DAD1

Summary

DAD1 (defender against cell death 1, HGNC:2664) is a protein-coding gene on chromosome 14q11.2, encoding Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit DAD1 (P61803). Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypep…. It is a common-essential gene (DepMap: required in 99.9% of cancer cell lines).

DAD1, the defender against apoptotic cell death, was initially identified as a negative regulator of programmed cell death in the temperature sensitive tsBN7 cell line. The DAD1 protein disappeared in temperature-sensitive cells following a shift to the nonpermissive temperature, suggesting that loss of the DAD1 protein triggered apoptosis. DAD1 is believed to be a tightly associated subunit of oligosaccharyltransferase both in the intact membrane and in the purified enzyme, thus reflecting the essential nature of N-linked glycosylation in eukaryotes.

Source: NCBI Gene 1603 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 28 total — 1 pathogenic
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 99.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_001344

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2664
Approved symbol	DAD1
Name	defender against cell death 1
Location	14q11.2
Locus type	gene with protein product
Status	Approved
Aliases	OST2
Ensembl gene	ENSG00000129562
Ensembl biotype	protein_coding
OMIM	600243
Entrez	1603

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 8 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000250498, ENST00000489532, ENST00000535847, ENST00000538631, ENST00000543337, ENST00000860829, ENST00000860830, ENST00000938621, ENST00000938622, ENST00000938623

RefSeq mRNA: 1 — MANE Select: NM_001344 NM_001344

CCDS: CCDS9571

Canonical transcript exons

ENST00000250498 — 3 exons

Exon	Start	End
ENSE00001328164	22564907	22565137
ENSE00001856354	22588947	22589224
ENSE00003543249	22575059	22575233

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.41.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 232.4194 / max 1111.8124, expressed in 1826 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
142234	232.4194	1826

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
islet of Langerhans	UBERON:0000006	99.41	gold quality
right lobe of thyroid gland	UBERON:0001119	99.04	gold quality
gall bladder	UBERON:0002110	99.04	gold quality
adenohypophysis	UBERON:0002196	99.02	gold quality
endocervix	UBERON:0000458	98.99	gold quality
left lobe of thyroid gland	UBERON:0001120	98.99	gold quality
right adrenal gland	UBERON:0001233	98.99	gold quality
rectum	UBERON:0001052	98.97	gold quality
left adrenal gland	UBERON:0001234	98.95	gold quality
stromal cell of endometrium	CL:0002255	98.94	gold quality
smooth muscle tissue	UBERON:0001135	98.94	gold quality
right adrenal gland cortex	UBERON:0035827	98.93	gold quality
pituitary gland	UBERON:0000007	98.92	gold quality
body of pancreas	UBERON:0001150	98.92	gold quality
left adrenal gland cortex	UBERON:0035825	98.92	gold quality
right uterine tube	UBERON:0001302	98.91	gold quality
ascending aorta	UBERON:0001496	98.91	gold quality
right coronary artery	UBERON:0001625	98.91	gold quality
left coronary artery	UBERON:0001626	98.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.91	gold quality
thoracic aorta	UBERON:0001515	98.90	gold quality
corpus epididymis	UBERON:0004359	98.90	gold quality
mucosa of transverse colon	UBERON:0004991	98.86	gold quality
body of uterus	UBERON:0009853	98.82	gold quality
right testis	UBERON:0004534	98.81	gold quality
descending thoracic aorta	UBERON:0002345	98.80	gold quality
ectocervix	UBERON:0012249	98.80	gold quality
left uterine tube	UBERON:0001303	98.79	gold quality
thyroid gland	UBERON:0002046	98.79	gold quality
metanephros cortex	UBERON:0010533	98.79	gold quality

Single-cell (SCXA)

Detected in 13 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-76312	yes	948.68
E-HCAD-6	yes	924.36
E-MTAB-9467	yes	46.96
E-HCAD-5	yes	42.32
E-HCAD-4	yes	39.26
E-CURD-112	yes	34.91
E-MTAB-6701	yes	16.25
E-MTAB-8142	yes	15.38
E-MTAB-9067	yes	13.13
E-MTAB-8884	no	522.87
E-GEOD-81547	no	10.27
E-GEOD-93593	no	8.13
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): ETS1, TP53

miRNA regulators (miRDB)

