RALGAPB (Ral GTPase activating protein non-catalytic subunit beta) - Rat Genome Database

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Gene: RALGAPB (Ral GTPase activating protein non-catalytic subunit beta) Homo sapiens
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Symbol: RALGAPB
Name: Ral GTPase activating protein non-catalytic subunit beta
RGD ID: 1603624
HGNC Page HGNC:29221
Description: Enables protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: dJ1100H13.1; DKFZp686N19168; DKFZp781M2411; FLJ43270; FLJ43928; KIAA1219; p170; Ral GTPase activating protein non-catalytic beta subunit; Ral GTPase activating protein, beta subunit (non-catalytic); ral GTPase-activating protein beta subunit; ral GTPase-activating protein subunit beta; RalGAPbeta; RP5-1100H13.1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382038,472,843 - 38,578,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2038,472,816 - 38,578,859 (+)EnsemblGRCh38hg38GRCh38
GRCh372037,101,486 - 37,207,501 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362036,534,900 - 36,640,918 (+)NCBINCBI36Build 36hg18NCBI36
Celera2033,812,295 - 33,918,296 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2033,838,335 - 33,944,354 (+)NCBIHuRef
CHM1_12037,005,720 - 37,111,714 (+)NCBICHM1_1
T2T-CHM13v2.02040,202,515 - 40,308,510 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10574462   PMID:11780052   PMID:12168954   PMID:12477932   PMID:14702039   PMID:15302935   PMID:15489334   PMID:16490346   PMID:17474147   PMID:19520869   PMID:21697133   PMID:21873635  
PMID:23934111   PMID:24255178   PMID:24814574   PMID:25363760   PMID:25921289   PMID:26186194   PMID:27880917   PMID:28514442   PMID:28611215   PMID:29507755   PMID:29509190   PMID:29568061  
PMID:30232004   PMID:30564305   PMID:31091453   PMID:31527615   PMID:31871319   PMID:32296183   PMID:32694731   PMID:32707033   PMID:33060197   PMID:33226137   PMID:33658012   PMID:33957083  
PMID:33961781   PMID:34009715   PMID:34079125   PMID:35271311   PMID:35439318   PMID:36215168   PMID:36931259   PMID:36976175   PMID:38777146  


Genomics

Comparative Map Data
RALGAPB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382038,472,843 - 38,578,858 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2038,472,816 - 38,578,859 (+)EnsemblGRCh38hg38GRCh38
GRCh372037,101,486 - 37,207,501 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362036,534,900 - 36,640,918 (+)NCBINCBI36Build 36hg18NCBI36
Celera2033,812,295 - 33,918,296 (+)NCBICelera
Cytogenetic Map20q11.23NCBI
HuRef2033,838,335 - 33,944,354 (+)NCBIHuRef
CHM1_12037,005,720 - 37,111,714 (+)NCBICHM1_1
T2T-CHM13v2.02040,202,515 - 40,308,510 (+)NCBIT2T-CHM13v2.0
Ralgapb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392158,251,722 - 158,341,173 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2158,251,768 - 158,341,173 (+)EnsemblGRCm39 Ensembl
GRCm382158,409,830 - 158,499,253 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2158,409,848 - 158,499,253 (+)EnsemblGRCm38mm10GRCm38
MGSCv372158,235,589 - 158,324,989 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362158,101,294 - 158,190,694 (+)NCBIMGSCv36mm8
Celera2164,346,414 - 164,436,672 (+)NCBICelera
Cytogenetic Map2H1NCBI
cM Map278.72NCBI
Ralgapb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83167,482,344 - 167,571,975 (+)NCBIGRCr8
mRatBN7.23147,062,443 - 147,152,090 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3147,062,364 - 147,152,090 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3150,911,879 - 150,984,063 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03159,411,177 - 159,483,366 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03157,146,426 - 157,218,737 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03154,910,291 - 154,983,021 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3154,905,141 - 154,983,021 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03160,623,751 - 160,696,177 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43149,137,224 - 149,212,377 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13149,031,561 - 149,118,099 (+)NCBI
Celera3145,780,077 - 145,852,667 (+)NCBICelera
Cytogenetic Map3q42NCBI
Ralgapb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544518,140,944 - 18,241,128 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544518,146,316 - 18,241,128 (-)NCBIChiLan1.0ChiLan1.0
RALGAPB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22144,197,244 - 44,304,118 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12044,190,342 - 44,297,208 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02034,797,472 - 34,903,367 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12035,906,029 - 36,011,685 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2035,906,029 - 36,011,685 (+)Ensemblpanpan1.1panPan2
RALGAPB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12426,948,626 - 27,032,092 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2426,961,628 - 27,070,850 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2426,594,210 - 26,677,570 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02427,645,025 - 27,728,261 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2427,644,901 - 27,728,254 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12426,919,244 - 27,002,002 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02427,027,094 - 27,110,307 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02427,515,215 - 27,598,354 (+)NCBIUU_Cfam_GSD_1.0
