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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	144100
Gene name	Pleckstrin homology domain containing A7
Gene symbol	PLEKHA7
Synonyms (NCBI Gene)	-
Chromosome	11
Chromosome location	11p15.2-p15.1

161

Show/Hide all (161)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018803	hsa-miR-335-5p	Microarray	18185580
MIRT023108	hsa-miR-124-3p	Microarray	18668037
MIRT1241197	hsa-miR-1	CLIP-seq
MIRT1241198	hsa-miR-1264	CLIP-seq
MIRT1241199	hsa-miR-1275	CLIP-seq
MIRT1241200	hsa-miR-1972	CLIP-seq
MIRT1241201	hsa-miR-206	CLIP-seq
MIRT1241202	hsa-miR-218	CLIP-seq
MIRT1241203	hsa-miR-2278	CLIP-seq
MIRT1241204	hsa-miR-30a	CLIP-seq
MIRT1241205	hsa-miR-30b	CLIP-seq
MIRT1241206	hsa-miR-30c	CLIP-seq
MIRT1241207	hsa-miR-30d	CLIP-seq
MIRT1241208	hsa-miR-30e	CLIP-seq
MIRT1241209	hsa-miR-3167	CLIP-seq
MIRT1241210	hsa-miR-3182	CLIP-seq
MIRT1241211	hsa-miR-3192	CLIP-seq
MIRT1241212	hsa-miR-3607-3p	CLIP-seq
MIRT1241213	hsa-miR-3616-3p	CLIP-seq
MIRT1241214	hsa-miR-3649	CLIP-seq
MIRT1241215	hsa-miR-3658	CLIP-seq
MIRT1241216	hsa-miR-3673	CLIP-seq
MIRT1241217	hsa-miR-3686	CLIP-seq
MIRT1241218	hsa-miR-3689a-3p	CLIP-seq
MIRT1241219	hsa-miR-3689c	CLIP-seq
MIRT1241220	hsa-miR-3689d	CLIP-seq
MIRT1241221	hsa-miR-383	CLIP-seq
MIRT1241222	hsa-miR-3929	CLIP-seq
MIRT1241223	hsa-miR-3941	CLIP-seq
MIRT1241224	hsa-miR-3974	CLIP-seq
MIRT1241225	hsa-miR-425	CLIP-seq
MIRT1241226	hsa-miR-4260	CLIP-seq
MIRT1241227	hsa-miR-4269	CLIP-seq
MIRT1241228	hsa-miR-4302	CLIP-seq
MIRT1241229	hsa-miR-4314	CLIP-seq
MIRT1241230	hsa-miR-4328	CLIP-seq
MIRT1241231	hsa-miR-4419b	CLIP-seq
MIRT1241232	hsa-miR-4436b-3p	CLIP-seq
MIRT1241233	hsa-miR-4475	CLIP-seq
MIRT1241234	hsa-miR-4478	CLIP-seq
MIRT1241235	hsa-miR-4514	CLIP-seq
MIRT1241236	hsa-miR-4525	CLIP-seq
MIRT1241237	hsa-miR-4646-5p	CLIP-seq
MIRT1241238	hsa-miR-466	CLIP-seq
MIRT1241239	hsa-miR-4665-5p	CLIP-seq
MIRT1241240	hsa-miR-4668-5p	CLIP-seq
MIRT1241241	hsa-miR-4672	CLIP-seq
MIRT1241242	hsa-miR-4692	CLIP-seq
MIRT1241243	hsa-miR-4694-3p	CLIP-seq
MIRT1241244	hsa-miR-4697-3p	CLIP-seq
MIRT1241245	hsa-miR-4709-3p	CLIP-seq
MIRT1241246	hsa-miR-4723-5p	CLIP-seq
MIRT1241247	hsa-miR-4728-5p	CLIP-seq
MIRT1241248	hsa-miR-4731-3p	CLIP-seq
MIRT1241249	hsa-miR-4742-5p	CLIP-seq
MIRT1241250	hsa-miR-4772-5p	CLIP-seq
MIRT1241251	hsa-miR-4778-3p	CLIP-seq
