MOCS2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- MOCS2 (HGNC:7193) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- molybdenum cofactor synthesis 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- MOCO1, MOCS2A, MOCS2B
- %HI
- 38.56(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.07(Read more about gnomAD LOEUF score)
- Cytoband
- 5q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr5:52391509-52405587 NCBI Ensembl UCSC GRCh38/hg38: chr5:53095679-53109757 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004531.5 ENST00000396954.8 (Read more about MANE Select)
- MANE Plus Clinical Transcript(s)
-
NM_176806.4 ENST00000450852.8 (Read more about MANE Plus Clinical) - Function
- Catalytic subunit of the molybdopterin synthase complex, a complex that catalyzes the conversion of precursor Z into molybdopterin. Acts by mediating the incorporation of 2 sulfur atoms from thiocarboxylated MOCS2A into precursor Z to generate a dithiolene group. {ECO:0000255|HAMAP-Rule:MF_03052, ECO:0000269|PubMed:12732628, ECO:0000269|PubMed:15073332}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9179
ClinGen Curation ID:
CCID:007478
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)