LYVE1

Summary

LYVE1 (lymphatic vessel endothelial hyaluronan receptor 1, HGNC:14687) is a protein-coding gene on chromosome 11p15.4, encoding Lymphatic vessel endothelial hyaluronic acid receptor 1 (Q9Y5Y7). Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane.

This gene encodes a type I integral membrane glycoprotein. The encoded protein acts as a receptor and binds to both soluble and immobilized hyaluronan. This protein may function in lymphatic hyaluronan transport and have a role in tumor metastasis.

Source: NCBI Gene 10894 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• MANE Select transcript: NM_006691

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14687
Approved symbol	LYVE1
Name	lymphatic vessel endothelial hyaluronan receptor 1
Location	11p15.4
Locus type	gene with protein product
Status	Approved
Aliases	LYVE-1
Ensembl gene	ENSG00000133800
Ensembl biotype	protein_coding
OMIM	605702
Entrez	10894

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000256178, ENST00000438354, ENST00000529598, ENST00000531706, ENST00000860862

RefSeq mRNA: 1 — MANE Select: NM_006691 NM_006691

CCDS: CCDS7804

Canonical transcript exons

ENST00000256178 — 6 exons

Exon	Start	End
ENSE00000911018	10564203	10564374
ENSE00000988118	10556966	10559297
ENSE00002199066	10568448	10568665
ENSE00003628505	10563940	10564079
ENSE00003659800	10560495	10560800
ENSE00003685394	10559816	10559894

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 99.32.

FANTOM5 (CAGE): breadth broad, TPM avg 7.7395 / max 672.1343, expressed in 306 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
118613	2.9058	247
118614	2.5151	246
118612	0.9713	177
118616	0.9208	189
118611	0.3513	118
118615	0.0753	45

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pericardium	UBERON:0002407	99.32	gold quality
adrenal tissue	UBERON:0018303	99.23	gold quality
synovial joint	UBERON:0002217	98.37	gold quality
spleen	UBERON:0002106	96.86	gold quality
right adrenal gland cortex	UBERON:0035827	96.86	gold quality
omental fat pad	UBERON:0010414	96.63	gold quality
right adrenal gland	UBERON:0001233	96.60	gold quality
peritoneum	UBERON:0002358	96.57	gold quality
left adrenal gland	UBERON:0001234	96.18	gold quality
left adrenal gland cortex	UBERON:0035825	96.17	gold quality
adrenal gland	UBERON:0002369	96.06	gold quality
adrenal cortex	UBERON:0001235	96.04	gold quality
diaphragm	UBERON:0001103	95.63	gold quality
adipose tissue of abdominal region	UBERON:0007808	95.53	gold quality
calcaneal tendon	UBERON:0003701	95.35	gold quality
mucosa of stomach	UBERON:0001199	94.94	gold quality
left uterine tube	UBERON:0001303	94.87	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.25	gold quality
smooth muscle tissue	UBERON:0001135	93.79	gold quality
placenta	UBERON:0001987	93.59	gold quality
right coronary artery	UBERON:0001625	93.43	gold quality
left coronary artery	UBERON:0001626	93.21	gold quality
upper lobe of left lung	UBERON:0008952	93.18	gold quality
coronary artery	UBERON:0001621	93.10	gold quality
upper lobe of lung	UBERON:0008948	93.01	gold quality
lower esophagus muscularis layer	UBERON:0035833	92.93	gold quality
thoracic aorta	UBERON:0001515	92.92	gold quality
lower esophagus	UBERON:0013473	92.89	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	92.87	gold quality
ascending aorta	UBERON:0001496	92.85	gold quality

Single-cell (SCXA)

Detected in 21 experiment(s), a significant marker in 21.

