Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5283
Gene name	Phosphatidylinositol glycan anchor biosynthesis class H
Gene symbol	PIGH
Synonyms (NCBI Gene)	GPI-H
Chromosome	14
Chromosome location	14q24.1
Summary	This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The

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SNP ID	Visualize variation	Clinical significance	Consequence
rs776038451	A>G	Pathogenic	Coding sequence variant, missense variant

198

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miRTarBase ID	miRNA	Experiments	Reference
MIRT025861	hsa-miR-7-5p	Microarray	17612493
MIRT450755	hsa-miR-2682-3p	PAR-CLIP	22100165
MIRT450754	hsa-miR-6781-3p	PAR-CLIP	22100165
MIRT450755	hsa-miR-2682-3p	PAR-CLIP	22100165
MIRT450754	hsa-miR-6781-3p	PAR-CLIP	22100165
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT1233254	hsa-miR-135a	CLIP-seq
MIRT1233255	hsa-miR-135b	CLIP-seq
MIRT1233256	hsa-miR-145	CLIP-seq
MIRT1233257	hsa-miR-223	CLIP-seq
MIRT1233258	hsa-miR-2964a-5p	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT1233260	hsa-miR-3148	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233263	hsa-miR-3180-5p	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT1233265	hsa-miR-3622a-3p	CLIP-seq
MIRT1233266	hsa-miR-3622b-3p	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT1233268	hsa-miR-3908	CLIP-seq
MIRT1233269	hsa-miR-3936	CLIP-seq
MIRT1233270	hsa-miR-3942-5p	CLIP-seq
MIRT1233271	hsa-miR-3978	CLIP-seq
MIRT1233272	hsa-miR-4328	CLIP-seq
MIRT1233273	hsa-miR-4424	CLIP-seq
MIRT1233274	hsa-miR-4426	CLIP-seq
MIRT1233275	hsa-miR-4457	CLIP-seq
MIRT1233276	hsa-miR-4502	CLIP-seq
MIRT1233277	hsa-miR-4647	CLIP-seq
MIRT1233278	hsa-miR-4662b	CLIP-seq
MIRT1233279	hsa-miR-4697-3p	CLIP-seq
MIRT1233280	hsa-miR-4703-5p	CLIP-seq
MIRT1233281	hsa-miR-4704-3p	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT1233284	hsa-miR-4760-5p	CLIP-seq
MIRT1233285	hsa-miR-4766-3p	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT1233289	hsa-miR-760	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068614	hsa-miR-1197	CLIP-seq
MIRT2068615	hsa-miR-1237	CLIP-seq
MIRT2068616	hsa-miR-1248	CLIP-seq
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT1233254	hsa-miR-135a	CLIP-seq
MIRT1233255	hsa-miR-135b	CLIP-seq
MIRT2068617	hsa-miR-182	CLIP-seq
MIRT2068618	hsa-miR-2052	CLIP-seq
MIRT1233257	hsa-miR-223	CLIP-seq
MIRT1233258	hsa-miR-2964a-5p	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT2068620	hsa-miR-3140-3p	CLIP-seq
MIRT2068621	hsa-miR-3156-5p	CLIP-seq
MIRT2068622	hsa-miR-3158-3p	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT2068623	hsa-miR-3163	CLIP-seq
MIRT2068624	hsa-miR-3176	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233263	hsa-miR-3180-5p	CLIP-seq
MIRT2068625	hsa-miR-3545-3p	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT2068626	hsa-miR-3674	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT2068627	hsa-miR-3922-3p	CLIP-seq
MIRT2068628	hsa-miR-3941	CLIP-seq
MIRT2068629	hsa-miR-3977	CLIP-seq
MIRT1233272	hsa-miR-4328	CLIP-seq
MIRT1233273	hsa-miR-4424	CLIP-seq
MIRT1233274	hsa-miR-4426	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT2068631	hsa-miR-4470	CLIP-seq
MIRT1233276	hsa-miR-4502	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT1233277	hsa-miR-4647	CLIP-seq
MIRT2068633	hsa-miR-4659a-3p	CLIP-seq
MIRT2068634	hsa-miR-4659b-3p	CLIP-seq
MIRT2068635	hsa-miR-466	CLIP-seq
MIRT1233278	hsa-miR-4662b	CLIP-seq
MIRT2068636	hsa-miR-4672	CLIP-seq
MIRT2068637	hsa-miR-4677-3p	CLIP-seq
MIRT2068638	hsa-miR-4679	CLIP-seq
MIRT2068639	hsa-miR-4682	CLIP-seq
MIRT1233279	hsa-miR-4697-3p	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT2068640	hsa-miR-4719	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT2068641	hsa-miR-4731-3p	CLIP-seq
MIRT1233284	hsa-miR-4760-5p	CLIP-seq
MIRT2068642	hsa-miR-4793-5p	CLIP-seq
