Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22874
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology domain containing A6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHA6
Synonyms (NCBI Gene) Gene synonyms aliases
PEPP-3, PEPP3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q32.1
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT504725 hsa-miR-8066 HITS-CLIP 21572407
MIRT504723 hsa-miR-410-3p HITS-CLIP 21572407
MIRT504724 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT504722 hsa-miR-3074-3p HITS-CLIP 21572407
MIRT504718 hsa-miR-190a-3p HITS-CLIP 21572407
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 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607771 17053 ENSG00000143850
Protein
UniProt ID Q9Y2H5
Protein name Pleckstrin homology domain-containing family A member 6 (PH domain-containing family A member 6) (Phosphoinositol 3-phosphate-binding protein 3) (PEPP-3)
PDB 2D9Y , 2YRY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 60 158 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in heart, kidney and throughout the brain.
Sequence
MSNKTGGKRPATTNSDIPNHNMVSEVPPERPSVRATRTARKAVAFGKRSHSMKRNPNAPV
TKAGWLFKQASSGVKQWNKRWFVLVDRCLFYYKDEKEESILGSIPLLSFRVAAVQPSDNI
SRKHTFKAEHAGVRTYFFSAESPEEQEAWIQAMGEAAR
VQIPPAQKSVPQAVRHSHEKPD
SENVPPSKHHQQPPHNSLPKPEPEAKTRGEGDGRGCEKAERRPERPEVKKEPPVKANGLP
AGPEPASEPGSPYPEGPRVPGGGEQPAQPNGWQYHSPSRPGSTAFPSQDGETGGHRRSFP
PRTNPDKIAQRKSSMNQLQQWVNLRRGVPPPEDLRSPSRFYPVSRRVPEYYGPYSSQYPD
DYQYYPPGVRPESICSMPAYDRISPPWALEDKRHAFRNGGGPAYQLREWKEPASYGRQDA
TVWIPSPSRQPVYYDELDAASSSLRRLSLQPRSHSVPRSPSQGSYSRARIYSPVRSPSAR
FERLPPRSEDIYADPAAYVMRRSISSPKVPPYPEVFRDSLHTYKLNEQDTDKLLGKLCEQ
NKVVREQDRLVQQLRAEKESLESALMGTHQELEMFGSQPAYPEKLRHKKDSLQNQLINIR
VELSQATTALTNSTIEYEHLESEVSALHDDLWEQLNLDTQNEVLNRQIQKEIWRIQDVME
GLRKNNPSRGTDTAKHRGGLGPSATYSSNSPASPLSSASLTSPLSPFSLVSGSQGSPTKP
GSNEPKANYEQSKKDPHQTLPLDTPRDISLVPTRQEVEAEKQAALNKVGVVPPRTKSPTD
DEVTPSAVVRRNASGLTNGLSSQERPKSAVFPGEGKVKMSVEEQIDRMRRHQSGSMREKR
RSLQLPASPAPDPSPRPAYKVVRRHRSIHEVDISNLEAALRAEEPGGHAYETPREEIARL
RKMELEPQHYDVDINKELSTPDKVLIPERYIDLEPDTPLSPEELKEKQKKVERIKTLIAK
SSMQNVVPIGEGDSVDVPQDSESQLQEQEKRIEISCALATEASRRGRMLSVQCATPSPPT
SPASPAPPANPLSSESPRGADSSYTMRV
Sequence length 1048
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Synthesis of PIPs at the plasma membrane
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
24576533
Unknown
Disease term Disease name Evidence References Source
Papillary Renal Carcinoma Papillary Renal Carcinoma GWAS
Melanoma Melanoma SMAD3 and SLC9A5 gain?of?function increases invasion capability of melanoma cells. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Colorectal Neoplasms Associate 35237889
Squamous Cell Carcinoma of Head and Neck Associate 22430805