Gene Gene information from NCBI Gene database.
Entrez ID 144100
Gene name Pleckstrin homology domain containing A7
Gene symbol PLEKHA7
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11p15.2-p15.1
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612686 27049 ENSG00000166689
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
LIYNSSTAGSQAEQSGMRTYYFSADTQEDMNAWVRAMNQAAQ
VLSRSSLKRDMEKVERQA
VPQANHTESCHECGRVGPGHTRDCPHRGHDDIVNFERQEQEGEQYRSQRDPLEGKRDRSK
ARSPYSPAEEDALFMDLPTGPRGQQAQPQRAEKNGMLPASYGPGEQNGTGGYQRAFPPRT
NPEKHSQRKSNLAQVEHWARAQKGDSRSLPLDQTLPRQGPGQSLSFPENYQTLPKSTRHP
SGGSSPPPRNLPSDYKYAQDRASHLKMSSEERRAHRDGTVWQLYEWQQRQQFRHGSPTAP
ICLGSPEFTDQGRSRSMLEVPRSISVPPSPSDIPPPGPPRVFPPRRPHTPAERVTVKPPD
QRRSVDISLGDSPRRARGHAVKNSSHVDRRSMPSMGYMTHTVSAPSLHGKSADDTYLQLK
KDLEYLDLKMTGRDLLKDRSLKPVKIAESDTDVKLSIFCEQDRVLQDLEDKIRALKENKD
QLESVLEVLHRQMEQYRDQPQHLEKIAYQQKLLQEDLVHIRAELSRESTEMENAWNEYLK
LENDVEQLKQTLQEQHRRAFFFQEKSQIQKDLWRIEDVTAGLSANKENFRILVESVKNPE
RKTVPLFPHPPVPSLSTSESKPPPQPSPPTSPVRTPLEVRLFPQLQTYVPYRPHPPQLRK
VTSPLQSPTKAKPKVEDEAPPRPPLPELYSPEDQPPAVPPLPREATIIRHTSVRGLKRQS
DERKRDRELGQCVNGDSRVELRSYVSEPELATLSGDMAQPSLGLVGPESRYQTLPGRGLS
GSTSRLQQSSTIAPYVTLRRGLNAESSKATFPRPKSALERLYSGDHQRGKMSAEEQLERM
KRHQKALVRERKRTLGQGERTGLPSSRYLSRPLPGDLGSVC
Sequence length 1121
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
47
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cleft lip with or without cleft palate Likely pathogenic rs1849496525, rs768861538, rs201543002 RCV001034569
RCV001034567
RCV001034568
PLEKHA7-related disorder Likely pathogenic rs1440223488 RCV003419030
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs952337506 RCV005930063
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Ductal Inhibit 26270346
Carcinoma Ductal Breast Inhibit 26270346
Carcinoma Lobular Inhibit 26270346
Carcinoma Ovarian Epithelial Associate 29996940
Colorectal Neoplasms Associate 34800542
Glaucoma Associate 23847314, 32606567
Glaucoma Angle Closure Associate 23505305, 23847314, 30399154
Hypertension Associate 19430479, 28105631
Lymphatic Metastasis Associate 36823376
Neoplasm Metastasis Inhibit 36823376