MIRT2068643	hsa-miR-4801	CLIP-seq
MIRT2068644	hsa-miR-513b	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT2068645	hsa-miR-548aa	CLIP-seq
MIRT2068646	hsa-miR-548n	CLIP-seq
MIRT2068647	hsa-miR-562	CLIP-seq
MIRT2068648	hsa-miR-563	CLIP-seq
MIRT2068649	hsa-miR-570	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT2068650	hsa-miR-646	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq
MIRT2068615	hsa-miR-1237	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq
MIRT2392504	hsa-miR-3121-5p	CLIP-seq
MIRT2392505	hsa-miR-4667-3p	CLIP-seq
MIRT2392506	hsa-miR-9	CLIP-seq
MIRT2068614	hsa-miR-1197	CLIP-seq
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT2593645	hsa-miR-132	CLIP-seq
MIRT2068618	hsa-miR-2052	CLIP-seq
MIRT2593646	hsa-miR-212	CLIP-seq
MIRT1233257	hsa-miR-223	CLIP-seq
MIRT1233258	hsa-miR-2964a-5p	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT1233260	hsa-miR-3148	CLIP-seq
MIRT2068621	hsa-miR-3156-5p	CLIP-seq
MIRT2068622	hsa-miR-3158-3p	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT2068626	hsa-miR-3674	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT1233269	hsa-miR-3936	CLIP-seq
MIRT2068628	hsa-miR-3941	CLIP-seq
MIRT1233271	hsa-miR-3978	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT1233275	hsa-miR-4457	CLIP-seq
MIRT2593647	hsa-miR-4477a	CLIP-seq
MIRT1233276	hsa-miR-4502	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT2068633	hsa-miR-4659a-3p	CLIP-seq
MIRT2068634	hsa-miR-4659b-3p	CLIP-seq
MIRT2068635	hsa-miR-466	CLIP-seq
MIRT2068636	hsa-miR-4672	CLIP-seq
MIRT2068637	hsa-miR-4677-3p	CLIP-seq
MIRT2068638	hsa-miR-4679	CLIP-seq
MIRT1233279	hsa-miR-4697-3p	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT2068641	hsa-miR-4731-3p	CLIP-seq
MIRT2068643	hsa-miR-4801	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT2068650	hsa-miR-646	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq
MIRT2068614	hsa-miR-1197	CLIP-seq
MIRT1233253	hsa-miR-1278	CLIP-seq
MIRT2593645	hsa-miR-132	CLIP-seq
MIRT2068618	hsa-miR-2052	CLIP-seq
MIRT2593646	hsa-miR-212	CLIP-seq
MIRT1233259	hsa-miR-3074-5p	CLIP-seq
MIRT2068619	hsa-miR-3136-5p	CLIP-seq
MIRT1233260	hsa-miR-3148	CLIP-seq
MIRT2068621	hsa-miR-3156-5p	CLIP-seq
MIRT2068622	hsa-miR-3158-3p	CLIP-seq
MIRT1233261	hsa-miR-3160-5p	CLIP-seq
MIRT1233262	hsa-miR-3179	CLIP-seq
MIRT1233264	hsa-miR-3617	CLIP-seq
MIRT2068626	hsa-miR-3674	CLIP-seq
MIRT1233267	hsa-miR-370	CLIP-seq
MIRT1233269	hsa-miR-3936	CLIP-seq
MIRT2068628	hsa-miR-3941	CLIP-seq
MIRT1233271	hsa-miR-3978	CLIP-seq
MIRT2068630	hsa-miR-4439	CLIP-seq
MIRT1233275	hsa-miR-4457	CLIP-seq
MIRT2593647	hsa-miR-4477a	CLIP-seq
MIRT2068632	hsa-miR-4513	CLIP-seq
MIRT2068633	hsa-miR-4659a-3p	CLIP-seq
MIRT2068634	hsa-miR-4659b-3p	CLIP-seq
MIRT2068635	hsa-miR-466	CLIP-seq
MIRT2068636	hsa-miR-4672	CLIP-seq
MIRT2068637	hsa-miR-4677-3p	CLIP-seq
MIRT2068638	hsa-miR-4679	CLIP-seq
MIRT1233282	hsa-miR-4712-5p	CLIP-seq
MIRT1233283	hsa-miR-4724-5p	CLIP-seq
MIRT2068641	hsa-miR-4731-3p	CLIP-seq
MIRT2068643	hsa-miR-4801	CLIP-seq
MIRT1233286	hsa-miR-513c	CLIP-seq
MIRT1233287	hsa-miR-514b-5p	CLIP-seq
MIRT1233288	hsa-miR-641	CLIP-seq
MIRT2068650	hsa-miR-646	CLIP-seq
MIRT2068651	hsa-miR-7	CLIP-seq
MIRT1233290	hsa-miR-770-5p	CLIP-seq
MIRT2068652	hsa-miR-892a	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	10944123, 16162815
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IEA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI	16162815
GO:0003824	Function	Catalytic activity	TAS	8900170
GO:0005515	Function	Protein binding	IPI	8900170, 9463366, 10944123, 16162815, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	8900170
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IDA	16162815
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	TAS	8900170
GO:0036211	Process	Protein modification process	TAS	8900170

