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RASGRP2 RAS guanyl releasing protein 2 [ Homo sapiens (human) ]

Gene ID: 10235, updated on 11-Apr-2024

Summary

Official Symbol
RASGRP2provided by HGNC
Official Full Name
RAS guanyl releasing protein 2provided by HGNC
Primary source
HGNC:HGNC:9879
See related
Ensembl:ENSG00000068831 MIM:605577; AllianceGenome:HGNC:9879
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CDC25L; CALDAG-GEFI
Summary
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]
Expression
Broad expression in bone marrow (RPKM 28.4), lymph node (RPKM 27.5) and 17 other tissues See more
Orthologs
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Genomic context

See RASGRP2 in Genome Data Viewer
Location:
11q13.1
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (64726911..64745456, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (64720142..64738685, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (64494383..64512928, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 member 12 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64372269-64373070 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387298-64387914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64387915-64388530 Neighboring gene neurexin 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64404690-64405258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414407-64414908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64414909-64415408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64415526-64416494 Neighboring gene NRXN2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64419195-64419694 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64421037-64421537 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424149-64424650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64424651-64425150 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:64426961-64428160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64455312-64456232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4907 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64480596-64481379 Neighboring gene Sharpr-MPRA regulatory region 4107 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3481 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4908 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64492769-64493607 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64506559-64507108 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3482 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3483 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3485 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3486 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3487 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64520964-64521574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64525447-64526151 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64526152-64526855 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64526856-64527560 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64527561-64528263 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4909 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4910 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64530587-64531460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64532334-64533208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:64533209-64534081 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:64534082-64534955 Neighboring gene glycogen phosphorylase, muscle associated Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4914 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3488 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:64545791-64546392 Neighboring gene splicing factor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Platelet-type bleeding disorder 18
MedGen: C4014584 OMIM: 615888 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study for serum urate concentrations and gout among African Americans identifies genomic risk loci and a novel URAT1 loss-of-function allele.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding NAS
Non-traceable Author Statement
more info
PubMed 
enables calcium ion binding TAS
Traceable Author Statement
more info
PubMed 
enables diacylglycerol binding NAS
Non-traceable Author Statement
more info
PubMed 
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables guanyl-nucleotide exchange factor activity TAS
Traceable Author Statement
more info
PubMed 
enables lipid binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in Ras protein signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
involved_in cellular response to calcium ion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell growth NAS
Non-traceable Author Statement
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in ruffle membrane IEA
Inferred from Electronic Annotation
more info
 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RAS guanyl-releasing protein 2
Names
F25B3.3 kinase-like protein
RAS guanyl nucleotide-releasing protein 2
RAS guanyl releasing protein 2 (calcium and DAG-regulated)
calcium and DAG-regulated guanine nucleotide exchange factor I
calcium and diacylglycerol-regulated guanine nucleotide exchange factor I
cdc25-like protein
guanine exchange factor MCG7

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.

Genomic

  1. NG_007574.1 RefSeqGene

    Range
    5001..23546
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_100

mRNA and Protein(s)

  1. NM_001098670.2NP_001092140.1  RAS guanyl-releasing protein 2 isoform a

    See identical proteins and their annotated locations for NP_001092140.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 2. Variants 2, 3, and 4 all encode the same protein.
    Source sequence(s)
    AF043723, DB498812
    Consensus CDS
    CCDS31598.1
    UniProtKB/Swiss-Prot
    A6NDC7, O00538, Q7LDG7, Q9UL65
    UniProtKB/TrEMBL
    B2RBF2
    Related
    ENSP00000366717.3, ENST00000377497.7
    Conserved Domains (4) summary
    smart00147
    Location:150387
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:7121
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00051
    Location:430481
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd20861
    Location:496551
    C1_RASGRP2; protein kinase C conserved region 1 (C1 domain) found in RAS guanyl-releasing protein 2 (RASGRP2) and similar proteins
  2. NM_001098671.2NP_001092141.1  RAS guanyl-releasing protein 2 isoform a

    See identical proteins and their annotated locations for NP_001092141.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 2. Variants 2, 3, and 4 all encode the same protein.
    Source sequence(s)
    AF043723, DA286186
    Consensus CDS
    CCDS31598.1
    UniProtKB/Swiss-Prot
    A6NDC7, O00538, Q7LDG7, Q9UL65
    UniProtKB/TrEMBL
    B2RBF2
    Related
    ENSP00000377953.3, ENST00000394432.8
    Conserved Domains (4) summary
    smart00147
    Location:150387
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:7121
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00051
    Location:430481
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd20861
    Location:496551
    C1_RASGRP2; protein kinase C conserved region 1 (C1 domain) found in RAS guanyl-releasing protein 2 (RASGRP2) and similar proteins
  3. NM_001318398.2NP_001305327.1  RAS guanyl-releasing protein 2 isoform b

