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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	54477
Gene name	Pleckstrin homology domain containing A5
Gene symbol	PLEKHA5
Synonyms (NCBI Gene)	PEPP-2PEPP2
Chromosome	12
Chromosome location	12p12.3

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020804	hsa-miR-155-5p	Proteomics	18668040
MIRT050272	hsa-miR-25-3p	CLASH	23622248
MIRT439951	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439951	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1241001	hsa-miR-1225-3p	CLIP-seq
MIRT1241002	hsa-miR-1233	CLIP-seq
MIRT1241003	hsa-miR-1266	CLIP-seq
MIRT1241004	hsa-miR-1273d	CLIP-seq
MIRT1241005	hsa-miR-150	CLIP-seq
MIRT1241006	hsa-miR-1976	CLIP-seq
MIRT1241007	hsa-miR-2114	CLIP-seq
MIRT1241008	hsa-miR-2392	CLIP-seq
MIRT1241009	hsa-miR-3156-3p	CLIP-seq
MIRT1241010	hsa-miR-3160-3p	CLIP-seq
MIRT1241011	hsa-miR-326	CLIP-seq
MIRT1241012	hsa-miR-330-5p	CLIP-seq
MIRT1241013	hsa-miR-335	CLIP-seq
MIRT1241014	hsa-miR-338-3p	CLIP-seq
MIRT1241015	hsa-miR-34b	CLIP-seq
MIRT1241016	hsa-miR-3614-5p	CLIP-seq
MIRT1241017	hsa-miR-3677-3p	CLIP-seq
MIRT1241018	hsa-miR-3689a-3p	CLIP-seq
MIRT1241019	hsa-miR-3689c	CLIP-seq
MIRT1241020	hsa-miR-3922-5p	CLIP-seq
MIRT1241021	hsa-miR-4254	CLIP-seq
MIRT1241022	hsa-miR-4279	CLIP-seq
MIRT1241023	hsa-miR-4301	CLIP-seq
MIRT1241024	hsa-miR-4308	CLIP-seq
MIRT1241025	hsa-miR-4438	CLIP-seq
MIRT1241026	hsa-miR-4440	CLIP-seq
MIRT1241027	hsa-miR-4459	CLIP-seq
MIRT1241028	hsa-miR-4487	CLIP-seq
MIRT1241029	hsa-miR-4518	CLIP-seq
MIRT1241030	hsa-miR-4530	CLIP-seq
MIRT1241031	hsa-miR-4656	CLIP-seq
MIRT1241032	hsa-miR-4679	CLIP-seq
MIRT1241033	hsa-miR-4722-3p	CLIP-seq
MIRT1241034	hsa-miR-4722-5p	CLIP-seq
MIRT1241035	hsa-miR-4728-5p	CLIP-seq
MIRT1241036	hsa-miR-4768-3p	CLIP-seq
MIRT1241037	hsa-miR-498	CLIP-seq
MIRT1241038	hsa-miR-5095	CLIP-seq
MIRT1241039	hsa-miR-510	CLIP-seq
MIRT1241040	hsa-miR-512-5p	CLIP-seq
MIRT1241041	hsa-miR-541	CLIP-seq
MIRT1241042	hsa-miR-548aa	CLIP-seq
MIRT1241043	hsa-miR-558	CLIP-seq
MIRT1241044	hsa-miR-562	CLIP-seq
MIRT1241045	hsa-miR-570	CLIP-seq
MIRT1241046	hsa-miR-640	CLIP-seq
MIRT1241047	hsa-miR-654-5p	CLIP-seq
MIRT1241048	hsa-miR-665	CLIP-seq
MIRT1241049	hsa-miR-765	CLIP-seq
MIRT1241050	hsa-miR-103b	CLIP-seq
MIRT1241051	hsa-miR-137	CLIP-seq
