Seroatlas · Human Serome Atlas

RASGRP2

RAS guanyl-releasing protein 2

Also known as: CALDAG-GEFI, GRP2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q7LDG7
Gene: RASGRP2
Ensembl: ENSG00000068831
Chromosome: 11
Canonical length: 609 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins
Subcellular location: Plasma membrane

OverviewNCBI Gene

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

Canonical amino-acid sequenceUniProt

609 residues, UniProt reviewed canonical sequence.

>Q7LDG7|RASGRP2
     1  MAGTLDLDKG CTVEELLRGC IEAFDDSGKV RDPQLVRMFL MMHPWYIPSS QLAAKLLHIY
    61  QQSRKDNSNS LQVKTCHLVR YWISAFPAEF DLNPELAEQI KELKALLDQE GNRRHSSLID
   121  IDSVPTYKWK RQVTQRNPVG QKKRKMSLLF DHLEPMELAE HLTYLEYRSF CKILFQDYHS
   181  FVTHGCTVDN PVLERFISLF NSVSQWVQLM ILSKPTAPQR ALVITHFVHV AEKLLQLQNF
   241  NTLMAVVGGL SHSSISRLKE THSHVSPETI KLWEGLTELV TATGNYGNYR RRLAACVGFR
   301  FPILGVHLKD LVALQLALPD WLDPARTRLN GAKMKQLFSI LEELAMVTSL RPPVQANPDL
   361  LSLLTVSLDQ YQTEDELYQL SLQREPRSKS SPTSPTSCTP PPRPPVLEEW TSAAKPKLDQ
   421  ALVVEHIEKM VESVFRNFDV DGDGHISQEE FQIIRGNFPY LSAFGDLDQN QDGCISREEM
   481  VSYFLRSSSV LGGRMGFVHN FQESNSLRPV ACRHCKALIL GIYKQGLKCR ACGVNCHKQC
   541  KDRLSVECRR RAQSVSLEGS APSPSPMHSH HHRAFSFSLP RPGRRGSRPP EIREEEVQTV
   601  EDGVFDIHL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RASGRP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.31
Highest tissue expression: 139 nTPM

Expression across tissuesHPA

Tissue

bone marrow: 139 nTPM
spleen: 138 nTPM
lymph node: 99 nTPM
small intestine: 82 nTPM
blood vessel: 64 nTPM
tonsil: 58 nTPM

Single-cell type

platelets: 1,342 nCPM
megakaryocytes: 637 nCPM
neutrophils: 163 nCPM
decidual stromal cells: 140 nCPM
b-cells: 133 nCPM
vascular smooth muscle cells: 110 nCPM

Immune cell

memory B-cell: 172 nTPM
non-classical monocyte: 106 nTPM
naive B-cell: 101 nTPM
T-reg: 94 nTPM
naive CD4 T-cell: 93 nTPM
intermediate monocyte: 88 nTPM

Brain region

basal ganglia: 67 nTPM
cerebral cortex: 39 nTPM
thalamus: 36 nTPM
midbrain: 27 nTPM
amygdala: 27 nTPM
hypothalamus: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RASGRP2.

Disease | AllUniProt

Conditions RASGRP2 is implicated in, by any mechanism.

Bleeding disorder, platelet-type, 18 (BDPLT18) MIM:615888

Disease | GeneticClinVar

30 pathogenic / likely-pathogenic of 330 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Platelet-type bleeding disorder 18
Abnormal platelet aggregation
RASGRP2-related disorder
Abnormal bleeding

Disease | ImmuneIEDB

Conditions an epitope on RASGRP2 was assayed in.

multiple sclerosis T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.45
gnomAD pLI: 0.24
gnomAD missense Z: 1.48
DepMap mean gene effect: -0.31
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RASGRP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

RAP1

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RASGRP2 as an antibody target. Whether an autoantibody or antibody against RASGRP2 could matter depends on whether native RASGRP2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RASGRP2 is annotated at the cell surface, where native RASGRP2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RASGRP2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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