Seroatlas · Human Serome Atlas

RAB39B

Ras-related protein Rab-39B

Also known as: MRX72, RB39B_HUMAN, WSN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96DA2
Gene: RAB39B
Ensembl: ENSG00000155961
Chromosome: X
Canonical length: 213 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI Gene

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. Mutations in this gene are associated with X-linked cognitive disability. [provided by RefSeq, Aug 2013]

Canonical amino-acid sequenceUniProt

213 residues, UniProt reviewed canonical sequence.

>Q96DA2|RAB39B
     1  MEAIWLYQFR LIVIGDSTVG KSCLIRRFTE GRFAQVSDPT VGVDFFSRLV EIEPGKRIKL
    61  QIWDTAGQER FRSITRAYYR NSVGGLLLFD ITNRRSFQNV HEWLEETKVH VQPYQIVFVL
   121  VGHKCDLDTQ RQVTRHEAEK LAAAYGMKYI ETSARDAINV EKAFTDLTRD IYELVKRGEI
   181  TIQEGWEGVK SGFVPNVVHS SEEVVKSERR CLC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RAB39B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 11 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 11 nTPM
cerebellum: 10 nTPM
retina: 9.2 nTPM
hypothalamus: 8 nTPM
hippocampal formation: 7.5 nTPM
spinal cord: 7.4 nTPM

Single-cell type

pancreatic islet cells: 19 nCPM
plasma cells: 14 nCPM
epididymal principal cells: 13 nCPM
corticotrophs: 13 nCPM
t-cells: 11 nCPM
other brain neurons: 11 nCPM

Immune cell

naive CD8 T-cell: 6.9 nTPM
naive CD4 T-cell: 6.1 nTPM
memory CD4 T-cell: 6 nTPM
memory CD8 T-cell: 6 nTPM
T-reg: 4.8 nTPM
MAIT T-cell: 4.7 nTPM

Brain region

white matter: 17 nTPM
cerebral cortex: 15 nTPM
hypothalamus: 15 nTPM
thalamus: 15 nTPM
pons: 14 nTPM
cerebellum: 14 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RAB39B.

Disease | AllUniProt

Conditions RAB39B is implicated in, by any mechanism.

Intellectual developmental disorder, X-linked 72 (XLID72) MIM:300271
Waisman syndrome (WSMN) MIM:311510

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 119 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, X-linked 72
Early-onset parkinsonism-intellectual disability syndrome
Parkinson disease, X-linked dominant
Neurodevelopmental disorder
Developmental disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.52
gnomAD pLI: 0.83
gnomAD missense Z: 1.94
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of RAB39B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads RAB39B as an antibody target. Whether an autoantibody or antibody against RAB39B could matter depends on whether native RAB39B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

RAB39B is annotated at the cell surface, where native RAB39B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label RAB39B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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