Gene table of ENPP1 : ectonucleotide pyrophosphatase/phosphodiesterase 1

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ENPP1	OMIM link	Number of associated genes	genes
PS193100	HYPOPHOSPHATEMIC RICKETS	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	FGF23, DMP1, ENPP1, CLCN5, PHEX
615522	COLE DISEASE	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	ENPP1
125853	DIABETES MELLITUS, NONINSULIN-DEPENDENT	ClinVar, OMIM	link to OMIM	33	SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11
601665	OBESITY	OMIM	link to OMIM	15	AGRP, PPARGC1B, PPARG, MC4R, ADRB3, CARTPT, UCP3, SIM1, POMC, ENPP1, ADRB2, SDC3, NR0B2, UCP1, GHRL
PS208000	GENERALIZED ARTERIAL CALCIFICATION OF INFANCY	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	ENPP1, ABCC6

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Annotation of the gene ENPP1

Associated genes in ENSEMBL

ENSG00000197594

Associated proteins - SwissProt Accession ID

P22413

Associated PDB IDs

2ys0

Cytogenetic Band

6q23.2

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Nicotinate and nicotinamide metabolism	hsa00760	8.01
Metabolic pathways	hsa01100	2.49
Riboflavin metabolism	hsa00740	9.18
Pantothenate and CoA biosynthesis	hsa00770	8.68
Starch and sucrose metabolism	hsa00500	6.91
Purine metabolism	hsa00230	5.28

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Metabolism	R-HSA-1430728	2.34
Vitamin B2 (riboflavin) metabolism	R-HSA-196843	10.66

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein complex binding	GO:0032403	3.09
cargo receptor activity	GO:0038024	5.53
purine ribonucleoside triphosphate binding	GO:0035639	2.22
polysaccharide binding	GO:0030247	6.65
carbohydrate binding	GO:0030246	4.17
phosphoric ester hydrolase activity	GO:0042578	3.82
molecular transducer activity	GO:0060089	2.32
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
ion binding	GO:0043167	1.36
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
sulfur compound binding	GO:1901681	4.32
cation binding	GO:0043169	1.4
phosphodiesterase I activity	GO:0004528	8.13
transition metal ion binding	GO:0046914	2.48
phosphoric diester hydrolase activity	GO:0008081	5.23
exonuclease activity	GO:0004527	5.33
nucleoside phosphate binding	GO:1901265	1.96
nucleotide binding	GO:0000166	1.96
identical protein binding	GO:0042802	2.63
calcium ion binding	GO:0005509	3.17
ribonucleoside binding	GO:0032549	2.22
receptor activity	GO:0004872	2.32
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
protein homodimerization activity	GO:0042803	3.16
hydrolase activity	GO:0016787	1.9
insulin receptor binding	GO:0005158	6.27
hydrolase activity, acting on ester bonds	GO:0016788	3.1
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
nucleoside-triphosphate diphosphatase activity	GO:0047429	7.66
NADH pyrophosphatase activity	GO:0035529	8.64
protein dimerization activity	GO:0046983	2.72
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
adenyl nucleotide binding	GO:0030554	2.4
nuclease activity	GO:0004518	4.33
organic cyclic compound binding	GO:0097159	1.05
3'-phosphoadenosine 5'-phosphosulfate binding	GO:0050656	7.95
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
purine ribonucleoside binding	GO:0032550	2.22
carbohydrate derivative binding	GO:0097367	2.03
adenyl ribonucleotide binding	GO:0032559	2.41
nucleotide diphosphatase activity	GO:0004551	7.54
protein binding	GO:0005515	0.46
scavenger receptor activity	GO:0005044	5.91
purine ribonucleotide binding	GO:0032555	2.2
receptor binding	GO:0005102	2.43
pyrophosphatase activity	GO:0016462	3.04
pattern binding	GO:0001871	6.65
ribonucleotide binding	GO:0032553	2.19
zinc ion binding	GO:0008270	2.66