Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84725
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin homology domain containing A8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLEKHA8
Synonyms (NCBI Gene) Gene synonyms aliases
FAPP2
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p14.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004995 hsa-miR-125b-5p Microarray 17891175
MIRT700742 hsa-miR-495-5p HITS-CLIP 23313552
MIRT700741 hsa-miR-382-5p HITS-CLIP 23313552
MIRT700740 hsa-miR-646 HITS-CLIP 23313552
MIRT700739 hsa-miR-21-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005654 Component Nucleoplasm IDA
GO:0005794 Component Golgi apparatus IDA
GO:0005802 Component Trans-Golgi network IDA 15107860
GO:0005829 Component Cytosol IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608639 30037 ENSG00000106086
Protein
UniProt ID Q96JA3
Protein name Pleckstrin homology domain-containing family A member 8 (PH domain-containing family A member 8) (Phosphatidylinositol-four-phosphate adapter protein 2) (FAPP-2) (Phosphoinositol 4-phosphate adapter protein 2) (hFAPP2) (Serologically defined breast cancer
Protein function Cargo transport protein that is required for apical transport from the Golgi complex. Transports AQP2 from the trans-Golgi network (TGN) to sites of AQP2 phosphorylation. Mediates the non-vesicular transport of glucosylceramide (GlcCer) from the
PDB 5KDI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 1 93 PH domain Domain
PF08718 GLTP 330 472 Glycolipid transfer protein (GLTP) Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney cell lines. {ECO:0000269|PubMed:15107860}.
Sequence
MEGVLYKWTNYLSGWQPRWFLLCGGILSYYDSPEDAWKGCKGSIQMAVCEIQVHSVDNTR
MDLIIPGEQYFYLKARSVAERQRWLVALGSAKA
CLTDSRTQKEKEFAENTENLKTKMSEL
RLYCDLLVQQVDKTKEVTTTGVSNSEEGIDVGTLLKSTCNTFLKTLEECMQIANAAFTSE
LLYRTPPGSPQLAMLKSSKMKHPIIPIHNSLERQMELSTCENGSLNMEINGEEEILMKNK
NSLYLKSAEIDCSISSEENTDDNITVQGEIRKEDGMENLKNHDNNLTQSGSDSSCSPECL
WEEGKEVIPTFFSTMNTSFSDIELLEDSGIPTEAFLASCYAVVPVLDKLGPTVFAPVKMD
LVGNIKKVNQKYITNKEEFTTLQKIVLHEVEADVAQVRNSATEALLWLKRGLKFLKGFLT
EVKNGEKDIQTALNNAYGKTLRQHHGWVVRGVFALALRAAPSYEDFVAALTV
KEGDHQKE
AFSIGMQRDLSLYLPAMEKQLAILDTLYEVHGLESDEVV
Sequence length 519
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
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 19341712
Colonic Neoplasms Associate 19341712
Colorectal Neoplasms Associate 24204606, 34299245
Neoplasms Associate 19341712, 34299245