Ralgapb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640175,840,609 - 175,945,320 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365612,804,052 - 2,908,880 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365612,806,195 - 2,908,909 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RALGAPB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1741,507,806 - 41,606,898 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11741,507,756 - 41,606,903 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21746,951,706 - 47,014,116 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RALGAPB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1225,177,380 - 25,285,938 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl225,176,956 - 25,307,991 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605074,014,842 - 74,123,559 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ralgapb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248421,067,648 - 1,167,833 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248421,067,651 - 1,167,779 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RALGAPB
71 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_020336.3(RALGAPB):c.2236A>G (p.Arg746Gly) single nucleotide variant Malignant melanoma [RCV000072627] Chr20:38532850 [GRCh38]
Chr20:37161493 [GRCh37]
Chr20:36594907 [NCBI36]
Chr20:20q11.23		 not provided
NM_020336.3(RALGAPB):c.2237G>A (p.Arg746Lys) single nucleotide variant Malignant melanoma [RCV000063729] Chr20:38532851 [GRCh38]
Chr20:37161494 [GRCh37]
Chr20:36594908 [NCBI36]
Chr20:20q11.23		 not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_020336.4(RALGAPB):c.1151G>A (p.Arg384Gln) single nucleotide variant not specified [RCV004298605] Chr20:38517605 [GRCh38]
Chr20:37146248 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.37C>G (p.Gln13Glu) single nucleotide variant not specified [RCV004310835] Chr20:38488469 [GRCh38]
Chr20:37117112 [GRCh37]
Chr20:20q11.23		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_020336.4(RALGAPB):c.3388C>T (p.Arg1130Cys) single nucleotide variant not specified [RCV004322317] Chr20:38558310 [GRCh38]
Chr20:37186953 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4095G>A (p.Glu1365=) single nucleotide variant not provided [RCV000971343] Chr20:38570800 [GRCh38]
Chr20:37199443 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.1258T>C (p.Ser420Pro) single nucleotide variant High myopia [RCV000785685]|not specified [RCV004027180] Chr20:38517841 [GRCh38]
Chr20:37146484 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.457C>T (p.Arg153Cys) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850412] Chr20:38497420 [GRCh38]
Chr20:37126063 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2740C>T (p.Pro914Ser) single nucleotide variant Developmental disorder [RCV003127426] Chr20:38546268 [GRCh38]
Chr20:37174911 [GRCh37]
Chr20:20q11.23		 likely benign
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_020336.4(RALGAPB):c.2870C>T (p.Ala957Val) single nucleotide variant not provided [RCV002214224] Chr20:38546398 [GRCh38]
Chr20:37175041 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4142+1G>A single nucleotide variant Intellectual disability [RCV002287627] Chr20:38570848 [GRCh38]
Chr20:37199491 [GRCh37]
Chr20:20q11.23		 pathogenic
NM_020336.4(RALGAPB):c.3545T>C (p.Val1182Ala) single nucleotide variant not specified [RCV004308659] Chr20:38562545 [GRCh38]
Chr20:37191188 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.544A>G (p.Thr182Ala) single nucleotide variant not specified [RCV004197161] Chr20:38497507 [GRCh38]
Chr20:37126150 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3528A>C (p.Gln1176His) single nucleotide variant not specified [RCV004216312] Chr20:38558450 [GRCh38]
Chr20:37187093 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.458G>A (p.Arg153His) single nucleotide variant not specified [RCV004239391] Chr20:38497421 [GRCh38]
Chr20:37126064 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.748C>T (p.Arg250Cys) single nucleotide variant not specified [RCV004194493] Chr20:38509084 [GRCh38]
Chr20:37137727 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1306C>G (p.Arg436Gly) single nucleotide variant not specified [RCV004157629] Chr20:38517889 [GRCh38]
Chr20:37146532 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1755T>A (p.Phe585Leu) single nucleotide variant not specified [RCV004156619] Chr20:38524913 [GRCh38]
Chr20:37153556 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3199G>A (p.Ala1067Thr) single nucleotide variant not specified [RCV004232452] Chr20:38553903 [GRCh38]
Chr20:37182546 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3439G>T (p.Asp1147Tyr) single nucleotide variant not specified [RCV004085517] Chr20:38558361 [GRCh38]