MIRT1241052	hsa-miR-138	CLIP-seq
MIRT1241053	hsa-miR-15a	CLIP-seq
MIRT1241054	hsa-miR-15b	CLIP-seq
MIRT1241055	hsa-miR-16	CLIP-seq
MIRT1241056	hsa-miR-195	CLIP-seq
MIRT1241057	hsa-miR-2052	CLIP-seq
MIRT1241058	hsa-miR-3180-5p	CLIP-seq
MIRT1241059	hsa-miR-3194-3p	CLIP-seq
MIRT1241060	hsa-miR-320a	CLIP-seq
MIRT1241061	hsa-miR-320b	CLIP-seq
MIRT1241062	hsa-miR-320c	CLIP-seq
MIRT1241063	hsa-miR-320d	CLIP-seq
MIRT1241064	hsa-miR-320e	CLIP-seq
MIRT1241065	hsa-miR-3673	CLIP-seq
MIRT1241066	hsa-miR-3978	CLIP-seq
MIRT1241067	hsa-miR-424	CLIP-seq
MIRT1241068	hsa-miR-4261	CLIP-seq
MIRT1241069	hsa-miR-4429	CLIP-seq
MIRT1241070	hsa-miR-4524	CLIP-seq
MIRT1241071	hsa-miR-455-5p	CLIP-seq
MIRT1241072	hsa-miR-4640-5p	CLIP-seq
MIRT1241073	hsa-miR-4698	CLIP-seq
MIRT1241074	hsa-miR-4726-5p	CLIP-seq
MIRT1241075	hsa-miR-4731-3p	CLIP-seq
MIRT1241076	hsa-miR-4766-5p	CLIP-seq
MIRT1241077	hsa-miR-4801	CLIP-seq
MIRT1241078	hsa-miR-4803	CLIP-seq
MIRT1241079	hsa-miR-494	CLIP-seq
MIRT1241080	hsa-miR-497	CLIP-seq
MIRT1241081	hsa-miR-503	CLIP-seq
MIRT1241082	hsa-miR-520a-5p	CLIP-seq
MIRT1241083	hsa-miR-520d-5p	CLIP-seq
MIRT1241084	hsa-miR-524-5p	CLIP-seq
MIRT1241085	hsa-miR-525-5p	CLIP-seq
MIRT1241086	hsa-miR-595	CLIP-seq
MIRT1241087	hsa-miR-646	CLIP-seq
MIRT1556809	hsa-miR-4284	CLIP-seq
MIRT1241050	hsa-miR-103b	CLIP-seq
MIRT2070843	hsa-miR-1305	CLIP-seq
MIRT1241051	hsa-miR-137	CLIP-seq
MIRT1241059	hsa-miR-3194-3p	CLIP-seq
MIRT2070844	hsa-miR-3662	CLIP-seq
MIRT2070845	hsa-miR-421	CLIP-seq
MIRT1241071	hsa-miR-455-5p	CLIP-seq
MIRT2070846	hsa-miR-4643	CLIP-seq
MIRT2070847	hsa-miR-466	CLIP-seq
MIRT2070848	hsa-miR-4709-5p	CLIP-seq
MIRT2070849	hsa-miR-4718	CLIP-seq
MIRT1241076	hsa-miR-4766-5p	CLIP-seq
MIRT2070850	hsa-miR-4789-3p	CLIP-seq
MIRT2070851	hsa-miR-4790-3p	CLIP-seq
MIRT2070852	hsa-miR-511	CLIP-seq
MIRT2070853	hsa-miR-630	CLIP-seq
MIRT2070843	hsa-miR-1305	CLIP-seq
MIRT1241051	hsa-miR-137	CLIP-seq
MIRT2298024	hsa-miR-3143	CLIP-seq
MIRT2298025	hsa-miR-3163	CLIP-seq
MIRT1241064	hsa-miR-320e	CLIP-seq
MIRT2298026	hsa-miR-3660	CLIP-seq
MIRT2070844	hsa-miR-3662	CLIP-seq
MIRT2298027	hsa-miR-3908	CLIP-seq
MIRT2298028	hsa-miR-3942-5p	CLIP-seq
MIRT1241066	hsa-miR-3978	CLIP-seq
MIRT2070845	hsa-miR-421	CLIP-seq
MIRT1241068	hsa-miR-4261	CLIP-seq
MIRT2298029	hsa-miR-4503	CLIP-seq
MIRT2298030	hsa-miR-4526	CLIP-seq
