ENSG00000155961


Homo sapiens

Features
Gene ID: ENSG00000155961
  
Biological name :RAB39B
  
Synonyms : Q96DA2 / RAB39B / RAB39B, member RAS oncogene family
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: q28
Gene start: 155258241
Gene end: 155264589
  
Corresponding Affymetrix probe sets: 230075_at (Human Genome U133 Plus 2.0 Array)   238695_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000358466
NCBI entrez gene - 116442     See in Manteia.
OMIM - 300774
RefSeq - NM_171998
RefSeq Peptide - NP_741995
swissprot - Q96DA2
Ensembl - ENSG00000155961
  
Related genetic diseases (OMIM): 300271 - Mental retardation, X-linked 72, 300271
  311510 - ?Waisman syndrome, 311510
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 rab39baENSDARG00000019312Danio rerio
 rab39bbENSDARG00000036501Danio rerio
 RAB39BENSGALG00000040784Gallus gallus
 Q8BHC1ENSMUSG00000031202Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q14964 / RAB39A / RAB39A, member RAS oncogene familyENSG0000017933178
RAB2A / P61019 / RAB2A, member RAS oncogene familyENSG0000010438842
RAB2B / Q8WUD1 / RAB2B, member RAS oncogene familyENSG0000012947242
P62491 / RAB11A / RAB11A, member RAS oncogene familyENSG0000010376941
RAB4B-EGLN2 / RAB4B-EGLN2 readthrough (NMD candidate)ENSG0000017157040
RAB4B / P61018 / RAB4B, member RAS oncogene familyENSG0000016757840
Q15907 / RAB11B / RAB11B, member RAS oncogene familyENSG0000018523639
RAB4A / P20338 / RAB4A, member RAS oncogene familyENSG0000016811838
RAB14 / P61106 / RAB14, member RAS oncogene familyENSG0000011939637
RAB25 / P57735 / RAB25, member RAS oncogene familyENSG0000013269837
RAB18 / Q9NP72 / RAB18, member RAS oncogene familyENSG0000009924634
RAB42 / Q8N4Z0 / RAB42, member RAS oncogene familyENSG0000018806018


Protein motifs (from Interpro)
Interpro ID Name
 IPR001806  Small GTPase superfamily
 IPR005225  Small GTP-binding protein domain
 IPR027417  P-loop containing nucleoside triphosphate hydrolase


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006914 autophagy IEA
 biological_processGO:0010506 regulation of autophagy IMP
 biological_processGO:0015031 protein transport IEA
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0050808 synapse organization IEA
 cellular_componentGO:0005622 intracellular IDA
 cellular_componentGO:0005794 Golgi apparatus IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031982 vesicle IDA
 cellular_componentGO:0043005 neuron projection IDA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003924 GTPase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005525 GTP binding IEA
 molecular_functionGO:0031489 myosin V binding IPI


Pathways (from Reactome)
Pathway description
RAB geranylgeranylation
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000256 Macrocephaly "The presence of an abnormally large `skull` (FMA:46565)." [HPO:probinson]
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 HP:0000486 Strabismus "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002167 Neurological speech impairment 
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 HP:0002396 Cogwheel rigidity 
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 HP:0100022 Abnormality of movement "An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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