RAB11B (RAB11B, member RAS oncogene family) - Rat Genome Database

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Gene: RAB11B (RAB11B, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB11B
Name: RAB11B, member RAS oncogene family
RGD ID: 68529
HGNC Page HGNC
Description: Enables GTPase activity; guanyl ribonucleotide binding activity; and myosin V binding activity. Involved in several processes, including amyloid-beta clearance by transcytosis; cellular response to acidic pH; and constitutive secretory pathway. Located in phagocytic vesicle.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: GTP-binding protein YPT3; H-YPT3; MGC133246; NDAGSCW; RAB11B, member of RAS oncogene family; ras-related protein Rab-11B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl198,389,981 - 8,404,434 (+)EnsemblGRCh38hg38GRCh38
GRCh38198,390,360 - 8,404,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37198,455,244 - 8,469,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36198,361,296 - 8,374,479 (+)NCBINCBI36hg18NCBI36
Build 34198,361,295 - 8,374,479NCBI
Celera198,311,860 - 8,325,986 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef198,108,703 - 8,123,515 (+)NCBIHuRef
CHM1_1198,454,661 - 8,468,772 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7811277   PMID:8125298   PMID:10942597   PMID:11408590   PMID:11481332   PMID:11495908   PMID:12477932   PMID:14627637   PMID:15342556   PMID:15489334   PMID:15569681   PMID:16169070  
PMID:16473633   PMID:16545962   PMID:17255364   PMID:17507647   PMID:18022941   PMID:19060906   PMID:19244346   PMID:20000738   PMID:20360680   PMID:20458337   PMID:20622010   PMID:20686666  
PMID:20717956   PMID:20877624   PMID:21248079   PMID:21255211   PMID:21319273   PMID:21832049   PMID:21873635   PMID:21976701   PMID:22561749   PMID:22613832   PMID:22939629   PMID:23376485  
PMID:23383273   PMID:23533145   PMID:23572552   PMID:24006491   PMID:24056041   PMID:24141907   PMID:24332808   PMID:24589086   PMID:24711643   PMID:25070890   PMID:25468996   PMID:25556234  
PMID:26005850   PMID:26186194   PMID:26344197   PMID:26355680   PMID:26496610   PMID:26635365   PMID:26638075   PMID:26816005   PMID:27481517   PMID:28514442   PMID:29106825   PMID:29180619  
PMID:29509190   PMID:29845934   PMID:30194290   PMID:30575818   PMID:30639242   PMID:30659120   PMID:30661770   PMID:30981667   PMID:31536960   PMID:31586073   PMID:32296183   PMID:32513696  
PMID:32541798   PMID:32814053   PMID:32877691   PMID:33194618   PMID:33524390   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
RAB11B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl198,389,981 - 8,404,434 (+)EnsemblGRCh38hg38GRCh38
GRCh38198,390,360 - 8,404,434 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37198,455,244 - 8,469,318 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36198,361,296 - 8,374,479 (+)NCBINCBI36hg18NCBI36
Build 34198,361,295 - 8,374,479NCBI
Celera198,311,860 - 8,325,986 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef198,108,703 - 8,123,515 (+)NCBIHuRef
CHM1_1198,454,661 - 8,468,772 (+)NCBICHM1_1
Rab11b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391733,961,458 - 33,979,460 (-)NCBIGRCm39mm39
GRCm39 Ensembl1733,961,458 - 33,979,504 (-)Ensembl
GRCm381733,742,484 - 33,760,486 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1733,742,484 - 33,760,530 (-)EnsemblGRCm38mm10GRCm38
MGSCv371733,879,429 - 33,897,431 (-)NCBIGRCm37mm9NCBIm37
MGSCv361733,353,479 - 33,367,177 (-)NCBImm8
Celera1736,499,813 - 36,517,815 (-)NCBICelera
Cytogenetic Map17B1NCBI
cM Map1717.98NCBI
Rab11b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2714,521,448 - 14,534,589 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl714,521,368 - 14,534,593 (-)Ensembl
Rnor_6.0718,598,991 - 18,612,132 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl718,598,880 - 18,612,147 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0718,776,591 - 18,789,732 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4716,232,840 - 16,246,007 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1716,232,842 - 16,246,007 (-)NCBI
Celera713,420,039 - 13,433,194 (-)NCBICelera
Cytogenetic Map7q13NCBI
Rab11b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,008,769 - 1,017,315 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555631,008,267 - 1,017,315 (-)NCBIChiLan1.0ChiLan1.0
RAB11B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1198,526,294 - 8,540,147 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0197,676,095 - 7,690,177 (+)NCBIMhudiblu_PPA_v0panPan3
RAB11B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12052,955,949 - 52,966,279 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2052,956,529 - 52,965,383 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2052,757,255 - 52,768,977 (+)NCBI
ROS_Cfam_1.02053,484,088 - 53,495,852 (+)NCBI
ROS_Cfam_1.0 Ensembl2053,484,656 - 53,498,327 (+)Ensembl
UMICH_Zoey_3.12052,686,120 - 52,697,840 (+)NCBI
UNSW_CanFamBas_1.02053,131,752 - 53,143,468 (+)NCBI
