REM2 RRAD and GEM like GTPase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: REM2provided by HGNC
Official Full Name: RRAD and GEM like GTPase 2provided by HGNC
Primary source: HGNC:HGNC:20248
See related: Ensembl:ENSG00000139890 MIM:616955; AllianceGenome:HGNC:20248
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
Summary: Predicted to enable GTP binding activity and calcium channel regulator activity. Predicted to be involved in negative regulation of high voltage-gated calcium channel activity. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in bone marrow (RPKM 2.3), spleen (RPKM 0.7) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 14q11.2

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (22883222..22887678)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (17081280..17085738)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (23352431..23356887)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

2 novel gene variants in REM2 and KCNK17 that provide a physiologically plausible explanation for variable expressivity in a large subset of patients in a multigenerational long QT syndrome type 2 family
Title: Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
report that substitution of two key amino acid residues in the Rem2 N terminus (Arg-79 and Arg-80) completely abolishes its ability to inhibit CaMKII
Title: The Ras-like GTPase Rem2 is a potent inhibitor of calcium/calmodulin-dependent kinase II activity.
conclude that endogenous Rem2 is a positive regulator of functional, excitatory synapse development and a negative regulator of dendritic complexity
Title: A loss-of-function analysis reveals that endogenous Rem2 promotes functional glutamatergic synapse formation and restricts dendritic complexity.
Rem2 has a role in neuronal plasticity hrough co-trafficking with CaMKIIa
Title: Activity-dependent subcellular cotrafficking of the small GTPase Rem2 and Ca2+/CaM-dependent protein kinase IIα.
molecular mechanisms by which Rem2 knockdown affected synaptogenesis and Ca(2) homeostasis in cultured rat hippocampal neurons
Title: Rem2-targeted shRNAs reduce frequency of miniature excitatory postsynaptic currents without altering voltage-gated Ca²⁺ currents.
our results suggest that Rem2 regulates dendritic branching and synapse development
Title: The GTPase Rem2 regulates synapse development and dendritic morphology.
Rem2 mediates the fibroblastic growth factor 2 (FGF2) signaling pathway to maintain proliferation of hESCsby suppressing the transcriptional activity of p53 and cyclin D(1)
Title: Rem2 GTPase maintains survival of human embryonic stem cells as well as enhancing reprogramming by regulating p53 and cyclin D1.
data unravel a possible molecular mechanism for Rem2-induced angiogenesis and suggests Rem2 as a potential novel target for treating pathological angiogenesis
Title: An endothelial cell genetic screen identifies the GTPase Rem2 as a suppressor of p19ARF expression that promotes endothelial cell proliferation and angiogenesis.
inhibition of L-type Ca2+ channels by Rem2 signaling may represent a new and potentially important mechanism for regulating Ca2+-triggered exocytosis in hormone-secreting cells, including insulin secretion in pancreatic beta-cells
Title: Regulation of L-type Ca2+ channel activity and insulin secretion by the Rem2 GTPase.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G31058 (e-PCR)
- UniSTS:54794

RH104328 (e-PCR)
- UniSTS:98653

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activity	IEA Inferred from Electronic Annotation more info
enables calcium channel regulator activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: GTP-binding protein REM 2

Names: RAS (RAD and GEM)-like GTP binding 2; RAS-like GTP binding 2; Rad and Gem-related 2 (rat homolog); rad and Gem-like GTP-binding protein 2

NP_775798.2

EC 3.6.5.2

XP_005267440.1

EC 3.6.5.2

XP_011534820.1

EC 3.6.5.2

XP_016876547.1

EC 3.6.5.2

XP_016876548.1

EC 3.6.5.2

XP_047287001.1

EC 3.6.5.2

XP_047287002.1

EC 3.6.5.2

XP_047287003.1

EC 3.6.5.2

XP_054231472.1

EC 3.6.5.2

XP_054231473.1

EC 3.6.5.2

XP_054231474.1

EC 3.6.5.2

XP_054231475.1

EC 3.6.5.2

XP_054231476.1

EC 3.6.5.2

XP_054231477.1

EC 3.6.5.2

XP_054231478.1

EC 3.6.5.2

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)

NM_173527.3 → NP_775798.2 GTP-binding protein REM 2

See identical proteins and their annotated locations for NP_775798.2

Status: VALIDATED

Source sequence(s)

AK096283, AL135998, BC035663

Consensus CDS

CCDS45082.1

UniProtKB/Swiss-Prot

B7Z5P1, Q8IYK8, Q8N8R8

UniProtKB/TrEMBL

A0A0S2Z647

Related

ENSP00000267396.4, ENST00000267396.9

Conserved Domains (2) summary

cd04148
Location:115 → 340

RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

smart00173
Location:115 → 278

RAS; Ras subfamily of RAS small GTPases

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000014.9 Reference GRCh38.p14 Primary Assembly

Range

22883222..22887678

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005267383.4 → XP_005267440.1 GTP-binding protein REM 2 isoform X5

UniProtKB/TrEMBL

A0A0S2Z647

Conserved Domains (2) summary

cd04148
Location:115 → 341

RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases

smart00173
Location:115 → 279

RAS; Ras subfamily of RAS small GTPases
XM_047431045.1 → XP_047287001.1 GTP-binding protein REM 2 isoform X3

UniProtKB/TrEMBL

A0A0S2Z628
XM_017021058.2 → XP_016876547.1 GTP-binding protein REM 2 isoform X1

UniProtKB/TrEMBL

A0A0S2Z647
XM_011536518.3 → XP_011534820.1 GTP-binding protein REM 2 isoform X6

Conserved Domains (1) summary

cl21455
Location:147 → 271

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
XM_017021059.2 → XP_016876548.1 GTP-binding protein REM 2 isoform X2

UniProtKB/TrEMBL

A0A0S2Z647
XM_047431047.1 → XP_047287003.1 GTP-binding protein REM 2 isoform X7
XM_047431046.1 → XP_047287002.1 GTP-binding protein REM 2 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060938.1 Alternate T2T-CHM13v2.0

Range

17081280..17085738

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054375501.1 → XP_054231476.1 GTP-binding protein REM 2 isoform X5

UniProtKB/TrEMBL

A0A0S2Z647
XM_054375499.1 → XP_054231474.1 GTP-binding protein REM 2 isoform X3

UniProtKB/TrEMBL

A0A0S2Z628
XM_054375497.1 → XP_054231472.1 GTP-binding protein REM 2 isoform X1

UniProtKB/TrEMBL

A0A0S2Z647
XM_054375502.1 → XP_054231477.1 GTP-binding protein REM 2 isoform X6
XM_054375498.1 → XP_054231473.1 GTP-binding protein REM 2 isoform X2

UniProtKB/TrEMBL

A0A0S2Z647
XM_054375503.1 → XP_054231478.1 GTP-binding protein REM 2 isoform X7
XM_054375500.1 → XP_054231475.1 GTP-binding protein REM 2 isoform X4