31 targeting DAD1, 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-8068	99.98	73.85	2376
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-216A-3P	99.95	71.19	2505
HSA-MIR-128-3P	99.95	71.17	2484
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-130A-3P	99.90	73.31	1861
HSA-MIR-130B-3P	99.90	73.27	1850
HSA-MIR-301A-3P	99.90	73.15	1839
HSA-MIR-301B-3P	99.90	73.19	1836
HSA-MIR-3666	99.90	73.24	1833
HSA-MIR-4295	99.90	73.11	1838
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-519A-3P	99.67	71.67	1868
HSA-MIR-519B-3P	99.67	71.67	1868
HSA-MIR-519C-3P	99.67	71.67	1870
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-326	98.25	66.44	1565
HSA-MIR-3652	97.71	65.43	1890
HSA-MIR-4430	97.47	65.61	1813
HSA-MIR-6730-3P	97.03	67.54	889
HSA-MIR-1287-5P	96.80	65.30	743
HSA-MIR-4680-5P	96.43	67.15	893

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 5)

• DAD1 protein overexpression is associated with small bowel carcinoid tumors (PMID:18383209)
• DAD1 gene expression is decreased in follicular variant of papillary thyroid carcinoma. (PMID:21509594)
• single-nucleotide polymorphisms in DAD1 gene is associated with neuroendocrine tumor. (PMID:21606320)
• this study shows that abnormal expression of DAD1 may relate to the hyperfunction of immune responses and excessive apoptosis of severe aplastic anemia CD34(+) cells (PMID:27086042)
• variants in both the DAD1 and OXA1L genes may affect atopy and asthma in a Latin American population with a high prevalence of asthma. (PMID:30032071)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	dad1	ENSDARG00000102105
mus_musculus	Dad1	ENSMUSG00000022174
rattus_norvegicus	Dad1	ENSRNOG00000009090
drosophila_melanogaster	Dad1	FBGN0263852
caenorhabditis_elegans	dad-1	WBGENE00000896

Protein

Protein identifiers

Dolichyl-diphosphooligosaccharide–protein glycosyltransferase subunit DAD1 — P61803 (reviewed: P61803)

Alternative names: Defender against cell death 1

All UniProt accessions (4): P61803, A0A0B4J239, F5GXX5, F5H895

UniProt curated annotations — full annotation on UniProt →

Function. Subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-X-Ser/Thr consensus motif in nascent polypeptide chains, the first step in protein N-glycosylation. N-glycosylation occurs cotranslationally and the complex associates with the Sec61 complex at the channel-forming translocon complex that mediates protein translocation across the endoplasmic reticulum (ER). All subunits are required for a maximal enzyme activity. Required for the assembly of both SST3A- and SS3B-containing OST complexes. Loss of the DAD1 protein triggers apoptosis.

Subunit / interactions. Component of the oligosaccharyltransferase (OST) complex. OST exists in two different complex forms which contain common core subunits RPN1, RPN2, OST48, OST4, DAD1 and TMEM258, either STT3A or STT3B as catalytic subunits, and form-specific accessory subunits. STT3A complex assembly occurs through the formation of 3 subcomplexes. Subcomplex 1 contains RPN1 and TMEM258, subcomplex 2 contains the STT3A-specific subunits STT3A, DC2/OSTC, and KCP2 as well as the core subunit OST4, and subcomplex 3 contains RPN2, DAD1, and OST48. The STT3A complex can form stable complexes with the Sec61 complex or with both the Sec61 and TRAP complexes.

Subcellular location. Endoplasmic reticulum membrane.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the DAD/OST2 family.

