Gene Symbol | RASGEF1B |
Entrez Gene ID | 153020 |
Full Name | RasGEF domain family member 1B |
Synonyms | GPIG4 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Disorder MIM: |
ORF » Species Summary » Homo sapiens » RASGEF1B cDNA ORF clone
gRNAs
Gene Symbol | RASGEF1B |
Entrez Gene ID | 153020 |
Full Name | RasGEF domain family member 1B |
Synonyms | GPIG4 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Disorder MIM: |
mRNA | Protein | Name |
---|---|---|
NM_152545.2 | NP_689758.1 | ras-GEF domain-containing family member 1B isoform 1 |
XM_017007813.1 | XP_016863302.1 | ras-GEF domain-containing family member 1B isoform X2 |
NM_001300736.1 | NP_001287665.1 | ras-GEF domain-containing family member 1B isoform 3 |
NM_001300736.2 | NP_001287665.1 | ras-GEF domain-containing family member 1B isoform 3 |
XM_017007812.1 | XP_016863301.1 | ras-GEF domain-containing family member 1B isoform X1 |
NM_152545.3 | NP_689758.1 | ras-GEF domain-containing family member 1B isoform 1 |
NM_001300735.1 | NP_001287664.1 | ras-GEF domain-containing family member 1B isoform 2 |
NM_001300735.2 | NP_001287664.1 | ras-GEF domain-containing family member 1B isoform 2 |
Homo sapiens (human) | RASGEF1B | NP_689758.1 |
Pan troglodytes (chimpanzee) | RASGEF1B | XP_526570.3 |
Caenorhabditis elegans (roundworm) | R05G6.10 | NP_501217.2 |
Canis lupus familiaris (dog) | RASGEF1B | XP_005639172.1 |
Bos taurus (cattle) | RASGEF1B | NP_001077118.1 |
Mus musculus (house mouse) | Rasgef1b | NP_665838.1 |
Gallus gallus (chicken) | RASGEF1B | XP_003641217.2 |
Danio rerio (zebrafish) | rasgef1ba | NP_956123.1 |
Rattus norvegicus (Norway rat) | Rasgef1b | XP_006250753.1 |
Drosophila melanogaster (fruit fly) | CG7369 | NP_649415.2 |
Xenopus tropicalis (tropical clawed frog) | rasgef1b | NP_001016913.1 |
Inducible RasGEF1B circular RNA is a positive regulator of ICAM-1 in the TLR4/LPS pathway.
Ng WL, Marinov GK, Liau ES, Lam YL, Lim YY, Ea CK
RNA biology13(9)861-71(2016 09)
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
He M, Xu M, Zhang B, Liang J, Chen P, Lee JY, Johnson TA, Li H, Yang X, Dai J, Liang L, Gui L, Qi Q, Huang J, Li Y, Adair LS, Aung T, Cai Q, Cheng CY, Cho MC, Cho YS, Chu M, Cui B, Gao YT, Go MJ, Gu D, Gu W, Guo H, Hao Y, Hong J, Hu Z, Hu Y, Huang J, Hwang JY, Ikram MK, Jin G, Kang DH, Khor CC, Kim BJ, Kim HT, Kubo M, Lee J, Lee J, Lee NR, Li R, Li J, Liu J, Longe J, Lu W, Lu X, Miao X, Okada Y, Ong RT, Qiu G, Seielstad M, Sim X, Song H, Takeuchi F, Tanaka T, Taylor PR, Wang L, Wang W, Wang Y, Wu C, Wu Y, Xiang YB, Yamamoto K, Yang H, Liao M, Yokota M, Young T, Zhang X, Kato N, Wang QK, Zheng W, Hu FB, Lin D, Shen H, Teo YY, Mo Z, Wong TY, Lin X, Mohlke KL, Ning G, Tsunoda T, Han BG, Shu XO, Tai ES, Wu T, Qi L
Human molecular genetics24(6)1791-800(2015 Mar)
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies.
