NID2

Summary

NID2 (nidogen 2, HGNC:13389) is a protein-coding gene on chromosome 14q22.1, encoding Nidogen-2 (Q14112). Cell adhesion glycoprotein which is widely distributed in basement membranes.

This gene encodes a member of the nidogen family of basement membrane proteins. This protein is a cell-adhesion protein that binds collagens I and IV and laminin and may be involved in maintaining the structure of the basement membrane.

Source: NCBI Gene 22795 — RefSeq curated summary.

At a glance

• GWAS associations: 19
• Clinical variants (ClinVar): 317 total
• MANE Select transcript: NM_007361

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13389
Approved symbol	NID2
Name	nidogen 2
Location	14q22.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000087303
Ensembl biotype	protein_coding
OMIM	605399
Entrez	22795

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 retained_intron, 2 protein_coding

ENST00000216286, ENST00000553297, ENST00000554284, ENST00000555310, ENST00000556572, ENST00000556686, ENST00000557051

RefSeq mRNA: 1 — MANE Select: NM_007361 NM_007361

CCDS: CCDS9706

Canonical transcript exons

ENST00000216286 — 22 exons

Exon	Start	End
ENSE00000391187	52027201	52027344
ENSE00000391191	52014287	52014456
ENSE00000657280	52019061	52019294
ENSE00000657282	52020059	52020178
ENSE00000657320	52042782	52042931
ENSE00000854708	52028722	52028850
ENSE00000854715	52053579	52053938
ENSE00000854716	52054020	52054321
ENSE00000854718	52060124	52060356
ENSE00000854721	52067858	52068163
ENSE00001216323	52011554	52011683
ENSE00001216335	52015054	52015275
ENSE00001318738	52042105	52042350
ENSE00001883135	52068767	52069059
ENSE00003465016	52038747	52038977
ENSE00003474001	52006537	52006660
ENSE00003474212	52007810	52007967
ENSE00003523029	52010876	52011047
ENSE00003548263	52040651	52040851
ENSE00003617954	52029547	52029690
ENSE00003685085	52005737	52005849
ENSE00003845866	52004809	52005496

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 98.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.0077 / max 239.0390, expressed in 1018 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143231	8.8524	984
143230	1.7539	649
143232	0.1968	104
143229	0.1351	63
143226	0.0695	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cartilage tissue	UBERON:0002418	98.91	gold quality
stromal cell of endometrium	CL:0002255	98.01	gold quality
tibia	UBERON:0000979	96.14	gold quality
right lobe of thyroid gland	UBERON:0001119	95.97	gold quality
thyroid gland	UBERON:0002046	95.27	gold quality
left lobe of thyroid gland	UBERON:0001120	95.25	gold quality
decidua	UBERON:0002450	94.86	gold quality
placenta	UBERON:0001987	94.34	gold quality
parietal pleura	UBERON:0002400	93.85	gold quality
secondary oocyte	CL:0000655	93.77	gold quality
tibial nerve	UBERON:0001323	93.49	gold quality
right ovary	UBERON:0002118	93.47	gold quality
oocyte	CL:0000023	92.97	gold quality
left ovary	UBERON:0002119	92.87	gold quality
omental fat pad	UBERON:0010414	92.42	gold quality
peritoneum	UBERON:0002358	92.34	gold quality
adipose tissue of abdominal region	UBERON:0007808	92.01	gold quality
mucosa of stomach	UBERON:0001199	91.81	gold quality
pleura	UBERON:0000977	91.71	gold quality
apex of heart	UBERON:0002098	91.39	gold quality
heart left ventricle	UBERON:0002084	91.23	gold quality
cardiac ventricle	UBERON:0002082	91.05	gold quality
adrenal tissue	UBERON:0018303	90.97	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	90.87	gold quality
gall bladder	UBERON:0002110	90.82	gold quality
ovary	UBERON:0000992	90.40	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.29	gold quality
lower esophagus	UBERON:0013473	90.23	gold quality
pigmented layer of retina	UBERON:0001782	89.99	gold quality
retina	UBERON:0000966	89.97	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-GEOD-130473	yes	1502.14
E-HCAD-24	yes	542.29
E-CURD-119	yes	16.48
E-ANND-3	yes	8.71
E-GEOD-83139	yes	7.63
E-GEOD-84465	yes	6.98

