EOGT

Summary

EOGT (EGF domain specific O-linked N-acetylglucosamine transferase, HGNC:28526) is a protein-coding gene on chromosome 3p14.1, encoding EGF domain-specific O-linked N-acetylglucosamine transferase (Q5NDL2). Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc).

This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 285203 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Adams-Oliver syndrome 4 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 1
• Clinical variants (ClinVar): 290 total — 9 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 58
• MANE Select transcript: NM_001278689

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28526
Approved symbol	EOGT
Name	EGF domain specific O-linked N-acetylglucosamine transferase
Location	3p14.1
Locus type	gene with protein product
Status	Approved
Aliases	AER61, FLJ33770
Ensembl gene	ENSG00000163378
Ensembl biotype	protein_coding
OMIM	614789
Entrez	285203

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000295571, ENST00000383701, ENST00000403140, ENST00000424374, ENST00000456376, ENST00000480846, ENST00000496647, ENST00000615922, ENST00000894422, ENST00000946371

RefSeq mRNA: 2 — MANE Select: NM_001278689 NM_001278689, NM_173654

CCDS: CCDS2908, CCDS63684

Canonical transcript exons

ENST00000383701 — 18 exons

Exon	Start	End
ENSE00001175752	69001608	69001714
ENSE00001373360	69012515	69012799
ENSE00001675515	69011936	69011991
ENSE00001821282	69013574	69013684
ENSE00001880984	68975225	68977764
ENSE00003493849	68998011	68998114
ENSE00003501208	68979668	68979787
ENSE00003503731	68978333	68978435
ENSE00003539151	68988925	68989017
ENSE00003546099	68982811	68982872
ENSE00003566214	68988295	68988381
ENSE00003599733	68987445	68987513
ENSE00003651688	69009637	69009860
ENSE00003676633	68988506	68988577
ENSE00003716483	69008428	69008528
ENSE00003722712	69004378	69004482
ENSE00003741694	69005140	69005234
ENSE00003753389	69007713	69007821

Expression profiles

Bgee: expression breadth ubiquitous, 270 present calls, max score 96.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.8064 / max 145.5846, expressed in 1793 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42948	11.2353	1783
42947	1.4947	964
42946	1.0190	607
42945	0.0574	32

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood vessel layer	UBERON:0004797	96.56	gold quality
thoracic aorta	UBERON:0001515	96.06	gold quality
ascending aorta	UBERON:0001496	96.04	gold quality
right coronary artery	UBERON:0001625	95.86	gold quality
descending thoracic aorta	UBERON:0002345	95.67	gold quality
aorta	UBERON:0000947	95.45	gold quality
right lung	UBERON:0002167	95.43	gold quality
tibial artery	UBERON:0007610	95.12	gold quality
popliteal artery	UBERON:0002250	95.11	gold quality
calcaneal tendon	UBERON:0003701	94.91	gold quality
artery	UBERON:0001637	94.85	gold quality
mucosa of stomach	UBERON:0001199	94.67	gold quality
lower esophagus muscularis layer	UBERON:0035833	94.32	gold quality
lower esophagus	UBERON:0013473	94.28	gold quality
left coronary artery	UBERON:0001626	94.19	gold quality
coronary artery	UBERON:0001621	93.34	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.07	gold quality
secondary oocyte	CL:0000655	92.57	gold quality
right atrium auricular region	UBERON:0006631	91.94	gold quality
upper lobe of left lung	UBERON:0008952	91.66	gold quality
body of uterus	UBERON:0009853	91.66	gold quality
upper lobe of lung	UBERON:0008948	91.64	gold quality
left uterine tube	UBERON:0001303	91.40	gold quality
lower lobe of lung	UBERON:0008949	91.32	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.79	gold quality
cardiac atrium	UBERON:0002081	90.40	gold quality
myometrium	UBERON:0001296	90.25	gold quality
oocyte	CL:0000023	90.10	gold quality
prostate gland	UBERON:0002367	90.04	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	89.88	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	16.39
E-ANND-3	yes	7.25
E-GEOD-109979	no	278.25

