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: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 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  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Breast Cancer Breast cancer N/A N/A GWAS
Congenital finger flexion contractures Flexion contracture N/A N/A ClinVar
Coronary artery disease Coronary artery disease N/A N/A GWAS
Coronary Heart Disease Coronary heart disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
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