UU_Cfam_GSD_1.02053,363,591 - 53,375,312 (+)NCBI
Rab11b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118212,624,348 - 212,636,058 (-)NCBI
SpeTri2.0NW_0049365885,198,659 - 5,210,430 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB11B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl270,884,457 - 70,896,175 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1270,884,457 - 70,896,169 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2271,251,151 - 71,262,863 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RAB11B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.167,743,130 - 7,757,237 (+)NCBIChlSab1.1chlSab2
ChlSab1.167,743,130 - 7,757,237 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl67,743,361 - 7,757,305 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607412,504,898 - 12,519,218 (-)NCBIVero_WHO_p1.0
Rab11b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248281,165,877 - 1,174,306 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
WI-15303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37198,469,066 - 8,469,172UniSTSGRCh37
Build 36198,375,066 - 8,375,172RGDNCBI36
Celera198,325,734 - 8,325,840RGD
Cytogenetic Map19p13.2UniSTS
GeneMap99-GB4 RH Map1951.69UniSTS
Whitehead-RH Map1938.9UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1780
Count of miRNA genes:731
Interacting mature miRNAs:857
Transcripts:ENST00000328024, ENST00000594216, ENST00000598706, ENST00000600719, ENST00000601897
Prediction methods: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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 4
Medium 2438 2980 1725 624 1937 465 4356 2190 3733 419 1454 1613 175 1 1204 2787 5 2
Low 1 11 1 14 1 7 1 2 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_004218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC136469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP367041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP396219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT019536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR536494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX787570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D38516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X79780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000328024   ⟹   ENSP00000333547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl198,390,360 - 8,404,434 (+)Ensembl
RefSeq Acc Id: ENST00000594216   ⟹   ENSP00000471148
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl198,390,393 - 8,402,924 (+)Ensembl
RefSeq Acc Id: ENST00000598706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl198,390,363 - 8,400,342 (+)Ensembl
RefSeq Acc Id: ENST00000600719   ⟹   ENSP00000473042
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl198,389,981 - 8,402,550 (+)Ensembl
RefSeq Acc Id: ENST00000601897   ⟹   ENSP00000472473
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl198,390,389 - 8,402,799 (+)Ensembl
RefSeq Acc Id: NM_004218   ⟹   NP_004209
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38198,390,360 - 8,404,434 (+)NCBI
GRCh37198,455,205 - 8,469,318 (+)ENTREZGENE
Build 36198,361,296 - 8,374,479 (+)NCBI Archive
HuRef198,108,703 - 8,123,515 (+)ENTREZGENE
CHM1_1198,454,661 - 8,468,772 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_004209   ⟸   NM_004218
- UniProtKB: Q15907 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000473042   ⟸   ENST00000600719
RefSeq Acc Id: ENSP00000472473   ⟸   ENST00000601897
RefSeq Acc Id: ENSP00000333547   ⟸   ENST00000328024
RefSeq Acc Id: ENSP00000471148   ⟸   ENST00000594216

Promoters
RGD ID:6852694
Promoter ID:EP74159
Type:initiation region
Name:HS_RAB11B
Description:RAB11B, member RAS oncogene family.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36198,360,766 - 8,360,826EPD
RGD ID:7238357
Promoter ID:EPDNEW_H24925
Type:preliminary
Name:RAB11B_2
Description:RAB11B, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38198,389,882 - 8,389,942EPDNEW
RGD ID:7238361
Promoter ID:EPDNEW_H24926
Type:initiation region
Name:RAB11B_1
Description:RAB11B, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24925  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38198,390,363 - 8,390,423EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) single nucleotide variant Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV000520305]|not provided [RCV001052890] Chr19:8400024 [GRCh38]
Chr19:8464908 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) single nucleotide variant Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV000523787] Chr19:8399886 [GRCh38]
Chr19:8464770 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
Single allele duplication Autistic disorder [RCV000754212] Chr19:7981357..10019383 [GRCh38]
Chr19:19p13.2
likely pathogenic
GRCh37/hg19 19p13.2(chr19:8454870-8455879)x1 copy number loss not provided [RCV000740029] Chr19:8454870..8455879 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.237-179G>C single nucleotide variant not provided [RCV001690621] Chr19:8401907 [GRCh38]