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ESR1

miRNA regulators (miRDB)

57 targeting NID2, 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-9-5P	100.00	72.28	2361
HSA-MIR-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4425	100.00	67.59	1049
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-4282	99.99	75.36	6408
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-101-3P	99.94	75.03	2230
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-5582-3P	99.86	72.48	4221
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-3121-3P	99.82	71.96	3630

Literature-anchored findings (GeneRIF, showing 24)

• short arm region of laminin-5 gamma2 chain: structure, mechanism of processing and binding to heparin, nidogen-1, fibulin-1 and fibulin-2 (PMID:11733994)
• found to be ubiquitous component of basement membrane zones underneath developing epithelia of most of the major organ systems; may participate in cell biological functions during human development (PMID:12005023)
• Nidogen-2 compensation hypothesis to explain limited phenotype observed following elimination of nidogen-1 gene. (PMID:12475645)
• nidogen-2 is equivalent to nidogen-1 in skin-organotypic coculture, and both can promote the development of a functional basement membrane zone (PMID:17008882)
• CpG islands of both NID1 and NID2 genes are aberrantly methylated in human cancer samples and cancer cell lines. (PMID:17328794)
• Nidogen-2 is a new biomarker for ovarian cancer which correlates closely with CA125. (PMID:19883638)
• NID2 promoter hypermethylation is associated with oral cavity squamous cell carcinoma. (PMID:21558411)
• Decreased nidogen-2 expression is associated with hepatocellular carcinoma (PMID:21815147)
• The cleavage of nidogen-1 and -2 is partially inhibited in human tumor samples. (PMID:23681936)
• combined methylation analysis of Twist homolog 1 and nidogen-2 genes may be a simple, noninvasive, sensitive, and specific method for detecting cancer cells in urine. (PMID:23682613)
• Knockdown of nidogen-2 reduced SOX9 expression, whereas it up-regulated RUNX2 expression (PMID:26683663)
• Promoter methylation of NID2 was significantly higher in nasopharyngeal carcinoma and esophageal squamous cell carcinoma cells. NID2 suppresses the EGFR/Akt and integrin/FAK/PLCgamma metastasis-related pathways. (PMID:27793011)
• Addition of a TWIST1/NID2-based DNA methylation assay adds diagnostic value to urine cytology and the model is sensitive to the classification of equivocal cytology. (PMID:28106542)
• the serum NID2 levels show significant elevation in the ESCC patients and those with relatively high serum NID2 levels ( 32.6 mu mu g/L) are significantly associated with poor survival outcome compared with those with very low serum NID2 levels (< < 20.0 mu mu g/L). (PMID:29278876)
• High NID2 methylation is associated with non-small cell lung cancer. (PMID:29970687)
• Silencing NID2 by DNA Hypermethylation Promotes Lung Cancer. (PMID:30826972)
• Our results indicated that NID2, COL4A1 and COL4A2 could be the potential novel biomarkers for gastric cancer diagnosis prognosis and the promising therapeutic targets (PMID:30975489)
• Our study demonstrates that up-regulated NID2 plays an important role in promoting the invasion and migration of gastric cancer cells and has a potential of being a novel biomarker for diagnosis, treatment and prognosis of gastric cancer in the future. (PMID:31362888)
• Evaluation of NID2 promoter methylation for screening of Oral squamous cell carcinoma. (PMID:32171289)
• A pilot proteomic study with a prospective cohort suspected to develop preeclampsia. (PMID:32472113)
• Genome-Scale Analysis Identified NID2, SPARC, and MFAP2 as Prognosis Markers of Overall Survival in Gastric Cancer. (PMID:33758160)
• Nidogen-2 Maintains the Contractile Phenotype of Vascular Smooth Muscle Cells and Prevents Neointima Formation via Bridging Jagged1-Notch3 Signaling. (PMID:34315224)
• Nidogen-2: A new biomarker in colon cancer patients. (PMID:34593672)
• Association of NID2 SNPs with Glioma Risk and Prognosis in the Chinese Population. (PMID:38935278)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	nid2b	ENSDARG00000009471
danio_rerio	nid2a	ENSDARG00000075707
mus_musculus	Nid2	ENSMUSG00000021806
rattus_norvegicus	Nid2	ENSRNOG00000000341
drosophila_melanogaster	arr	FBGN0000119

