DCBLD2

Summary

DCBLD2 (discoidin, CUB and LCCL domain containing 2, HGNC:24627) is a protein-coding gene on chromosome 3q12.1, encoding Discoidin, CUB and LCCL domain-containing protein 2 (Q96PD2).

Predicted to enable signaling receptor activity. Involved in negative regulation of cell growth and wound healing. Located in cell surface and plasma membrane.

Source: NCBI Gene 131566 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 117 total
• MANE Select transcript: NM_080927

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24627
Approved symbol	DCBLD2
Name	discoidin, CUB and LCCL domain containing 2
Location	3q12.1
Locus type	gene with protein product
Status	Approved
Aliases	CLCP1, ESDN
Ensembl gene	ENSG00000057019
Ensembl biotype	protein_coding
OMIM	608698
Entrez	131566

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 8 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000326840, ENST00000326857, ENST00000449482, ENST00000460008, ENST00000469648, ENST00000470393, ENST00000479144, ENST00000486004, ENST00000494614, ENST00000496736, ENST00000881287, ENST00000926048, ENST00000926049, ENST00000926050, ENST00000946562

RefSeq mRNA: 1 — MANE Select: NM_080927 NM_080927

CCDS: CCDS46878

Canonical transcript exons

ENST00000326840 — 16 exons

Exon	Start	End
ENSE00001014380	98820248	98820288
ENSE00001210562	98822228	98822361
ENSE00001230387	98819202	98819417
ENSE00001428922	98901122	98901695
ENSE00001761216	98795941	98799841
ENSE00002409224	98801600	98801649
ENSE00003466423	98881540	98881767
ENSE00003477429	98812332	98812482
ENSE00003479051	98808081	98808174
ENSE00003520729	98817769	98817893
ENSE00003542703	98800579	98800716
ENSE00003553252	98825315	98825366
ENSE00003578354	98811194	98811319
ENSE00003640211	98822669	98822741
ENSE00003651912	98811468	98811554
ENSE00003690891	98849461	98849598

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 97.06.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 92.9217 / max 1294.1394, expressed in 1702 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43438	83.7605	1696
43436	2.5693	553
43437	1.7277	565
43419	0.9680	371
43398	0.5374	244
43414	0.5080	232
43418	0.4586	207
43420	0.4020	178
43415	0.3950	176
43403	0.2937	132

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	97.06	gold quality
vena cava	UBERON:0004087	96.47	gold quality
parotid gland	UBERON:0001831	92.73	gold quality
body of tongue	UBERON:0011876	92.34	gold quality
synovial joint	UBERON:0002217	91.99	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	91.72	gold quality
cardia of stomach	UBERON:0001162	91.64	gold quality
pons	UBERON:0000988	91.47	silver quality
mucosa of paranasal sinus	UBERON:0005030	91.20	gold quality
pylorus	UBERON:0001166	90.58	gold quality
saphenous vein	UBERON:0007318	90.43	gold quality
pharyngeal mucosa	UBERON:0000355	90.32	gold quality
decidua	UBERON:0002450	90.32	gold quality
pericardium	UBERON:0002407	90.31	gold quality
subthalamic nucleus	UBERON:0001906	89.82	silver quality
adrenal tissue	UBERON:0018303	89.72	gold quality
tendon of biceps brachii	UBERON:0008188	89.52	gold quality
endometrium	UBERON:0001295	89.35	gold quality
heart right ventricle	UBERON:0002080	89.32	gold quality
lateral globus pallidus	UBERON:0002476	89.29	gold quality
ventral tegmental area	UBERON:0002691	89.21	gold quality
colonic epithelium	UBERON:0000397	89.14	gold quality
pigmented layer of retina	UBERON:0001782	89.14	gold quality
nipple	UBERON:0002030	89.14	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.96	gold quality
bronchial epithelial cell	CL:0002328	88.67	gold quality
superior vestibular nucleus	UBERON:0007227	88.60	gold quality
tendon	UBERON:0000043	88.54	gold quality
tongue	UBERON:0001723	88.50	gold quality
ovary	UBERON:0000992	88.40	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8495	yes	345.47
E-ANND-3	yes	17.43
E-GEOD-124858	no	3185.39
E-GEOD-86618	no	1619.17

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TFAP2A

miRNA regulators (miRDB)

269 targeting DCBLD2, 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-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-19A-3P	99.98	75.33	2762

Literature-anchored findings (GeneRIF, showing 21)