MIRT2070846	hsa-miR-4643	CLIP-seq
MIRT2070847	hsa-miR-466	CLIP-seq
MIRT2298031	hsa-miR-4703-5p	CLIP-seq
MIRT2070848	hsa-miR-4709-5p	CLIP-seq
MIRT2070849	hsa-miR-4718	CLIP-seq
MIRT1241075	hsa-miR-4731-3p	CLIP-seq
MIRT2298032	hsa-miR-4766-3p	CLIP-seq
MIRT2070850	hsa-miR-4789-3p	CLIP-seq
MIRT2070851	hsa-miR-4790-3p	CLIP-seq
MIRT1241077	hsa-miR-4801	CLIP-seq
MIRT2070852	hsa-miR-511	CLIP-seq
MIRT2298033	hsa-miR-543	CLIP-seq
MIRT2298034	hsa-miR-599	CLIP-seq
MIRT2070843	hsa-miR-1305	CLIP-seq
MIRT2070845	hsa-miR-421	CLIP-seq
MIRT2070848	hsa-miR-4709-5p	CLIP-seq
MIRT2070851	hsa-miR-4790-3p	CLIP-seq
MIRT2070852	hsa-miR-511	CLIP-seq
MIRT1241003	hsa-miR-1266	CLIP-seq
MIRT1241007	hsa-miR-2114	CLIP-seq
MIRT2456638	hsa-miR-3065-5p	CLIP-seq
MIRT2456639	hsa-miR-3652	CLIP-seq
MIRT2456640	hsa-miR-4423-5p	CLIP-seq
MIRT2456641	hsa-miR-4430	CLIP-seq
MIRT1241029	hsa-miR-4518	CLIP-seq
MIRT1241031	hsa-miR-4656	CLIP-seq
MIRT2456642	hsa-miR-4759	CLIP-seq
MIRT2456643	hsa-miR-4797-5p	CLIP-seq
MIRT1241039	hsa-miR-510	CLIP-seq
MIRT1241040	hsa-miR-512-5p	CLIP-seq
MIRT2456644	hsa-miR-578	CLIP-seq
MIRT2456645	hsa-miR-889	CLIP-seq
MIRT2456638	hsa-miR-3065-5p	CLIP-seq
MIRT2456642	hsa-miR-4759	CLIP-seq
MIRT2456645	hsa-miR-889	CLIP-seq
MIRT2595475	hsa-miR-4716-5p	CLIP-seq
MIRT2070851	hsa-miR-4790-3p	CLIP-seq
MIRT2595476	hsa-miR-493	CLIP-seq
MIRT2070852	hsa-miR-511	CLIP-seq
MIRT2688084	hsa-miR-186	CLIP-seq
MIRT2688085	hsa-miR-4256	CLIP-seq
MIRT2688086	hsa-miR-4523	CLIP-seq
MIRT2595475	hsa-miR-4716-5p	CLIP-seq
MIRT2595476	hsa-miR-493	CLIP-seq
MIRT2070852	hsa-miR-511	CLIP-seq
MIRT1241045	hsa-miR-570	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16713569, 25416956, 32296183, 32353859, 33060197, 36217030
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IBA
GO:0010314	Function	Phosphatidylinositol-5-phosphate binding	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IBA
GO:0032266	Function	Phosphatidylinositol-3-phosphate binding	IEA
GO:0061458	Process	Reproductive system development	IEA
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IBA
GO:0070273	Function	Phosphatidylinositol-4-phosphate binding	IEA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IBA
GO:0080025	Function	Phosphatidylinositol-3,5-bisphosphate binding	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