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

146 targeting EOGT, 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-6867-5P	100.00	82.21	3464
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-188-3P	100.00	68.76	1240
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-6873-3P	100.00	71.42	2626
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-10523-5P	99.91	69.22	2038
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-4753-3P	99.90	71.03	3786

Literature-anchored findings (GeneRIF, showing 8)

• Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. (PMID:23522784)
• c.1074delA mutation segregates with Adams-Oliver syndrome in the Bedouin family. (PMID:23860037)
• Eogt resulted in defective retinal angiogenesis, with a mild phenotype similar to that caused by reduced Notch signaling in retina. Combined deficiency of different Notch1 mutant alleles exacerbated the abnormalities in Eogt(-/-) retina, and Notch target gene expression was decreased in Eogt(-/-)endothelial cells. (PMID:28395734)
• Studies provide evidence that mutations in EOGT lead to autosomal recessive Adams-Oliver Syndrome. [review] (PMID:28408480)
• Analysis of midluteal endometrial biopsies revealed an inverse correlation between endometrial EOGT and ENHO expression and body mass index. obesity impairs the EOGT-adropin axis in decidual cells, which in turn points toward a mechanistic link between metabolic disorders and adverse pregnancy outcome. (PMID:29244071)
• SHCBP1 interacting with EOGT enhances O-GlcNAcylation of NOTCH1 and promotes the development of pancreatic cancer. (PMID:33515675)
• Bioinformatics and Functional Analyses Implicate Potential Roles for EOGT and L-fringe in Pancreatic Cancers. (PMID:33562410)
• EOGT Correlated With Immune Infiltration: A Candidate Prognostic Biomarker for Hepatocellular Carcinoma. (PMID:35069551)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	eogt	ENSDARG00000022853
mus_musculus	Eogt	ENSMUSG00000035245
rattus_norvegicus	Eogt	ENSRNOG00000024533
drosophila_melanogaster	Eogt	FBGN0264672
caenorhabditis_elegans		WBGENE00010386

Paralogs (1): POMGNT2 (ENSG00000144647)

Protein

Protein identifiers

EGF domain-specific O-linked N-acetylglucosamine transferase — Q5NDL2 (reviewed: Q5NDL2)

Alternative names: Extracellular O-linked N-acetylglucosamine transferase

All UniProt accessions (5): C9J4G5, C9JQM7, Q5NDL2, F5H225, Q8N329

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N-acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains.

Subcellular location. Endoplasmic reticulum lumen.

Disease relevance. Adams-Oliver syndrome 4 (AOS4) [MIM:615297] A form of Adams-Oliver syndrome, a disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the glycosyltransferase 61 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q5NDL2-1	1	yes
Q5NDL2-2	2
Q5NDL2-3	3

RefSeq proteins (2): NP_001265618, NP_775925 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007657	Glycosyltransferase_61	Family
IPR049625	Glyco_transf_61_cat	Domain

Pfam: PF04577

Enzyme classification (BRENDA):

• EC 2.4.1.255 — protein O-GlcNAc transferase (BRENDA: 18 organisms, 176 substrates, 88 inhibitors, 47 Km, 12 kcat entries)

Substrate kinetics (BRENDA)

12 substrates with measured Km, best-characterized 12. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
UDP-GLCNAC	0.0005–11.8	25
[FULL-LENGTH O-GLCNACASE/D175N PROTEIN]-L-SERINE	0.0244–0.134	6
NUP62	—	2
PGGSTPVSSANMM	0.107–0.215	2
UDP-N-ACETYL-ALPHA-D-GLUCOSAMINE	0.1757–0.1805	2
UDP-N-AZIDOACETYLGLUCOSAMINE	0.0047–0.0085	2
NUP 62 PROTEIN	0.0012	1
OIP106 PROTEIN	0.0034	1
UDP-4-DEOXY-GALNAC	0.3695	1
UDP-6-DEOXY-GLCNAC	0.1418	1
UDP-GLCNPR	0.2821	1
YSDSPSTST	0.16	1

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl)-L-seryl-[protein] + UDP + H(+) (RHEA:48904)
• L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = 3-O-(N-acetyl-beta-D-glucosaminyl)-L-threonyl-[protein] + UDP + H(+) (RHEA:48908)

