GenTIGS

Xanthine dehydrogenase (XDH) Associated conditions: 1. Xanthinuria type II

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000379.4	NP_000370.2	NC_000002.12	(31334320..31414741, complement)	Reference GRCh38.p14 Primary Assembly	P47989

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1158 reference articles

Variant Information Xanthine dehydrogenase (XDH) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Xanthine dehydrogenase (XDH)

ClinVar variants:Revealing mutagenic patterns

GO Term of Xanthine dehydrogenase (XDH)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IDA	involved_in	allantoin metabolic process	Process	1619276
2	Homo sapiens	IDA	involved_in	negative regulation of protein phosphorylation	Process	18386220
3	Homo sapiens	IDA	involved_in	negative regulation of endothelial cell proliferation	Process	18386220
4	Homo sapiens	IBA	enables	xanthine dehydrogenase activity	Function	21873635
5	Homo sapiens	IDA	enables	xanthine dehydrogenase activity	Function	8670112
6	Homo sapiens	IDA	enables	xanthine oxidase activity	Function	8670112 17301077
7	Homo sapiens	IEA	enables	iron ion binding	Function	-
8	Homo sapiens	IPI	enables	protein binding	Function	32296183
9	Homo sapiens	HDA	located_in	extracellular space	Component	16502470
10	Homo sapiens	IBA	is_active_in	extracellular space	Component	21873635
11	Homo sapiens	IEA	located_in	peroxisome	Component	-
12	Homo sapiens	IDA	is_active_in	cytosol	Component	1619276
13	Homo sapiens	TAS	located_in	cytosol	Component	-
14	Homo sapiens	IEA	involved_in	guanine catabolic process	Process	-
15	Homo sapiens	IDA	involved_in	inosine catabolic process	Process	1619276
16	Homo sapiens	IDA	involved_in	deoxyinosine catabolic process	Process	1619276
17	Homo sapiens	IEA	involved_in	adenosine catabolic process	Process	-
18	Homo sapiens	IEA	involved_in	deoxyadenosine catabolic process	Process	-
19	Homo sapiens	IEA	involved_in	deoxyguanosine catabolic process	Process	-
20	Homo sapiens	IDA	involved_in	AMP catabolic process	Process	1619276
21	Homo sapiens	IDA	involved_in	IMP catabolic process	Process	1619276
22	Homo sapiens	IDA	involved_in	activation of cysteine-type endopeptidase activity involved in apoptotic process	Process	18386220
23	Homo sapiens	IEA	involved_in	lactation	Process	-
24	Homo sapiens	IDA	involved_in	hypoxanthine catabolic process	Process	1619276
25	Homo sapiens	IBA	involved_in	xanthine catabolic process	Process	21873635
26	Homo sapiens	IDA	involved_in	xanthine catabolic process	Process	8670112 17301077
27	Homo sapiens	IDA	involved_in	negative regulation of gene expression	Process	18386220
28	Homo sapiens	IEA	involved_in	iron-sulfur cluster assembly	Process	-
29	Homo sapiens	IEA	located_in	sarcoplasmic reticulum	Component	-
30	Homo sapiens	IPI	enables	protein homodimerization activity	Function	17301077
31	Homo sapiens	IDA	enables	molybdopterin cofactor binding	Function	17301077
32	Homo sapiens	IEA	involved_in	amide catabolic process	Process	-
33	Homo sapiens	IDA	involved_in	negative regulation of endothelial cell differentiation	Process	18386220
34	Homo sapiens	IEA	involved_in	GMP catabolic process	Process	-
35	Homo sapiens	IEA	involved_in	dGMP catabolic process	Process	-
36	Homo sapiens	IEA	involved_in	dAMP catabolic process	Process	-
37	Homo sapiens	IDA	enables	flavin adenine dinucleotide binding	Function	17301077
38	Homo sapiens	IDA	enables	2 iron, 2 sulfur cluster binding	Function	17301077
39	Homo sapiens	IDA	involved_in	negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Process	18386220
40	Homo sapiens	IDA	enables	hypoxanthine dehydrogenase activity	Function	1619276
41	Homo sapiens	IEA	enables	hypoxanthine oxidase activity	Function	-
42	Homo sapiens	IEA	enables	FAD binding	Function	-
43	Homo sapiens	IDA	involved_in	positive regulation of p38MAPK cascade	Process	18386220
44	Homo sapiens	IDA	involved_in	negative regulation of vascular endothelial growth factor signaling pathway	Process	18386220
45	Homo sapiens	IDA	involved_in	positive regulation of reactive oxygen species metabolic process	Process	18386220
46	Homo sapiens	IDA	involved_in	negative regulation of vasculogenesis	Process	18386220