MIM	HGNC	e!Ensembl
607770	30036	ENSG00000052126

Q9HAU0

Protein name

Pleckstrin homology domain-containing family A member 5 (PH domain-containing family A member 5) (Phosphoinositol 3-phosphate-binding protein 2) (PEPP-2)

PDB

2DKP

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00397	WW	58 → 87	WW domain	Domain
PF00169	PH	170 → 267	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart and kidney. {ECO:0000269|PubMed:11001876}.

Sequence

MAADLNLEWISLPRSWTYGITRGGRVFFINEEAKSTTWLHPVTGEAVVTGHRRQSTDLPT
GWEEAYTFEGARYYINHNERKVTCKHPVTGQPSQDNCIFVVNEQTVATMTSEEKKERPIS
MINEASNYNVTSDYAVHPMSPVGRTSRASKKVHNFGKRSNSIKRNPNAPVVRRGWLYKQD
STGMKLWKKRWFVLSDLCLFYYRDEKEEGILGSILLPSFQIALLTSEDHINRKYAFKAAH
PNMRTYYFCTDTGKEMELWMKAMLDAALVQTEPVKRVDKITSENAPTKETNNIPNHRVLI
KPEIQNNQKNKEMSKIEEKKALEAEKYGFQKDGQDRPLTKINSVKLNSLPSEYESGSACP
AQTVHYRPINLSSSENKIVNVSLADLRGGNRPNTGPLYTEADRVIQRTNSMQQLEQWIKI
QKGRGHEEETRGVISYQTLPRNMPSHRAQIMARYPEGYRTLPRNSKTRPESICSVTPSTH
DKTLGPGAEEKRRSMRDDTMWQLYEWQQRQFYNKQSTLPRHSTLSSPKTMVNISDQTMHS
IPTSPSHGSIAAYQGYSPQRTYRSEVSSPIQRGDVTIDRRHRAHHPKHVYVPDRRSVPAG
LTLQSVSPQSLQGKTLSQDEGRGTLYKYRPEEVDIDAKLSRLCEQDKVVHALEEKLQQLH
KEKYTLEQALLSASQEIEMHADNPAAIQTVVLQRDDLQNGLLSTCRELSRATAELERAWR
EYDKLEYDVTVTRNQMQEQLDHLGEVQTESAGIQRAQIQKELWRIQDVMEGLSKHKQQRG
TTEIGMIGSKPFSTVKYKNEGPDYRLYKSEPELTTVAEVDESNGEEKSEPVSEIETSVVK
GSHFPVGVVPPRAKSPTPESSTIASYVTLRKTKKMMDLRTERPRSAVEQLCLAESTRPRM
TVEEQMERIRRHQQACLREKKKGLNVIGASDQSPLQSPSNLRDNPFRTTQTRRRDDKELD
TAIRENDVKPDHETPATEIVQLKETEPQNVDFSKELKKTENISYEMLFEPEPNGVNSVEM
MDKERNKDKMPEDVTFSPQDETQTANHKPEEHPEENTKNSVDEQEETVISYESTPEVSRG
NQTMAVKSLSPSPESSASPVPSTQPQLTEGSHFMCV

Sequence length

1116

Interactions

View interactions

	Reactome
			Synthesis of PIPs at the plasma membrane

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cleft lip with or without cleft palate	Likely pathogenic	rs779785581	RCV001034573	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bilateral cleft lip	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PLEKHA5-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (6)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Brain Diseases	Associate	25316811	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Associate	25316811	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	29515040	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma T Cell	Associate	36417130	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	25316811	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	25316811	★★★★★ ★☆☆☆☆ Found in Text Mining only

PLEKHA5 (pleckstrin homology domain containing A5)