RefSeq proteins (1): NP_001335* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003038	DAD/Ost2	Family

Pfam: PF02109

Enzyme classification (BRENDA):

• EC 2.4.99.18 — dolichyl-diphosphooligosaccharide-protein glycotransferase (BRENDA: 84 organisms, 135 substrates, 28 inhibitors, 38 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

29 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
TYR-ASN-LEU-THR-SER-VAL	0.05–0.6	3
ACETYL-ASN-ALA-THR	0.08–0.143	2
ALA-LEU-GLN-ASN-ALA-THR-ARG	0.3–0.358	2
ASN-ALA-THR	0.56–2.09	2
DIPHENYL-ALA-LEU-GLU-ASN-ALA-THR-ARG-NH2	0.072–0.23	2
TYR-GLN-SER-ASN-SER-THR-MET	0.08–0.127	2
AC-ASN-ALA-THR-NH2	2	1
AC-ASN-LEU-THR-NH2	1	1
ACETYL-ASN-LYS-THR	0.278	1
ACETYL-DFNAT-(4-NITROPHENYLALANINE)-NH2	0.0009	1
ACETYL-DFNVT-(4-NITROPHENYLALANINE)-NH2	0.0012	1
ACETYL-DQNAT-(4-NITROPHENYLALANINE)-NH2	0.0008	1
ACETYL-DVNAS-(4-NITROPHENYLALANINE)-NH2	0.003	1
ACETYL-DVNAT-(4-NITROPHENYLALANINE)-NH2	0.0011	1
ACETYL-DVNVT-(4-NITROPHENYLALANINE)-NH2	0.0014	1

UniProt features (17 total): helix 5, topological domain 3, transmembrane region 3, initiator methionine 1, chain 1, sequence conflict 1, turn 1, modified residue 1, sequence variant 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
9N9J	ELECTRON MICROSCOPY	3.2
6S7O	ELECTRON MICROSCOPY	3.5
6S7T	ELECTRON MICROSCOPY	3.5
8PN9	ELECTRON MICROSCOPY	3.61
9YGY	ELECTRON MICROSCOPY	4.1
8B6L	ELECTRON MICROSCOPY	7.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P61803-F1	95.43	0.96

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-9694548	Maturation of spike protein
R-HSA-9768727	Regulation of CDH1 posttranslational processing and trafficking to plasma membrane
R-HSA-9918432	Maturation of DENV proteins
R-HSA-9931295	PD-L1(CD274) glycosylation and translocation to plasma membrane

MSigDB gene sets: 212 (showing top): GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_10, TGCGCANK_UNKNOWN, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, MODULE_151, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, KEGG_N_GLYCAN_BIOSYNTHESIS, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, RUTELLA_RESPONSE_TO_CSF2RB_AND_IL4_UP, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS

GO Biological Process (8): blastocyst development (GO:0001824), protein N-linked glycosylation (GO:0006487), apoptotic process (GO:0006915), glycoprotein biosynthetic process (GO:0009101), obsolete protein N-linked glycosylation via asparagine (GO:0018279), regulation of protein stability (GO:0031647), negative regulation of apoptotic process (GO:0043066), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (1): enzyme activator activity (GO:0008047)

GO Cellular Component (6): endoplasmic reticulum membrane (GO:0005789), oligosaccharyltransferase complex (GO:0008250), membrane (GO:0016020), oligosaccharyltransferase complex A (GO:0160226), oligosaccharyltransferase complex B (GO:0160227), endoplasmic reticulum (GO:0005783)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Post-translational protein modification	1
Translation of Structural Proteins	1
Regulation of CDH1 Expression and Function	1
Dengue Virus Genome Translation and Replication	1
Regulation of PD-L1(CD274) Post-translational modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
oligosaccharyltransferase complex	2
in utero embryonic development	1
anatomical structure development	1
glycoprotein biosynthetic process	1
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
regulation of biological quality	1
apoptotic process	1
regulation of apoptotic process	1
negative regulation of programmed cell death	1
catalytic activity	1
enzyme regulator activity	1
molecular function activator activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
transferase complex	1
cellular anatomical structure	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

82 interactions, top by confidence:

A	B	Type	Score
LDLRAD4	NEDD4	psi-mi:“MI:0914”(association)	0.690
CD27	TCAF2	psi-mi:“MI:0914”(association)	0.640
LRRC32	SMPD2	psi-mi:“MI:0914”(association)	0.640
FSHR	UPK3BL1	psi-mi:“MI:0914”(association)	0.530
CLEC5A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
RPN2	SMPD2	psi-mi:“MI:0914”(association)	0.530
DAD1	RPN1	psi-mi:“MI:0915”(physical association)	0.530
NPDC1	TCAF2	psi-mi:“MI:0914”(association)	0.530
CCR6	PODXL	psi-mi:“MI:0914”(association)	0.530
FAM241A	SPTLC2	psi-mi:“MI:0914”(association)	0.530
IL27RA	AP1G2	psi-mi:“MI:0914”(association)	0.530
	FER1L5	psi-mi:“MI:0915”(physical association)	0.400
	GNAT3	psi-mi:“MI:0915”(physical association)	0.400
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ISG15	SURF4	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
PDCD1	TMEM223	psi-mi:“MI:0914”(association)	0.350
VIPR2	C15orf61	psi-mi:“MI:0914”(association)	0.350
SLC5A8	GPR89A	psi-mi:“MI:0914”(association)	0.350
SGCA	ACP2	psi-mi:“MI:0914”(association)	0.350
LRRTM2	PTPRD	psi-mi:“MI:0914”(association)	0.350
F3	DAD1	psi-mi:“MI:0914”(association)	0.350

BioGRID (143): DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Proximity Label-MS), DAD1 (Proximity Label-MS), DAD1 (Affinity Capture-MS), DAD1 (PCA), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS), DAD1 (Affinity Capture-MS)

ESM2 similar proteins: A2XSY1, A9CAZ8, B3Y064, B9TRX0, O13113, O15243, O22622, O24060, O65085, O81214, O89013, O95214, O95807, P46967, P52872, P61803, P61804, P61805, P61806, Q0JDK9, Q29036, Q32PD8, Q39080, Q3MHV9, Q3SYT0, Q3ZBX1, Q561T9, Q5E9C2, Q5PQQ4, Q5PSV5, Q5R419, Q5RBB4, Q5RDE9, Q5ZJD9, Q6PDU4, Q7TNK0, Q8I7Z2, Q92535, Q9CQ74, Q9CXL1

Diamond homologs: A2XSY1, E2R4X3, O13113, O14238, O22622, O24060, O65085, O81214, P46964, P46967, P52872, P61803, P61804, P61805, P61806, Q0JDK9, Q29036, Q39080, Q54FB6, Q5E9C2, Q5RBB4, Q8I7Z2, Q9M3T9, Q9SMC4, Q9SME8, Q9SME9, Q9VLM5, Q9ZRA3, Q9ZWQ7

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
DAD1	“form complex”	“OST-A complex”	binding
DAD1	“form complex”	“OST-B complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 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
PD-L1(CD274) glycosylation and translocation to plasma membrane	7	54.2×	8e-09
Maturation of spike protein	6	23.8×	2e-05
Maturation of DENV proteins	6	18.9×	7e-05

GO biological processes:

GO term	Partners	Fold	FDR
obsolete protein N-linked glycosylation via asparagine	5	36.2×	2e-04
protein N-linked glycosylation	6	17.0×	5e-04
T cell activation	5	13.9×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	10

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	Pathogenic

SpliceAI

583 predictions. Top by Δscore:

Variant	Effect	Δscore
14:22575057:A:AC	donor_gain	1.0000
14:22575058:C:CC	donor_gain	1.0000
14:22575058:CATT:C	donor_gain	1.0000
14:22575230:CAAA:C	acceptor_gain	1.0000
14:22575231:AAA:A	acceptor_gain	1.0000
14:22575233:AC:A	acceptor_loss	1.0000
14:22575234:C:CC	acceptor_gain	1.0000
14:22575234:CTG:C	acceptor_loss	1.0000
14:22575235:T:G	acceptor_loss	1.0000
14:22580923:T:TC	acceptor_gain	1.0000
14:22588963:C:CA	donor_gain	1.0000
14:22588964:C:A	donor_gain	1.0000
14:22565135:AACCT:A	acceptor_loss	0.9900
14:22565136:ACCT:A	acceptor_loss	0.9900
14:22565137:CCTAG:C	acceptor_loss	0.9900
14:22565138:C:CC	acceptor_gain	0.9900
14:22565138:CTAGA:C	acceptor_loss	0.9900
14:22565139:T:G	acceptor_loss	0.9900
14:22575057:ACATT:A	donor_gain	0.9900
14:22575058:CA:C	donor_gain	0.9900
14:22575058:CAT:C	donor_gain	0.9900
14:22575058:CATTC:C	donor_gain	0.9900
14:22575229:GCAAA:G	acceptor_gain	0.9900
14:22575230:CAAAC:C	acceptor_gain	0.9900
14:22575232:AA:A	acceptor_gain	0.9900
14:22575237:C:CT	acceptor_gain	0.9900
14:22575240:A:T	acceptor_gain	0.9900
14:22575246:C:CT	acceptor_gain	0.9900
14:22580921:CAT:C	acceptor_gain	0.9900
14:22580923:T:C	acceptor_gain	0.9900

