Gene Gene information from NCBI Gene database.
Entrez ID 23362
Gene name Pleckstrin and Sec7 domain containing 3
Gene symbol PSD3
Synonyms (NCBI Gene)
EFA6DEFA6RHCA67
Chromosome 8
Chromosome location 8p22
miRNA miRNA information provided by mirtarbase database.
1173
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005085 Function Guanyl-nucleotide exchange factor activity IBA
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005886 Component Plasma membrane IEA
GO:0014069 Component Postsynaptic density IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614440 19093 ENSG00000156011
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
37
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTECUBITAL PTERYGIUM SYNDROME ClinGen, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 31989994
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Arthrogryposis Associate 26752647
★☆☆☆☆
Found in Text Mining only
Biliary Atresia Associate 40665272
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 34222474
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 12097419
★☆☆☆☆
Found in Text Mining only
Endometrial Neoplasms Associate 34337010
★☆☆☆☆
Found in Text Mining only
Scleroderma Systemic Stimulate 22407130
★☆☆☆☆
Found in Text Mining only
Tarlov Cysts Associate 38287071
★☆☆☆☆
Found in Text Mining only