Experiment	Marker?	Max mean expression
E-MTAB-10137	yes	3487.75
E-CURD-46	yes	1823.16
E-HCAD-24	yes	1764.03
E-GEOD-130473	yes	1396.93
E-MTAB-9906	yes	1376.54
E-MTAB-7407	yes	1320.35
E-MTAB-6701	yes	1317.43
E-HCAD-23	yes	1199.39
E-MTAB-8322	yes	1051.97
E-ANND-5	yes	624.02
E-HCAD-10	yes	52.84
E-MTAB-8142	yes	47.20
E-MTAB-10553	yes	46.16
E-HCAD-9	yes	17.85
E-MTAB-8410	yes	14.09

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 40)

• new approach measuring lymphangiogenesis using LYVE-1, a novel, specific lymphatic marker in breast cancer tissue (PMID:11689016)
• LYVE-1 is not exclusive to the lymph vessels (PMID:11719431)
• CRSBP-1 exhibits dual ligand (CRS-containing growth regulators (v-sis gene product and insulin-like growth factor binding protein-3, IGFBP-3) and hyaluronic acid) binding activity and plays a role in autocrine regulation of cell growth. (PMID:12912978)
• LYVE-1 does not seem to be a reliable marker for proliferating infantile hemangiomas. (PMID:16424896)
• findings indicate (1) the importance of LYVE-1, but not CD44, in regulation of HA metabolism in the maternal-fetal interface and fetal circulation, and (2) possible dual blood and lymphatic phenotypic characteristics in fetal endothelium (PMID:16569201)
• Molecular data based on gene transcriptional profiles of a 3-gene set (GPC3, LYVE1, and survivin) allow a reliable diagnosis of early hepatocellular carcinoma. (PMID:17087938)
• Intratumoral lymph vessel density marked by LYVE-1 in laryngeal carcinoma was significantly correlated with tumor infiltration and metastasis. (PMID:17144490)
• analysis of inflammation-induced uptake and degradation of the lymphatic endothelial hyaluronan receptor LYVE-1 (PMID:17884820)
• DC-sign+ CD163+ macrophages expressing hyaluronan receptor LYVE-1 are located within chorion villi of the placenta. (PMID:18078989)
• Presence of LYVE-1 in pancreatic islets and in some pancreatic endocrine tumors may suggest structure-function relationship of LYVE-1/lymphatic vessel in hormone synthesis and secretion. (PMID:18090227)
• LYVE-1 immunohistochemistry appeared to be a useful method for detecting lymphatics invaded by cancer cells, and detailed examination of the submucosa around the tumor may be important for predicting LN metastasis. (PMID:18181096)
• LYVE-1 expression and the lymphatic density of the muscularis propria are significantly greater than those of other layers of urothelium, including the epithelium, lamina propria, perivesical fat, and serosa (PMID:18342921)
• LYVE-1 is expressed in a reticulum cell neoplasm in an axillary lymph node. This reticulum cell sarcoma is a lymphatic sinus lining cell sarcoma which might represent another subtype of reticulum cell sarcomas. (PMID:18386053)
• The normal adult human choroid does not contain typical lymph vessels, but is endowed with a significant number of LYVE-1 positive macrophages. (PMID:18689706)
• complexity in the regulation of LYVE-1 function and raise the possibility that this receptor, like CD44, may become active after appropriate unmasking in vivo. (PMID:19033446)
• LYVE-1 immunostaining in some gastrointestinal carcinoids may support a structure-function relationship of lymphatic vessels/hyaluronan receptor for modulating synthesis and secretion of hormones and amines by carcinoid tumour cells. (PMID:19291537)
• LYVE-1 indicates an increase of lymphangiogenesis in colorectal carcinoma. (PMID:19742347)
• findings indicated that LYVE-1 attenuation in sinusoidal endothelium was one of the manifestations of capillarization, and was associated with hepatic disease progression (PMID:19908110)
• A study using specific markers of endothelium (CD31) and lymphatic endothelial cells (Lyve-1, Podoplanin) shows that not only angiogenesis but also lymphangiogenesis occurs within the nodule. (PMID:20011036)
• The results of this study showed that immunohistochemical staining with both the antibodies anti-podoplanin and anti-LYVE-1 detected lymph vessels in 18 of the 25 human neuroblastoma specimens. (PMID:20191305)