UniProt features (14 total): sequence conflict 3, splice variant 3, short sequence motif 2, sequence variant 2, signal peptide 1, chain 1, mutagenesis site 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5NDL2-F1	91.71	0.83

Functional residue map

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

Glycosylation sites (1): 354

Mutagenesis-validated functional residues (1):

Position	Phenotype
295–297	partial loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 300 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_UP, WALLACE_PROSTATE_CANCER_RACE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, JAATINEN_HEMATOPOIETIC_STEM_CELL_UP, BOQUEST_STEM_CELL_DN, chr3p14, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_DN, GOCC_ENDOPLASMIC_RETICULUM_LUMEN

GO Biological Process (2): protein O-linked glycosylation (GO:0006493), obsolete protein O-GlcNAcylation via threonine (GO:0097370)

GO Molecular Function (4): protein O-acetylglucosaminyltransferase activity (GO:0097363), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
acetylglucosaminyltransferase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
transferase activity	1
endoplasmic reticulum	1
intracellular organelle lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

732 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EOGT	POGLUT1	Q8NBL1	772
EOGT	POFUT1	Q9H488	749
EOGT	OGT	O15294	726
EOGT	DOCK6	Q96HP0	712
EOGT	ARHGAP31	Q2M1Z3	669
EOGT	OGA	O60502	581
EOGT	XXYLT1	Q8NBI6	576
EOGT	TTC7A	Q9ULT0	561
EOGT	B3GALNT2	Q8NCR0	527
EOGT	POGLUT2	Q6UW63	520
EOGT	POGLUT3	Q7Z4H8	515
EOGT	POMT2	Q9UKY4	506
EOGT	RBPJ	Q06330	506
EOGT	GXYLT1	Q4G148	502
EOGT	POMT1	Q9Y6A1	473

IntAct

74 interactions, top by confidence:

A	B	Type	Score
SCGB1D1	FAM234B	psi-mi:“MI:0914”(association)	0.530
PSG8	PEX7	psi-mi:“MI:0914”(association)	0.530
PRG3	ZNF324	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
TRAC	COCH	psi-mi:“MI:0914”(association)	0.530
IFI30	PRC1	psi-mi:“MI:0914”(association)	0.530
INSL5	COCH	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
C1orf54	EXTL3	psi-mi:“MI:0914”(association)	0.530
OS9	AGRN	psi-mi:“MI:0914”(association)	0.530
LRRK2	EOGT	psi-mi:“MI:0407”(direct interaction)	0.440
EOGT	H1-5	psi-mi:“MI:0915”(physical association)	0.400
Tpx2	NFKBIE	psi-mi:“MI:0914”(association)	0.350
RACGAP1	STX18	psi-mi:“MI:0914”(association)	0.350
SAMD9	TRAPPC13	psi-mi:“MI:0914”(association)	0.350
Mta2	MTA3	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
F9	DDX11L8	psi-mi:“MI:0914”(association)	0.350
PLAUR	DDX11L8	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
INSL5	LAMA5	psi-mi:“MI:0914”(association)	0.350
LYZL1	MANBA	psi-mi:“MI:0914”(association)	0.350
LYPD1	HSPA5	psi-mi:“MI:0914”(association)	0.350
A2M	PZP	psi-mi:“MI:0914”(association)	0.350

BioGRID (85): EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Reconstituted Complex), N (Reconstituted Complex), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS), EOGT (Affinity Capture-MS)

ESM2 similar proteins: A0JND3, B7ZWR7, F4HXW9, F4I6V0, F4KF16, O43909, O81053, P97259, Q08834, Q08CD5, Q08CY9, Q09328, Q5F2N4, Q5NDE4, Q5NDE5, Q5NDE6, Q5NDE7, Q5NDE8, Q5NDL0, Q5NDL1, Q5NDL2, Q5NDL3, Q5NDL9, Q6A1G3, Q6E279, Q6GQ23, Q6NQ51, Q6NTZ6, Q6P4F1, Q84TJ0, Q8AWB5, Q8BYW9, Q8GUM0, Q8H1E6, Q8LNP3, Q8LPF8, Q8R4G6, Q8VDX6, Q8W486, Q9M5Q1

