RGL4 (ral guanine nucleotide dissociation stimulator like 4) - Rat Genome Database

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Gene: RGL4 (ral guanine nucleotide dissociation stimulator like 4) Homo sapiens
Analyze
Symbol: RGL4
Name: ral guanine nucleotide dissociation stimulator like 4
RGD ID: 1606411
HGNC Page HGNC:31911
Description: Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytoplasmic vesicle. Predicted to be active in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: hRGR; MGC119678; MGC119680; ral guanine nucleotide dissociation stimulator-like 4; Ral-GDS related protein Rgr; ral-GDS-related protein; RalGDS related oncogene; ralGDS-like 4; Rgr
RGD Orthologs
Bonobo
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RGL4P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382223,691,013 - 23,699,168 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2223,688,136 - 23,699,176 (+)EnsemblGRCh38hg38GRCh38
GRCh372224,033,200 - 24,041,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,363,048 - 22,371,363 (+)NCBINCBI36Build 36hg18NCBI36
Celera227,872,144 - 7,880,459 (+)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,020,383 - 7,028,704 (+)NCBIHuRef
CHM1_12224,045,331 - 24,053,643 (+)NCBICHM1_1
T2T-CHM13v2.02224,138,214 - 24,146,366 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
Seizure  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9154803   PMID:9178890   PMID:10591208   PMID:10851075   PMID:12140761   PMID:12477932   PMID:12874025   PMID:21873635   PMID:26186194   PMID:28514442   PMID:29676528   PMID:31615875  
PMID:32259700   PMID:32694731   PMID:33961781  


Genomics

Comparative Map Data
RGL4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382223,691,013 - 23,699,168 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2223,688,136 - 23,699,176 (+)EnsemblGRCh38hg38GRCh38
GRCh372224,033,200 - 24,041,355 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362222,363,048 - 22,371,363 (+)NCBINCBI36Build 36hg18NCBI36
Celera227,872,144 - 7,880,459 (+)NCBICelera
Cytogenetic Map22q11.23NCBI
HuRef227,020,383 - 7,028,704 (+)NCBIHuRef
CHM1_12224,045,331 - 24,053,643 (+)NCBICHM1_1
T2T-CHM13v2.02224,138,214 - 24,146,366 (+)NCBIT2T-CHM13v2.0
RGL4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22333,419,104 - 33,432,118 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12236,155,487 - 36,167,819 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0224,453,352 - 4,455,451 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3

Variants

.
Variants in RGL4
32 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 22q11.23(chr22:23720171-25065576) copy number gain Cerebellar ataxia [RCV000626496] Chr22:23720171..25065576 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3 copy number gain See cases [RCV000050768] Chr22:18178957..31821193 [GRCh38]
Chr22:18661724..32217179 [GRCh37]
Chr22:17041724..30547179 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000050739] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24197852)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053084]|See cases [RCV000053084] Chr22:21454661..24197852 [GRCh38]
Chr22:21808950..24593820 [GRCh37]
Chr22:20138950..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21457690-24220231)x1 copy number loss See cases [RCV000053087] Chr22:21457690..24220231 [GRCh38]
Chr22:21811979..24616199 [GRCh37]
Chr22:20141979..22946199 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.23(chr22:23338443-24610403)x3 copy number gain See cases [RCV000053174] Chr22:23338443..24610403 [GRCh38]
Chr22:23680630..25006370 [GRCh37]
Chr22:22010630..23336370 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23338443-24577664)x3 copy number gain See cases [RCV000053175] Chr22:23338443..24577664 [GRCh38]
Chr22:23680630..24973632 [GRCh37]
Chr22:22010630..23303632 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23354221-24541945)x3 copy number gain See cases [RCV000053176] Chr22:23354221..24541945 [GRCh38]
Chr22:23696408..24937913 [GRCh37]
Chr22:22026408..23267913 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23369950-24669609)x3 copy number gain See cases [RCV000053177] Chr22:23369950..24669609 [GRCh38]