• our study is the first to identify and validate Endofin, DCBLD2, and KIAA0582 as part of a complex EGF phosphotyrosine signaling network (PMID:17570516)
• ESDN expression was significantly higher in proliferating, as compared to growth-arrested cells. ESDN overexpression in VSMC led to a decline in growth curves, while ESDN knock down had the opposite effect. (PMID:17697260)
• These data suggest that down-regulation of DCBLD2, often associated with promoter hypermethylation, is a frequent event that may be related to the development of gastric cancer. (PMID:18314483)
• ESDN modulates PDGF signaling in VSMCs via regulation of PDGFR beta surface levels. (PMID:19696027)
• The full-length signal peptides of DCBLD2 is functional and furthermore that the C-domains are sufficient and essential for ER targeting, whereas the N-domains are dispensable. Thus, the N-domains are available for additional functions. (PMID:21183991)
• These findings suggest that DCBLD2 could be a potential marker and drug target for treatment of nasal polyposis in Korean asthma patients. (PMID:22261696)
• Seven SNPs (rs1371687, rs7615856, rs828621, rs828618, rs828616, rs1062196, and rs8833) and one haplotype (DCBLD2-ht1) show associations with susceptibility to AERD. (PMID:22468095)
• ESDN and AP-2g expression is lower in thick melanomas, it is associated with unfavourable histo-pathological parameters (increased vascularity, vascular invasion and mitoses) and correlates with a shorter DFS like for AP-2a. (PMID:23036739)
• SFK activity was shown to be sufficient, but not required for the interaction between ESDN and the CrkL-SH2 domain (PMID:23770091)
• ESDN associates with VEGFR-2 and regulates its complex formation with negative regulators of VEGF signaling, protein tyrosine phosphatases PTP1B and TC-PTP, and VE-cadherin. (PMID:24177422)
• DCBLD2 protein expression profiles were compared between 11 invasive and non-invasive myxofibrosarcomas. Higher DCBLD2 expression was significantly associated with invasive properties of tumor cells. The expression level of DCBLD2 was consistent in different portions of tumor tissues. (PMID:28668639)
• Dynamic multi-site phosphorylation by Fyn and Abl drives the interaction between CRKL and the novel scaffolding receptors DCBLD1 and DCBLD2. (PMID:29025973)
• The DCBLD receptor family: emerging signaling roles in development, homeostasis and disease. (PMID:30902898)
• Association of DCBLD2 upregulation with tumor progression and poor survival in colorectal cancer. (PMID:32166582)
• FYN and ABL Regulate the Interaction Networks of the DCBLD Receptor Family. (PMID:32606017)
• Transmembrane protein DCBLD2 is correlated with poor prognosis and affects phenotype by regulating epithelial-mesenchymal transition in human glioblastoma cells. (PMID:33788813)
• ESDN inhibits melanoma progression by blocking E-selectin expression in endothelial cells via STAT3. (PMID:33862151)
• A homozygous nonsense mutation in DCBLD2 is a candidate cause of developmental delay, dysmorphic features and restrictive cardiomyopathy. (PMID:34145321)
• miR-451a suppresses papillary thyroid cancer cell proliferation and invasion and facilitates apoptosis through targeting DCBLD2 and AKT1. (PMID:36252912)
• cDCBLD2 mediates sorafenib resistance in hepatocellular carcinoma by sponging miR-345-5p binding to the TOP2A coding sequence. (PMID:37781045)
• CD146 promotes malignant progression of breast phyllodes tumor through suppressing DCBLD2 degradation and activating the AKT pathway. (PMID:37856423)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dcbld2	ENSDARG00000062177
mus_musculus	Dcbld2	ENSMUSG00000035107
rattus_norvegicus	Dcbld2	ENSRNOG00000055281

Paralogs (35): NRXN3 (ENSG00000021645), TLL1 (ENSG00000038295), CP (ENSG00000047457), HEPH (ENSG00000089472), TLL2 (ENSG00000095587), NRP1 (ENSG00000099250), PCOLCE (ENSG00000106333), CNTNAP3 (ENSG00000106714), CUBN (ENSG00000107611), CNTNAP1 (ENSG00000108797), NRXN2 (ENSG00000110076), MEP1A (ENSG00000112818), NRP2 (ENSG00000118257), CUZD1 (ENSG00000138161), MFGE8 (ENSG00000140545), MEP1B (ENSG00000141434), PDGFC (ENSG00000145431), CNTNAP4 (ENSG00000152910), CNTNAP3B (ENSG00000154529), CNTNAP5 (ENSG00000155052), CDCP2 (ENSG00000157211), PCOLCE2 (ENSG00000163710), EDIL3 (ENSG00000164176), NETO1 (ENSG00000166342), BMP1 (ENSG00000168487), PDGFD (ENSG00000170962), NETO2 (ENSG00000171208), CNTNAP2 (ENSG00000174469), NRXN1 (ENSG00000179915), HEPHL1 (ENSG00000181333), F8 (ENSG00000185010), ASTL (ENSG00000188886), F5 (ENSG00000198734), MFRP (ENSG00000235718), CNTNAP3C (ENSG00000283378)

