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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54872
Gene name Gene Name - the full gene name approved by the HGNC.	Phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PIGG
Synonyms (NCBI Gene) Gene synonyms aliases	EMM, GPI7, LAS21, MRT53, NEDHSCA, PRO4405, RLGS1930
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p16.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinosito

Show/Hide all(14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs150259543	G>A	Pathogenic	3 prime UTR variant, stop gained, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs150802299	A>C	Likely-pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, missense variant, non coding transcript variant
rs372392424	C>T	Pathogenic	Genic downstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, missense variant
rs752545577	C>T	Pathogenic	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs757141700	A>C,G	Likely-pathogenic	5 prime UTR variant, initiator codon variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs771819481	TA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, non coding transcript variant
rs869320772	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs869320773	G>C	Pathogenic	Genic downstream transcript variant, non coding transcript variant, splice donor variant
rs1294683568	C>T	Pathogenic	Stop gained, intron variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1491240980	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1553897582	ACTT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant, genic downstream transcript variant
rs1560330387	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, intron variant, stop gained
rs1577094794	->T	Pathogenic	3 prime UTR variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577095404	AC>G	Pathogenic	3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021138	hsa-miR-186-5p	Sequencing	20371350
MIRT052101	hsa-let-7b-5p	CLASH	23622248
MIRT711192	hsa-miR-606	HITS-CLIP	19536157
MIRT711191	hsa-miR-532-5p	HITS-CLIP	19536157
MIRT711190	hsa-miR-5193	HITS-CLIP	19536157
MIRT711189	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT711188	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT711187	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT711186	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT711185	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT711184	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT711183	hsa-miR-4633-5p	HITS-CLIP	19536157
MIRT711182	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT711181	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT648527	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT648526	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT648525	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT648524	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT648523	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT648522	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT648521	hsa-miR-3666	HITS-CLIP	23824327
MIRT648520	hsa-miR-4295	HITS-CLIP	23824327
MIRT648519	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT648518	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT648517	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT648516	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648515	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT648514	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT648513	hsa-miR-3655	HITS-CLIP	23824327
MIRT648512	hsa-miR-3135b	HITS-CLIP	23824327
MIRT648511	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT648510	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT648509	hsa-miR-3652	HITS-CLIP	23824327
MIRT648508	hsa-miR-4430	HITS-CLIP	23824327
MIRT648507	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT648506	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648505	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT631861	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT631860	hsa-miR-764	HITS-CLIP	23824327
MIRT631859	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT631858	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631857	hsa-miR-1913	HITS-CLIP	23824327
MIRT631856	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT631855	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT631854	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT631853	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT631852	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT631851	hsa-miR-4313	HITS-CLIP	23824327
MIRT631850	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT631849	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT631848	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT711192	hsa-miR-606	HITS-CLIP	19536157
MIRT711191	hsa-miR-532-5p	HITS-CLIP	19536157
MIRT711190	hsa-miR-5193	HITS-CLIP	19536157
MIRT711189	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT711188	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT711187	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT711186	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT711185	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT711184	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT711183	hsa-miR-4633-5p	HITS-CLIP	19536157
MIRT711182	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT711181	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT648527	hsa-miR-5197-5p	HITS-CLIP	23824327
MIRT648526	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT648525	hsa-miR-130a-3p	HITS-CLIP	23824327
MIRT648524	hsa-miR-130b-3p	HITS-CLIP	23824327
MIRT648523	hsa-miR-301a-3p	HITS-CLIP	23824327
MIRT648522	hsa-miR-301b-3p	HITS-CLIP	23824327
MIRT648521	hsa-miR-3666	HITS-CLIP	23824327
MIRT648520	hsa-miR-4295	HITS-CLIP	23824327
MIRT648519	hsa-miR-454-3p	HITS-CLIP	23824327
MIRT648518	hsa-miR-183-5p	HITS-CLIP	23824327
MIRT648517	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT648516	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT648515	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT648514	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT648513	hsa-miR-3655	HITS-CLIP	23824327
MIRT648512	hsa-miR-3135b	HITS-CLIP	23824327
MIRT648511	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT648510	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT648509	hsa-miR-3652	HITS-CLIP	23824327
MIRT648508	hsa-miR-4430	HITS-CLIP	23824327
MIRT648507	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT648506	hsa-miR-106a-3p	HITS-CLIP	23824327
MIRT648505	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT631861	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT631860	hsa-miR-764	HITS-CLIP	23824327
MIRT631859	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT631858	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT631857	hsa-miR-1913	HITS-CLIP	23824327
MIRT631856	hsa-miR-324-3p	HITS-CLIP	23824327
MIRT631855	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT631854	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT631853	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT631852	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT631851	hsa-miR-4313	HITS-CLIP	23824327
MIRT631850	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT631849	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT631848	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT1233245	hsa-miR-2278	CLIP-seq
MIRT1233246	hsa-miR-3927	CLIP-seq
MIRT1233247	hsa-miR-4274	CLIP-seq
MIRT1233248	hsa-miR-4451	CLIP-seq
MIRT1233249	hsa-miR-4474-5p	CLIP-seq
MIRT1233250	hsa-miR-4699-3p	CLIP-seq
MIRT1233251	hsa-miR-4732-5p	CLIP-seq
MIRT1233252	hsa-miR-4799-5p	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IDA	15632136
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IDA	15632136
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016740	Function	Transferase activity	IMP	34113002
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	TAS
GO:0051267	Function	CP2 mannose-ethanolamine phosphotransferase activity	IBA
GO:0051267	Function	CP2 mannose-ethanolamine phosphotransferase activity	IDA	15632136
GO:0051377	Function	Mannose-ethanolamine phosphotransferase activity	IEA