Chr22:23712137..25065576 [GRCh37]
Chr22:22042137..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23377784-24564000)x3 copy number gain See cases [RCV000053178] Chr22:23377784..24564000 [GRCh38]
Chr22:23719971..24959968 [GRCh37]
Chr22:22049971..23289968 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21562911-24307688)x1 copy number loss See cases [RCV000053090] Chr22:21562911..24307688 [GRCh38]
Chr22:21917200..24703656 [GRCh37]
Chr22:20247200..23033656 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000053179] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23		 conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 22q11.23(chr22:23377984-24669609)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053181]|See cases [RCV000053181] Chr22:23377984..24669609 [GRCh38]
Chr22:23720171..25065576 [GRCh37]
Chr22:22050171..23395576 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23414627-24563859)x3 copy number gain See cases [RCV000053182] Chr22:23414627..24563859 [GRCh38]
Chr22:23756814..24959827 [GRCh37]
Chr22:22086814..23289827 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.1-11.23(chr22:16916608-24358936)x3 copy number gain See cases [RCV000053104] Chr22:16916608..24358936 [GRCh38]
Chr22:17397498..24754904 [GRCh37]
Chr22:15777498..23084904 [NCBI36]
Chr22:22q11.1-11.23		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22686122-24577664)x3 copy number gain See cases [RCV000053161] Chr22:22686122..24577664 [GRCh38]
Chr22:23028586..24973632 [GRCh37]
Chr22:21358586..23303632 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22703701-24669609)x3 copy number gain See cases [RCV000053163] Chr22:22703701..24669609 [GRCh38]
Chr22:23046186..25065576 [GRCh37]
Chr22:21376186..23395576 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23285152-24723136)x3 copy number gain See cases [RCV000053164] Chr22:23285152..24723136 [GRCh38]
Chr22:23627339..25119103 [GRCh37]
Chr22:21957339..23449103 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21443815-24235645)x1 copy number loss See cases [RCV000053074] Chr22:21443815..24235645 [GRCh38]
Chr22:21798104..24631613 [GRCh37]
Chr22:20128104..22961613 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454461-24247296)x1 copy number loss See cases [RCV000053077] Chr22:21454461..24247296 [GRCh38]
Chr22:21808750..24643264 [GRCh37]
Chr22:20138750..22973264 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24289119)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053079]|See cases [RCV000053079] Chr22:21454661..24289119 [GRCh38]
Chr22:21808950..24685087 [GRCh37]
Chr22:20138950..23015087 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22669599-24670517)x3 copy number gain See cases [RCV000136060] Chr22:22669599..24670517 [GRCh38]
Chr22:23012069..25066484 [GRCh37]
Chr22:21342069..23396484 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:20726972-24197852)x1 copy number loss See cases [RCV000136889] Chr22:20726972..24197852 [GRCh38]
Chr22:21081260..24593820 [GRCh37]
Chr22:19411260..22923820 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.21-11.23(chr22:21454661-24247140)x1 copy number loss See cases [RCV000137685] Chr22:21454661..24247140 [GRCh38]
Chr22:21808950..24643108 [GRCh37]
Chr22:20138950..22973108 [NCBI36]
Chr22:22q11.21-11.23		 pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24644628)x3 copy number gain See cases [RCV000137701] Chr22:23311976..24644628 [GRCh38]
Chr22:23654163..25040595 [GRCh37]
Chr22:21984163..23370595 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24644628)x3 copy number gain See cases [RCV000137410] Chr22:22660239..24644628 [GRCh38]
Chr22:23002709..25040595 [GRCh37]
Chr22:21332709..23370595 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.23(chr22:23311976-24600238)x3 copy number gain See cases [RCV000137995] Chr22:23311976..24600238 [GRCh38]
Chr22:23654163..24996205 [GRCh37]
Chr22:21984163..23326205 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24600238)x3 copy number gain See cases [RCV000137795] Chr22:22660239..24600238 [GRCh38]
Chr22:23002709..24996205 [GRCh37]
