Gene Gene information from NCBI Gene database.
Entrez ID 23550
Gene name Pleckstrin and Sec7 domain containing 4
Gene symbol PSD4
Synonyms (NCBI Gene)
EFA6BTIC
Chromosome 2
Chromosome location 2q14.1
miRNA miRNA information provided by mirtarbase database.
457
miRTarBase ID miRNA Experiments Reference
MIRT023161 hsa-miR-124-3p Microarray 18668037
MIRT452902 hsa-miR-302f HITS-CLIP 23313552
MIRT452901 hsa-miR-1910-3p HITS-CLIP 23313552
MIRT452900 hsa-miR-6511a-5p HITS-CLIP 23313552
MIRT690644 hsa-miR-4461 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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:0005515 Function Protein binding IPI 25910212, 32296183
GO:0005543 Function Phospholipid binding IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614442 19096 ENSG00000125637
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NDX1
Protein name PH and SEC7 domain-containing protein 4 (Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 B) (Exchange factor for ARF6 B) (Pleckstrin homology and SEC7 domain-containing protein 4) (Telomeric of interleukin-1 cluster protein)
Protein function Guanine nucleotide exchange factor for ARF6 and ARL14/ARF7. Through ARL14 activation, controls the movement of MHC class II-containing vesicles along the actin cytoskeleton in dendritic cells. Involved in membrane recycling. Interacts with sever
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01369 Sec7 576 738 Sec7 domain Domain
PF15410 PH_9 778 892 Pleckstrin homology domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highest levels of expression are found in placenta, pancreas, spleen, thymus and peripheral blood. {ECO:0000269|PubMed:12082148}.
Sequence
MMGDYRLPDHPQPMEILNLYLGDSLEPHPGECPRETCSHEDPPEPFEEQTWATDPPEPTR
QNVPPWGSGVELTHLGSWVHQDGLEPCQEQTRATDPPESTRQDAPPWGSGVELTHLGSPS
AQREHRQNTASPGSPVNSHLPGSPKQNRSTSTQVVFWAGILQAQMCVLDLEEELEKTEGL
KAGLKCCLPTPPVDLPGDTGLHSSPPENEDSGEDSSEPEGEGQAWLREGTPDSSPQWGAE
EESMFFSNPLFLASPCSENSASGECFSWGASDSHAGVRTGPESPATLEPPLPEDTVLWEL
ESEPDLGDGAAISGHCTPPFPVPIYKPHSICWASVAAAEGAPAAPPGHGESEGDRLGPAP
SAAPCVDEALTWESGCVGSDLGPAAHPVQPWASLSPEGWQRGGPFWPQVTLNSQDRDERE
GGHPQESLPCTLAPCPWRSPASSPEPSSPESESRGPGPRPSPASSQEGSPQLQHHSSGIL
PKWTLDASQSSLLETDGEQPSSLKKKEAGEAPKPGEEVKSEGTARPAETGDVQPDIHLTS
AEHENLRTPMNSSWLPGSPMPQAQSPEEGQRPPAGDKLANGVRNNKVAWNLASRLYRLEG
FRKSEVAAYLQKNNDFSRAVAEEYLSFFQFGGQSLDRALRSFLQALVLSGETQERERILY
QFSRRFHHCNPGIFPSVDSVHTLTCAIMLLNTDLHGQNIGKSMSCQEFITNLNGLRDGGN
FPKELLKALYWSIRSEKL
EWAVDEEDTARPEKAQPSLPAGKMSKPFLQLAQDPTVPTYKQ
GILARKMHQDADGKKTPWGKRGWKMFHTLLRGMVLYFLKQGEDHCLEGESLVGQMVDEPV
GVHHSLATPATHYTKKPHVFQLRTADWRLYLFQAPTAKEMSSWIARINLAAA
THSAPPFP
AAVGSQRRFVRPILPVGPAQSSLEEQHRSHENCLDAAADDLLDLQRNLPERRGRGRELEE
HRLRKEYLEYEKTRYETYVQLLVARLHCPSDALDLWEEQLGREAGGTREPKLSLKKSHSS
PSLHQDEAPTTAKVKRNISERRTYRKIIPKRNRNQL
Sequence length 1056
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.).
3
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
CHRONIC KIDNEY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPONDYLOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Ankylosing spondylitis Ankylosing Spondylitis BEFREE 31096431
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 28928701
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Autism BEFREE 28928701
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 25115298, 27774772
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 17255760
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35140331 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 29892086
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 19699546
★☆☆☆☆
Found in Text Mining only
Gilles de la Tourette syndrome Tourette Syndrome BEFREE 24771252, 29746399, 30346484
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 17457322
★☆☆☆☆
Found in Text Mining only