Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
144100
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology domain containing A7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHA7
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.2-p15.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612686 27049 ENSG00000166689
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cleft Lip With Or Without Cleft Palate cleft lip with or without cleft palate rs1849496525, rs768861538, rs201543002 N/A
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.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Glaucoma Glaucoma N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease 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