MIRT1241252	hsa-miR-4801	CLIP-seq
MIRT1241253	hsa-miR-485-5p	CLIP-seq
MIRT1241254	hsa-miR-581	CLIP-seq
MIRT1241255	hsa-miR-607	CLIP-seq
MIRT1241256	hsa-miR-613	CLIP-seq
MIRT1241257	hsa-miR-625	CLIP-seq
MIRT1241258	hsa-miR-636	CLIP-seq
MIRT1241259	hsa-miR-876-5p	CLIP-seq
MIRT1241260	hsa-miR-922	CLIP-seq
MIRT1241261	hsa-miR-940	CLIP-seq
MIRT2070947	hsa-miR-1238	CLIP-seq
MIRT2070948	hsa-miR-1245b-5p	CLIP-seq
MIRT2070949	hsa-miR-1269	CLIP-seq
MIRT2070950	hsa-miR-1269b	CLIP-seq
MIRT2070951	hsa-miR-1297	CLIP-seq
MIRT2070952	hsa-miR-1343	CLIP-seq
MIRT2070953	hsa-miR-147	CLIP-seq
MIRT2070954	hsa-miR-199a-3p	CLIP-seq
MIRT2070955	hsa-miR-199b-3p	CLIP-seq
MIRT1241202	hsa-miR-218	CLIP-seq
MIRT2070956	hsa-miR-26a	CLIP-seq
MIRT2070957	hsa-miR-26b	CLIP-seq
MIRT2070958	hsa-miR-2861	CLIP-seq
MIRT2070959	hsa-miR-3129-5p	CLIP-seq
MIRT2070960	hsa-miR-3142	CLIP-seq
MIRT2070961	hsa-miR-3155	CLIP-seq
MIRT2070962	hsa-miR-3155b	CLIP-seq
MIRT1241211	hsa-miR-3192	CLIP-seq
MIRT1241218	hsa-miR-3689a-3p	CLIP-seq
MIRT1241219	hsa-miR-3689c	CLIP-seq
MIRT2070963	hsa-miR-4272	CLIP-seq
MIRT2070964	hsa-miR-4465	CLIP-seq
MIRT2070965	hsa-miR-4529-3p	CLIP-seq
MIRT2070966	hsa-miR-4649-3p	CLIP-seq
MIRT2070967	hsa-miR-4678	CLIP-seq
MIRT2070968	hsa-miR-4691-5p	CLIP-seq
MIRT2070969	hsa-miR-4700-3p	CLIP-seq
MIRT2070970	hsa-miR-484	CLIP-seq
MIRT2070971	hsa-miR-509-3p	CLIP-seq
MIRT2070972	hsa-miR-587	CLIP-seq
MIRT2070973	hsa-miR-624	CLIP-seq
MIRT1241258	hsa-miR-636	CLIP-seq
MIRT2070974	hsa-miR-936	CLIP-seq
MIRT1241197	hsa-miR-1	CLIP-seq
MIRT2298053	hsa-miR-105	CLIP-seq
MIRT2070948	hsa-miR-1245b-5p	CLIP-seq
MIRT2298054	hsa-miR-1292	CLIP-seq
MIRT2298055	hsa-miR-1301	CLIP-seq
MIRT2298056	hsa-miR-1303	CLIP-seq
MIRT2070954	hsa-miR-199a-3p	CLIP-seq
MIRT2070955	hsa-miR-199b-3p	CLIP-seq
MIRT1241201	hsa-miR-206	CLIP-seq
MIRT2298057	hsa-miR-2117	CLIP-seq
MIRT1241204	hsa-miR-30a	CLIP-seq
MIRT1241205	hsa-miR-30b	CLIP-seq
MIRT1241206	hsa-miR-30c	CLIP-seq
MIRT1241207	hsa-miR-30d	CLIP-seq
MIRT1241208	hsa-miR-30e	CLIP-seq
MIRT2070959	hsa-miR-3129-5p	CLIP-seq
MIRT2070960	hsa-miR-3142	CLIP-seq
MIRT2070961	hsa-miR-3155	CLIP-seq
MIRT2070962	hsa-miR-3155b	CLIP-seq
MIRT2298058	hsa-miR-3159	CLIP-seq
MIRT1241210	hsa-miR-3182	CLIP-seq
MIRT1241211	hsa-miR-3192	CLIP-seq
MIRT2298059	hsa-miR-342-5p	CLIP-seq
MIRT1241212	hsa-miR-3607-3p	CLIP-seq
MIRT1241213	hsa-miR-3616-3p	CLIP-seq