Chr20:37187004 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1093G>A (p.Val365Met) single nucleotide variant not specified [RCV004096809] Chr20:38517547 [GRCh38]
Chr20:37146190 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4481C>A (p.Ser1494Tyr) single nucleotide variant not specified [RCV004157577] Chr20:38574963 [GRCh38]
Chr20:37203606 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3079C>G (p.Pro1027Ala) single nucleotide variant not specified [RCV004186203] Chr20:38551140 [GRCh38]
Chr20:37179783 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1471A>G (p.Thr491Ala) single nucleotide variant not specified [RCV004128294] Chr20:38521550 [GRCh38]
Chr20:37150193 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3878C>T (p.Pro1293Leu) single nucleotide variant not specified [RCV004148262] Chr20:38567156 [GRCh38]
Chr20:37195799 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2087T>C (p.Leu696Ser) single nucleotide variant not specified [RCV004166366] Chr20:38531203 [GRCh38]
Chr20:37159846 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3706T>C (p.Ser1236Pro) single nucleotide variant not specified [RCV004177442] Chr20:38565367 [GRCh38]
Chr20:37194010 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.623C>G (p.Thr208Ser) single nucleotide variant not specified [RCV004103332] Chr20:38499516 [GRCh38]
Chr20:37128159 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4255C>T (p.Leu1419Phe) single nucleotide variant not specified [RCV004167492] Chr20:38574262 [GRCh38]
Chr20:37202905 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3452A>G (p.Tyr1151Cys) single nucleotide variant not specified [RCV004277223] Chr20:38558374 [GRCh38]
Chr20:37187017 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2732G>A (p.Gly911Asp) single nucleotide variant not specified [RCV004280020] Chr20:38546260 [GRCh38]
Chr20:37174903 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2627A>G (p.Asn876Ser) single nucleotide variant not specified [RCV004254813] Chr20:38541105 [GRCh38]
Chr20:37169748 [GRCh37]
Chr20:20q11.23		 likely benign
NM_020336.4(RALGAPB):c.3835A>G (p.Asn1279Asp) single nucleotide variant not specified [RCV004277009] Chr20:38567113 [GRCh38]
Chr20:37195756 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1374C>A (p.His458Gln) single nucleotide variant not specified [RCV004323607] Chr20:38517957 [GRCh38]
Chr20:37146600 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4286C>T (p.Ala1429Val) single nucleotide variant not specified [RCV004329731] Chr20:38574293 [GRCh38]
Chr20:37202936 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2965C>G (p.Gln989Glu) single nucleotide variant not specified [RCV004364954] Chr20:38548751 [GRCh38]
Chr20:37177394 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4100G>C (p.Ser1367Thr) single nucleotide variant not specified [RCV004358564] Chr20:38570805 [GRCh38]
Chr20:37199448 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.811C>G (p.Pro271Ala) single nucleotide variant RALGAPB-related disorder [RCV003397425] Chr20:38509147 [GRCh38]
Chr20:37137790 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1832G>A (p.Arg611Gln) single nucleotide variant not provided [RCV003440398] Chr20:38525448 [GRCh38]
Chr20:37154091 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3920C>G (p.Pro1307Arg) single nucleotide variant not provided [RCV003491393] Chr20:38567198 [GRCh38]
Chr20:37195841 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1180G>A (p.Ala394Thr) single nucleotide variant not specified [RCV004445679] Chr20:38517634 [GRCh38]
Chr20:37146277 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1213C>T (p.His405Tyr) single nucleotide variant not specified [RCV004445680] Chr20:38517796 [GRCh38]
Chr20:37146439 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1661A>G (p.Tyr554Cys) single nucleotide variant not specified [RCV004445681] Chr20:38524819 [GRCh38]
Chr20:37153462 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2327A>G (p.Gln776Arg) single nucleotide variant not specified [RCV004445682] Chr20:38535155 [GRCh38]
Chr20:37163798 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3064T>G (p.Ser1022Ala) single nucleotide variant not specified [RCV004445685] Chr20:38551125 [GRCh38]
Chr20:37179768 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3368T>G (p.Leu1123Arg) single nucleotide variant not specified [RCV004445686] Chr20:38554072 [GRCh38]
Chr20:37182715 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3865A>G (p.Met1289Val) single nucleotide variant not specified [RCV004445688] Chr20:38567143 [GRCh38]
Chr20:37195786 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4283G>C (p.Arg1428Pro) single nucleotide variant not specified [RCV004445690] Chr20:38574290 [GRCh38]
Chr20:37202933 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3962C>T (p.Pro1321Leu) single nucleotide variant RALGAPB-related disorder [RCV003961491] Chr20:38569895 [GRCh38]
Chr20:37198538 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.3373G>A (p.Glu1125Lys) single nucleotide variant not specified [RCV004445687] Chr20:38558295 [GRCh38]
