GenTIGS

Inositol polyphosphate-5-phosphatase E (INPP5E) Associated conditions: 1. Joubert syndrome 2. Leber congenital amaurosis

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_001318502.2	NP_001305431.1	NC_000009.12	(136428618..136439844, complement)	Reference GRCh38.p14 Primary Assembly	Q9NRR6
2	REVIEWED	NM_019892.6	NP_063945.2	NC_000009.12	(136428618..136439844, complement)	Reference GRCh38.p14 Primary Assembly	Q9NRR6
3	REVIEWED	XR_929828.3	-	NC_000009.12	(136428618..136439844, complement)	Reference GRCh38.p14 Primary Assembly	Q9NRR6

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 149 reference articles

Variant Information Inositol polyphosphate-5-phosphatase E (INPP5E) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Inositol polyphosphate-5-phosphatase E (INPP5E)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	located_in	Golgi membrane	Component	-
2	Homo sapiens	IEA	located_in	ruffle	Component	-
3	Homo sapiens	IBA	enables	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	Function	-
4	Homo sapiens	IEA	enables	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	Function	-
5	Homo sapiens	TAS	enables	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	Function	-
6	Homo sapiens	IEA	enables	inositol-polyphosphate 5-phosphatase activity	Function	-
7	Homo sapiens	TAS	enables	inositol-polyphosphate 5-phosphatase activity	Function	10764818
8	Homo sapiens	IPI	enables	protein binding	Function	27173435 28514442 30257685 33961781 35271311 36931259
9	Homo sapiens	IBA	is_active_in	nucleus	Component	-
10	Homo sapiens	IEA	located_in	nucleus	Component	-
11	Homo sapiens	ISS	located_in	nucleus	Component	-
12	Homo sapiens	IEA	located_in	cytoplasm	Component	-
13	Homo sapiens	IBA	is_active_in	Golgi apparatus	Component	-
14	Homo sapiens	TAS	located_in	cytosol	Component	-
15	Homo sapiens	IEA	located_in	plasma membrane	Component	-
16	Homo sapiens	IEA	located_in	cilium	Component	-
17	Homo sapiens	TAS	located_in	cilium	Component	-
18	Homo sapiens	IBA	is_active_in	axoneme	Component	-
19	Homo sapiens	IDA	located_in	axoneme	Component	19668215
20	Homo sapiens	IEA	located_in	axoneme	Component	-
21	Homo sapiens	IEA	involved_in	lipid metabolic process	Process	-
22	Homo sapiens	TAS	involved_in	phosphatidylinositol biosynthetic process	Process	-
23	Homo sapiens	IEA	involved_in	phosphate-containing compound metabolic process	Process	-
24	Homo sapiens	IEA	enables	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	Function	-
25	Homo sapiens	IEA	enables	hydrolase activity	Function	-
26	Homo sapiens	IEA	enables	phosphatase activity	Function	-
27	Homo sapiens	IEA	involved_in	negative regulation of translation	Process	-
28	Homo sapiens	IEA	involved_in	organophosphate metabolic process	Process	-
29	Homo sapiens	IEA	located_in	Golgi cisterna membrane	Component	-
30	Homo sapiens	IEA	enables	phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	Function	-
31	Homo sapiens	IEA	involved_in	phosphatidylinositol-3-phosphate biosynthetic process	Process	-
32	Homo sapiens	IEA	enables	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	Function	-
33	Homo sapiens	IBA	involved_in	phosphatidylinositol dephosphorylation	Process	-
34	Homo sapiens	IEA	involved_in	phosphatidylinositol dephosphorylation	Process	-
35	Homo sapiens	IEA	involved_in	negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	Process	-
36	Homo sapiens	IEA	enables	phosphatidylinositol-4,5-bisphosphate phosphatase activity	Function	-
37	Homo sapiens	IEA	located_in	plasma membrane bounded cell projection	Component	-