• Data show that the density of LYVE-1/+ capillaries in skeletal muscle was observed to decrease significantly over the time course of the exercise intervention. (PMID:20863269)
• Results suggest that LYVE-1 allows the adhesion of tumor cells through the interaction of HA on the tumor cell membrane with LYVE-1. (PMID:21291635)
• Significant correlation between LYVE-1 and Prox-1 expression was observed in non-small cell lung cancer. Expression was also correlated with lymph node metastasis. (PMID:21500548)
• these data support interdependent roles for emmprin, LYVE-1 and BCRP in chemotherapeutic resistance for PEL (PMID:21660043)
• LYVE-1, VEGFR-3 and CD44 all play an important role in lymphangiogenesis, invasion and metastasis (PMID:21912471)
• Data indicate that detection of lymphatic vascular invasion (LVI) can be optimized by specific D2-40 or LYVE-1 staining. (PMID:21974896)
• LYVE-1 may have value as predictor of outcome in neuroblastoma (PMID:22241180)
• CRSBP-1-associated fibrillar structures are identical to the ER network as evidenced by the co-localization of CRSBP-1 and BiP in these cells (PMID:22673514)
• FGF2 binds to LYVE-1 with a higher affinity than any other known LYVE-1-binding molecules, such as hyaluronan or PDGF-BB. Glycosylation of LYVE-1 is important for FGF2 binding. (PMID:23264596)
• High-low cell surface HA content of tumor cells through the interaction with LYVE-1 leads to adhesion differences. (PMID:23717428)
• High LYVE expression is associated with visceral pleural invasion and lymphatic thromboembolism in non-small-cell lung cancer. (PMID:25141859)
• High expression of LYVE-1 is associated with atherosclerotic arteries. (PMID:25318003)
• We have established a novel, three-protein biomarker panel that is able to detect patients with early-stage pancreatic cancer in urine specimens:LYVE-1, REG1A, and TFF1 were selected as candidate biomarkers (PMID:26240291)
• Data (including data from studies in knockout mice) suggest LYVE1 mediates adhesion of group A Streptococci (GAS) to lymphatic vesicular endothelium via capsular hyaluronan; this appears to be critical factor for lymphatic trafficking of GAS in vivo. (PMID:26352587)
• These results demonstrate the prerequisite of a critical LYVE-1 threshold density and show that hyaluronan binding may be elicited in lymphatic endothelium by surface clustering with divalent LYVE-1 mAbs. (PMID:26823460)
• Immunostaining analyses in psoriasis skin lesions suggested that the ectodomain shedding of LYVE-1 occurred in lymphatic vessels undergoing chronic inflammation. These results indicate that the ectodomain shedding of LYVE-1 might be involved in promoting pathological lymphangiogenesis. (PMID:26966180)
• this study shows up-regulation of LYVE-1 expression in the fetal circulation of conducting and exchange villi of HIV-infected pre-eclamptics (PMID:27529307)
• These findings reveal binding is dependent not just on clustering but also on the biochemical properties of LYVE-1 homodimers. They also mark LYVE-1 as the first Link protein superfamily member requiring covalent homodimerization for function and suggest the interchain disulfide acts as a redox switch in vivo. (PMID:27733683)
• LYVE1 expression is significantly upregulated in human masticatory mucosa during wound healing (PMID:28005267)
• Dendritic cells (DCs) docked to the basolateral surface of lymphatic vessels and transited to the lumen through hyaluronan-mediated interactions with the lymph-specific endothelial receptor LYVE-1. Targeted deletion of the gene Lyve1, antibody blockade or depletion of the DC hyaluronan coat not only delayed lymphatic trafficking of dermal DCs but also blunted their capacity to prime CD8(+) T cell responses in LNs. (PMID:28504698)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	lyve1b	ENSDARG00000062483
danio_rerio	lyve1a	ENSDARG00000075833
mus_musculus	Lyve1	ENSMUSG00000030787
rattus_norvegicus		ENSRNOG00000087179

Paralogs (1): CD44 (ENSG00000026508)

Protein

Protein identifiers

Lymphatic vessel endothelial hyaluronic acid receptor 1 — Q9Y5Y7 (reviewed: Q9Y5Y7)

