PIGV

Chr 1p36.11

phosphatidylinositol glycan anchor biosynthesis class V

Aliases:: FLJ20477, PIG-V, GPI-MT-II
MANE:: ENST00000674202.1

OMIM: 610274 ↗NCBI: 55650 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PIGV · Q9NUD9

v62025-08-01

Predicted Aligned Error matrix for PIGV — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

90.2/ 100

Very high

493 residues

Confidence breakdown

Very high(≥ 90)79%
Confident(70–90)13%
Low(50–70)4%
Very low(< 50)5%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Clefting
BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

hyperphosphatasia-intellectual disability syndrome
0.75
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
0.50
hereditary disease
0.45
Elevated circulating alkaline phosphatase concentration
0.26
venous thromboembolism
0.17
metabolic dysfunction-associated steatotic liver disease
0.09
Heterotaxia
0.07
metabolic syndrome
0.06
response to combination chemotherapy
0.06
familial thoracic aortic aneurysm and aortic dissection
0.06

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

GPI alpha-1,6-mannosyltransferase 2

Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H3) and participates in the seventh step of the glycosylphosphatidylinositol-anchor biosynthesis (Probable) (PubMed:15623507). May also transfer the second mannose on a 2-acyl-6-[2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H5), but less effectively (Probable)