GenTIGS

Molybdenum cofactor synthesis 2 (MOCS2) Associated conditions: 1. Sulfite oxidase deficiency

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_004531.5	NP_004522.1	NC_000005.10	(53095678..53109756, complement)	Reference GRCh38.p14 Primary Assembly	O96033
2	REVIEWED	NM_176806.4	NP_789776.1	NC_000005.10	(53095678..53109756, complement)	Reference GRCh38.p14 Primary Assembly	O96033

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 137 reference articles

Variant Information Molybdenum cofactor synthesis 2 (MOCS2) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Molybdenum cofactor synthesis 2 (MOCS2)

ClinVar variants:Revealing mutagenic patterns

GO Term of Molybdenum cofactor synthesis 2 (MOCS2)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IPI	enables	protein binding	Function	12732628 16021469
2	Homo sapiens	IDA	located_in	nucleoplasm	Component	-
3	Homo sapiens	IBA	is_active_in	cytosol	Component	21873635
4	Homo sapiens	IDA	located_in	cytosol	Component	15073332
5	Homo sapiens	TAS	located_in	cytosol	Component	-
6	Homo sapiens	IDA	involved_in	Mo-molybdopterin cofactor biosynthetic process	Process	12732628 15073332 16021469
7	Homo sapiens	IDA	located_in	nuclear speck	Component	-
8	Homo sapiens	IPI	part_of	molybdopterin synthase complex	Component	12732628 16021469
9	Homo sapiens	IDA	contributes_to	molybdopterin synthase activity	Function	12732628 15073332
10	Homo sapiens	TAS	enables	molybdopterin synthase activity	Function	-
11	Homo sapiens	TAS	involved_in	molybdopterin cofactor biosynthetic process	Process	-