Seroatlas · Human Serome Atlas

CRBN

Protein cereblon

Also known as: CRBN_HUMAN, MRT2, MRT2A

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

Protein identityUniProt · HPA

UniProt accession: Q96SW2
Gene: CRBN
Ensembl: ENSG00000113851
Chromosome: 3
Canonical length: 442 aa
Protein class: Disease related genes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Transporters

OverviewNCBI Gene

This gene encodes a protein related to the Lon protease protein family. In rodents and other mammals this gene product is found in the cytoplasm localized with a calcium channel membrane protein, and is thought to play a role in brain development. Mutations in this gene are associated with autosomal recessive nonsyndromic cognitive disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]

Canonical amino-acid sequenceUniProt

442 residues, UniProt reviewed canonical sequence.

>Q96SW2|CRBN
     1  MAGEGDQQDA AHNMGNHLPL LPAESEEEDE MEVEDQDSKE AKKPNIINFD TSLPTSHTYL
    61  GADMEEFHGR TLHDDDSCQV IPVLPQVMMI LIPGQTLPLQ LFHPQEVSMV RNLIQKDRTF
   121  AVLAYSNVQE REAQFGTTAE IYAYREEQDF GIEIVKVKAI GRQRFKVLEL RTQSDGIQQA
   181  KVQILPECVL PSTMSAVQLE SLNKCQIFPS KPVSREDQCS YKWWQKYQKR KFHCANLTSW
   241  PRWLYSLYDA ETLMDRIKKQ LREWDENLKD DSLPSNPIDF SYRVAACLPI DDVLRIQLLK
   301  IGSAIQRLRC ELDIMNKCTS LCCKQCQETE ITTKNEIFSL SLCGPMAAYV NPHGYVHETL
   361  TVYKACNLNL IGRPSTEHSW FPGYAWTVAQ CKICASHIGW KFTATKKDMS PQKFWGLTRS
   421  ALLPTIPDTE DEISPDKVIL CL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CRBN 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 44 nTPM

Expression across tissuesHPA

Tissue

testis: 44 nTPM
bone marrow: 39 nTPM
skeletal muscle: 38 nTPM
tongue: 36 nTPM
spinal cord: 34 nTPM
liver: 32 nTPM

Single-cell type

oocytes: 350 nCPM
late primary spermatocytes: 340 nCPM
platelets: 337 nCPM
mast cells: 187 nCPM
early spermatids: 162 nCPM
thymic myoid cells: 122 nCPM

Immune cell

basophil: 309 nTPM
NK-cell: 103 nTPM
eosinophil: 98 nTPM
total PBMC: 95 nTPM
naive CD4 T-cell: 83 nTPM
memory CD4 T-cell: 82 nTPM

Brain region

white matter: 54 nTPM
pons: 49 nTPM
medulla oblongata: 48 nTPM
cerebellum: 47 nTPM
spinal cord: 46 nTPM
cerebral cortex: 45 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CRBN.

Disease | AllUniProt

Conditions CRBN is implicated in, by any mechanism.

Intellectual developmental disorder, autosomal recessive 2 (MRT2) MIM:607417

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 127 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Intellectual disability, autosomal recessive 2
Multiple myeloma
See cases

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): 0.64
gnomAD pLI: 0
gnomAD missense Z: -0.04
DepMap mean gene effect: 0.08
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% 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 CRBN 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 CRBN as an antibody target. Whether an autoantibody or antibody against CRBN could matter depends on whether native CRBN is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CRBN is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

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

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