MIM	HGNC	e!Ensembl
616918	25985	ENSG00000174227

Protein

UniProt ID

Q5H8A4

Protein name

GPI ethanolamine phosphate transferase 2, catalytic subunit (EC 2.-.-.-) (GPI7 homolog) (hGPI7) (Phosphatidylinositol-glycan biosynthesis class G protein) (PIG-G)

Protein function

Catalytic subunit of the ethanolamine phosphate transferase 2 complex that transfers an ethanolamine phosphate (EtNP) from a phosphatidylethanolamine (PE) to the 6-OH position of the second alpha-1,6-linked mannose of a 6-PEtn-alpha-D-Man-(1->2)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01663	Phosphodiest	168 → 292	Type I phosphodiesterase / nucleotide pyrophosphatase	Family

Sequence

MRLGSGTFATCCVAIEVLGIAVFLRGFFPAPVRSSARAEHGAEPPAPEPSAGASSNWTTL
PPPLFSKVVIVLIDALRDDFVFGSKGVKFMPYTTYLVEKGASHSFVAEAKPPTVTMPRIK
ALMTGSLPGFVDVIRNLNSPALLEDSVIRQAKAAGKRIVFYGDETWVKLFPKHFVEYDGT
TSFFVSDYTEVDNNVTRHLDKVLKRGDWDILILHYLGLDHIGHISGPNSPLIGQKLSEMD
SVLMKIHTSLQSKERETPLPNLLVLCGDHGMSETGSHGASSTEEVNTPLILISSAFERKP
GDIRHPKHVQQTDVAATLAIALGLPIPKDSVGSLLFPVVEGRPMREQLRFLHLNTVQLSK
LLQENVPSYEKDPGFEQFKMSERLHGNWIRLYLEEKHSEVLFNLGSKVLRQYLDALKTLS
LSLSAQVAQYDIYSMMVGTVVVLEVLTLLLLSVPQALRRKAELEVPLSSPGFSLLFYLVI
LVLSAVHVIVCTSAESSCYFCGLSWLAAGGVMVLASALLCVIVSVLTNVLVGGNTPRKNP
MHPSSRWSELDLLILLGTAGHVLSLGASSFVEEEHQTWYFLVNTLCLALSQETYRNYFLG
DDGEPPCGLCVEQGHDGATAAWQDGPGCDVLERDKGHGSPSTSEVLRGREKWMVLASPWL
ILACCRLLRSLNQTGVQWAHRPDLGHWLTSSDHKAELSVLAALSLLVVFVLVQRGCSPVS
KAALALGLLGVYCYRAAIGSVRFPWRPDSKDISKGIIEARFVYVFVLGILFTGTKDLLKS
QVIAADFKLKTVGLWEIYSGLVLLAALLFRPHNLPVLAFSLLIQTLMTKFIWKPLRHDAA
EITVMHYWFGQAFFYFQGNSNNIATVDISAGFVGLDTYVEIPAVLLTAFGTYAGPVLWAS
HLVHFLSSETRSGSALSHACFCYALICSIPVFTYIVLVTSLRYHLFIWSVFSPKLLYEGM
HLLITAAVCVFFTAMDQTRLTQS

Sequence length

983

Interactions

View interactions

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mental retardation	Intellectual disability, autosomal recessive 53	rs1576983339, rs1577094794, rs869320772, rs1294683568, rs869320773, rs771819481, rs886041687, rs752545577, rs150802299, rs1726676630, rs150259543, rs1491240980, rs755634856, rs1560330387	N/A
seizure	Seizure	rs1576983339	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Hyperphosphatasia With Mental Retardation	Hyperphosphatasia with intellectual disability syndrome 1	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Immunologic Deficiency Syndromes	Inhibit	26996948
Immunologic Deficiency Syndromes	Associate	26996948
Intellectual Disability	Associate	26996948, 28581210
Muscle Hypotonia	Associate	26996948
Plaque Atherosclerotic	Associate	39198424
Seizures	Associate	26996948

PIGG (phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group))