Diamond homologs: A0JND3, Q08CY9, Q5NDE5, Q5NDL0, Q5NDL1, Q5NDL2, Q5NDL3, Q5NDL9, Q6GQ23, Q8BYW9, Q9VQB7, Q5NDE7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	4
Uncertain significance	103
Likely benign	100
Benign	49

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1989739	NM_001278689.2(EOGT):c.1234C>T (p.Gln412Ter)	Pathogenic
3246930	NC_000003.11:g.(?69058895)(69061253_?)del	Pathogenic
4692486	NM_001278689.2(EOGT):c.196_199del (p.Leu66fs)	Pathogenic
523579	NM_001278689.2(EOGT):c.311+1G>T	Pathogenic
523580	NM_001278689.2(EOGT):c.404G>A (p.Cys135Tyr)	Pathogenic
523593	NM_001278689.2(EOGT):c.78_81del (p.His27fs)	Pathogenic
523612	NM_001278689.2(EOGT):c.1335-1G>A	Pathogenic
55816	NM_001278689.2(EOGT):c.620G>C (p.Trp207Ser)	Pathogenic
55818	NM_001278689.2(EOGT):c.1130G>A (p.Arg377Gln)	Pathogenic
2741011	NM_001278689.2(EOGT):c.831+1G>A	Likely pathogenic
3910368	NM_001278689.2(EOGT):c.961del (p.Arg321fs)	Likely pathogenic
4845664	NM_001278689.2(EOGT):c.924+1del	Likely pathogenic
567459	NM_001278689.2(EOGT):c.831+2T>C	Likely pathogenic

SpliceAI

2620 predictions. Top by Δscore:

Variant	Effect	Δscore
3:68977762:GCCCT:G	acceptor_loss	1.0000
3:68977764:CCTGT:C	acceptor_loss	1.0000
3:68977765:C:CA	acceptor_loss	1.0000
3:68978327:CTTTA:C	donor_loss	1.0000
3:68978328:TTTAC:T	donor_loss	1.0000
3:68978329:TTA:T	donor_loss	1.0000
3:68978330:TACC:T	donor_loss	1.0000
3:68978331:A:C	donor_loss	1.0000
3:68978332:C:CA	donor_loss	1.0000
3:68978336:AT:A	donor_gain	1.0000
3:68978432:GTACC:G	acceptor_loss	1.0000
3:68978433:TACCT:T	acceptor_loss	1.0000
3:68978434:ACCT:A	acceptor_loss	1.0000
3:68978435:CCTA:C	acceptor_loss	1.0000
3:68978436:C:CC	acceptor_gain	1.0000
3:68978436:C:CG	acceptor_loss	1.0000
3:68978437:T:A	acceptor_loss	1.0000
3:68979796:A:C	acceptor_gain	1.0000
3:68979808:A:C	acceptor_gain	1.0000
3:68982869:CAAG:C	acceptor_gain	1.0000
3:68982870:AAGC:A	acceptor_loss	1.0000
3:68982872:GCTGG:G	acceptor_loss	1.0000
3:68982873:C:CC	acceptor_gain	1.0000
3:68982873:CT:C	acceptor_loss	1.0000
3:68982874:T:C	acceptor_loss	1.0000
3:68987443:ACCTC:A	donor_loss	1.0000
3:68987509:CCATC:C	acceptor_gain	1.0000
3:68987510:CATC:C	acceptor_gain	1.0000
3:68987510:CATCC:C	acceptor_gain	1.0000
3:68987512:TC:T	acceptor_gain	1.0000