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and uses an alternate splice junction in the 5' end compared to variant 2. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
    Source sequence(s)
    AF081194, AK122694, DA529151
    UniProtKB/TrEMBL
    B3KV60
    Conserved Domains (4) summary
    smart00147
    Location:5242
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd00029
    Location:354403
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00051
    Location:285336
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:286339
    EF-hand_7; EF-hand domain pair
  4. NM_153819.1NP_722541.1  RAS guanyl-releasing protein 2 isoform a

    See identical proteins and their annotated locations for NP_722541.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (a). Variants 2, 3, and 4 all encode the same isoform (a).
    Source sequence(s)
    AF043723
    Consensus CDS
    CCDS31598.1
    UniProtKB/Swiss-Prot
    A6NDC7, O00538, Q7LDG7, Q9UL65
    UniProtKB/TrEMBL
    B2RBF2
    Related
    ENSP00000338864.3, ENST00000354024.7
    Conserved Domains (4) summary
    smart00147
    Location:150387
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:7121
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00051
    Location:430481
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    cd20861
    Location:496551
    C1_RASGRP2; protein kinase C conserved region 1 (C1 domain) found in RAS guanyl-releasing protein 2 (RASGRP2) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    64726911..64745456 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017017082.3XP_016872571.2  RAS guanyl-releasing protein 2 isoform X3

  2. XM_047426232.1XP_047282188.1  RAS guanyl-releasing protein 2 isoform X5

  3. XM_011544723.4XP_011543025.1  RAS guanyl-releasing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011543025.1

    UniProtKB/TrEMBL
    B2RBF2
    Conserved Domains (5) summary
    smart00147
    Location:150387
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:7121
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00029
    Location:499548
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00051
    Location:430481
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:431484
    EF-hand_7; EF-hand domain pair
  4. XM_047426231.1XP_047282187.1  RAS guanyl-releasing protein 2 isoform X4

  5. XM_011544721.2XP_011543023.1  RAS guanyl-releasing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011543023.1

    UniProtKB/TrEMBL
    B2RBF2
    Related
    ENSP00000366714.1, ENST00000377494.5
    Conserved Domains (5) summary
    smart00147
    Location:150387
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:7121
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00029
    Location:499548
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00051
    Location:430481
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:431484
    EF-hand_7; EF-hand domain pair
  6. XM_011544718.3XP_011543020.1  RAS guanyl-releasing protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011543020.1

    Conserved Domains (5) summary
    cd06224
    Location:157228
    REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    smart00147
    Location:255492
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd00029
    Location:604653
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00051
    Location:535586
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:536589
    EF-hand_7; EF-hand domain pair
  7. XM_011544720.3XP_011543022.1  RAS guanyl-releasing protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011543022.1

    UniProtKB/TrEMBL
    B2RBF2
    Conserved Domains (5) summary
    smart00147
    Location:150387
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    smart00229
    Location:7121
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00029
    Location:499548
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00051
    Location:430481
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:431484
    EF-hand_7; EF-hand domain pair
  8. XM_047426233.1XP_047282189.1  RAS guanyl-releasing protein 2 isoform X6

  9. XM_011544725.3XP_011543027.1  RAS guanyl-releasing protein 2 isoform X5

    UniProtKB/TrEMBL
    B3KV60
    Conserved Domains (4) summary
    smart00147
    Location:5242
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd00029
    Location:354403
    C1; Protein kinase C conserved region 1 (C1) . Cysteine-rich zinc binding domain. Some members of this domain family bind phorbol esters and diacylglycerol, some are reported to bind RasGTP. May occur in tandem arrangement. Diacylglycerol (DAG) is a second ...
    cd00051
    Location:285336
    EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...
    pfam13499
    Location:286339
    EF-hand_7; EF-hand domain pair

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    64720142..64738685 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054367437.1XP_054223412.1  RAS guanyl-releasing protein 2 isoform X3

  2. XM_054367436.1XP_054223411.1  RAS guanyl-releasing protein 2 isoform X2

  3. XM_054367435.1XP_054223410.1  RAS guanyl-releasing protein 2 isoform X2

  4. XM_054367433.1XP_054223408.1  RAS guanyl-releasing protein 2 isoform X1

  5. XM_054367434.1XP_054223409.1  RAS guanyl-releasing protein 2 isoform X2

  6. XM_054367439.1XP_054223414.1  RAS guanyl-releasing protein 2 isoform X6

  7. XM_054367438.1XP_054223413.1  RAS guanyl-releasing protein 2 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_005825.2: Suppressed sequence

    Description
    NM_005825.2: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.