Paralogs (14): LRP6 (ENSG00000070018), LRP2 (ENSG00000081479), NID1 (ENSG00000116962), LRP1 (ENSG00000123384), LDLR (ENSG00000130164), LRP3 (ENSG00000130881), LRP4 (ENSG00000134569), EGF (ENSG00000138798), LRP12 (ENSG00000147650), VLDLR (ENSG00000147852), LRP8 (ENSG00000157193), LRP5 (ENSG00000162337), LRP1B (ENSG00000168702), LRP10 (ENSG00000197324)

Protein

Protein identifiers

Nidogen-2 — Q14112 (reviewed: Q14112)

Alternative names: Osteonidogen

All UniProt accessions (2): Q14112, H0YJV3

UniProt curated annotations — full annotation on UniProt →

Function. Cell adhesion glycoprotein which is widely distributed in basement membranes. Binds to collagens I and IV, to perlecan and to laminin 1. Does not bind fibulins. It probably has a role in cell-extracellular matrix interactions.

Subunit / interactions. Interacts with LAMA2. Interacts with COL13A1. Interacts with EFEMP2.

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.

Tissue specificity. Detected in placenta (at protein level). Heart and bone. Less in pancreas, kidney and skeletal muscle.

Post-translational modifications. Highly N-glycosylated. Highly O-glycosylated. Contains chondroitin sulfate which is attached at Ser-452 and at either Ser-358 or Ser-359.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14112-1	1	yes
Q14112-2	2

RefSeq proteins (1): NP_031387* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000033	LDLR_classB_rpt	Repeat
IPR000152	EGF-type_Asp/Asn_hydroxyl_site	PTM
IPR000716	Thyroglobulin_1	Domain
IPR000742	EGF	Domain
IPR001881	EGF-like_Ca-bd_dom	Domain
IPR003886	NIDO_dom	Domain
IPR006605	G2_nidogen/fibulin_G2F	Domain
IPR009017	GFP	Homologous_superfamily
IPR009030	Growth_fac_rcpt_cys_sf	Homologous_superfamily
IPR011042	6-blade_b-propeller_TolB-like	Homologous_superfamily
IPR018097	EGF_Ca-bd_CS	Conserved_site
IPR024731	NELL2-like_EGF	Domain
IPR026823	cEGF	Domain
IPR036857	Thyroglobulin_1_sf	Homologous_superfamily
IPR049883	NOTCH1_EGF-like	Domain
IPR050778

Pfam: PF00058, PF00086, PF06119, PF07474, PF07645, PF12662, PF12947

UniProt features (66 total): disulfide bond 18, sequence variant 12, domain 9, glycosylation site 8, repeat 5, sequence conflict 5, region of interest 2, compositionally biased region 2, splice variant 2, signal peptide 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14112-F1	74.40	0.28

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): 1308

Disulfide bonds (18): 763–776, 770–786, 788–799, 805–818, 812–827, 829–842, 852–867, 859–877, 879–890, 896–907, 901–916, 918–929, 940–963, 974–981, 983–1005, 1019–1043, 1054–1061, 1063–1084

Glycosylation sites (8): 358, 359, 417, 452, 658, 693, 703, 1124

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-3000157	Laminin interactions