Chr22:21332709..23326205 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.21-11.23(chr22:21207181-24247140)x3 copy number gain See cases [RCV000138673] Chr22:21207181..24247140 [GRCh38]
Chr22:21561470..24643108 [GRCh37]
Chr22:19891470..22973108 [NCBI36]
Chr22:22q11.21-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22660239-24596054)x3 copy number gain See cases [RCV000138249] Chr22:22660239..24596054 [GRCh38]
Chr22:23002709..24992021 [GRCh37]
Chr22:21332709..23322021 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23311976-24669609)x3 copy number gain See cases [RCV000139440] Chr22:23311976..24669609 [GRCh38]
Chr22:23654163..25065576 [GRCh37]
Chr22:21984163..23395576 [NCBI36]
Chr22:22q11.23		 likely benign|uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24663664)x3 copy number gain See cases [RCV000141936] Chr22:22655333..24663664 [GRCh38]
Chr22:22997803..25059631 [GRCh37]
Chr22:21327803..23389631 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23308686-24647020)x3 copy number gain See cases [RCV000141802] Chr22:23308686..24647020 [GRCh38]
Chr22:23650873..25042987 [GRCh37]
Chr22:21980873..23372987 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24630890)x3 copy number gain See cases [RCV000142221] Chr22:22655333..24630890 [GRCh38]
Chr22:22997803..25026857 [GRCh37]
Chr22:21327803..23356857 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22655333-24647020)x3 copy number gain See cases [RCV000143750] Chr22:22655333..24647020 [GRCh38]
Chr22:22997803..25042987 [GRCh37]
Chr22:21327803..23372987 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22669543-24563859)x3 copy number gain See cases [RCV000148079] Chr22:22669543..24563859 [GRCh38]
Chr22:23012013..24959827 [GRCh37]
Chr22:21342013..23289827 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23348201-24647020)x3 copy number gain See cases [RCV000143627] Chr22:23348201..24647020 [GRCh38]
Chr22:23690388..25042987 [GRCh37]
Chr22:22020388..23372987 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh38/hg38 22q11.22-11.23(chr22:22920775-24606692)x3 copy number gain See cases [RCV000143543] Chr22:22920775..24606692 [GRCh38]
Chr22:23262947..25002659 [GRCh37]
Chr22:21592947..23332659 [NCBI36]
Chr22:22q11.22-11.23		 uncertain significance
GRCh38/hg38 22q11.23(chr22:23310399-24643051)x3 copy number gain See cases [RCV000143562] Chr22:23310399..24643051 [GRCh38]
Chr22:23652586..25039018 [GRCh37]
Chr22:21982586..23369018 [NCBI36]
Chr22:22q11.23		 likely benign|uncertain significance
GRCh38/hg38 22q11.23(chr22:23377984-24563859)x3 copy number gain See cases [RCV000148169] Chr22:23377984..24563859 [GRCh38]
Chr22:23720171..24959827 [GRCh37]
Chr22:22050171..23289827 [NCBI36]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23891773-24991691)x3 copy number gain See cases [RCV000203419] Chr22:23891773..24991691 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046803)x3 copy number gain See cases [RCV000239808] Chr22:23258229..25046803 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.21-12.1(chr22:18738296-25914592)x1 copy number loss Premature ovarian failure [RCV000225330] Chr22:18738296..25914592 [GRCh37]
Chr22:22q11.21-12.1		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22976696-25053311)x3 copy number gain See cases [RCV000239999] Chr22:22976696..25053311 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23950632-24276233)x4 copy number gain See cases [RCV000240514] Chr22:23950632..24276233 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22988879-24276233)x3 copy number gain See cases [RCV000240234] Chr22:22988879..24276233 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16054691-27296513)x3 copy number gain See cases [RCV000240348] Chr22:16054691..27296513 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258938-25002659)x3 copy number gain See cases [RCV000446585] Chr22:23258938..25002659 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25002659)x3 copy number gain See cases [RCV000445706] Chr22:22997802..25002659 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258229-25046758)x3 copy number gain See cases [RCV000445819] Chr22:23258229..25046758 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804562-24659578)x3 copy number gain See cases [RCV000445928] Chr22:21804562..24659578 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25042987)x3 copy number gain See cases [RCV000448006] Chr22:23652517..25042987 [GRCh37]