, ,
The American journal of psychiatry170(2)207-17(2013 Feb)
8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
Lipska BS, Brzeskwiniewicz M, Wierzba J, Morzuchi L, Piotrowski A, Limon J
Genetic counseling (Geneva, Switzerland)22(4)353-63(2011)
RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange.
Yaman E, Gasper R, Koerner C, Wittinghofer A, Tazebay UH
The FEBS journal276(16)4607-16(2009 Aug)
GeneRIFs: Gene References Into Functions What's a GeneRIF?
We show that knockdown of the expression of mcircRasGEF1B reduces LPS-induced ICAM-1 expression. Additionally, we demonstrate that mcircRasGEF1B regulates the stability of mature ICAM-1 mRNAs.
Title: Inducible RasGEF1B circular RNA is a positive regulator of ICAM-1 in the TLR4/LPS pathway.
As an addition to PRKG2 and RASGEFIB genes, we propose to include BMP3 gene as the principal determinant of the observed common phenotype.
Title: 8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism.
Mutation of the Ser39 in Rap1 changed the specificity and allowed the nucleotide exchange of Rap1(S39F) to be stimulated by RasGEF1B
Title: RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange.
The following RASGEF1B gene cDNA ORF clone sequences were retrieved from the NCBI Reference Sequence Database (RefSeq). These sequences represent the protein coding region of the RASGEF1B cDNA ORF which is encoded by the open reading frame (ORF) sequence. ORF sequences can be delivered in our standard vector, pcDNA3.1+/C-(K)DYK or the vector of your choice as an expression/transfection-ready ORF clone. Not the clone you want? Click here to find your clone.
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CloneID | OHu06834![]() |
|
Clone ID Related Accession (Same CDS sequence) | NM_152545.2 , XM_017007813.1 , NM_152545.3 | |
Accession Version | NM_152545.3 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1422bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-06-01 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform 1 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from AK056257.1 and AC006287.1. On Jun 2, 2019 this sequence version replaced NM_152545.2. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK056257.1, SRR1803614.95265.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_689758.1 |
CDS | 145..1566 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu38732 | |
Clone ID Related Accession (Same CDS sequence) | NM_001300735.1 , NM_001300735.2 | |
Accession Version | NM_001300735.1 | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1419bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2018-06-29 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform 2 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DR002387.1, BC121003.1 and AC006287.1. On Jul 11, 2014 this sequence version replaced XM_005262776.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1660809.206051.1, SRR1803613.42258.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001287664.1 |
CDS | 166..1584 |
Translation |
Target ORF information:
Target ORF information:
|
![]() |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu38732 | |
Clone ID Related Accession (Same CDS sequence) | NM_001300735.1 , NM_001300735.2 | |
Accession Version | NM_001300735.2 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1419bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-07-09 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform 2 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DR002387.1, BC121003.1 and AC006287.1. On Jun 2, 2019 this sequence version replaced NM_001300735.1. Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.42258.1, SRR1660809.206051.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001287664.1 |
CDS | 145..1563 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu06834 | |
Clone ID Related Accession (Same CDS sequence) | NM_152545.2 , XM_017007813.1 , NM_152545.3 | |
Accession Version | NM_152545.2 | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1422bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2018-06-29 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform 1 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DR002387.1, AK056257.1 and AC006287.1. On Jul 11, 2014 this sequence version replaced NM_152545.1. Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: SRR1803613.158476.1, SRR1803614.95265.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_689758.1 |
CDS | 166..1587 |
Translation |
Target ORF information:
Target ORF information:
|
![]() |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu38734 | |
Clone ID Related Accession (Same CDS sequence) | NM_001300736.1 , NM_001300736.2 | |