Alternative names: Cell surface retention sequence-binding protein 1, Extracellular link domain-containing protein 1, Hyaluronic acid receptor

All UniProt accessions (4): B2R672, E7EPC7, Q9Y5Y7, F2Z296

UniProt curated annotations — full annotation on UniProt →

Function. Ligand-specific transporter trafficking between intracellular organelles (TGN) and the plasma membrane. Plays a role in autocrine regulation of cell growth mediated by growth regulators containing cell surface retention sequence binding (CRS). May act as a hyaluronan (HA) transporter, either mediating its uptake for catabolism within lymphatic endothelial cells themselves, or its transport into the lumen of afferent lymphatic vessels for subsequent re-uptake and degradation in lymph nodes. Binds to pericelluar hyaluronan matrices deposited on the surface of leukocytes and facilitates cell adhesion and migration through lymphatic endothelium.

Subunit / interactions. Homodimer; disulfide-linked. Interacts with PDGFB and IGFBP3. Forms a transient ternary complex with PDGFB and PDGFRB in TGN.

Subcellular location. Cell membrane.

Tissue specificity. Mainly expressed in endothelial cells lining lymphatic vessels.

Post-translational modifications. O-glycosylated.

RefSeq proteins (1): NP_006682* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000538	Link_dom	Domain
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR043210	CD44_antigen-like	Family

Pfam: PF00193

UniProt features (30 total): strand 7, sequence variant 3, sequence conflict 3, helix 3, disulfide bond 2, topological domain 2, turn 2, glycosylation site 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
8OXD	X-RAY DIFFRACTION	1.32
8OS2	X-RAY DIFFRACTION	1.64

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y5Y7-F1	68.24	0.33

Functional residue map

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

Disulfide bonds (2): 61–128, 85–106

Glycosylation sites (2): 53, 130

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-2142845	Hyaluronan metabolism
R-HSA-2160916	Hyaluronan degradation
R-HSA-1430728	Metabolism
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives

MSigDB gene sets: 156 (showing top): GOBP_POSITIVE_REGULATION_OF_CELLULAR_EXTRAVASATION, GOBP_HYALURONAN_CATABOLIC_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_LEUKOCYTE_MIGRATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, FERREIRA_EWINGS_SARCOMA_UNSTABLE_VS_STABLE_DN, GOBP_CELLULAR_EXTRAVASATION, GOBP_HYALURONAN_METABOLIC_PROCESS, GOBP_LEUKOCYTE_MIGRATION, AP1_Q4_01, GOBP_POSITIVE_REGULATION_OF_LEUKOCYTE_MIGRATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM1

GO Biological Process (8): positive regulation of cellular extravasation (GO:0002693), receptor-mediated endocytosis (GO:0006898), cell-matrix adhesion (GO:0007160), response to wounding (GO:0009611), anatomical structure morphogenesis (GO:0009653), hyaluronan catabolic process (GO:0030214), glycosaminoglycan catabolic process (GO:0006027), cell adhesion (GO:0007155)

GO Molecular Function (5): transmembrane signaling receptor activity (GO:0004888), hyaluronic acid binding (GO:0005540), signaling receptor activity (GO:0038023), cargo receptor activity (GO:0038024), protein binding (GO:0005515)

GO Cellular Component (4): plasma membrane (GO:0005886), membrane (GO:0016020), extracellular exosome (GO:0070062), cell periphery (GO:0071944)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Glycosaminoglycan metabolism	1
Hyaluronan metabolism	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
positive regulation of leukocyte migration	1
regulation of cellular extravasation	1
cellular extravasation	1
endocytosis	1
cell-substrate adhesion	1
response to stress	1
developmental process	1
anatomical structure development	1
glycosaminoglycan catabolic process	1
hyaluronan metabolic process	1
aminoglycan catabolic process	1
glycosaminoglycan metabolic process	1
cellular process	1
signaling receptor activity	1
carboxylic acid binding	1
molecular transducer activity	1
molecular_function	1
vesicle-mediated transport	1
molecular adaptor activity	1
binding	1
membrane	1
cell periphery	1
extracellular vesicle	1