Chr20:37186938 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4249A>C (p.Ile1417Leu) single nucleotide variant not specified [RCV004445689] Chr20:38574256 [GRCh38]
Chr20:37202899 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.728C>G (p.Ala243Gly) single nucleotide variant not specified [RCV004445692] Chr20:38499621 [GRCh38]
Chr20:37128264 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4292-15CT[2] microsatellite RALGAPB-related disorder [RCV003958973] Chr20:38574759..38574760 [GRCh38]
Chr20:37203402..37203403 [GRCh37]
Chr20:20q11.23		 likely benign
NM_020336.4(RALGAPB):c.3571C>T (p.His1191Tyr) single nucleotide variant RALGAPB-related disorder [RCV003927358] Chr20:38562571 [GRCh38]
Chr20:37191214 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.554-10T>C single nucleotide variant RALGAPB-related disorder [RCV003976315] Chr20:38499437 [GRCh38]
Chr20:37128080 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.2788A>G (p.Thr930Ala) single nucleotide variant not specified [RCV004445683] Chr20:38546316 [GRCh38]
Chr20:37174959 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3852T>C (p.Asp1284=) single nucleotide variant RALGAPB-related disorder [RCV003931544] Chr20:38567130 [GRCh38]
Chr20:37195773 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.4006C>T (p.Pro1336Ser) single nucleotide variant RALGAPB-related disorder [RCV003936893] Chr20:38569939 [GRCh38]
Chr20:37198582 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.2189C>T (p.Thr730Met) single nucleotide variant RALGAPB-related disorder [RCV003909238] Chr20:38532803 [GRCh38]
Chr20:37161446 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.4049G>A (p.Arg1350His) single nucleotide variant RALGAPB-related disorder [RCV003947346] Chr20:38569982 [GRCh38]
Chr20:37198625 [GRCh37]
Chr20:20q11.23		 likely benign
NM_020336.4(RALGAPB):c.2994A>G (p.Ala998=) single nucleotide variant RALGAPB-related disorder [RCV003917068] Chr20:38548780 [GRCh38]
Chr20:37177423 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.1284A>G (p.Glu428=) single nucleotide variant RALGAPB-related disorder [RCV003903850] Chr20:38517867 [GRCh38]
Chr20:37146510 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.251A>G (p.Lys84Arg) single nucleotide variant RALGAPB-related disorder [RCV003899786] Chr20:38492994 [GRCh38]
Chr20:37121637 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2430G>T (p.Val810=) single nucleotide variant RALGAPB-related disorder [RCV003972062] Chr20:38539826 [GRCh38]
Chr20:37168469 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.4359T>C (p.Ser1453=) single nucleotide variant RALGAPB-related disorder [RCV003911720] Chr20:38574841 [GRCh38]
Chr20:37203484 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.826A>C (p.Asn276His) single nucleotide variant RALGAPB-related disorder [RCV003944370] Chr20:38509162 [GRCh38]
Chr20:37137805 [GRCh37]
Chr20:20q11.23		 benign
NM_020336.4(RALGAPB):c.479G>A (p.Arg160Gln) single nucleotide variant not specified [RCV004445691] Chr20:38497442 [GRCh38]
Chr20:37126085 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.865A>G (p.Met289Val) single nucleotide variant not specified [RCV004445693] Chr20:38509201 [GRCh38]
Chr20:37137844 [GRCh37]
Chr20:20q11.23		 uncertain significance
NC_000020.10:g.(?_37060620)_(37581163_?)dup duplication not provided [RCV004580995] Chr20:37060620..37581163 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4144T>G (p.Ser1382Ala) single nucleotide variant not specified [RCV004665370] Chr20:38574151 [GRCh38]
Chr20:37202794 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1597A>C (p.Ile533Leu) single nucleotide variant not specified [RCV004665371] Chr20:38521676 [GRCh38]
Chr20:37150319 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3260G>T (p.Arg1087Ile) single nucleotide variant not specified [RCV004665374] Chr20:38553964 [GRCh38]
Chr20:37182607 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1142C>A (p.Pro381Gln) single nucleotide variant not specified [RCV004665373] Chr20:38517596 [GRCh38]
Chr20:37146239 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4474T>C (p.Cys1492Arg) single nucleotide variant not specified [RCV004665375] Chr20:38574956 [GRCh38]
Chr20:37203599 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.1549T>G (p.Cys517Gly) single nucleotide variant not specified [RCV004665377] Chr20:38521628 [GRCh38]
Chr20:37150271 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2876T>C (p.Leu959Pro) single nucleotide variant not specified [RCV004669530] Chr20:38546404 [GRCh38]
Chr20:37175047 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.4243A>G (p.Met1415Val) single nucleotide variant not specified [RCV004669533] Chr20:38574250 [GRCh38]
Chr20:37202893 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3053G>C (p.Gly1018Ala) single nucleotide variant not specified [RCV004669534] Chr20:38551114 [GRCh38]
Chr20:37179757 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu) single nucleotide variant Septo-optic dysplasia sequence [RCV000509009] Chr20:38535152 [GRCh38]
Chr20:37163795 [GRCh37]
Chr20:20q11.23		 likely pathogenic
NM_020336.4(RALGAPB):c.2408G>A (p.Arg803Gln) single nucleotide variant not specified [RCV004353953] Chr20:38539804 [GRCh38]