MIM	HGNC	e!Ensembl
600154	8964	ENSG00000100564

Q14442

Protein name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H (Phosphatidylinositol-glycan biosynthesis class H protein) (PIG-H)

Protein function

Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynth

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10181	PIG-H	89 → 158	GPI-GlcNAc transferase complex, PIG-H component	Family

Sequence

MEDERSFSDICGGRLALQRRYYSPSCREFCLSCPRLSLRSLTAVTCTVWLAAYGLFTLCE
NSMILSAAIFITLLGLLGYLHFVKIDQETLLIIDSLGIQMTSSYASGKESTTFIEMGKVK
DIVINEAIYMQKVIYYLCILLKDPVEPHGISQVVPVFQSAKPRLDCLIEVYRSCQEILAH
QKATSTSP

Sequence length

188

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Synthesis of glycosylphosphatidylinositol (GPI)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glycosylphosphatidylinositol biosynthesis defect 17	Pathogenic	rs761543313, rs776038451	RCV000656656 RCV000656657

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
PIGH-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs370763975, rs190869461, rs150966448, rs28521930, rs45474396, rs10134513, rs201381653	RCV003416465 RCV003938922 RCV003929050 RCV003919788 RCV003973923 RCV003914591 RCV003942239
Prostate cancer	Uncertain significance	rs193920948	RCV000149159

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Developmental Disabilities	Associate	33156547
Fractures Bone	Associate	33156547
Immunologic Deficiency Syndromes	Associate	33156547
Intellectual Disability	Associate	33156547
Mobility Limitation	Associate	33156547
Muscle Hypotonia	Associate	33156547
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	30370942
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	30370942
Psychomotor Disorders	Associate	33156547
Scoliosis	Associate	33156547
Seizures	Associate	33156547

PIGH (phosphatidylinositol glycan anchor biosynthesis class H)