Protein interactions and networks

STRING

2420 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LYVE1	FLT4	P35916	936
LYVE1	VEGFD	O43915	933
LYVE1	VEGFC	P49767	910
LYVE1	BSG	P35613	898
LYVE1	PDPN	Q86YL7	874
LYVE1	PROX1	Q92786	825
LYVE1	VCAN	P13611	807
LYVE1	PECAM1	P16284	801
LYVE1	KDR	P35968	762
LYVE1	CCL21	O00585	744
LYVE1	STAB2	Q8WWQ8	743
LYVE1	HMMR	O75330	703
LYVE1	CD44	P16070	692
LYVE1	ITGA9	Q13797	691
LYVE1	CD34	P28906	680

IntAct

69 interactions, top by confidence:

A	B	Type	Score
	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP10-8	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
LYVE1	KRTAP10-8	psi-mi:“MI:0915”(physical association)	0.560
LYVE1		psi-mi:“MI:0915”(physical association)	0.560
PIGF	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
THSD7B	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
NINJ2	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
SERP2	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
YIPF6	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
SLC41A2	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
SLC38A7	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
EMP3	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
SLC30A2	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP9-2	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
NOTCH2NLC	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-3	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
KRT34	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
CYSRT1	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
UBE2J1	LYVE1	psi-mi:“MI:0915”(physical association)	0.560
CLCN7	LYVE1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (27): KRTAP10-8 (Two-hybrid), KRTAP10-3 (Two-hybrid), LYVE1 (Two-hybrid), LYVE1 (Two-hybrid), LYVE1 (Two-hybrid), LYVE1 (Two-hybrid), SLC41A2 (Two-hybrid), EMP3 (Two-hybrid), AQP10 (Two-hybrid), THSD7B (Two-hybrid), AIG1 (Two-hybrid), PIGF (Two-hybrid), SERP2 (Two-hybrid), NRSN1 (Two-hybrid), SLC30A2 (Two-hybrid)

ESM2 similar proteins: A0A0A6YXX9, A0A1Z2R986, B8RJM0, E9Q555, E9Q612, G5E8Q8, O35664, O88393, P09258, P0DP43, P13374, P20746, P22596, P22650, P22651, P26342, P33500, P35054, P48749, P68325, Q03167, Q14CH0, Q16827, Q2TAV2, Q2YDM0, Q56A20, Q5BKX0, Q5R7R7, Q5RBQ2, Q5U228, Q68FB2, Q6NU22, Q6NU51, Q6P995, Q6S6Q5, Q6UC88, Q76B58, Q77NN4, Q7SXB3, Q8K1M8

Diamond homologs: P14745, P15379, P16070, P20944, P26051, Q05078, Q28284, Q29423, Q60522, Q6UC88, Q9Y5Y7, Q8BHC0, O14594, P13611, P55066, P81282, Q5IS41, Q62059, Q8R4Y4, Q90953, Q9ERB4, Q9NY15, A0A6I8RMG7, O08859, P03994, P07897, P07898, P13608, P16112, P55067, P74615, P98065, P98066, Q28343, Q28670, Q29011, Q61282, Q80WM4, Q80WM5, Q86UW8

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 22 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
Keratinization	5	18.6×	1e-04

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

2684 predictions. Top by Δscore:

