Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23362
Gene name Gene Name - the full gene name approved by the HGNC.
Pleckstrin and Sec7 domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSD3
Synonyms (NCBI Gene) Gene synonyms aliases
EFA6D, EFA6R, HCA67
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p22
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT052220 hsa-let-7b-5p CLASH 23622248
MIRT051683 hsa-let-7e-5p CLASH 23622248
MIRT050826 hsa-miR-17-5p CLASH 23622248
MIRT050520 hsa-miR-20a-5p CLASH 23622248
MIRT043647 hsa-miR-326 CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0014069 Component Postsynaptic density IEA
GO:0032012 Process Regulation of ARF protein signal transduction IEA
GO:0032587 Component Ruffle membrane IBA 21873635
GO:0032587 Component Ruffle membrane ISS
GO:0050790 Process Regulation of catalytic activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
614440 19093 ENSG00000156011
Protein
UniProt ID Q9NYI0
Protein name PH and SEC7 domain-containing protein 3 (Epididymis tissue protein Li 20mP) (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 D) (Exchange factor for ARF6 D) (Hepatocellular carcinoma-associated antigen 67) (Pleckstrin homology and
Protein function Guanine nucleotide exchange factor for ARF6.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01369 Sec7 555 736 Sec7 domain Domain
PF15410 PH_9 787 898 Pleckstrin homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 2 is expressed in epididymis (at protein level). {ECO:0000269|PubMed:20736409}.
Sequence
MEGRSAAAETFVWVNNASAHSQSVAKAKYEFLFGRSEGKAPDTSDHGGSTLLPPNVTNEF
PEYGTMEEGGEGLRASLEFDGEALPCHPQEQQGVQPLTGCHSGLDSVTEGPKDVREAPSQ
SHLKEQSLQPIDSLISALKATEARIISGTLQATKVLDQDAVSSFSVQQVEKELDTASRKT
QRVNKTLPAGQKNLPEIPLSAEVTTEESFYLSIQKDLTALLTGDTQAEISQIMNNGRKGA
VCVQEPSCPLASLGSSAVTCHSAGSVGFLKEQRSALGREHPGGCDRSSSMGRPGRVKHVE
FQGVEILWTGGDKRETQHPIDFETSLQRTASPDSKESSKVPRHLISSAGLCNSSSLTENV
WDESWKAPSERPGTSSGTFSPVRLDESGEDEVFLQENKQHLEKTPKPERDRERISEQEEH
VKGEDEDILGPGYTEDSTDVYSSQFETILDNTSLYYSAESLETLYSEPDSYFSFEMPLTP
MIQQRIKEGGQFLERTSGGGHQDILSVSADGGIVMGYSSGVTNGLNDASDSIYTKGTPEI
AFWGSNAGVKTTRLEAHSEMGSTEILEKETPENLSNGTSSNVEAAKRLAKRLYQLDRFKR
SDVAKHLGKNNEFSKLVAEEYLKFFDFTGMTLDQSLRYFFKAFSLVGETQERERVLIHFS
NRYFYCNPDTIASQDGVHCLTCAIMLLNTDLHGHVNIGKKMTCQEFIANLQGVNEGVDFS
KDLLKALYNSIKNEKL
EWAVDDEEKKKSPSESTEEKANGTHPKTISRIGSTTNPFLDIPH
DPNAAVYKSGFLARKIHADMDGKKTPRGKRGWKTFYAVLKGTVLYLQKDEYKPEKALSEE
DLKNAVSVHHALASKATDYEKKPNVFKLKTADWRVLLFQTQSPEEMQGWINKINCVAA
VF
SAPPFPAAIGSQKKFSRPLLPATTTKLSQEEQLKSHESKLKQITTELAEHRSYPPDKKVK
AKDVDEYKLKDHYLEFEKTRYEMYVSILKEGGKELLSNDESEAAGLKKSHSSPSLNPDTS
PITAKVKRNVSERKDHRPETPSIKQKVT
Sequence length 1048
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Endocytosis  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder), AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
27244217
Glioma Glioma, mixed gliomas, Malignant Glioma rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499
View all (13 more)
16865689
Lateral sclerosis AMYOTROPHIC LATERAL SCLEROSIS 1, Amyotrophic Lateral Sclerosis, Sporadic rs386134181, rs386134176, rs386134174, rs386134184, rs386134178, rs1693780539, rs1574698048 27244217
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
22832527, 30285260, 26198764
Unknown
Disease term Disease name Evidence References Source
Pterygium antecubital pterygium syndrome GenCC
Metabolic Syndrome Metabolic Syndrome GWAS
Gout Gout GWAS
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 31989994
Arthrogryposis Associate 26752647
Biliary Atresia Associate 40665272
Carcinoma Renal Cell Associate 34222474
Colorectal Neoplasms Associate 12097419
Endometrial Neoplasms Associate 34337010
Scleroderma Systemic Stimulate 22407130
Tarlov Cysts Associate 38287071