AlphaMissense

724 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:22575154:A:C	F97L	0.998
14:22575154:A:T	F97L	0.998
14:22575156:A:G	F97L	0.998
14:22575224:C:G	R74T	0.998
14:22588964:C:T	G65E	0.998
14:22588965:C:G	G65R	0.998
14:22588965:C:T	G65R	0.998
14:22588982:C:T	G59D	0.998
14:22588983:C:G	G59R	0.998
14:22588988:A:T	L57H	0.998
14:22589005:G:C	F51L	0.998
14:22589005:G:T	F51L	0.998
14:22589007:A:G	F51L	0.998
14:22589045:C:T	G38E	0.998
14:22575108:C:G	G113R	0.997
14:22575112:A:C	F111L	0.997
14:22575112:A:T	F111L	0.997
14:22575114:A:G	F111L	0.997
14:22575223:T:A	R74S	0.997
14:22575223:T:G	R74S	0.997
14:22575224:C:A	R74I	0.997
14:22575227:A:G	L73P	0.997
14:22588990:A:C	F56L	0.997
14:22588990:A:T	F56L	0.997
14:22588992:A:G	F56L	0.997
14:22575146:G:T	A100D	0.996
14:22575155:A:G	F97S	0.996
14:22575161:G:T	A95D	0.996
14:22575231:A:G	C72R	0.996
14:22588960:A:C	S66R	0.996

dbSNP variants (sampled 300 via entrez): RS1000099074 (14:22565540 T>C), RS1000137365 (14:22581560 G>A), RS1000204462 (14:22588770 G>C), RS1000474025 (14:22582961 G>A), RS1000522752 (14:22582723 C>T), RS1000538717 (14:22590030 G>A,C,T), RS1000554172 (14:22565334 T>C), RS1000757403 (14:22590453 C>T), RS1000834866 (14:22571811 G>A,C), RS1000917584 (14:22584402 G>A), RS1001009174 (14:22572340 T>C), RS1001038266 (14:22588933 T>A), RS1001040106 (14:22577226 G>C,T), RS1001099512 (14:22584083 T>G), RS1001155565 (14:22579438 T>C)

Disease associations

OMIM: gene MIM:600243 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST002183_8	Relative hand skill in reading disability	4.000000e-06
GCST003253_7	Microalbuminuria	4.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0009902	handedness

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6067390 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression	3
bisphenol F	increases expression, affects cotreatment	2
bisphenol A	affects expression, increases expression	2
Diethylstilbestrol	increases expression, decreases expression	2
Valproic Acid	affects expression, increases expression	2
Cadmium Chloride	increases abundance, increases palmitoylation, increases expression, decreases reaction	2
Particulate Matter	decreases expression, increases abundance	2
GSK-J4	decreases expression	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
2-bromopalmitate	increases palmitoylation, decreases reaction, increases abundance	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
azoxystrobin	increases expression	1
chloropicrin	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
pyrimidifen	increases expression	1
bisphenol B	increases expression	1
bisphenol S	increases expression	1
LDN 193189	affects cotreatment, decreases expression	1
picoxystrobin	increases expression	1
bisphenol AF	increases expression	1
Arsenic Trioxide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Vehicle Emissions	decreases expression	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Caffeine	decreases expression	1
Cisplatin	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5651232	Binding	Binding affinity to human DAD1 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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