Chr20:37168447 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3698A>T (p.Glu1233Val) single nucleotide variant not specified [RCV004360296] Chr20:38565359 [GRCh38]
Chr20:37194002 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2872A>G (p.Met958Val) single nucleotide variant not specified [RCV004665372] Chr20:38546400 [GRCh38]
Chr20:37175043 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.2296G>A (p.Val766Ile) single nucleotide variant not specified [RCV004669531] Chr20:38535124 [GRCh38]
Chr20:37163767 [GRCh37]
Chr20:20q11.23		 uncertain significance
NM_020336.4(RALGAPB):c.3326G>A (p.Arg1109His) single nucleotide variant not specified [RCV004669532] Chr20:38554030 [GRCh38]
Chr20:37182673 [GRCh37]
Chr20:20q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6834
Count of miRNA genes:1110
Interacting mature miRNAs:1365
Transcripts:ENST00000262879, ENST00000397038, ENST00000397040, ENST00000397042, ENST00000438490, ENST00000461147, ENST00000461423, ENST00000490114, ENST00000495949, ENST00000537204
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1300007BP29_HBlood pressure QTL 29 (human)Blood pressurehypertension susceptibility203653600562536005Human
407343340GWAS992316_Hsleep duration QTL GWAS992316 (human)0.000009sleep duration203854956338549564Human
407042942GWAS691918_Hbody mass index QTL GWAS691918 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)203856993938569940Human

Markers in Region
STS-AA024902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,205,283 - 37,205,508UniSTSGRCh37
Build 362036,638,697 - 36,638,922RGDNCBI36
Celera2033,916,073 - 33,916,298RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,942,131 - 33,942,356UniSTS
GeneMap99-GB4 RH Map20210.97UniSTS
D20S1028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,139,685 - 37,139,863UniSTSGRCh37
Build 362036,573,099 - 36,573,277RGDNCBI36
Celera2033,850,485 - 33,850,663RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,876,544 - 33,876,722UniSTS
Whitehead-RH Map20234.9UniSTS
Whitehead-YAC Contig Map20 UniSTS
SHGC-81042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,166,519 - 37,166,820UniSTSGRCh37
Build 362036,599,933 - 36,600,234RGDNCBI36
Celera2033,877,308 - 33,877,609RGD
Cytogenetic Map20q11.2UniSTS
Cytogenetic Map20q11.23UniSTS
HuRef2033,903,366 - 33,903,667UniSTS
TNG Radiation Hybrid Map2017251.0UniSTS
SHGC-132362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,207,243 - 37,207,454UniSTSGRCh37
Build 362036,640,657 - 36,640,868RGDNCBI36
Celera2033,918,035 - 33,918,246RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,944,093 - 33,944,304UniSTS
TNG Radiation Hybrid Map2017187.0UniSTS
RH67965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,204,276 - 37,204,400UniSTSGRCh37
Build 362036,637,690 - 36,637,814RGDNCBI36
Celera2033,915,066 - 33,915,190RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,941,124 - 33,941,248UniSTS
GeneMap99-GB4 RH Map20220.51UniSTS
RH65522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,204,565 - 37,204,715UniSTSGRCh37
Build 362036,637,979 - 36,638,129RGDNCBI36
Celera2033,915,355 - 33,915,505RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,941,413 - 33,941,563UniSTS
GeneMap99-GB4 RH Map20220.51UniSTS
SHGC-52414  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,199,360 - 37,199,521UniSTSGRCh37
Build 362036,632,774 - 36,632,935RGDNCBI36
Celera2033,910,150 - 33,910,311RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,936,208 - 33,936,369UniSTS
GeneMap99-G3 RH Map202044.0UniSTS
RH69489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,202,105 - 37,202,228UniSTSGRCh37
Build 362036,635,519 - 36,635,642RGDNCBI36
Celera2033,912,895 - 33,913,018RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,938,953 - 33,939,076UniSTS
GeneMap99-GB4 RH Map20220.51UniSTS
D20S795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,112,866 - 37,112,973UniSTSGRCh37
Build 362036,546,280 - 36,546,387RGDNCBI36
Celera2033,823,667 - 33,823,774RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,849,732 - 33,849,839UniSTS
TNG Radiation Hybrid Map2017148.0UniSTS
Stanford-G3 RH Map202011.0UniSTS
NCBI RH Map20348.8UniSTS
Z94367  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,198,887 - 37,199,010UniSTSGRCh37
Build 362036,632,301 - 36,632,424RGDNCBI36
Celera2033,909,677 - 33,909,800RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,935,735 - 33,935,858UniSTS
SHGC-2403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,207,243 - 37,207,441UniSTSGRCh37
Build 362036,640,657 - 36,640,855RGDNCBI36
Celera2033,918,035 - 33,918,233RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,944,093 - 33,944,291UniSTS
Stanford-G3 RH Map202015.0UniSTS
GeneMap99-GB4 RH Map20214.11UniSTS
Whitehead-RH Map20234.1UniSTS
GeneMap99-G3 RH Map202048.0UniSTS
WI-13938  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,207,353 - 37,207,464UniSTSGRCh37
Build 362036,640,767 - 36,640,878RGDNCBI36
Celera2033,918,145 - 33,918,256RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,944,203 - 33,944,314UniSTS
GeneMap99-GB4 RH Map20213.88UniSTS
Whitehead-RH Map20242.1UniSTS
NCBI RH Map20348.8UniSTS