Chr22:22q11.23		 uncertain significance
NC_000022.10:g.(?_23667751)_(25041986_?)dup duplication Schizophrenia [RCV000416698] Chr22:23667751..25041986 [GRCh37]
Chr22:21997751..23371986 [NCBI36]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NC_000022.10:g.(?_22971580)_(25041986_?)dup duplication Schizophrenia [RCV000416783] Chr22:22971580..25041986 [GRCh37]
Chr22:21301580..23371986 [NCBI36]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:23739611-24544632)x4 copy number gain See cases [RCV000448428] Chr22:23739611..24544632 [GRCh37]
Chr22:22q11.23		 pathogenic
NC_000022.10:g.(?_23667751)_(24991609_?)dup duplication Schizophrenia [RCV000416915] Chr22:23667751..24991609 [GRCh37]
Chr22:21997751..23321609 [NCBI36]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21798907-24963935)x3 copy number gain See cases [RCV000510487] Chr22:21798907..24963935 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25039018)x3 copy number gain See cases [RCV000511883] Chr22:23690387..25039018 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22997802-25033630)x3 copy number gain See cases [RCV000511378] Chr22:22997802..25033630 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-25066472)x3 copy number gain See cases [RCV000511837] Chr22:23690387..25066472 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690387-24666092)x1 copy number loss See cases [RCV000511065] Chr22:23690387..24666092 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_153615.2(RGL4):c.560T>C (p.Val187Ala) single nucleotide variant not specified [RCV004292743] Chr22:23692855 [GRCh38]
Chr22:24035042 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23653979-25066472)x3 copy number gain See cases [RCV000512168] Chr22:23653979..25066472 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23652549-25042987)x3 copy number gain See cases [RCV000512454] Chr22:23652549..25042987 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22951048-25156289)x3 copy number gain not provided [RCV000684506] Chr22:22951048..25156289 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24653491)x1 copy number loss not provided [RCV000684518] Chr22:21465661..24653491 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24885806)x1 copy number loss not provided [RCV000684520] Chr22:21465661..24885806 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25002659)x3 copy number gain not provided [RCV000684494] Chr22:23650871..25002659 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22945889-25059631)x3 copy number gain not provided [RCV000684504] Chr22:22945889..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely pathogenic
Single allele duplication Schizophrenia [RCV000754256] Chr22:22624794..24654160 [GRCh38]
Chr22:22q11.22-11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754258] Chr22:23317839..24597843 [GRCh38]
Chr22:22q11.23		 likely pathogenic
Single allele duplication Schizophrenia [RCV000754259] Chr22:23317839..24654160 [GRCh38]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3 copy number gain 22q11.2 distal duplication syndrome [RCV000788073] Chr22:23652517..25002659 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23653987-25158391) copy number gain not provided [RCV000767635] Chr22:23653987..25158391 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22998284-25119103)x3 copy number gain Global developmental delay [RCV000787284] Chr22:22998284..25119103 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25145601)x3 copy number gain not provided [RCV000845609] Chr22:22962196..25145601 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650200-25066472)x3 copy number gain not provided [RCV000849234] Chr22:23650200..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV001007176] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650871-25066472)x3 copy number gain not provided [RCV000845636] Chr22:23650871..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23698818-25042987)x3 copy number gain not provided [RCV000849671] Chr22:23698818..25042987 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22962196-25059631)x3 copy number gain not provided [RCV000847639] Chr22:22962196..25059631 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
