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    Psd2 pleckstrin and Sec7 domain containing 2 [ Mus musculus (house mouse) ]

    Gene ID: 74002, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Psd2provided by MGI
    Official Full Name
    pleckstrin and Sec7 domain containing 2provided by MGI
    Primary source
    MGI:MGI:1921252
    See related
    Ensembl:ENSMUSG00000024347 AllianceGenome:MGI:1921252
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    EFA6C; 6330404E20Rik
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction. Located in several cellular components, including cleavage furrow; neuronal cell body; and ruffle membrane. Is active in glutamatergic synapse and postsynapse. Is expressed in central nervous system; eye; genitourinary system; hemolymphoid system gland; and lung. Orthologous to human PSD2 (pleckstrin and Sec7 domain containing 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in cerebellum adult (RPKM 18.6), CNS E18 (RPKM 14.6) and 6 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Psd2 in Genome Data Viewer
    Location:
    18 B2; 18 19.34 cM
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (36075480..36147768)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (35963872..36014715)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA C330008A17 gene Neighboring gene STARR-positive B cell enhancer ABC_E776 Neighboring gene predicted gene, 36416 Neighboring gene neuregulin 2 Neighboring gene STARR-seq mESC enhancer starr_44271 Neighboring gene STARR-seq mESC enhancer starr_44272 Neighboring gene predicted gene, 41694 Neighboring gene RIKEN cDNA 4930471G03 gene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Mice lacking EFA6C/Psd2, a guanine nucleotide exchange factor for Arf6, exhibit lower Purkinje cell synaptic density but normal cerebellar motor functions. Saegusa S, et al. PLoS One, 2019. PMID 31095630, Free PMC Article
    2. Cellular and subcellular localization of EFA6C, a third member of the EFA6 family, in adult mouse Purkinje cells. Matsuya S, et al. J Neurochem, 2005 May. PMID 15836626
    3. EFA6 activates Arf6 and participates in its targeting to the Flemming body during cytokinesis. Ueda T, et al. FEBS Lett, 2013 Jun 5. PMID 23603394
    4. Distinct spatiotemporal expression of EFA6D, a guanine nucleotide exchange factor for ARF6, among the EFA6 family in mouse brain. Sakagami H, et al. Brain Res, 2006 Jun 6. PMID 16707115
    5. A crucial role for Arf6 in the response of commissural axons to Slit. Kinoshita-Kawada M, et al. Development, 2019 Feb 4. PMID 30674481, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. EFA6C, a guanine nucleotide exchange factor for Arf6, plays ancillary roles in cerebellar development and motor functions
      Title: Mice lacking EFA6C/Psd2, a guanine nucleotide exchange factor for Arf6, exhibit lower Purkinje cell synaptic density but normal cerebellar motor functions.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cleavage furrow IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in dendrite IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynapse IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    PH and SEC7 domain-containing protein 2
    Names
    exchange factor for ADP-ribosylation factor guanine nucleotide factor 6 C
    exchange factor for ARF6 C
    pleckstrin homology and SEC7 domain-containing protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001289602.1 → NP_001276531.1  PH and SEC7 domain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001276531.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      BC065053, BC066026, BC066036
      Consensus CDS
      CCDS79612.1
      UniProtKB/Swiss-Prot
      Q6P1I6
      Related
      ENSMUSP00000135431.2, ENSMUST00000177432.8
      Conserved Domains (3) summary
      cd00171
      Location:294 → 461
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
      cd13295
      Location:507 → 627
      PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
      pfam00169
      Location:510 → 619
      PH; PH domain

    2. NM_028707.4 → NP_082983.3  PH and SEC7 domain-containing protein 2

      See identical proteins and their annotated locations for NP_082983.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      BC066026, BC066036
      Consensus CDS
      CCDS37767.1
      UniProtKB/Swiss-Prot
      Q6NZP0, Q6P1I6, Q6PHQ7, Q8BHR9, Q9D3B8
      Related
      ENSMUSP00000111381.3, ENSMUST00000115716.9
      Conserved Domains (2) summary
      cd00171
      Location:294 → 461
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
      cd13295
      Location:507 → 630
      PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

    RNA

    1. NR_110349.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 3' splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK045529, AK053835, BC066026, BC066036
      Related
      ENSMUST00000176472.8

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      36075480..36147768
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161295.1 → XP_036017188.1  PH and SEC7 domain-containing protein 2 isoform X1

      Conserved Domains (2) summary
      cd00171
      Location:294 → 462
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
      cd13295
      Location:508 → 631
      PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

    2. XM_011247011.4 → XP_011245313.1  PH and SEC7 domain-containing protein 2 isoform X3

      Conserved Domains (1) summary
      cd00171
      Location:294 → 420
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...

    3. XM_006526297.5 → XP_006526360.1  PH and SEC7 domain-containing protein 2 isoform X4

      Conserved Domains (1) summary
      cd00171
      Location:294 → 420
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...

    4. XM_030250620.2 → XP_030106480.1  PH and SEC7 domain-containing protein 2 isoform X2

      UniProtKB/Swiss-Prot
      Q6NZP0, Q6P1I6, Q6PHQ7, Q8BHR9, Q9D3B8
      Conserved Domains (2) summary
      cd00171
      Location:294 → 461
      Sec7; Sec7 domain; Domain named after the S. cerevisiae SEC7 gene product. The Sec7 domain is the central domain of the guanine-nucleotide-exchange factors (GEFs) of the ADP-ribosylation factor family of small GTPases (ARFs) . It carries the exchange factor ...
      cd13295
      Location:507 → 630
      PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6P1I6.1 GenPept UniProtKB/Swiss-Prot:Q6P1I6

    Gene LinkOut

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