Chr19:8466791 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.511+92_511+105dup duplication not provided [RCV001707043] Chr19:8402654..8402655 [GRCh38]
Chr19:8467538..8467539 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.357C>A (p.Ile119=) single nucleotide variant not provided [RCV000947910] Chr19:8402206 [GRCh38]
Chr19:8467090 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.40+6G>T single nucleotide variant not provided [RCV000962610] Chr19:8390462 [GRCh38]
Chr19:8455346 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.552C>T (p.Arg184=) single nucleotide variant not provided [RCV001648038] Chr19:8403453 [GRCh38]
Chr19:8468337 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.237-178G>A single nucleotide variant not provided [RCV001690593] Chr19:8401908 [GRCh38]
Chr19:8466792 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.430+72T>C single nucleotide variant not provided [RCV001710149] Chr19:8402351 [GRCh38]
Chr19:8467235 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.258C>T (p.Gly86=) single nucleotide variant not provided [RCV000972949] Chr19:8402107 [GRCh38]
Chr19:8466991 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.512-146C>T single nucleotide variant not provided [RCV001661164] Chr19:8403267 [GRCh38]
Chr19:8468151 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.*43C>T single nucleotide variant not provided [RCV001661190] Chr19:8403601 [GRCh38]
Chr19:8468485 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.511+152T>C single nucleotide variant not provided [RCV001595628] Chr19:8402717 [GRCh38]
Chr19:8467601 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.511+125T>G single nucleotide variant not provided [RCV001656520] Chr19:8402690 [GRCh38]
Chr19:8467574 [GRCh37]
Chr19:19p13.2
benign
GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3 copy number gain not provided [RCV001007030] Chr19:7657490..8569762 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_004218.4(RAB11B):c.41-94G>A single nucleotide variant not provided [RCV001694272] Chr19:8399769 [GRCh38]
Chr19:8464653 [GRCh37]
Chr19:19p13.2
benign
NR_038237.1(RAB11B-AS1):n.578A>C single nucleotide variant not provided [RCV001692709] Chr19:8390114 [GRCh38]
Chr19:8454998 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.583G>A (p.Val195Met) single nucleotide variant Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter [RCV001329826] Chr19:8403484 [GRCh38]
Chr19:8468368 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_004218.4(RAB11B):c.12G>A (p.Arg4=) single nucleotide variant not provided [RCV001510437] Chr19:8390428 [GRCh38]
Chr19:8455312 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.237-7C>G single nucleotide variant not provided [RCV001449227] Chr19:8402079 [GRCh38]
Chr19:8466963 [GRCh37]
Chr19:19p13.2
likely benign
NM_004218.4(RAB11B):c.236+141G>A single nucleotide variant not provided [RCV001679278] Chr19:8400199 [GRCh38]
Chr19:8465083 [GRCh37]
Chr19:19p13.2
benign
NM_004218.4(RAB11B):c.430+6C>T single nucleotide variant not provided [RCV001477317] Chr19:8402285 [GRCh38]
Chr19:8467169 [GRCh37]
Chr19:19p13.2
likely benign
NM_004218.4(RAB11B):c.497A>C (p.Lys166Thr) single nucleotide variant not provided [RCV001727069] Chr19:8402551 [GRCh38]
Chr19:8467435 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_004218.4(RAB11B):c.562G>A (p.Asp188Asn) single nucleotide variant not provided [RCV001767212] Chr19:8403463 [GRCh38]
Chr19:8468347 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_004218.4(RAB11B):c.41-2A>G single nucleotide variant not provided [RCV001797227] Chr19:8399861 [GRCh38]
Chr19:8464745 [GRCh37]
Chr19:19p13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9761 AgrOrtholog
COSMIC RAB11B COSMIC
Ensembl Genes ENSG00000185236 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000333547 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000471148 UniProtKB/Swiss-Prot
  ENSP00000472473 UniProtKB/TrEMBL
  ENSP00000473042 UniProtKB/TrEMBL
Ensembl Transcript ENST00000328024 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000594216 UniProtKB/Swiss-Prot
  ENST00000600719 UniProtKB/TrEMBL
  ENST00000601897 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000185236 GTEx
HGNC ID HGNC:9761 ENTREZGENE
Human Proteome Map RAB11B Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9230 UniProtKB/Swiss-Prot
NCBI Gene 9230 ENTREZGENE
OMIM 604198 OMIM
  617807 OMIM
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34102 PharmGKB
PROSITE RAB UniProtKB/Swiss-Prot
  RAS UniProtKB/TrEMBL
SMART RHO UniProtKB/Swiss-Prot
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot
UniProt M0R2D0_HUMAN UniProtKB/TrEMBL
  M0R377_HUMAN UniProtKB/TrEMBL
  Q15907 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A5YM50 UniProtKB/Swiss-Prot
  B2R7I4 UniProtKB/Swiss-Prot
  B4DMK0 UniProtKB/Swiss-Prot
  D6W671 UniProtKB/Swiss-Prot
  Q2YDT2 UniProtKB/Swiss-Prot
  Q5U0I1 UniProtKB/Swiss-Prot
  Q6FHR0 UniProtKB/Swiss-Prot
  Q6FI42 UniProtKB/Swiss-Prot
  Q8NI07 UniProtKB/Swiss-Prot