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

Gene ID: 74002, updated on 5-Mar-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, Apr 2022]
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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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 (19) 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 cell projection IEA
Inferred from Electronic Annotation
more info
  
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 membrane IEA
Inferred from Electronic Annotation
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
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

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