CLEC4G

Summary

CLEC4G (C-type lectin domain family 4 member G, HGNC:24591) is a protein-coding gene on chromosome 19p13.2, encoding C-type lectin domain family 4 member G (Q6UXB4). Binds mannose, N-acetylglucosamine (GlcNAc) and fucose, but not galactose, in a Ca(2+)-dependent manner, in vitro.

This gene encodes a glycan-binding receptor and member of the C-type lectin family which plays a role in the immune response. C-type lectin receptors are pattern recognition receptors located on immune cells that play a role in the recognition and uptake of both self and non-self glycoproteins as well as mediating cell adhesion, glycoprotein clearance, and cell signaling functions. This gene’s protein binds complex-type N-glycans of the viral envelope proteins of Ebola virus, West Nile filovirus, and SARS coronavirus, but not HIV or hepatitis C virus. In mouse, this protein has been shown to recognize activated T-cells and to negatively regulate T-cell receptor-mediated signalling. It also acts as a novel, liver-specific regulator of NK cell-mediated immunity in mouse. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 339390 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 26 total
• MANE Select transcript: NM_198492

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24591
Approved symbol	CLEC4G
Name	C-type lectin domain family 4 member G
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	UNQ431, LSECTIN
Ensembl gene	ENSG00000182566
Ensembl biotype	protein_coding
OMIM	616256
Entrez	339390

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron

ENST00000328853, ENST00000598081, ENST00000599020, ENST00000676742, ENST00000678118

RefSeq mRNA: 2 — MANE Select: NM_198492 NM_001244856, NM_198492

CCDS: CCDS12185

Canonical transcript exons

ENST00000328853 — 9 exons

Exon	Start	End
ENSE00001290133	7730019	7730167
ENSE00001318711	7729821	7729936
ENSE00001327071	7730351	7730440
ENSE00001649761	7731266	7731319
ENSE00001712643	7731026	7731088
ENSE00001742932	7730755	7730859
ENSE00003581623	7731661	7731771
ENSE00003932968	7728957	7729504
ENSE00003934895	7732048	7732110

Expression profiles

Bgee: expression breadth ubiquitous, 126 present calls, max score 89.75.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1982 / max 31.2904, expressed in 69 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178887	0.0623	18
178883	0.0592	35
178884	0.0299	14
178886	0.0271	11
208678	0.0197	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	89.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.59	gold quality
liver	UBERON:0002107	89.05	gold quality
right hemisphere of cerebellum	UBERON:0014890	83.67	gold quality
cerebellar hemisphere	UBERON:0002245	83.49	gold quality
lymph node	UBERON:0000029	83.44	gold quality
cerebellar cortex	UBERON:0002129	83.34	gold quality
cerebellum	UBERON:0002037	83.29	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.24	gold quality
apex of heart	UBERON:0002098	74.84	gold quality
right coronary artery	UBERON:0001625	74.36	gold quality
leukocyte	CL:0000738	74.03	gold quality
monocyte	CL:0000576	73.88	gold quality
right adrenal gland cortex	UBERON:0035827	71.94	gold quality
omental fat pad	UBERON:0010414	71.84	gold quality
mucosa of stomach	UBERON:0001199	71.79	gold quality
Ammon’s horn	UBERON:0001954	71.71	gold quality
granulocyte	CL:0000094	71.32	gold quality
adipose tissue	UBERON:0001013	71.09	gold quality
right adrenal gland	UBERON:0001233	70.76	gold quality
prefrontal cortex	UBERON:0000451	70.56	gold quality
subcutaneous adipose tissue	UBERON:0002190	70.39	gold quality
frontal cortex	UBERON:0001870	70.27	gold quality
right frontal lobe	UBERON:0002810	69.85	gold quality
Brodmann (1909) area 9	UBERON:0013540	69.84	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	69.81	gold quality
anterior cingulate cortex	UBERON:0009835	69.51	gold quality
cerebral cortex	UBERON:0000956	69.49	gold quality
left adrenal gland cortex	UBERON:0035825	69.20	gold quality
left adrenal gland	UBERON:0001234	69.19	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-MTAB-10553	yes	1916.94
E-CURD-122	yes	828.91
E-HCAD-9	yes	26.23
E-ANND-3	no	2.05