MSigDB gene sets: 180 (showing top): CHIARETTI_T_ALL_REFRACTORY_TO_THERAPY, ATACCTC_MIR202, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MCBRYAN_PUBERTAL_TGFB1_TARGETS_DN, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, ZHAN_MULTIPLE_MYELOMA_CD1_UP, MODULE_66, SMITH_TERT_TARGETS_DN, MCBRYAN_PUBERTAL_BREAST_4_5WK_DN, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, ONDER_CDH1_TARGETS_2_UP, IGLESIAS_E2F_TARGETS_UP, BASAKI_YBX1_TARGETS_UP

GO Biological Process (3): cell adhesion (GO:0007155), cell-matrix adhesion (GO:0007160), basement membrane organization (GO:0071711)

GO Molecular Function (4): extracellular matrix structural constituent (GO:0005201), calcium ion binding (GO:0005509), collagen binding (GO:0005518), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), basement membrane (GO:0005604), obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Extracellular matrix organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
extracellular matrix	2
cellular process	1
cell-substrate adhesion	1
extracellular matrix organization	1
structural molecule activity	1
metal ion binding	1
protein-containing complex binding	1
binding	1
cellular anatomical structure	1
membrane	1
cell periphery	1
external encapsulating structure	1
extracellular vesicle	1

Protein interactions and networks

STRING

1508 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
NID2	HSPG2	P98160	997
NID2	LAMC1	P11047	919
NID2	FBLN2	P98095	779
NID2	LAMB1	P07942	735
NID2	AGRN	O00468	663
NID2	FN1	P02751	661
NID2	COL18A1	P39060	661
NID2	COL4A2	P08572	649
NID2	LAMA2	P24043	649
NID2	NID1	P14543	637
NID2	LAMA5	O15230	606
NID2	ELN	P15502	589
NID2	COL6A3	P12111	570
NID2	LAMA1	P25391	568
NID2	LAMA4	Q16363	519

IntAct

41 interactions, top by confidence:

A	B	Type	Score
ETV6	LRP5	psi-mi:“MI:0914”(association)	0.640
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
LRRTM4	AP3B1	psi-mi:“MI:0914”(association)	0.530
DEFA1	MANBA	psi-mi:“MI:0914”(association)	0.530
HADHA	AGRN	psi-mi:“MI:0914”(association)	0.530
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
LGALS3	PODXL	psi-mi:“MI:0914”(association)	0.530
NID2	CRTAP	psi-mi:“MI:0915”(physical association)	0.400
SKIL	NID2	psi-mi:“MI:0915”(physical association)	0.370
	NID2	psi-mi:“MI:0915”(physical association)	0.370
TNIP1	COCH	psi-mi:“MI:0914”(association)	0.350
TNIP2	TMEM178B	psi-mi:“MI:0914”(association)	0.350
DCAF4	IGLL5	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
SUSD4	CCDC85C	psi-mi:“MI:0914”(association)	0.350
LSM12	MCRIP1	psi-mi:“MI:0914”(association)	0.350
CCDC71	SUPT5H	psi-mi:“MI:0914”(association)	0.350
RAMP1	SUPT5H	psi-mi:“MI:0914”(association)	0.350
TAFAZZIN	MANBA	psi-mi:“MI:0914”(association)	0.350
SLURP1	MANBA	psi-mi:“MI:0914”(association)	0.350
NID2	AGRN	psi-mi:“MI:0914”(association)	0.350
MANEA	AGRN	psi-mi:“MI:0914”(association)	0.350
FGF4	AGRN	psi-mi:“MI:0914”(association)	0.350
LGALS9	PODXL	psi-mi:“MI:0914”(association)	0.350
TMEM25	NME4	psi-mi:“MI:0914”(association)	0.350
LY86	PLXNB2	psi-mi:“MI:0914”(association)	0.350
EPHA7	PLOD3	psi-mi:“MI:0914”(association)	0.350
LYG2	PLOD3	psi-mi:“MI:0914”(association)	0.350
CGB5	IGSF3	psi-mi:“MI:0914”(association)	0.350

BioGRID (98): KRTAP10-3 (Two-hybrid), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS), NID2 (Affinity Capture-MS)