AlphaMissense

3521 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:68977729:G:C	F491L	0.999
3:68977729:G:T	F491L	0.999
3:68977731:A:G	F491L	0.999
3:68998090:C:T	C251Y	0.999
3:68998100:G:C	H248D	0.999
3:68977730:A:G	F491S	0.998
3:68987467:C:G	R377P	0.998
3:68998089:A:C	C251W	0.998
3:68998098:G:C	H248Q	0.998
3:68998098:G:T	H248Q	0.998
3:68998107:G:C	N245K	0.998
3:68998107:G:T	N245K	0.998
3:68977730:A:C	F491C	0.997
3:68977732:C:A	K490N	0.997
3:68977732:C:G	K490N	0.997
3:68979713:A:G	L430P	0.997
3:68998077:A:C	N255K	0.997
3:68998077:A:T	N255K	0.997
3:68998090:C:A	C251F	0.997
3:68998103:A:C	Y247D	0.997
3:68978397:G:T	A458D	0.996
3:68979722:C:T	G427E	0.996
3:68998019:A:G	W275R	0.996
3:68998019:A:T	W275R	0.996
3:68998075:A:G	L256P	0.996
3:68998087:T:A	D252V	0.996
3:68998088:C:G	D252H	0.996
3:68998091:A:G	C251R	0.996
3:68998100:G:T	H248N	0.996
3:68998103:A:G	Y247H	0.996

dbSNP variants (sampled 300 via entrez): RS1000136645 (3:69011425 A>C), RS1000184811 (3:68985247 T>G), RS1000344979 (3:69011466 G>A), RS1000375557 (3:69000346 T>C), RS1000419995 (3:69000129 G>A), RS1000455969 (3:68995884 G>T), RS1000510571 (3:69011157 C>T), RS1000545653 (3:69014935 T>C), RS1000650791 (3:68990191 T>C), RS1000690607 (3:68990386 C>G,T), RS1000746365 (3:69000095 A>T), RS1000836434 (3:69004278 A>T), RS1000866465 (3:68976011 T>A,C,G), RS1001033173 (3:68981142 T>C), RS1001173733 (3:68980113 AAGT>A)

Disease associations

OMIM: gene MIM:614789 | disease phenotypes: MIM:615297, MIM:100300

GenCC curated gene-disease

Disease	Classification	Inheritance
Adams-Oliver syndrome 4	Definitive	Autosomal recessive
Adams-Oliver syndrome	Supportive	Autosomal dominant

Mondo (2): Adams-Oliver syndrome 4 (MONDO:0014124), Adams-Oliver syndrome (MONDO:0007034)

Orphanet (1): Adams-Oliver syndrome (Orphanet:974)

HPO phenotypes

58 total (30 of 58 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000238	Hydrocephalus
HP:0000486	Strabismus
HP:0000518	Cataract
HP:0000568	Microphthalmia
HP:0000965	Cutis marmorata
HP:0001057	Aplasia cutis congenita
HP:0001156	Brachydactyly
HP:0001171	Split hand
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001269	Hemiparesis
HP:0001276	Hypertonia
HP:0001362	Calvarial skull defect
HP:0001394	Cirrhosis
HP:0001409	Portal hypertension
HP:0001508	Failure to thrive
HP:0001537	Umbilical hernia
HP:0001541	Ascites
HP:0001596	Alopecia
HP:0001622	Premature birth
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001636	Tetralogy of Fallot
HP:0001641	Abnormal pulmonary valve morphology
HP:0001643	Patent ductus arteriosus
HP:0001800	Hypoplastic toenails
HP:0001804	Hypoplastic fingernail
HP:0001817	Absent fingernail
HP:0001831	Short toe

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST010143_29	Meat-related diet	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0008111	diet measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C538225	Adams Oliver syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases expression	8
trichostatin A	affects cotreatment, increases expression	3
sodium arsenite	decreases expression	2
mercuric bromide	increases expression, affects cotreatment	2
entinostat	increases expression, affects cotreatment	2
Vorinostat	affects cotreatment, increases expression	2
Panobinostat	affects cotreatment, increases expression	2
Air Pollutants	increases expression, decreases expression, affects cotreatment, increases abundance	2
Benzo(a)pyrene	decreases methylation, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
bisphenol F	affects cotreatment, decreases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	increases expression, increases abundance, affects cotreatment	1
cobaltous chloride	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctanoic acid	increases expression	1
potassium chromate(VI)	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
pentanal	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
bisphenol S	increases methylation	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Acrolein	increases expression, increases abundance, affects cotreatment	1
Cadmium	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E1W2	HAP1 EOGT (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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