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PSD2 pleckstrin and Sec7 domain containing 2 [ Homo sapiens (human) ]

Gene ID: 84249, updated on 22-Sep-2022

Summary

Official Symbol
PSD2provided by HGNC
Official Full Name
pleckstrin and Sec7 domain containing 2provided by HGNC
Primary source
HGNC:HGNC:19092
See related
Ensembl:ENSG00000146005 AllianceGenome:HGNC:19092
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EFA6C
Summary
Predicted to enable guanyl-nucleotide exchange factor activity and phospholipid binding activity. Predicted to be involved in regulation of ARF protein signal transduction and regulation of catalytic activity. Predicted to be located in cleavage furrow and ruffle membrane. Predicted to be active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in brain (RPKM 11.2) and testis (RPKM 0.5) See more
Orthologs
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Genomic context

See PSD2 in Genome Data Viewer
Location:
5q31.2
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (139742475..139844466)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (140320896..140369568)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (139175393..139224051)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 3182 Neighboring gene uncharacterized LOC124901085 Neighboring gene RNA, U6 small nuclear 236, pseudogene Neighboring gene PSD2 antisense RNA 1 Neighboring gene neuregulin 2 Neighboring gene uncharacterized LOC124900193 Neighboring gene mitosis associated long intergenic non-coding RNA 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp761B0514

Gene Ontology Provided by GOA

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
 
involved_in regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cleavage furrow ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
located_in neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
located_in postsynapse IEA
Inferred from Electronic Annotation
more info
 
located_in ruffle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

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_032289.4NP_115665.1  PH and SEC7 domain-containing protein 2

    See identical proteins and their annotated locations for NP_115665.1

    Status: VALIDATED

    Source sequence(s)
    AC008667, AL136559, BM663376
    Consensus CDS
    CCDS4216.1
    UniProtKB/Swiss-Prot
    Q8N3J8, Q9BQI7
    Related
    ENSP00000274710.3, ENST00000274710.4
    Conserved Domains (2) summary
    cd00171
    Location:297464
    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:510633
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    139742475..139844466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417829.1XP_047273785.1  PH and SEC7 domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N3J8
  2. XM_017009976.2XP_016865465.1  PH and SEC7 domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N3J8, Q9BQI7
    Conserved Domains (2) summary
    cd00171
    Location:297464
    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:510633
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain
  3. XM_017009977.2XP_016865466.1  PH and SEC7 domain-containing protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q8N3J8, Q9BQI7
    Conserved Domains (2) summary
    cd00171
    Location:297464
    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:510633
    PH_EFA6; Exchange Factor for ARF6 Pleckstrin homology (PH) domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    140320896..140369568
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)