ESM2 similar proteins: A1A5Y0, A2ASQ1, O00468, O00548, O57409, O89103, O95428, P06579, P07204, P0C5J5, P15306, P20063, P25304, P31696, P97607, P97677, P98160, Q05793, Q08E66, Q14112, Q2PC93, Q501P1, Q53RD9, Q5W7P8, Q61483, Q61810, Q66PY1, Q6NUX0, Q6NZL8, Q6ZRI0, Q71U07, Q75N90, Q7T3Q2, Q8IWY4, Q8IX30, Q8JZM4, Q8NFT8, Q8R0S6, Q8R4Y4, Q8VIK5

Diamond homologs: A0A1D0C023, B3F211, B5DFC9, P04233, P04441, P10247, P10493, P31226, P81439, P84032, Q08629, Q14112, Q62288, Q8BKV0, Q8BLY1, Q8CD91, Q92563, Q9ER58, Q9H3U7, Q9H4F8, A0A6I8RMG7, A2AJ76, B3EWY9, O35568, O77469, O88322, P14543, P41413, P48960, P98095, Q04592, Q09165, Q19267, Q2KIT5, Q2Q421, Q2Q426, Q4G063, Q4V7F2, Q4V7M2, Q5EA46

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	247
Likely benign	26
Benign	12

Top pathogenic / likely-pathogenic (0)

SpliceAI

4337 predictions. Top by Δscore:

Variant	Effect	Δscore
14:52006538:T:TA	donor_gain	1.0000
14:52006577:CGATG:C	donor_gain	1.0000
14:52006656:GGTTC:G	acceptor_gain	1.0000
14:52006657:GTTC:G	acceptor_gain	1.0000
14:52006658:TTCC:T	acceptor_loss	1.0000
14:52006659:TC:T	acceptor_gain	1.0000
14:52006660:CCTTT:C	acceptor_gain	1.0000
14:52006661:C:CA	acceptor_loss	1.0000
14:52006661:C:CC	acceptor_gain	1.0000
14:52006662:T:C	acceptor_gain	1.0000
14:52006662:T:TC	acceptor_gain	1.0000
14:52006664:T:C	acceptor_gain	1.0000
14:52006664:T:TC	acceptor_gain	1.0000
14:52006670:C:CT	acceptor_gain	1.0000
14:52007965:TTG:T	acceptor_gain	1.0000
14:52007968:C:CC	acceptor_gain	1.0000
14:52010870:G:C	donor_gain	1.0000
14:52010874:AC:A	donor_gain	1.0000
14:52010875:CC:C	donor_gain	1.0000
14:52011046:ACCT:A	acceptor_loss	1.0000
14:52011048:CTG:C	acceptor_loss	1.0000
14:52011682:CC:C	acceptor_gain	1.0000
14:52011682:CCCT:C	acceptor_loss	1.0000
14:52011682:CCCTT:C	acceptor_gain	1.0000
14:52011683:CCT:C	acceptor_loss	1.0000
14:52011683:CCTT:C	acceptor_gain	1.0000
14:52011684:C:T	acceptor_gain	1.0000
14:52011686:T:C	acceptor_gain	1.0000
14:52011686:T:TC	acceptor_gain	1.0000
14:52011688:G:GC	acceptor_gain	1.0000