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYB, RUNX3, SPI1

miRNA regulators (miRDB)

31 targeting CLEC4G, 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-4492	99.87	68.25	3611
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-762	99.58	66.61	1994
HSA-MIR-3147	99.52	66.34	388
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-5001-5P	99.05	66.76	1972
HSA-MIR-6760-5P	98.87	66.73	1515
HSA-MIR-4443	98.02	66.25	1928
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-7847-3P	96.63	64.58	952
HSA-MIR-4653-3P	96.26	67.03	725
HSA-MIR-1258	96.08	67.74	700
HSA-MIR-6813-3P	95.78	63.78	540
HSA-MIR-6874-5P	95.73	64.94	545
HSA-MIR-3162-5P	95.67	67.53	794
HSA-MIR-12115	94.19	66.37	738
HSA-MIR-4633-3P	93.85	63.56	534
HSA-MIR-6500-5P	93.85	63.64	522
HSA-MIR-4520-5P	93.54	65.23	140

Literature-anchored findings (GeneRIF, showing 14)

• results indicate that LSECtin is a novel member of a family of proteins comprising CD23, DC-SIGN, and DC-SIGNR and might function in vivo as a lectin receptor (PMID:14711836)
• LSECtin is a pathogen-associated molecular pattern receptor in human myeloid cells; results suggest that LSECtin participates in antigen uptake and internalization (PMID:17339424)
• Our results reveal important differences between Ebola virus and HIV-1 capture by DC-SIGN/R and LSECtin and hint towards different biological functions of these lectins. (PMID:18083206)
• LSECtin is expressed by liver myeloid cells, and its expression is dependent on the PU.1 transcription factor. (PMID:19111020)
• Liver sinusoidal endothelial cell lectin, LSECtin, negatively regulates hepatic T-cell immune response. (PMID:19632227)
• The interaction between CD44 & LSECtin is dependent on protein-glycan recognition. CD44 is the 1st identified endogenous ligand of LSECtin, & similarly, LSECtin is a novel ligand of CD44. (PMID:20127679)
• The human LSECtin have been shown to bind Ebola virus glycoprotein with equivalent affinities, and the GlcNAcbeta1-2Man disaccharide has been demonstrated to be an effective inhibitor of this interaction. (PMID:21257728)
• Axl,Tyro3,DC-SIGN and LSECtin are identified as new virus receptors for Lassa virus cell entry. (PMID:22156524)
• The results indicate that LSECtin plays an important role in colorectal carcinoma liver metastasis and may be a promising new target for intervention in metastasis formation. (PMID:22637699)
• The mobility of LSECtin-carbohydrate recognition domain increased after addition of Ca(2+) and N-acetylglucosamine. (PMID:22711492)
• Japanese encephalitis virus infected cells through three virus receptors: DC-SIGN, DC-SIGNR and LSECtin. (PMID:24623090)
• Macrophage-specific ablation of LSECtin in breast cancer cells decreased cancer stem cell frequency and tumor growth. Disruption of the LSECtin-BTN3A3 axis with BTN3A3-Fc or anti-BTN3A3 monoclonal antibodies has a therapeutic effect on breast cancer. (PMID:30858559)
• C-type Lectin Domain Family 4 Member G (CLEC4G) Is a Negative Marker for CD34 in the Evolution of Liver Pathogenesis. (PMID:37625828)
• Reduced Expression of CLEC4G in Neurons Is Associated with Alzheimer’s Disease. (PMID:38731839)

