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    Gramd2a GRAM domain containing 2A [ Mus musculus (house mouse) ]

    Gene ID: 546134, updated on 2-Jul-2024

    Summary

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    Official Symbol
    Gramd2aprovided by MGI
    Official Full Name
    GRAM domain containing 2Aprovided by MGI
    Primary source
    MGI:MGI:3528937
    See related
    Ensembl:ENSMUSG00000074259 AllianceGenome:MGI:3528937
    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
    Gramd2
    Summary
    Predicted to enable phosphatidylinositol-4,5-bisphosphate binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and regulation of store-operated calcium entry. Predicted to be located in endoplasmic reticulum and plasma membrane. Predicted to be integral component of membrane. Predicted to be active in organelle membrane contact site. Predicted to be extrinsic component of cytoplasmic side of plasma membrane and intrinsic component of endoplasmic reticulum membrane. Is expressed in cerebellum; cerebral cortex; hippocampus; retina inner nuclear layer; and retina outer nuclear layer. Orthologous to human GRAMD2A (GRAM domain containing 2A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in lung adult (RPKM 18.5), genital fat pad adult (RPKM 5.3) and 11 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Gramd2a in Genome Data Viewer
    Location:
    9 B; 9 32.05 cM
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 9 NC_000075.7 (59587116..59626156)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 9 NC_000075.6 (59679833..59718873)

    Chromosome 9 - NC_000075.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 51708 Neighboring gene poly (ADP-ribose) polymerase family, member 6 Neighboring gene STARR-seq mESC enhancer starr_24306 Neighboring gene STARR-positive B cell enhancer ABC_E1115 Neighboring gene CapStarr-seq enhancer MGSCv37_chr9:59507567-59507768 Neighboring gene uncharacterized LOC115487221 Neighboring gene pyruvate kinase, muscle Neighboring gene STARR-positive B cell enhancer mm9_chr9:59570886-59571186 Neighboring gene STARR-positive B cell enhancer mm9_chr9:59598396-59598697 Neighboring gene SUMO peptidase family member, NEDD8 specific Neighboring gene transcription factor BTF3-like Neighboring gene myosin IXa

    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. Genetic Dissection of a QTL Affecting Bone Geometry. Sabik OL, et al. G3 (Bethesda), 2017 Mar 10. PMID 28082324, Free PMC Article
    2. Genomic analysis of mouse retinal development. Blackshaw S, et al. PLoS Biol, 2004 Sep. PMID 15226823, Free PMC Article
    3. Construction of long-transcript enriched cDNA libraries from submicrogram amounts of total RNAs by a universal PCR amplification method. Piao Y, et al. Genome Res, 2001 Sep. PMID 11544199, Free PMC Article
    4. Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Hansen GM, et al. Genome Res, 2008 Oct. PMID 18799693, Free PMC Article
    5. A conditional knockout resource for the genome-wide study of mouse gene function. Skarnes WC, et al. Nature, 2011 Jun 15. PMID 21677750, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol-4,5-bisphosphate binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum-plasma membrane tethering IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum-plasma membrane tethering ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of store-operated calcium entry IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of store-operated calcium entry ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in organelle membrane contact site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in organelle membrane contact site ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    GRAM domain-containing protein 2A
    Names
    GRAM domain containing 2
    GRAM 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_001033498.2 → NP_001028670.1  GRAM domain-containing protein 2A isoform 2

      See identical proteins and their annotated locations for NP_001028670.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AC160637, AK041631
      Consensus CDS
      CCDS52818.1
      UniProtKB/Swiss-Prot
      Q3V3G7
      Related
      ENSMUSP00000096258.4, ENSMUST00000098661.10
      Conserved Domains (1) summary
      cd13220
      Location:78 → 171
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    2. NM_001357686.1 → NP_001344615.1  GRAM domain-containing protein 2A isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC160637, AK040545
      Consensus CDS
      CCDS90587.1
      UniProtKB/Swiss-Prot
      B2RSP5, Q3V3E4, Q3V3G7
      Related
      ENSMUSP00000116879.2, ENSMUST00000128944.8
      Conserved Domains (1) summary
      cd13220
      Location:86 → 179
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    3. NM_001379375.1 → NP_001366304.1  GRAM domain-containing protein 2A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC160637
      Conserved Domains (1) summary
      cd13220
      Location:85 → 178
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    4. NM_001379376.1 → NP_001366305.1  GRAM domain-containing protein 2A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC160637
      Conserved Domains (1) summary
      cd13220
      Location:68 → 161
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    5. NM_001379377.1 → NP_001366306.1  GRAM domain-containing protein 2A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC160637
      Conserved Domains (1) summary
      cd13220
      Location:68 → 161
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    6. NM_001411372.1 → NP_001398301.1  GRAM domain-containing protein 2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC160637

    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_000075.7 Reference GRCm39 C57BL/6J

      Range
      59587116..59626156
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006511272.5 → XP_006511335.1  GRAM domain-containing protein 2A isoform X4

      Conserved Domains (1) summary
      cd13220
      Location:83 → 176
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    2. XM_036155119.1 → XP_036011012.1  GRAM domain-containing protein 2A isoform X2

      Conserved Domains (1) summary
      cd13220
      Location:86 → 179
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain

    3. XM_006511270.4 → XP_006511333.1  GRAM domain-containing protein 2A isoform X1

      Conserved Domains (1) summary
      cd13220
      Location:86 → 179
      PH-GRAM_GRAMDC; GRAM domain-containing protein (GRAMDC) Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q3V3G7.1 GenPept UniProtKB/Swiss-Prot:Q3V3G7

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