D20S690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,204,998 - 37,205,129UniSTSGRCh37
Build 362036,638,412 - 36,638,543RGDNCBI36
Celera2033,915,788 - 33,915,919RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,941,846 - 33,941,977UniSTS
GeneMap99-GB4 RH Map20215.25UniSTS
NCBI RH Map20321.8UniSTS
RH48061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,206,494 - 37,206,667UniSTSGRCh37
Build 362036,639,908 - 36,640,081RGDNCBI36
Celera2033,917,286 - 33,917,459RGD
Cytogenetic Map20q11.23UniSTS
HuRef2033,943,344 - 33,943,517UniSTS
GeneMap99-GB4 RH Map20231.37UniSTS
NCBI RH Map20340.9UniSTS
RH98514  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372037,202,917 - 37,203,521UniSTSGRCh37
Celera2033,913,707 - 33,914,311UniSTS
Cytogenetic Map20q11.23UniSTS
HuRef2033,939,765 - 33,940,369UniSTS
GeneMap99-GB4 RH Map20232.04UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005260465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440315 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB033045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB621815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE669526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR936800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262879   ⟹   ENSP00000262879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,472,843 - 38,578,858 (+)Ensembl
Ensembl Acc Id: ENST00000397040   ⟹   ENSP00000380233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,472,900 - 38,578,859 (+)Ensembl
Ensembl Acc Id: ENST00000397042   ⟹   ENSP00000380235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,472,816 - 38,578,859 (+)Ensembl
Ensembl Acc Id: ENST00000438490   ⟹   ENSP00000416646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,497,480 - 38,575,070 (+)Ensembl
Ensembl Acc Id: ENST00000461147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,568,467 - 38,578,065 (+)Ensembl
Ensembl Acc Id: ENST00000461423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,509,085 - 38,548,106 (+)Ensembl
Ensembl Acc Id: ENST00000490114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,573,659 - 38,575,993 (+)Ensembl
Ensembl Acc Id: ENST00000495949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,497,438 - 38,500,003 (+)Ensembl
Ensembl Acc Id: ENST00000632792   ⟹   ENSP00000487816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2038,525,515 - 38,577,226 (+)Ensembl
RefSeq Acc Id: NM_001282917   ⟹   NP_001269846
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,472,843 - 38,578,858 (+)NCBI
HuRef2033,838,298 - 33,944,354 (+)NCBI
CHM1_12037,005,683 - 37,111,714 (+)NCBI
T2T-CHM13v2.02040,202,515 - 40,308,510 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282918   ⟹   NP_001269847
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,472,843 - 38,578,858 (+)NCBI
HuRef2033,838,298 - 33,944,354 (+)NCBI
CHM1_12037,005,683 - 37,111,714 (+)NCBI
T2T-CHM13v2.02040,202,515 - 40,308,510 (+)NCBI
Sequence:
RefSeq Acc Id: NM_020336   ⟹   NP_065069
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,472,843 - 38,578,858 (+)NCBI
GRCh372037,101,486 - 37,207,504 (+)NCBI
Build 362036,534,900 - 36,640,918 (+)NCBI Archive
Celera2033,812,295 - 33,918,296 (+)RGD
HuRef2033,838,298 - 33,944,354 (+)NCBI
CHM1_12037,005,683 - 37,111,714 (+)NCBI
T2T-CHM13v2.02040,202,515 - 40,308,510 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260462   ⟹   XP_005260519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,488,403 - 38,578,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005260465   ⟹   XP_005260522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,488,403 - 38,578,858 (+)NCBI
GRCh372037,101,486 - 37,207,504 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027966   ⟹   XP_016883455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,488,403 - 38,578,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027967   ⟹   XP_016883456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,488,403 - 38,578,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027968   ⟹   XP_016883457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,493,053 - 38,578,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027970   ⟹   XP_016883459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,535,213 - 38,578,858 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047440314   ⟹   XP_047296270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,488,403 - 38,578,858 (+)NCBI
RefSeq Acc Id: XM_047440315   ⟹   XP_047296271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,488,403 - 38,578,858 (+)NCBI
RefSeq Acc Id: XM_047440316   ⟹   XP_047296272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,488,403 - 38,574,272 (+)NCBI
RefSeq Acc Id: XM_047440317   ⟹   XP_047296273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,535,213 - 38,578,858 (+)NCBI
RefSeq Acc Id: XM_054323731   ⟹   XP_054179706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,218,069 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323732   ⟹   XP_054179707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,218,069 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323733   ⟹   XP_054179708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,218,069 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323734   ⟹   XP_054179709