Variant	Effect	Δscore
11:10580479:T:TA	donor_gain	1.0000
11:10580585:GGAAT:G	acceptor_gain	1.0000
11:10580586:GAAT:G	acceptor_gain	1.0000
11:10580587:AAT:A	acceptor_gain	1.0000
11:10580588:AT:A	acceptor_gain	1.0000
11:10580590:C:CC	acceptor_gain	1.0000
11:10580590:CTGG:C	acceptor_loss	1.0000
11:10581862:CTCA:C	donor_loss	1.0000
11:10581863:TCA:T	donor_loss	1.0000
11:10581864:CACCC:C	donor_loss	1.0000
11:10581865:A:T	donor_loss	1.0000
11:10581865:AC:A	donor_gain	1.0000
11:10581865:ACC:A	donor_gain	1.0000
11:10581866:C:CA	donor_loss	1.0000
11:10581866:CC:C	donor_gain	1.0000
11:10581866:CCC:C	donor_gain	1.0000
11:10581987:C:CC	acceptor_gain	1.0000
11:10591617:G:GC	acceptor_gain	1.0000
11:10601059:CCTG:C	acceptor_loss	1.0000
11:10601060:CT:C	acceptor_loss	1.0000
11:10601061:T:A	acceptor_loss	1.0000
11:10603252:C:CC	acceptor_gain	1.0000
11:10559810:CCCTA:C	donor_loss	0.9900
11:10559811:CCTA:C	donor_loss	0.9900
11:10559812:CTA:C	donor_loss	0.9900
11:10559813:TACCT:T	donor_loss	0.9900
11:10559814:A:AT	donor_loss	0.9900
11:10559815:CCTTT:C	donor_loss	0.9900
11:10560490:TTTAC:T	donor_loss	0.9900
11:10560491:TTAC:T	donor_loss	0.9900

AlphaMissense

2106 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:10564070:C:A	W89C	0.998
11:10564070:C:G	W89C	0.998
11:10564020:C:G	C106S	0.997
11:10564021:A:T	C106S	0.997
11:10564040:C:A	R99S	0.996
11:10564040:C:G	R99S	0.996
11:10564342:C:A	G40W	0.995
11:10563953:A:C	C128W	0.994
11:10563954:C:G	C128S	0.994
11:10563955:A:T	C128S	0.994
11:10564041:C:A	R99M	0.994
11:10564277:A:C	C61W	0.992
11:10564278:C:T	C61Y	0.992
11:10563954:C:T	C128Y	0.991
11:10563989:C:A	W116C	0.991
11:10563989:C:G	W116C	0.991
11:10564041:C:G	R99T	0.991
11:10564072:A:G	W89R	0.991
11:10564072:A:T	W89R	0.991
11:10564291:C:G	A57P	0.991
11:10564341:C:A	G40V	0.991
11:10564021:A:G	C106R	0.990
11:10564042:T:C	R99G	0.990
11:10564206:C:G	C85S	0.989
11:10564206:C:T	C85Y	0.989
11:10564207:A:T	C85S	0.989
11:10564278:C:G	C61S	0.989
11:10564279:A:T	C61S	0.989
11:10564074:C:T	G88D	0.987
11:10563955:A:G	C128R	0.986

dbSNP variants (sampled 300 via entrez): RS1000007875 (11:10568554 A>C), RS1000302694 (11:10570008 C>T), RS1000475780 (11:10556648 A>C), RS1000527672 (11:10557028 C>G), RS1000716275 (11:10563195 C>T), RS1001447689 (11:10566517 C>G,T), RS1001591093 (11:10563715 C>T), RS1001823747 (11:10570430 T>A), RS1002075922 (11:10557528 C>G,T), RS1002929460 (11:10558700 G>A), RS1003009773 (11:10564678 A>G,T), RS1003126145 (11:10565107 T>C), RS1003179371 (11:10560412 T>C), RS1003217566 (11:10564984 A>C), RS1003269905 (11:10565324 T>A,C)

Disease associations

OMIM: gene MIM:605702 | 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
GCST006585_1506	Blood protein levels	3.000000e-11

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression, increases methylation	3
mercuric bromide	increases expression, affects cotreatment	2
OTX015	decreases expression	1
lysophosphatidic acid	decreases reaction, increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
2-palmitoylglycerol	increases expression	1
3-(4-dimethylamino-naphthalen-1-ylmethylene)-1,3-dihydro-indol-2-one	decreases reaction, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	1
dorsomorphin	affects cotreatment, increases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cadmium	increases expression	1
Lipopolysaccharides	increases expression, affects cotreatment, decreases expression, affects response to substance	1
Oxygen	decreases expression	1
Dronabinol	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Aflatoxin B1	increases methylation	1
Okadaic Acid	increases expression	1
Copper Sulfate	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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