NM_153615.2(RGL4):c.869G>A (p.Arg290Gln) single nucleotide variant not specified [RCV004288776] Chr22:23693931 [GRCh38]
Chr22:24036118 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:22962195-25002659)x3 copy number gain not provided [RCV000846628] Chr22:22962195..25002659 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
NM_153615.2(RGL4):c.587C>T (p.Ser196Phe) single nucleotide variant not specified [RCV004320958] Chr22:23692882 [GRCh38]
Chr22:24035069 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23650872-25002483)x3 copy number gain not provided [RCV002473884] Chr22:23650872..25002483 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-26483608)x3 copy number gain Cat eye syndrome [RCV001263219] Chr22:16888899..26483608 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953514-25002483)x3 copy number gain not provided [RCV001007174] Chr22:22953514..25002483 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic|likely pathogenic
GRCh37/hg19 22q11.1-12.1(chr22:16888899-27657507)x3 copy number gain not provided [RCV001007163] Chr22:16888899..27657507 [GRCh37]
Chr22:22q11.1-12.1		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:20732808-25193541)x3 copy number gain not provided [RCV001007169] Chr22:20732808..25193541 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:23258368-25059827)x3 copy number gain not provided [RCV001258774] Chr22:23258368..25059827 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.23(chr22:23650873-25043046)x3 copy number gain not provided [RCV001258776] Chr22:23650873..25043046 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3 copy number gain See cases [RCV001263027] Chr22:23720181..25066484 [GRCh37]
Chr22:22q11.23		 uncertain significance
Single allele duplication Epilepsy [RCV001293375] Chr22:23699269..24992266 [GRCh37]
Chr22:22q11.23		 pathogenic
NC_000022.10:g.(?_23915453)_(24921762_?)dup duplication not provided [RCV003120543] Chr22:23915453..24921762 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.22-11.23(chr22:23166334-24237343)x3 copy number gain Generalized-onset seizure [RCV001801186] Chr22:23166334..24237343 [GRCh37]
Chr22:22q11.22-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23689960-25000632)x3 copy number gain not provided [RCV001795844] Chr22:23689960..25000632 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21465661-24631791)x3 copy number gain not provided [RCV001836553] Chr22:21465661..24631791 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NC_000022.10:g.(?_23915453)_(24237293_?)del deletion Agammaglobulinemia 2, autosomal recessive [RCV001941512] Chr22:23915453..24237293 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23652519-25059631)x3 copy number gain Unilateral renal agenesis [RCV002282735] Chr22:23652519..25059631 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.21-11.23(chr22:21798906-25039018) copy number gain Chromosome 22q11.2 microduplication syndrome [RCV002280733] Chr22:21798906..25039018 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22997929-24995256)x3 copy number gain not provided [RCV002473547] Chr22:22997929..24995256 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22953515-24995256)x3 copy number gain not provided [RCV002474578] Chr22:22953515..24995256 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.23(chr22:23650201-24992266)x3 copy number gain not provided [RCV002472515] Chr22:23650201..24992266 [GRCh37]
Chr22:22q11.23		 likely pathogenic
GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119) copy number loss Schwannomatosis 1 [RCV003236733] Chr22:22893189..24177119 [GRCh37]
Chr22:22q11.22-11.23		 pathogenic
NM_153615.2(RGL4):c.1324C>T (p.Pro442Ser) single nucleotide variant not specified [RCV004134109] Chr22:23698275 [GRCh38]