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,218,069 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323735   ⟹   XP_054179710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,218,069 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323736   ⟹   XP_054179711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,218,069 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323737   ⟹   XP_054179712
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,222,719 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323738   ⟹   XP_054179713
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,218,069 - 40,303,922 (+)NCBI
RefSeq Acc Id: XM_054323739   ⟹   XP_054179714
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,264,862 - 40,308,510 (+)NCBI
RefSeq Acc Id: XM_054323740   ⟹   XP_054179715
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02040,264,862 - 40,308,510 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001269846 (Get FASTA)   NCBI Sequence Viewer  
  NP_001269847 (Get FASTA)   NCBI Sequence Viewer  
  NP_065069 (Get FASTA)   NCBI Sequence Viewer  
  XP_005260519 (Get FASTA)   NCBI Sequence Viewer  
  XP_005260522 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883455 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883456 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883457 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883459 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296270 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296271 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296272 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296273 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179706 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179707 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179708 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179709 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179710 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179711 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179712 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179713 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179714 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179715 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH10916 (Get FASTA)   NCBI Sequence Viewer  
  AAH18668 (Get FASTA)   NCBI Sequence Viewer  
  AAH47482 (Get FASTA)   NCBI Sequence Viewer  
  BAA86533 (Get FASTA)   NCBI Sequence Viewer  
  BAC85649 (Get FASTA)   NCBI Sequence Viewer  
  BAG54177 (Get FASTA)   NCBI Sequence Viewer  
  BAG65110 (Get FASTA)   NCBI Sequence Viewer  
  BAK64151 (Get FASTA)   NCBI Sequence Viewer  
  CAB61346 (Get FASTA)   NCBI Sequence Viewer  
  CAD39096 (Get FASTA)   NCBI Sequence Viewer  
  CAE46039 (Get FASTA)   NCBI Sequence Viewer  
  EAW76018 (Get FASTA)   NCBI Sequence Viewer  
  EAW76019 (Get FASTA)   NCBI Sequence Viewer  
  EAW76020 (Get FASTA)   NCBI Sequence Viewer  
  EAW76021 (Get FASTA)   NCBI Sequence Viewer  
  EAW76022 (Get FASTA)   NCBI Sequence Viewer  
  EAW76023 (Get FASTA)   NCBI Sequence Viewer  
  EAW76024 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262879
  ENSP00000262879.6
  ENSP00000380233
  ENSP00000380233.1
  ENSP00000380235
  ENSP00000380235.3
  ENSP00000416646
  ENSP00000416646.1
  ENSP00000487816.1
GenBank Protein Q86X10 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_065069   ⟸   NM_020336
- Peptide Label: isoform 1
- UniProtKB: Q9ULK1 (UniProtKB/Swiss-Prot),   Q9UJR1 (UniProtKB/Swiss-Prot),   Q9H3X8 (UniProtKB/Swiss-Prot),   Q8WWC0 (UniProtKB/Swiss-Prot),   Q8N3D1 (UniProtKB/Swiss-Prot),   Q5TG31 (UniProtKB/Swiss-Prot),   A2A2E9 (UniProtKB/Swiss-Prot),   A2A2E8 (UniProtKB/Swiss-Prot),   Q9Y3G9 (UniProtKB/Swiss-Prot),   Q86X10 (UniProtKB/Swiss-Prot),   A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260519   ⟸   XM_005260462
- Peptide Label: isoform X1
- UniProtKB: A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005260522   ⟸   XM_005260465
- Peptide Label: isoform X5
- UniProtKB: A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269847   ⟸   NM_001282918
- Peptide Label: isoform 2
- UniProtKB: A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269846   ⟸   NM_001282917
- Peptide Label: isoform 1
- UniProtKB: Q9ULK1 (UniProtKB/Swiss-Prot),   Q9UJR1 (UniProtKB/Swiss-Prot),   Q9H3X8 (UniProtKB/Swiss-Prot),   Q8WWC0 (UniProtKB/Swiss-Prot),   Q8N3D1 (UniProtKB/Swiss-Prot),   Q5TG31 (UniProtKB/Swiss-Prot),   A2A2E9 (UniProtKB/Swiss-Prot),   A2A2E8 (UniProtKB/Swiss-Prot),   Q9Y3G9 (UniProtKB/Swiss-Prot),   Q86X10 (UniProtKB/Swiss-Prot),   A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883455   ⟸   XM_017027966
- Peptide Label: isoform X4
- UniProtKB: A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883456   ⟸   XM_017027967
- Peptide Label: isoform X6
- UniProtKB: A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883457   ⟸   XM_017027968
- Peptide Label: isoform X7
- UniProtKB: A2A2F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883459   ⟸   XM_017027970
