Gram domain-containing 2A

GRAMD2A
Identifiers
Aliases	GRAMD2A , GRAMD2, GRAM domain containing 2A
External IDs	MGI: 3528937; HomoloGene: 52791; GeneCards: GRAMD2A; OMA:GRAMD2A - orthologs
Gene location (Human) Chr. Chromosome 15 (human) [1] Band 15q23 Start 72,159,806 bp [1] End 72,197,787 bp [1]
Gene location (Mouse) Chr. Chromosome 9 (mouse) [2] Band 9|9 B Start 59,587,427 bp [2] End 59,626,157 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia placenta right uterine tube right lobe of thyroid gland left lobe of thyroid gland right lung olfactory zone of nasal mucosa tail of epididymis corpus epididymis upper lobe of left lung Top expressed in layer of retina neural layer of retina lung placenta granulocyte testicle outer nuclear layer zone of skin secondary oocyte jejunum More reference expression data BioGPS n/a
Gene ontology Molecular function phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol binding lipid binding Cellular component membrane integral component of membrane intrinsic component of endoplasmic reticulum membrane extrinsic component of cytoplasmic side of plasma membrane organelle membrane contact site endoplasmic reticulum endoplasmic reticulum membrane plasma membrane Biological process endoplasmic reticulum-plasma membrane tethering regulation of store-operated calcium entry Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 196996 546134 Ensembl ENSG00000175318 ENSMUSG00000074259 UniProt Q8IUY3 Q3V3G7 RefSeq (mRNA) NM_001012642 NM_001033498 NM_001357686 NM_001379375 NM_001379376 NM_001379377 RefSeq (protein) NP_001012660 NP_001028670 NP_001344615 NP_001366304 NP_001366305 NP_001366306 Location (UCSC) Chr 15: 72.16 – 72.2 Mb Chr 9: 59.59 – 59.63 Mb PubMed search [3] [4]
Wikidata
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GRAM domain-containing 2A protein (GRAMD2A; formerly GRAMD2) is a protein encoded by the GRAMD2A gene. ^[5] Like GRAMD2B, the protein consists of a GRAM domain and a transmembrane domain that anchors it to the endoplasmic reticulum. ^{[6] [7]}

GRAMD2A is a mammalian representative of the yeast lipid transfer proteins anchored at a membrane contact site (LAM) family. ^[7] It has four paralogs: GRAMD1A, GRAMD1B, GRAMD1C and GRAMD2B. Unlike LAM and its paralogs except GRAMD2B, GRAMD2A lacks a VASt domain.

The protein localizes to sites where membranes from different organelles are in close apposition. ^[7] There, it tethers the endoplasmic reticulum to the plasma membrane through its GRAM domain binding phosphatidylinositol 4,5-bisphosphate in the plasma membrane at sites enriched for the phospholipid. ^[7] The protein ensures proper stromal interaction molecule 1 (STIM1) recruitment to these sites of membrane contact as part of the store-operated calcium entry pathway – a component of intracellular calcium homeostasis. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000175318 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000074259 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "GRAMD2A GRAM domain containing 2A [ Homo sapiens (human) ]" . Retrieved March 7, 2020.
6. "RecName: Full=GRAM domain-containing protein 2A)" . Retrieved March 7, 2020.
7. Besprozvannaya M, Dickson E, Li H, Ginburg KS, Bers DM, Auwerx J, Nunnari J (February 2018). "GRAM domain proteins specialize functionally distinct ER-PM contact sites in human cells". eLife. 22 (7) e31019. doi: 10.7554/eLife.31019 . PMC   5823543 . PMID   29469807.