MIRT1241216	hsa-miR-3673	CLIP-seq
MIRT1241217	hsa-miR-3686	CLIP-seq
MIRT2298060	hsa-miR-3921	CLIP-seq
MIRT2298061	hsa-miR-409-5p	CLIP-seq
MIRT2298062	hsa-miR-421	CLIP-seq
MIRT1241227	hsa-miR-4269	CLIP-seq
MIRT2298063	hsa-miR-4273	CLIP-seq
MIRT1241229	hsa-miR-4314	CLIP-seq
MIRT1241232	hsa-miR-4436b-3p	CLIP-seq
MIRT2298064	hsa-miR-4438	CLIP-seq
MIRT2298065	hsa-miR-4464	CLIP-seq
MIRT2298066	hsa-miR-4471	CLIP-seq
MIRT1241235	hsa-miR-4514	CLIP-seq
MIRT2298067	hsa-miR-4520a-3p	CLIP-seq
MIRT2298068	hsa-miR-4539	CLIP-seq
MIRT1241237	hsa-miR-4646-5p	CLIP-seq
MIRT2298069	hsa-miR-4651	CLIP-seq
MIRT2298070	hsa-miR-4653-5p	CLIP-seq
MIRT2298071	hsa-miR-4660	CLIP-seq
MIRT2298072	hsa-miR-4664-5p	CLIP-seq
MIRT2298073	hsa-miR-4680-3p	CLIP-seq
MIRT1241242	hsa-miR-4692	CLIP-seq
MIRT1241243	hsa-miR-4694-3p	CLIP-seq
MIRT1241245	hsa-miR-4709-3p	CLIP-seq
MIRT2298074	hsa-miR-4709-5p	CLIP-seq
MIRT1241249	hsa-miR-4742-5p	CLIP-seq
MIRT2298075	hsa-miR-4748	CLIP-seq
MIRT2298076	hsa-miR-4802-5p	CLIP-seq
MIRT2070970	hsa-miR-484	CLIP-seq
MIRT2298077	hsa-miR-5047	CLIP-seq
MIRT2298078	hsa-miR-608	CLIP-seq
MIRT2298079	hsa-miR-609	CLIP-seq
MIRT1241256	hsa-miR-613	CLIP-seq
MIRT1241260	hsa-miR-922	CLIP-seq
MIRT2070974	hsa-miR-936	CLIP-seq
MIRT1241261	hsa-miR-940	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	28877994, 30463011, 32296183, 35271311, 36931259
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	19041755
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005915	Component	Zonula adherens	IBA
GO:0005915	Component	Zonula adherens	IDA	19041755
GO:0030054	Component	Cell junction	IDA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	ISS	23990464
GO:0045218	Process	Zonula adherens maintenance	IBA
GO:0045218	Process	Zonula adherens maintenance	IMP	19041755
GO:0046930	Component	Pore complex	IBA
GO:0046930	Component	Pore complex	IEA
GO:0046930	Component	Pore complex	IMP	30463011
GO:0046931	Process	Pore complex assembly	IBA
GO:0046931	Process	Pore complex assembly	IEA
GO:0046931	Process	Pore complex assembly	IMP	30463011
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070097	Function	Delta-catenin binding	IDA	19041755
GO:0070161	Component	Anchoring junction	IEA
GO:0090136	Process	Epithelial cell-cell adhesion	IBA
GO:0090136	Process	Epithelial cell-cell adhesion	IMP	19041755
GO:0098609	Process	Cell-cell adhesion	IEA