- Peptide Label: isoform X9
- UniProtKB: B3KWL5 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000416646   ⟸   ENST00000438490
Ensembl Acc Id: ENSP00000262879   ⟸   ENST00000262879
Ensembl Acc Id: ENSP00000487816   ⟸   ENST00000632792
Ensembl Acc Id: ENSP00000380235   ⟸   ENST00000397042
Ensembl Acc Id: ENSP00000380233   ⟸   ENST00000397040
RefSeq Acc Id: XP_047296270   ⟸   XM_047440314
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047296271   ⟸   XM_047440315
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047296272   ⟸   XM_047440316
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047296273   ⟸   XM_047440317
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054179706   ⟸   XM_054323731
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054179707   ⟸   XM_054323732
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054179708   ⟸   XM_054323733
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054179709   ⟸   XM_054323734
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054179710   ⟸   XM_054323735
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054179711   ⟸   XM_054323736
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054179713   ⟸   XM_054323738
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054179712   ⟸   XM_054323737
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054179714   ⟸   XM_054323739
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054179715   ⟸   XM_054323740
- Peptide Label: isoform X10
Protein Domains
Ral GTPase-activating protein subunit alpha/beta N-   Rap-GAP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86X10-F1-model_v2 AlphaFold Q86X10 1-1494 view protein structure

Promoters
RGD ID:6798742
Promoter ID:HG_KWN:39395
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000304939,   ENST00000397038,   ENST00000397040,   OTTHUMT00000079191,   UC002XIX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362036,534,509 - 36,535,009 (+)MPROMDB
RGD ID:13206917
Promoter ID:EPDNEW_H27039
Type:initiation region
Name:RALGAPB_2
Description:Ral GTPase activating protein non-catalytic beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27040  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,472,451 - 38,472,511EPDNEW
RGD ID:13206919
Promoter ID:EPDNEW_H27040
Type:initiation region
Name:RALGAPB_1
Description:Ral GTPase activating protein non-catalytic beta subunit
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H27039  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382038,472,847 - 38,472,907EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29221 AgrOrtholog
COSMIC RALGAPB COSMIC
Ensembl Genes ENSG00000170471 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262879 ENTREZGENE
  ENST00000262879.11 UniProtKB/Swiss-Prot
  ENST00000397040 ENTREZGENE
  ENST00000397040.5 UniProtKB/Swiss-Prot
  ENST00000397042 ENTREZGENE
  ENST00000397042.7 UniProtKB/Swiss-Prot
  ENST00000438490 ENTREZGENE
  ENST00000438490.2 UniProtKB/TrEMBL
  ENST00000632792.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.11210 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000170471 GTEx
HGNC ID HGNC:29221 ENTREZGENE
Human Proteome Map RALGAPB Human Proteome Map
InterPro RALGAPB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rap/Ran-GAP_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rap_GAP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RGPA/RALGAPB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:57148 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 57148 ENTREZGENE
OMIM 618833 OMIM
PANTHER PTHR21344 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAL GTPASE-ACTIVATING PROTEIN SUBUNIT BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RALGAPB_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165392608 PharmGKB
PROSITE RAPGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF111347 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0J9YW54_HUMAN UniProtKB/TrEMBL
  A2A2E8 ENTREZGENE
  A2A2E9 ENTREZGENE
  A2A2F0 ENTREZGENE, UniProtKB/TrEMBL
  B3KWL5 ENTREZGENE, UniProtKB/TrEMBL
  G1UI28_HUMAN UniProtKB/TrEMBL
  Q5TG31 ENTREZGENE
  Q6MZJ2_HUMAN UniProtKB/TrEMBL
  Q86X10 ENTREZGENE
  Q8N3D1 ENTREZGENE
  Q8WWC0 ENTREZGENE
  Q9H3X8 ENTREZGENE
  Q9UJR1 ENTREZGENE
  Q9ULK1 ENTREZGENE
  Q9Y3G9 ENTREZGENE
  RLGPB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A2A2E8 UniProtKB/Swiss-Prot
  A2A2E9 UniProtKB/Swiss-Prot
  Q5TG31 UniProtKB/Swiss-Prot
  Q8N3D1 UniProtKB/Swiss-Prot
  Q8WWC0 UniProtKB/Swiss-Prot
  Q9H3X8 UniProtKB/Swiss-Prot
  Q9UJR1 UniProtKB/Swiss-Prot
  Q9ULK1 UniProtKB/Swiss-Prot
  Q9Y3G9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 RALGAPB  Ral GTPase activating protein non-catalytic subunit beta  RALGAPB  Ral GTPase activating protein non-catalytic beta subunit  Symbol and/or name change 5135510 APPROVED
2016-02-02 RALGAPB  Ral GTPase activating protein non-catalytic beta subunit    Ral GTPase activating protein, beta subunit (non-catalytic)  Symbol and/or name change 5135510 APPROVED
2011-07-27 RALGAPB  Ral GTPase activating protein, beta subunit (non-catalytic)  KIAA1219  KIAA1219  Symbol and/or name change 5135510 APPROVED