:C:G	N875K	0.986
17:46302667:T:C	L904S	0.985
17:46305523:A:T	N923I	0.985
17:46305524:T:A	N923K	0.985
17:46305524:T:G	N923K	0.985
17:46299865:T:C	L894P	0.984
17:46305529:T:A	I925K	0.983
17:46299799:T:C	F872S	0.981
17:46306244:T:A	N947K	0.981
17:46306244:T:G	N947K	0.981
17:46323027:T:C	L1018P	0.979
17:46299837:T:A	W885R	0.978
17:46299837:T:C	W885R	0.978
17:46302643:T:C	L896P	0.978
17:46306234:T:C	L944P	0.978
17:46305529:T:G	I925R	0.977
17:46299839:G:C	W885C	0.976
17:46299839:G:T	W885C	0.976
17:46299808:A:T	N875I	0.975
17:46302651:A:C	N899H	0.975
17:46302652:A:C	N899T	0.973
17:46297660:T:A	C843S	0.971
17:46297661:G:C	C843S	0.971
17:46299814:T:C	I877T	0.970

dbSNP variants (sampled 300 via entrez): RS1000121054 (17:46262831 G>C,T), RS1000194431 (17:46279679 A>T), RS1000288114 (17:46260939 C>A,G), RS1000424148 (17:46286396 G>A,T), RS1000586772 (17:46265016 G>A), RS1000725003 (17:46260790 A>G), RS1000760940 (17:46289815 AT>A), RS1000796429 (17:46277033 G>A,T), RS1000862489 (17:46274378 T>C), RS1001148495 (17:46277848 T>C), RS1001206773 (17:46308964 A>G), RS1001506396 (17:46274178 G>A,C), RS1001511936 (17:46253530 C>A,T), RS1001542841 (17:46253339 G>C), RS1001638104 (17:46311013 T>G)

Disease associations

OMIM: gene MIM:616555 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST004077_12	Cognitive function	7.000000e-07
GCST007592_2	Handedness (Left-handed vs. non-left-handed)	1.000000e-09
GCST007594_2	Handedness (Right-handed vs. non-right-handed)	2.000000e-08
GCST010083_12	Hemoglobin levels	1.000000e-11
GCST010083_340	Hemoglobin levels	2.000000e-50
GCST010135_31	Oily fish consumption	5.000000e-09
GCST010140_21	Pork consumption	5.000000e-09
GCST010703_91	Brain morphology (MOSTest)	2.000000e-65
GCST010771_5	Osteoarthrosis (time to event)	4.000000e-08

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0009902	handedness
EFO:0004509	hemoglobin measurement
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0004918	age at diagnosis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
triphenyl phosphate	affects expression	1
Doxorubicin	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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