Chr22:24040462 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1128G>C (p.Gln376His) single nucleotide variant not specified [RCV004210576] Chr22:23696655 [GRCh38]
Chr22:24038842 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1148G>A (p.Arg383Gln) single nucleotide variant not specified [RCV004083986] Chr22:23696675 [GRCh38]
Chr22:24038862 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1070G>C (p.Arg357Thr) single nucleotide variant not specified [RCV004095126] Chr22:23695003 [GRCh38]
Chr22:24037190 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.769G>A (p.Glu257Lys) single nucleotide variant not specified [RCV004192910] Chr22:23693831 [GRCh38]
Chr22:24036018 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.176T>C (p.Leu59Ser) single nucleotide variant not specified [RCV004213343] Chr22:23692206 [GRCh38]
Chr22:24034393 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.487G>C (p.Gly163Arg) single nucleotide variant not specified [RCV004132894] Chr22:23692782 [GRCh38]
Chr22:24034969 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.695C>T (p.Ala232Val) single nucleotide variant not specified [RCV004205436] Chr22:23692990 [GRCh38]
Chr22:24035177 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1049A>G (p.Lys350Arg) single nucleotide variant not specified [RCV004108672] Chr22:23694982 [GRCh38]
Chr22:24037169 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1030G>C (p.Glu344Gln) single nucleotide variant not specified [RCV004075286] Chr22:23694963 [GRCh38]
Chr22:24037150 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1058C>T (p.Thr353Ile) single nucleotide variant not specified [RCV004075287] Chr22:23694991 [GRCh38]
Chr22:24037178 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1337T>C (p.Phe446Ser) single nucleotide variant not specified [RCV004075288] Chr22:23698288 [GRCh38]
Chr22:24040475 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.136T>C (p.Tyr46His) single nucleotide variant not specified [RCV004075289] Chr22:23692166 [GRCh38]
Chr22:24034353 [GRCh37]
Chr22:22q11.23		 likely benign
NM_153615.2(RGL4):c.751G>C (p.Gly251Arg) single nucleotide variant not specified [RCV004075290] Chr22:23693813 [GRCh38]
Chr22:24036000 [GRCh37]
Chr22:22q11.23		 likely benign
NM_153615.2(RGL4):c.1052A>C (p.Lys351Thr) single nucleotide variant not specified [RCV004261909] Chr22:23694985 [GRCh38]
Chr22:24037172 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1244C>A (p.Thr415Asn) single nucleotide variant not specified [RCV004260804] Chr22:23697845 [GRCh38]
Chr22:24040032 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23658260-25114888)x3 copy number gain Chromosome 22q11.2 microduplication syndrome [RCV003329499] Chr22:23658260..25114888 [GRCh37]
Chr22:22q11.23		 pathogenic
NM_153615.2(RGL4):c.1406A>G (p.Glu469Gly) single nucleotide variant not specified [RCV004348404] Chr22:23698867 [GRCh38]
Chr22:24041054 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.908C>T (p.Ala303Val) single nucleotide variant not specified [RCV004343377] Chr22:23693970 [GRCh38]
Chr22:24036157 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23690388-25066472)x3 copy number gain not provided [RCV003485241] Chr22:23690388..25066472 [GRCh37]
Chr22:22q11.23		 pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21916217-24060551)x1 copy number loss not provided [RCV003483391] Chr22:21916217..24060551 [GRCh37]
Chr22:22q11.21-11.23		 pathogenic
NM_153615.2(RGL4):c.1125C>G (p.Pro375=) single nucleotide variant not provided [RCV003431680] Chr22:23696652 [GRCh38]
Chr22:24038839 [GRCh37]
Chr22:22q11.23		 likely benign
GRCh37/hg19 22q11.22-11.23(chr22:22989453-25019883)x3 copy number gain not provided [RCV003457365] Chr22:22989453..25019883 [GRCh37]
Chr22:22q11.22-11.23		 likely pathogenic
GRCh37/hg19 22q11.21-11.23(chr22:21804597-24629406)x3 copy number gain not provided [RCV004442791] Chr22:21804597..24629406 [GRCh37]
Chr22:22q11.21-11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23702548-25008068)x3 copy number gain not provided [RCV004442850] Chr22:23702548..25008068 [GRCh37]
Chr22:22q11.23		 uncertain significance