Protein

Protein identifiers

Discoidin, CUB and LCCL domain-containing protein 2 — Q96PD2 (reviewed: Q96PD2)

Alternative names: CUB, LCCL and coagulation factor V/VIII-homology domains protein 1, Endothelial and smooth muscle cell-derived neuropilin-like protein

All UniProt accessions (2): Q96PD2, C9JIW6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Tissue specificity. Highly expressed in testis, heart, skeletal muscle and also in cultured vascular smooth muscle cells.

Induction. Increased in lung cancers during the process of tumor progression.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96PD2-1	1	yes
Q96PD2-2	2

RefSeq proteins (1): NP_563615* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000421	FA58C	Domain
IPR000859	CUB_dom	Domain
IPR004043	LCCL	Domain
IPR008979	Galactose-bd-like_sf	Homologous_superfamily
IPR035914	Sperma_CUB_dom_sf	Homologous_superfamily
IPR036609	LCCL_sf	Homologous_superfamily
IPR050633	Neuropilin_MCO_CoagFactor	Family

Pfam: PF00431, PF00754, PF03815

UniProt features (27 total): glycosylation site 6, disulfide bond 4, compositionally biased region 3, domain 3, topological domain 2, sequence variant 2, region of interest 2, signal peptide 1, chain 1, modified residue 1, splice variant 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PD2-F1	68.13	0.44

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): 606

Disulfide bonds (4): 72–99, 126–148, 215–237, 292–449

Glycosylation sites (6): 95, 155, 272, 474, 516, 522

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 280 (showing top): GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE45365_NK_CELL_VS_BCELL_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TGCACTT_MIR519C_MIR519B_MIR519A, GOBP_NEGATIVE_REGULATION_OF_CELL_GROWTH, GOBP_GROWTH, MODULE_493, GOCC_CELL_SURFACE, BILD_SRC_ONCOGENIC_SIGNATURE, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, GOBP_WOUND_HEALING, WEI_MYCN_TARGETS_WITH_E_BOX, FOSTER_TOLERANT_MACROPHAGE_DN

GO Biological Process (3): negative regulation of cell growth (GO:0030308), intracellular receptor signaling pathway (GO:0030522), wound healing (GO:0042060)

GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)

GO Cellular Component (3): plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
regulation of cell growth	1
cell growth	1
negative regulation of growth	1
negative regulation of cellular process	1
intracellular signal transduction	1
response to wounding	1
tissue regeneration	1
molecular transducer activity	1
binding	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

698 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DCBLD2	SEMA4B	Q9NPR2	874
DCBLD2	E2F7	Q96AV8	514
DCBLD2	ASPM	Q8IZT6	496
DCBLD2	EGFR	P00533	484
DCBLD2	GANAB	Q14697	454
DCBLD2	INSR	P06213	442
DCBLD2	KRT6A	P02538	440
DCBLD2	SI	P14410	417
DCBLD2	MGAM	O43451	417
DCBLD2	LRRC43	Q8N309	417
DCBLD2	CEP68	Q76N32	400
DCBLD2	ZNF800	Q2TB10	397
DCBLD2	UGGT1	Q9NYU2	381
DCBLD2	F5	P12259	381
DCBLD2	CANX	P27824	362

IntAct

48 interactions, top by confidence:

A	B	Type	Score
TSPAN15	ADAM10	psi-mi:“MI:0914”(association)	0.840
C1QTNF9	C1QTNF9B	psi-mi:“MI:0914”(association)	0.780
GPIHBP1	ADAM10	psi-mi:“MI:0914”(association)	0.530
TMEM106A	B4GALT3	psi-mi:“MI:0914”(association)	0.530
CRKL	DCBLD2	psi-mi:“MI:0915”(physical association)	0.500
DCBLD2	CRKL	psi-mi:“MI:0915”(physical association)	0.500
SNX33	DCBLD2	psi-mi:“MI:0915”(physical association)	0.400
DCBLD2	FYN	psi-mi:“MI:0915”(physical association)	0.400
CD81	STX3	psi-mi:“MI:0914”(association)	0.350
CD81	PVR	psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
	TNFRSF10A	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
GPIHBP1	SAC3D1	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
C1QTNF7	AGRN	psi-mi:“MI:0914”(association)	0.350
PCDHB11	SDCBP	psi-mi:“MI:0914”(association)	0.350
PCDHGB2	C2CD2L	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
TMPRSS11B	ADAM10	psi-mi:“MI:0914”(association)	0.350
ITM2B	HS6ST1	psi-mi:“MI:0914”(association)	0.350
TAFA5	NEBL	psi-mi:“MI:0914”(association)	0.350
APOM	ESYT2	psi-mi:“MI:0914”(association)	0.350
HLA-C	TMEM131L	psi-mi:“MI:0914”(association)	0.350

BioGRID (76): DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS), DCBLD2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNM1, A1L1A6, A6QNY1, A6QQC6, B0CLX4, B2RTN2, B8JI67, D3YX43, O02733, O88324, P01881, P01883, P12342, P21995, P26898, P86176, Q01151, Q0VCB1, Q0VFL4, Q2YDG7, Q3U0X8, Q5RCS3, Q5UKY4, Q6AXW8, Q6PCB8, Q7TMJ8, Q7TQM3, Q7TSN7, Q8BJN4, Q8IW00, Q8N7X8, Q8R526, Q8TBE3, Q8TDX9, Q8VCP9, Q8VD31, Q91V87, Q91ZV2, Q91ZV3, Q96FE7

Diamond homologs: A2RUV9, A5A6K7, O14786, O17754, O18806, O35276, O35375, O35474, O43854, O54858, O54991, O60462, O75976, O88783, O89001, P00451, P02886, P02887, P02888, P04836, P12259, P12263, P14384, P15087, P15169, P16870, P21956, P28824, P29068, P37892, P39041, P42787, P70490, P78357, P79385, P79795, P83852, P97333, P97846, P98092

SIGNOR signaling

8 interactions.

A	Effect	B	Mechanism
ABL1	“up-regulates activity”	DCBLD2	phosphorylation
FYN	“up-regulates activity”	DCBLD2	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 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
Metabolism of carbohydrates and carbohydrate derivatives	5	16.2×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	7
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2839 predictions. Top by Δscore:

Variant	Effect	Δscore
3:98799675:AGG:A	donor_gain	1.0000
3:98799675:AGGC:A	donor_gain	1.0000
3:98799675:AGGCC:A	donor_gain	1.0000
3:98799718:T:TA	donor_gain	1.0000
3:98799838:TACT:T	acceptor_gain	1.0000
3:98799840:CT:C	acceptor_gain	1.0000
3:98800720:CAT:C	acceptor_gain	1.0000
3:98800722:T:TC	acceptor_gain	1.0000
3:98800724:G:C	acceptor_gain	1.0000
3:98800724:G:GC	acceptor_gain	1.0000
3:98800728:C:CT	acceptor_gain	1.0000
3:98800729:G:T	acceptor_gain	1.0000
3:98800736:C:CT	acceptor_gain	1.0000
3:98800736:C:T	acceptor_gain	1.0000
3:98800737:A:T	acceptor_gain	1.0000
3:98801650:C:CC	acceptor_gain	1.0000
3:98811189:CATA:C	donor_loss	1.0000
3:98811190:ATAC:A	donor_loss	1.0000
3:98811193:C:A	donor_loss	1.0000
3:98811552:GACC:G	acceptor_loss	1.0000
3:98811553:ACC:A	acceptor_loss	1.0000
3:98811554:CCTTG:C	acceptor_loss	1.0000
3:98811555:C:CC	acceptor_gain	1.0000
3:98811556:T:C	acceptor_gain	1.0000
3:98811556:T:TC	acceptor_gain	1.0000
3:98811563:A:AC	acceptor_gain	1.0000
3:98811568:T:C	acceptor_gain	1.0000
3:98811568:T:TC	acceptor_gain	1.0000
3:98817773:T:C	donor_gain	1.0000
3:98817891:TGC:T	acceptor_gain	1.0000