Cross-species orthologs

22 orthologs

Organism	Symbol	Gene ID
danio_rerio	asgr1c.2	ENSDARG00000046092
danio_rerio	asgrl1	ENSDARG00000046142
danio_rerio	si:dkey-61f9.1	ENSDARG00000070414
danio_rerio	asgr1a	ENSDARG00000095963
danio_rerio	si:cabz01007816.2	ENSDARG00000102537
danio_rerio	asgr1b	ENSDARG00000103480
danio_rerio	si:ch211-283g2.5	ENSDARG00000108953
danio_rerio		ENSDARG00000111755
danio_rerio		ENSDARG00000112842
mus_musculus	Clec4g	ENSMUSG00000074491
rattus_norvegicus	Clec4g	ENSRNOG00000054013
drosophila_melanogaster	tfc	FBGN0035199
drosophila_melanogaster	CG14866	FBGN0038315
drosophila_melanogaster	lectin-46Cb	FBGN0040092
drosophila_melanogaster	lectin-46Ca	FBGN0040093
drosophila_melanogaster	lectin-33A	FBGN0040096
drosophila_melanogaster	CG34033	FBGN0054033
caenorhabditis_elegans	clec-87	WBGENE00007709
caenorhabditis_elegans	clec-91	WBGENE00014117
caenorhabditis_elegans		WBGENE00016088
caenorhabditis_elegans		WBGENE00018692
caenorhabditis_elegans		WBGENE00019606

Paralogs (14): CD209 (ENSG00000090659), FCER2 (ENSG00000104921), CLEC4M (ENSG00000104938), CLEC4A (ENSG00000111729), CD207 (ENSG00000116031), CLEC10A (ENSG00000132514), ASGR1 (ENSG00000141505), CLEC4F (ENSG00000152672), ASGR2 (ENSG00000161944), CLEC4E (ENSG00000166523), CLEC4D (ENSG00000166527), CLEC17A (ENSG00000187912), CLEC4C (ENSG00000198178), CLEC6A (ENSG00000205846)

Protein

Protein identifiers

C-type lectin domain family 4 member G — Q6UXB4 (reviewed: Q6UXB4)

Alternative names: Liver and lymph node sinusoidal endothelial cell C-type lectin

All UniProt accessions (5): Q6UXB4, A0A7I2V4C7, A0A7I2V4U5, M0R277, Q08G24

UniProt curated annotations — full annotation on UniProt →

Function. Binds mannose, N-acetylglucosamine (GlcNAc) and fucose, but not galactose, in a Ca(2+)-dependent manner, in vitro. (Microbial infection) Acts as a receptor for Japanese encephalitis virus. (Microbial infection) Acts as a receptor for Ebolavirus. (Microbial infection) Acts as a receptor for SARS-CoV. (Microbial infection) Acts as a receptor for Lassa virus and Lymphocytic choriomeningitis virus glycoprotein.

Subunit / interactions. (Microbial infection) Interacts with Japanese encephalitis virus envelope protein E. (Microbial infection) Interacts with ebolavirus glycoprotein. (Microbial infection) Interacts with SARS-CoV spike glycoprotein. (Microbial infection) Interacts with lassa virus and Lymphocytic choriomeningitis virus glycoprotein.

Subcellular location. Cell membrane.

Tissue specificity. Expressed exclusively in fetal and adult liver and in lymph nodes. Specifically expressed by endothelial cells lining lymph node and liver sinuses (at protein level).

RefSeq proteins (2): NP_001231785, NP_940894* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001304	C-type_lectin-like	Domain
IPR016186	C-type_lectin-like/link_sf	Homologous_superfamily
IPR016187	CTDL_fold	Homologous_superfamily
IPR018378	C-type_lectin_CS	Conserved_site
IPR050111	C-type_lectin/snaclec_domain	Family

Pfam: PF00059

UniProt features (10 total): topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, domain 1, coiled-coil region 1, modified residue 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UXB4-F1	89.39	0.81

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): 12

Disulfide bonds (1): 264–278

Glycosylation sites (2): 73, 159

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-198933	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

MSigDB gene sets: 136 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, BENPORATH_ES_WITH_H3K27ME3, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_MEDIATED_IMMUNITY, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOCC_CELL_SURFACE, GOBP_NEGATIVE_REGULATION_OF_CELL_CELL_ADHESION, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_CELL_CELL_ADHESION