AlphaMissense

8956 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:52006542:C:A	W1333C	0.998
14:52006542:C:G	W1333C	0.998
14:52007946:C:A	W1248C	0.998
14:52007946:C:G	W1248C	0.998
14:52011635:A:C	Y1157D	0.998
14:52007820:C:A	W1290C	0.997
14:52007820:C:G	W1290C	0.997
14:52007822:A:G	W1290R	0.997
14:52007822:A:T	W1290R	0.997
14:52007825:A:G	C1289R	0.997
14:52007948:A:G	W1248R	0.997
14:52007948:A:T	W1248R	0.997
14:52007955:C:A	W1245C	0.997
14:52007955:C:G	W1245C	0.997
14:52007957:A:G	W1245R	0.997
14:52007957:A:T	W1245R	0.997
14:52010994:A:G	W1202R	0.997
14:52010994:A:T	W1202R	0.997
14:52011601:C:G	R1168P	0.997
14:52015118:C:A	W1062C	0.997
14:52015118:C:G	W1062C	0.997
14:52015176:C:G	C1043S	0.997
14:52015177:A:T	C1043S	0.997
14:52010997:A:C	Y1201D	0.996
14:52011632:A:G	W1158R	0.996
14:52011632:A:T	W1158R	0.996
14:52015248:C:G	C1019S	0.996
14:52015249:A:T	C1019S	0.996
14:52029621:C:G	C776S	0.996
14:52029622:A:T	C776S	0.996

dbSNP variants (sampled 300 via entrez): RS1000037849 (14:52063685 T>G), RS1000103446 (14:52035684 A>G,T), RS1000173336 (14:52005175 T>G), RS1000213083 (14:52004845 T>C), RS1000218996 (14:52012655 C>T), RS1000232657 (14:52069890 C>A,G,T), RS1000248571 (14:52022002 G>A,T), RS1000264026 (14:52070149 T>C), RS1000290754 (14:52061675 G>T), RS1000329013 (14:52004587 A>G), RS1000376462 (14:52045149 C>A), RS1000407624 (14:52045316 C>T), RS1000443034 (14:52030411 G>T), RS1000483935 (14:52047043 A>T), RS1000547792 (14:52063929 C>T)

Disease associations

OMIM: gene MIM:605399 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

19 associations (top):

Study	Trait	p-value
GCST000106_1	Pulmonary function	6.000000e-06
GCST002392_2	Lung cancer (smoking interaction)	7.000000e-06
GCST003338_1	Waist-to-hip ratio adjusted for body mass index	1.000000e-14
GCST003338_9	Waist-to-hip ratio adjusted for body mass index	9.000000e-16
GCST004412_11	Craniofacial microsomia	1.000000e-07
GCST004904_1	Body mass index	1.000000e-10
GCST006003_2	Triglyceride levels	1.000000e-08
GCST010241_312	Apolipoprotein A1 levels	2.000000e-08
GCST010242_108	HDL cholesterol levels	2.000000e-08
GCST010244_194	Triglyceride levels	3.000000e-08
GCST010396_118	Gut microbiota (bacterial taxa, hurdle binary method)	7.000000e-07
GCST011947_50	White matter hyperintensity volume	5.000000e-08
GCST011950_9	White matter hyperintensity volume (adjusted for hypertension)	1.000000e-07
GCST011953_11	White matter hyperintensity volume x hypertension interaction (2df)	2.000000e-06
GCST012442_50	Age-related hearing impairment	4.000000e-15
GCST90020025_299	Waist-to-hip ratio adjusted for BMI	4.000000e-09
GCST90020026_238	Hip index	2.000000e-08
GCST90020027_676	Waist-hip index	4.000000e-08
GCST90020027_677	Waist-hip index	2.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0006527	smoking status measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0004340	body mass index
EFO:0004530	triglyceride measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007874	gut microbiome measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0008039	BMI-adjusted hip circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects expression, affects cotreatment, increases methylation, increases expression	4
Air Pollutants	increases abundance, increases expression, decreases expression	3
Valproic Acid	affects expression, increases expression	3
bisphenol S	increases expression	2
Benzo(a)pyrene	affects methylation	2
Tobacco Smoke Pollution	affects expression, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
propionaldehyde	increases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
salinomycin	decreases expression	1
trichostatin A	increases expression	1
arsenite	increases methylation	1
butyraldehyde	increases expression	1
aflatoxin B2	decreases methylation	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
tebuconazole	decreases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1
licochalcone B	increases expression	1
NSC 689534	increases expression	1
Resveratrol	affects secretion	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Troglitazone	increases expression	1
Acetaminophen	decreases expression	1
Aldehydes	increases expression	1

Clinical trials (associated diseases)

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