Accession Version | NM_001300736.1 | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1296bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2018-06-29 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform 3 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DR002387.1, BC121004.1 and AC006287.1. On Jul 11, 2014 this sequence version replaced XM_005262777.1. Transcript Variant: This variant (3) lacks an in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: AK303625.1, BC121004.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001287665.1 |
CDS | 166..1461 |
Translation |
Target ORF information:
Target ORF information:
|
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1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu38734 | |
Clone ID Related Accession (Same CDS sequence) | NM_001300736.1 , NM_001300736.2 | |
Accession Version | NM_001300736.2 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1296bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-06-01 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform 3 | |
Comment | Comment: VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from DR002387.1, BC121004.1 and AC006287.1. On Jun 2, 2019 this sequence version replaced NM_001300736.1. Transcript Variant: This variant (3) lacks an in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. ##Evidence-Data-START## Transcript exon combination :: BC121004.1, AK303625.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end. |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | NP_001287665.1 |
CDS | 145..1440 |
Translation |
Target ORF information:
Target ORF information:
|
![]() |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu06834 | |
Clone ID Related Accession (Same CDS sequence) | NM_152545.2 , XM_017007813.1 , NM_152545.3 | |
Accession Version | XM_017007813.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1422bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-12-05 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform X2 | |
Comment | Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000004.12) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | XP_016863302.1 |
CDS | 254..1675 |
Translation |
Target ORF information:
Target ORF information:
|
![]() |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
CloneID | OHu38733 | |
Clone ID Related Accession (Same CDS sequence) | XM_017007812.1 | |
Accession Version | XM_017007812.1 Latest version! | Documents for ORF clone product in default vector |
Sequence Information | ORF Nucleotide Sequence (Length: 1299bp) Protein sequence SNP |
|
Vector | pcDNA3.1-C-(k)DYK or customized vector | ![]() |
Clone information | Clone Map | ![]() |
Tag on pcDNA3.1+/C-(K)DYK | C terminal DYKDDDDK tags | |
ORF Insert Method | CloneEZ™ Seamless cloning technology | |
Insert Structure | linear | |
Update Date | 2019-12-05 | |
Organism | Homo sapiens(human) | |
Product | ras-GEF domain-containing family member 1B isoform X1 | |
Comment | Comment: MODEL REFSEQ: This record is predicted by automated computational analysis. This record is derived from a genomic sequence (NC_000004.12) annotated using gene prediction method: Gnomon, supported by EST evidence. Also see: Documentation of NCBI's Annotation Process ##Genome-Annotation-Data-START## Annotation Provider :: NCBI Annotation Status :: Updated annotation Annotation Name :: Homo sapiens Updated Annotation Release 109.20191205 Annotation Version :: 109.20191205 Annotation Pipeline :: NCBI eukaryotic genome annotation pipeline Annotation Software Version :: 8.3 Annotation Method :: Best-placed RefSeq; propagated RefSeq model Features Annotated :: Gene; mRNA; CDS; ncRNA ##Genome-Annotation-Data-END## |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
RefSeq | XP_016863301.1 |
CDS | 7..1305 |
Translation |
Target ORF information:
Target ORF information:
|
![]() |
1 | ATGCCTCAGA CTCCTCCCTT TTCAGCAATG TTTGACAGCA GTGGTTACAA TCGAAACCTC |
The stop codons will be deleted if pcDNA3.1+/C-(K)DYK vector is selected.
Inducible RasGEF1B circular RNA is a positive regulator of ICAM-1 in the TLR4/LPS pathway. |
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. |
Common genetic variation and antidepressant efficacy in major depressive disorder: a meta-analysis of three genome-wide pharmacogenetic studies. |
8.6Mb interstitial deletion of chromosome 4q13.3q21.23 in a boy with cognitive impairment, short stature, hearing loss, skeletal abnormalities and facial dysmorphism. |
RasGEF1A and RasGEF1B are guanine nucleotide exchange factors that discriminate between Rap GTP-binding proteins and mediate Rap2-specific nucleotide exchange. |