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

Gene ID: 546134, updated on 11-Apr-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 (1) 

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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