AlphaMissense

5041 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:98819271:A:G	W340R	0.997
3:98819271:A:T	W340R	0.997
3:98881670:C:A	W101C	0.996
3:98881670:C:G	W101C	0.996
3:98881677:C:G	C99S	0.996
3:98881678:A:T	C99S	0.996
3:98819269:C:A	W340C	0.995
3:98819269:C:G	W340C	0.995
3:98881678:A:G	C99R	0.995
3:98849493:A:G	F180S	0.994
3:98849496:C:T	G179E	0.994
3:98881677:C:T	C99Y	0.994
3:98849497:C:G	G179R	0.993
3:98849497:C:T	G179R	0.993
3:98849519:A:C	S171R	0.993
3:98849519:A:T	S171R	0.993
3:98849521:T:G	S171R	0.993
3:98819415:A:G	C292R	0.992
3:98849482:A:C	Y184D	0.992
3:98881676:A:C	C99W	0.992
3:98881758:C:G	C72S	0.992
3:98881759:A:T	C72S	0.992
3:98822722:A:G	C215R	0.991
3:98812436:A:G	F420S	0.990
3:98822349:A:G	C237R	0.990
3:98849526:A:G	F169S	0.990
3:98849589:C:T	C148Y	0.990
3:98881672:A:G	W101R	0.990
3:98881672:A:T	W101R	0.990
3:98881677:C:A	C99F	0.990

dbSNP variants (sampled 300 via entrez): RS1000011822 (3:98830889 T>A), RS1000058411 (3:98903600 G>A), RS1000089143 (3:98871041 T>C), RS1000110338 (3:98903380 T>G), RS1000143345 (3:98862729 T>G), RS1000194695 (3:98847065 T>TA), RS1000214928 (3:98877101 T>A,C), RS1000223693 (3:98864117 T>C), RS1000229010 (3:98881129 G>A), RS1000251647 (3:98871292 C>T), RS1000259620 (3:98840660 T>A), RS1000323701 (3:98823924 G>T), RS1000360293 (3:98831275 C>A), RS1000415969 (3:98899841 T>C), RS1000416354 (3:98798808 G>A)

Disease associations

OMIM: gene MIM:608698 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST002579_21	Heschl’s gyrus morphology	3.000000e-07
GCST003991_15	Childhood ear infection	5.000000e-08
GCST006481_26	Lung function (FEV1)	5.000000e-08
GCST006482_33	Lung function (FEV1/FVC)	3.000000e-08
GCST006482_34	Lung function (FEV1/FVC)	3.000000e-06
GCST006483_21	Lung function (FVC)	5.000000e-09
GCST006483_22	Lung function (FVC)	1.000000e-07
GCST007429_110	Lung function (FVC)	2.000000e-30
GCST007432_124	FEV1	4.000000e-27
GCST008839_238	Height	1.000000e-13
GCST009391_202	Metabolite levels	5.000000e-06
GCST009724_33	Vertical cup-disc ratio (multi-trait analysis)	2.000000e-17
GCST009724_34	Vertical cup-disc ratio (multi-trait analysis)	8.000000e-22
GCST010002_434	Refractive error	5.000000e-25
GCST90011900_84	Serum alkaline phosphatase levels	2.000000e-11
GCST90013406_108	Liver enzyme levels (alkaline phosphatase)	4.000000e-26

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0007904	susceptibility to childhood ear infection measurement
EFO:0004314	forced expiratory volume
EFO:0004713	FEV/FVC ratio
EFO:0004312	vital capacity
EFO:0010488	glycerol-3-phosphate measurement
EFO:0006939	cup-to-disc ratio measurement
EFO:0004533	alkaline phosphatase measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

68 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	affects expression, increases expression	3
Tobacco Smoke Pollution	affects expression, decreases expression	3
trichostatin A	decreases expression, affects cotreatment, affects expression, affects methylation	2
sodium arsenite	decreases expression, increases expression	2
Cisplatin	affects cotreatment, decreases expression	2
Smoke	increases expression, decreases expression, increases abundance	2
Valproic Acid	decreases expression, decreases methylation	2
Aflatoxin B1	increases expression	2
aristolochic acid I	decreases expression	1
FR900359	decreases phosphorylation	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, decreases methylation	1
sodium arsenate	increases abundance, increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
methylparaben	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
cobaltous chloride	decreases expression	1
sulindac sulfide	increases expression	1
nickel sulfate	decreases expression	1
coumarin	increases phosphorylation	1
isobutyl alcohol	affects cotreatment, decreases expression, increases abundance	1
avobenzone	increases expression	1
chloropicrin	decreases expression	1
monomethylarsonous acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
mirdametinib	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, decreases expression	1
Dasatinib	decreases expression	1
Temozolomide	decreases expression	1

Clinical trials (associated diseases)

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