GRCh37/hg19 22q11.23(chr22:23652549-25002659)x3 copy number gain See cases [RCV004442788] Chr22:23652549..25002659 [GRCh37]
Chr22:22q11.23		 pathogenic
NM_153615.2(RGL4):c.1172C>T (p.Pro391Leu) single nucleotide variant not specified [RCV004448890] Chr22:23697181 [GRCh38]
Chr22:24039368 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.845T>C (p.Leu282Pro) single nucleotide variant not specified [RCV004448897] Chr22:23693907 [GRCh38]
Chr22:24036094 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.1027A>G (p.Lys343Glu) single nucleotide variant not specified [RCV004448889] Chr22:23694960 [GRCh38]
Chr22:24037147 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.178C>T (p.Arg60Cys) single nucleotide variant not specified [RCV004448891] Chr22:23692208 [GRCh38]
Chr22:24034395 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.400G>A (p.Ala134Thr) single nucleotide variant not specified [RCV004448894] Chr22:23692695 [GRCh38]
Chr22:24034882 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.915G>C (p.Glu305Asp) single nucleotide variant not specified [RCV004448898] Chr22:23694349 [GRCh38]
Chr22:24036536 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.533C>T (p.Pro178Leu) single nucleotide variant not specified [RCV004448895] Chr22:23692828 [GRCh38]
Chr22:24035015 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.713T>C (p.Val238Ala) single nucleotide variant not specified [RCV004448896] Chr22:23693775 [GRCh38]
Chr22:24035962 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.248G>A (p.Arg83Gln) single nucleotide variant not specified [RCV004448892] Chr22:23692403 [GRCh38]
Chr22:24034590 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.259C>T (p.Arg87Trp) single nucleotide variant not specified [RCV004448893] Chr22:23692414 [GRCh38]
Chr22:24034601 [GRCh37]
Chr22:22q11.23		 likely benign
NM_153615.2(RGL4):c.998C>T (p.Thr333Met) single nucleotide variant not specified [RCV004658383] Chr22:23694432 [GRCh38]
Chr22:24036619 [GRCh37]
Chr22:22q11.23		 uncertain significance
NM_153615.2(RGL4):c.336G>C (p.Gln112His) single nucleotide variant not specified [RCV004658384] Chr22:23692491 [GRCh38]
Chr22:24034678 [GRCh37]
Chr22:22q11.23		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1867
Count of miRNA genes:603
Interacting mature miRNAs:665
Transcripts:ENST00000290691, ENST00000401461, ENST00000423392, ENST00000441897, ENST00000452208, ENST00000460003, ENST00000460167, ENST00000467354
Prediction methods:Microtar, Miranda, Rnahybrid
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
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human

Markers in Region
AF021122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,037,485 - 24,037,748UniSTSGRCh37
Build 362222,367,485 - 22,367,748RGDNCBI36
Celera227,876,581 - 7,876,844RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,024,820 - 7,025,089UniSTS
D20S608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372224,037,551 - 24,037,745UniSTSGRCh37
Build 362222,367,551 - 22,367,745RGDNCBI36
Celera227,876,647 - 7,876,841RGD
Cytogenetic Map22q11.23UniSTS
HuRef227,024,886 - 7,025,086UniSTS
Marshfield Genetic Map2218.1UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2412 2788 2244 4921 1714 2292 4 619 1938 460 2260 7224 6435 36 3694 823 1709 1565 170

Sequence


Ensembl Acc Id: ENST00000290691   ⟹   ENSP00000290691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,691,013 - 23,699,168 (+)Ensembl
Ensembl Acc Id: ENST00000401461   ⟹   ENSP00000383951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,688,142 - 23,699,176 (+)Ensembl
Ensembl Acc Id: ENST00000423392   ⟹   ENSP00000402142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,691,306 - 23,698,978 (+)Ensembl
Ensembl Acc Id: ENST00000441897   ⟹   ENSP00000396252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,688,136 - 23,699,176 (+)Ensembl
Ensembl Acc Id: ENST00000452208   ⟹   ENSP00000393115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,696,484 - 23,699,176 (+)Ensembl
Ensembl Acc Id: ENST00000460003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,691,306 - 23,698,978 (+)Ensembl