MIM	HGNC	e!Ensembl
612686	27049	ENSG00000166689

Q6IQ23

Protein name

Pleckstrin homology domain-containing family A member 7 (PH domain-containing family A member 7)

Protein function

Required for zonula adherens biogenesis and maintenance (PubMed:19041755). Acts via its interaction with CAMSAP3, which anchors microtubules at their minus-ends to zonula adherens, leading to the recruitment of KIFC3 kinesin to the junctional si

PDB

7KJO , 7KJZ , 7KK7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00169	PH	165 → 282	PH domain	Domain

Sequence

MAAATVGRDTLPEHWSYGVCRDGRVFFINDQLRCTTWLHPRTGEPVNSGHMIRSDLPRGW
EEGFTEEGASYFIDHNQQTTAFRHPVTGQFSPENSEFILQEEPNPHMSKQDRNQRPSSMV
SETSTAGTASTLEAKPGPKIIKSSSKVHSFGKRDQAIRRNPNVPVVVRGWLHKQDSSGMR
LWKRRWFVLADYCLFYYKDSREEAVLGSIPLPSYVISPVAPEDRISRKYSFKAVHTGMRA
LIYNSSTAGSQAEQSGMRTYYFSADTQEDMNAWVRAMNQAAQVLSRSSLKRDMEKVERQA
VPQANHTESCHECGRVGPGHTRDCPHRGHDDIVNFERQEQEGEQYRSQRDPLEGKRDRSK
ARSPYSPAEEDALFMDLPTGPRGQQAQPQRAEKNGMLPASYGPGEQNGTGGYQRAFPPRT
NPEKHSQRKSNLAQVEHWARAQKGDSRSLPLDQTLPRQGPGQSLSFPENYQTLPKSTRHP
SGGSSPPPRNLPSDYKYAQDRASHLKMSSEERRAHRDGTVWQLYEWQQRQQFRHGSPTAP
ICLGSPEFTDQGRSRSMLEVPRSISVPPSPSDIPPPGPPRVFPPRRPHTPAERVTVKPPD
QRRSVDISLGDSPRRARGHAVKNSSHVDRRSMPSMGYMTHTVSAPSLHGKSADDTYLQLK
KDLEYLDLKMTGRDLLKDRSLKPVKIAESDTDVKLSIFCEQDRVLQDLEDKIRALKENKD
QLESVLEVLHRQMEQYRDQPQHLEKIAYQQKLLQEDLVHIRAELSRESTEMENAWNEYLK
LENDVEQLKQTLQEQHRRAFFFQEKSQIQKDLWRIEDVTAGLSANKENFRILVESVKNPE
RKTVPLFPHPPVPSLSTSESKPPPQPSPPTSPVRTPLEVRLFPQLQTYVPYRPHPPQLRK
VTSPLQSPTKAKPKVEDEAPPRPPLPELYSPEDQPPAVPPLPREATIIRHTSVRGLKRQS
DERKRDRELGQCVNGDSRVELRSYVSEPELATLSGDMAQPSLGLVGPESRYQTLPGRGLS
GSTSRLQQSSTIAPYVTLRRGLNAESSKATFPRPKSALERLYSGDHQRGKMSAEEQLERM
KRHQKALVRERKRTLGQGERTGLPSSRYLSRPLPGDLGSVC

Sequence length

1121

Interactions

View interactions

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 (2)

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	rs1849496525, rs768861538, rs201543002	RCV001034569 RCV001034567 RCV001034568	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PLEKHA7-related disorder	Likely pathogenic	rs1440223488	RCV003419030	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, ANGLE-CLOSURE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY ANGLE CLOSURE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (26)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Angle Closure Glaucoma	Angle Closure Glaucoma	CTD_human_DG	22922875, 27064256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	23847314, 23920366, 24474268, 24801512, 24854855, 25732101, 26497787, 26854036, 29016860, 29310965, 30809385, 31377279		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Ductal	Ductal carcinoma	Pubtator	26270346	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	26270346	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	26270346	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	29996940	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29996940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34800542	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	22542108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29996940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	GWASCAT_DG	22922875		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	BEFREE	23847314, 24854855		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma	Glaucoma	Pubtator	23847314, 32606567	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glaucoma Angle Closure	Angle closure glaucoma	Pubtator	23505305, 23847314, 30399154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma, Open-Angle	Glaucoma	GWASDB_DG	22922875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	19430479, 28105631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20414254, 21963141		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36823376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29996940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	29996940	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	23847314, 23920366, 24474268, 24801512, 24854855, 25732101, 26497787, 26854036, 29016860, 29310965, 30809385, 31377279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	GWASCAT_DG	27064256		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36823376	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	23940718	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PLEKHA7 (pleckstrin homology domain containing A7)