CELF2

Protein identityUniProt · HPA

UniProt accession

O95319

Gene

CELF2

Ensembl

ENSG00000048740

Chromosome

10

Canonical length

508 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Vesicles,Midbody ring

OverviewNCBI Gene

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

508 residues, UniProt reviewed canonical sequence.

>O95319|CELF2
     1  MRCPKSAVTM RNEELLLSNG TANKMNGALD HSDQPDPDAI KMFVGQIPRS WSEKELKELF
    61  EPYGAVYQIN VLRDRSQNPP QSKGCCFVTF YTRKAALEAQ NALHNIKTLP GMHHPIQMKP
   121  ADSEKSNAVE DRKLFIGMVS KKCNENDIRV MFSPFGQIEE CRILRGPDGL SRGCAFVTFS
   181  TRAMAQNAIK AMHQSQTMEG CSSPIVVKFA DTQKDKEQRR LQQQLAQQMQ QLNTATWGNL
   241  TGLGGLTPQY LALLQQATSS SNLGAFSGIQ QMAGMNALQL QNLATLAAAA AAAQTSATST
   301  NANPLSTTSS ALGALTSPVA ASTPNSTAGA AMNSLTSLGT LQGLAGATVG LNNINALAGM
   361  AALNGGLGAT GLTNGTAGTM DALTQAYSGI QQYAAAALPT LYSQSLLQQQ SAAGSQKEGP
   421  EGANLFIYHL PQEFGDQDIL QMFMPFGNVI SAKVFIDKQT NLSKCFGFVS YDNPVSAQAA
   481  IQAMNGFQIG MKRLKVQLKR SKNDSKPY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CELF2 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)

0.49

Highest tissue expression

74 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CELF2.

Disease | AllUniProt

Conditions CELF2 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 97 (DEE97) MIM:619561

Disease | GeneticClinVar

17 pathogenic / likely-pathogenic of 112 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy 97
• Neurodevelopmental disorder
• CELF2-related 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)

0.17

gnomAD pLI

1

gnomAD missense Z

4.34

DepMap mean gene effect

-0.06

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• mRNA splice site recognition
• regulation of alternative mRNA splicing, via spliceosome
• regulation of heart contraction
• RNA processing

Molecular functions

• mRNA 3'-UTR binding
• pre-mRNA binding
• RNA binding

Cellular components

• cytoplasm
• Flemming body
• nucleoplasm
• nucleus
• ribonucleoprotein complex

Protein domainsUniProt · Pfam · InterPro

• RNA recognition motif domain
• Paraneoplastic encephalomyelitis antigen
• Nucleotide-binding alpha-beta plait domain superfamily
• CELF1/2, RNA recognition motif 1
• CELF1/2, RNA recognition motif 2
• CELF1/2, RNA recognition motif 3
• RNA-binding domain superfamily
• RNA recognition motif

KeywordsUniProt

• Cytoplasm
• Epilepsy
• Intellectual disability
• mRNA processing
• Nucleus
• Repeat
• Repressor
• RNA-binding

InteractionsUniProt · HPA

Protein binding partners of CELF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• A1CF