Ensembl Acc Id: ENST00000460167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,698,070 - 23,698,544 (+)Ensembl
Ensembl Acc Id: ENST00000467354
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,691,306 - 23,699,176 (+)Ensembl
Ensembl Acc Id: ENST00000612432   ⟹   ENSP00000484573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,690,861 - 23,698,651 (+)Ensembl
Ensembl Acc Id: ENST00000615003   ⟹   ENSP00000480308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2223,690,861 - 23,699,171 (+)Ensembl
RefSeq Acc Id: NM_001329424   ⟹   NP_001316353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,691,013 - 23,699,168 (+)NCBI
T2T-CHM13v2.02224,138,214 - 24,146,366 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329425   ⟹   NP_001316354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,696,416 - 23,699,168 (+)NCBI
T2T-CHM13v2.02224,143,614 - 24,146,366 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153615   ⟹   NP_705843
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382223,691,013 - 23,699,168 (+)NCBI
GRCh372224,033,048 - 24,041,444 (+)NCBI
Build 362222,363,048 - 22,371,363 (+)NCBI Archive
Celera227,872,144 - 7,880,459 (+)RGD
HuRef227,020,383 - 7,028,704 (+)RGD
CHM1_12224,045,331 - 24,053,643 (+)NCBI
T2T-CHM13v2.02224,138,214 - 24,146,366 (+)NCBI
Sequence:
RefSeq Acc Id: NP_705843   ⟸   NM_153615
- Peptide Label: isoform 2
- UniProtKB: Q495L8 (UniProtKB/Swiss-Prot),   Q8IZJ4 (UniProtKB/Swiss-Prot),   E7EPT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316353   ⟸   NM_001329424
- Peptide Label: isoform 1
- UniProtKB: E7EPT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316354   ⟸   NM_001329425
- Peptide Label: isoform 3
- UniProtKB: Q8IZJ4 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000402142   ⟸   ENST00000423392
Ensembl Acc Id: ENSP00000393115   ⟸   ENST00000452208
Ensembl Acc Id: ENSP00000383951   ⟸   ENST00000401461
Ensembl Acc Id: ENSP00000484573   ⟸   ENST00000612432
Ensembl Acc Id: ENSP00000396252   ⟸   ENST00000441897
Ensembl Acc Id: ENSP00000480308   ⟸   ENST00000615003
Ensembl Acc Id: ENSP00000290691   ⟸   ENST00000290691
Protein Domains
Ras-GEF

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8IZJ4-F1-model_v2 AlphaFold Q8IZJ4 1-473 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31911 AgrOrtholog
COSMIC RGL4 COSMIC
Ensembl Genes ENSG00000159496 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000290691 ENTREZGENE
  ENST00000290691.10 UniProtKB/Swiss-Prot
  ENST00000401461.5 UniProtKB/TrEMBL
  ENST00000423392 ENTREZGENE
  ENST00000423392.5 UniProtKB/TrEMBL
  ENST00000441897.5 UniProtKB/TrEMBL
  ENST00000452208.1 UniProtKB/TrEMBL
  ENST00000612432.4 UniProtKB/TrEMBL
  ENST00000615003.4 UniProtKB/TrEMBL
Gene3D-CATH 1.10.840.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000159496 GTEx
HGNC ID HGNC:31911 ENTREZGENE
Human Proteome Map RGL4 Human Proteome Map
InterPro Ras-like_GEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ras_GEF_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RASGEF_cat_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RASGEF_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:266747 UniProtKB/Swiss-Prot
NCBI Gene 266747 ENTREZGENE
OMIM 612214 OMIM
PANTHER PTHR23113 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAL-GDS-RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RasGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162401277 PharmGKB
PROSITE RASGEF_CAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RasGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48366 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WWL2_HUMAN UniProtKB/TrEMBL
  A0A087X1Z6_HUMAN UniProtKB/TrEMBL
  B5MCW5_HUMAN UniProtKB/TrEMBL
  E7EPT8 ENTREZGENE, UniProtKB/TrEMBL
  E9PH21_HUMAN UniProtKB/TrEMBL
  H7C063_HUMAN UniProtKB/TrEMBL
  Q3ZCN2_HUMAN UniProtKB/TrEMBL
  Q495L7_HUMAN UniProtKB/TrEMBL
  Q495L8 ENTREZGENE
  Q8IZJ4 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q495L8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-21 RGL4  ral guanine nucleotide dissociation stimulator like 4    ral guanine nucleotide dissociation stimulator-like 4  Symbol and/or name change 5135510 APPROVED