GO Biological Process (10): T cell mediated immunity (GO:0002456), negative regulation of T cell mediated immunity (GO:0002710), immune response (GO:0006955), immature T cell proliferation in thymus (GO:0033080), negative regulation of immature T cell proliferation in thymus (GO:0033088), alpha-beta T cell proliferation (GO:0046633), negative regulation of alpha-beta T cell proliferation (GO:0046642), symbiont entry into host cell (GO:0046718), positive regulation of viral life cycle (GO:1903902), negative regulation of T cell proliferation (GO:0042130)

GO Molecular Function (11): virus receptor activity (GO:0001618), D-mannose binding (GO:0005537), carbohydrate binding (GO:0030246), polysaccharide binding (GO:0030247), pattern recognition receptor activity (GO:0038187), fructose binding (GO:0070061), carbohydrate derivative binding (GO:0097367), virus coreceptor activity (GO:0120274), glycosylated region protein binding (GO:0140081), transmembrane signaling receptor activity (GO:0004888), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), external side of plasma membrane (GO:0009897), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Adaptive Immune System	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	3
T cell proliferation	2
viral life cycle	2
symbiont entry into host cell	2
exogenous protein binding	2
monosaccharide binding	2
signaling receptor activity	2
lymphocyte mediated immunity	1
adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	1
T cell mediated immunity	1
negative regulation of lymphocyte mediated immunity	1
regulation of T cell mediated immunity	1
negative regulation of adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains	1
immune system process	1
response to stimulus	1
T cell differentiation in thymus	1
immature T cell proliferation	1
immature T cell proliferation in thymus	1
regulation of immature T cell proliferation in thymus	1
negative regulation of T cell differentiation in thymus	1
negative regulation of immature T cell proliferation	1
alpha-beta T cell activation	1
negative regulation of T cell proliferation	1
alpha-beta T cell proliferation	1
negative regulation of alpha-beta T cell activation	1
regulation of alpha-beta T cell proliferation	1
symbiont entry into host	1
positive regulation of viral process	1
regulation of viral life cycle	1
regulation of T cell proliferation	1
negative regulation of lymphocyte proliferation	1
negative regulation of T cell activation	1
carbohydrate binding	1
protein binding	1
carbohydrate derivative binding	1
membrane	1
cell periphery	1
plasma membrane	1
cell surface	1
side of membrane	1

Protein interactions and networks

STRING

728 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CLEC4G	LAG3	P18627	992
CLEC4G	CD44	P16070	957
CLEC4G	BTN3A3	O00478	824
CLEC4G	CLEC1B	Q9P126	720
CLEC4G	GTPBP1	O00178	701
CLEC4G	FGL1	Q08830	668
CLEC4G	HAVCR2	Q8TDQ0	629
CLEC4G	TIGIT	Q495A1	607
CLEC4G	CLEC1A	Q8NC01	595
CLEC4G	CTLA4	P16410	582
CLEC4G	LDLRAD3	Q86YD5	557
CLEC4G	LYVE1	Q9Y5Y7	534
CLEC4G	GP2	P55259	531
CLEC4G	LGALS3	P17931	527
CLEC4G	BTLA	Q7Z6A9	525

IntAct

52 interactions, top by confidence:

A	B	Type	Score
MTOR	CLEC4G	psi-mi:“MI:0915”(physical association)	0.580
PTPN5	CLEC4G	psi-mi:“MI:0915”(physical association)	0.560
FAM209A	CLEC4G	psi-mi:“MI:0915”(physical association)	0.560
CLEC4G	SIGLEC12	psi-mi:“MI:0915”(physical association)	0.560
CLEC4G	LRRC4C	psi-mi:“MI:0915”(physical association)	0.560
ARL13B	CLEC4G	psi-mi:“MI:0915”(physical association)	0.560
EBAG9	CLEC4G	psi-mi:“MI:0915”(physical association)	0.560
CLEC4G	CPLX4	psi-mi:“MI:0915”(physical association)	0.560
CLEC4G	IFI35	psi-mi:“MI:0915”(physical association)	0.540
IFI35	CLEC4G	psi-mi:“MI:0915”(physical association)	0.540
EIF3I	CLEC4G	psi-mi:“MI:0915”(physical association)	0.540
IFI35	CLEC4G	psi-mi:“MI:0403”(colocalization)	0.540
EIF3I	CLEC4G	psi-mi:“MI:0403”(colocalization)	0.540
CLEC4G	ARPC1B	psi-mi:“MI:0914”(association)	0.350
CLEC4G	IRS4	psi-mi:“MI:0914”(association)	0.350
CLEC4G	UNC45B	psi-mi:“MI:0914”(association)	0.350
CLEC4G	RNF7	psi-mi:“MI:0915”(physical association)	0.000
MT-CO1	CLEC4G	psi-mi:“MI:0915”(physical association)	0.000
RPSA	CLEC4G	psi-mi:“MI:0915”(physical association)	0.000
ASGR1	CLEC4G	psi-mi:“MI:0915”(physical association)	0.000
CPN1	CLEC4G	psi-mi:“MI:0915”(physical association)	0.000
EIF3I	CLEC4G	psi-mi:“MI:0915”(physical association)	0.000
CLEC4G	IFI35	psi-mi:“MI:0915”(physical association)	0.000
CLEC4G	EIF6	psi-mi:“MI:0915”(physical association)	0.000
CLEC4G	PRDX1	psi-mi:“MI:0915”(physical association)	0.000
CLEC4G	SHBG	psi-mi:“MI:0915”(physical association)	0.000
APOH	CLEC4G	psi-mi:“MI:0915”(physical association)	0.000
CLEC4G	APOA1	psi-mi:“MI:0915”(physical association)	0.000
ARSA	CLEC4G	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (37): CLEC4G (Two-hybrid), CLEC4G (Two-hybrid), CLEC4G (Two-hybrid), CLEC4G (Two-hybrid), CLEC4G (Two-hybrid), CLEC4G (Two-hybrid), SIGLEC12 (Two-hybrid), CLEC4G (Reconstituted Complex), FBXO28 (Affinity Capture-MS), UNC45B (Affinity Capture-MS), CLEC4G (Affinity Capture-Western), CLEC4G (Reconstituted Complex), S (Reconstituted Complex), CLEC4G (Reconstituted Complex), CLEC4G (Two-hybrid)

ESM2 similar proteins: A4IFI1, A5A8Y8, D4AB34, E9PY61, O88200, O88201, O95153, P13727, P51693, P55068, P56722, Q03157, Q16849, Q28062, Q3UY90, Q505J3, Q5RKR3, Q5SZI1, Q60673, Q61361, Q63259, Q6GUQ1, Q6PGN1, Q6PRD1, Q6RUU0, Q6UXB4, Q6UXK2, Q766D5, Q76KP1, Q7TNF8, Q80VJ8, Q80XH4, Q8C0R7, Q8CG70, Q8IVL6, Q8K099, Q8K1S7, Q8NCW0, Q8WUT4, Q91V98

Diamond homologs: C0HKZ6, D3W0D1, D3ZWT9, O70156, P02706, P07307, P08290, P0C7M8, P0C7M9, P10716, P20693, P23806, P27471, P27811, P27812, P27814, P34927, P49300, P49301, P70194, P78380, P79391, Q0H8B9, Q0ZCA7, Q0ZUP0, Q0ZUP1, Q13241, Q149M0, Q28768, Q3LUH2, Q49BZ4, Q5NKN2, Q5NKN4, Q60654, Q67EQ1, Q6QLQ4, Q6UXB4, Q6ZS10, Q7LZ71, Q80ZC8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	23
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1189 predictions. Top by Δscore:

Variant	Effect	Δscore
19:7729933:AGCCC:A	acceptor_loss	1.0000
19:7729935:CC:C	acceptor_gain	1.0000
19:7729936:CC:C	acceptor_gain	1.0000
19:7729936:CCTAG:C	acceptor_loss	1.0000
19:7729937:CTAGA:C	acceptor_loss	1.0000
19:7730015:GCAC:G	donor_loss	1.0000
19:7730017:A:AG	donor_loss	1.0000
19:7730349:A:AC	donor_gain	1.0000
19:7730350:C:CC	donor_gain	1.0000
19:7730350:CTGTT:C	donor_gain	1.0000
19:7729505:C:CC	acceptor_gain	0.9900
19:7729815:CCTCA:C	donor_loss	0.9900
19:7729816:CTCA:C	donor_loss	0.9900
19:7729817:TCA:T	donor_loss	0.9900
19:7729818:CA:C	donor_loss	0.9900
19:7729819:AC:A	donor_loss	0.9900
19:7729820:CCTGA:C	donor_loss	0.9900
19:7729934:GCC:G	acceptor_gain	0.9900
19:7729935:CCC:C	acceptor_gain	0.9900
19:7729937:C:CC	acceptor_gain	0.9900
19:7729938:T:A	acceptor_loss	0.9900
19:7730018:CCTG:C	donor_gain	0.9900
19:7730166:GT:G	acceptor_gain	0.9900
19:7730168:C:CC	acceptor_gain	0.9900
19:7730365:ACGG:A	donor_gain	0.9900
19:7730366:CGGC:C	donor_gain	0.9900
19:7730439:CA:C	acceptor_gain	0.9900
19:7730441:C:CC	acceptor_gain	0.9900
19:7730754:CCGCG:C	donor_gain	0.9900
19:7730784:T:A	donor_gain	0.9900

AlphaMissense

1902 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:7729498:C:A	W250C	0.995
19:7729498:C:G	W250C	0.995
19:7729429:C:A	W273C	0.994
19:7729429:C:G	W273C	0.994
19:7729847:C:A	W239C	0.993
19:7729847:C:G	W239C	0.993
19:7730088:C:A	W186C	0.990
19:7730088:C:G	W186C	0.990
19:7729431:A:G	W273R	0.989
19:7729431:A:T	W273R	0.989
19:7729898:C:A	W222C	0.984
19:7729898:C:G	W222C	0.984
19:7729931:G:C	F211L	0.984
19:7729931:G:T	F211L	0.984
19:7729933:A:G	F211L	0.984
19:7729500:A:G	W250R	0.982
19:7729500:A:T	W250R	0.982
19:7730139:C:A	W169C	0.978
19:7730139:C:G	W169C	0.978
19:7729388:C:G	C287S	0.973
19:7729389:A:T	C287S	0.973
19:7729849:A:G	W239R	0.973
19:7729849:A:T	W239R	0.973
19:7730068:C:G	C193S	0.973
19:7730069:A:T	C193S	0.973
19:7729430:C:G	W273S	0.972
19:7729457:C:G	C264S	0.972
19:7729458:A:T	C264S	0.972
19:7729388:C:T	C287Y	0.971
19:7729823:G:C	F247L	0.970

dbSNP variants (sampled 300 via entrez): RS1000247631 (19:7728891 G>C), RS1000342006 (19:7728690 C>T), RS1000455866 (19:7734070 A>T), RS1000620997 (19:7729470 C>T), RS1000909794 (19:7734016 C>T), RS1001253846 (19:7729973 C>T), RS1001278110 (19:7731469 G>A), RS1001555688 (19:7730738 T>G), RS1002285656 (19:7730416 C>A,T), RS1002351170 (19:7731048 C>A,T), RS1003262912 (19:7732449 C>A,G,T), RS1003357726 (19:7732213 A>T), RS1004589216 (19:7733817 TAAA>T,TAA,TAAAA), RS1004646522 (19:7733982 A>G), RS1005297246 (19:7729140 T>C,G)

Disease associations

OMIM: gene MIM:616256 | 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
GCST003262_332	Post bronchodilator FEV1	2.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004314	forced expiratory volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation	1
Methotrexate	decreases expression	1
Nickel	increases expression	1
Perfume	increases expression	1
Rotenone	increases expression	1
Valproic Acid	increases methylation	1
1-Methyl-4-phenylpyridinium	increases expression	1

Clinical trials (associated diseases)

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