CUX2

Protein identityUniProt · HPA

UniProt accession

O14529

Gene

CUX2

Ensembl

ENSG00000111249

Chromosome

12

Canonical length

1486 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transcription factors

OverviewNCBI Gene

This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4. [provided by RefSeq, Jan 2013]

Canonical amino-acid sequenceUniProt

1486 residues, UniProt reviewed canonical sequence.

>O14529|CUX2
     1  MAANVGSMFQ YWKRFDLRRL QKELNSVASE LSARQEESEH SHKHLIELRR EFKKNVPEEI
    61  REMVAPVLKS FQAEVVALSK RSQEAEAAFL SVYKQLIEAP DPVPVFEAAR SLDDRLQPPS
   121  FDPSGQPRRD LHTSWKRNPE LLSPKEQREG TSPAGPTLTE GSRLPGIPGK ALLTETLLQR
   181  NEAEKQKGLQ EVQITLAARL GEAEEKIKVL HSALKATQAE LLELRRKYDE EAASKADEVG
   241  LIMTNLEKAN QRAEAAQREV ESLREQLASV NSSIRLACCS PQGPSGDKVN FTLCSGPRLE
   301  AALASKDREI LRLLKDVQHL QSSLQELEEA SANQIADLER QLTAKSEAIE KLEEKLQAQS
   361  DYEEIKTELS ILKAMKLASS TCSLPQGMAK PEDSLLIAKE AFFPTQKFLL EKPSLLASPE
   421  EDPSEDDSIK DSLGTEQSYP SPQQLPPPPG PEDPLSPSPG QPLLGPSLGP DGTRTFSLSP
   481  FPSLASGERL MMPPAAFKGE AGGLLVFPPA FYGAKPPTAP ATPAPGPEPL GGPEPADGGG
   541  GGAAGPGAEE EQLDTAEIAF QVKEQLLKHN IGQRVFGHYV LGLSQGSVSE ILARPKPWRK
   601  LTVKGKEPFI KMKQFLSDEQ NVLALRTIQV RQRGSITPRI RTPETGSDDA IKSILEQAKK
   661  EIESQKGGEP KTSVAPLSIA NGTTPASTSE DAIKSILEQA RREMQAQQQA LLEMEVAPRG
   721  RSVPPSPPER PSLATASQNG APALVKQEEG SGGPAQAPLP VLSPAAFVQS IIRKVKSEIG
   781  DAGYFDHHWA SDRGLLSRPY ASVSPSLSSS SSSGYSGQPN GRAWPRGDEA PVPPEDEAAA
   841  GAEDEPPRTG ELKAEGATAE AGARLPYYPA YVPRTLKPTV PPLTPEQYEL YMYREVDTLE
   901  LTRQVKEKLA KNGICQRIFG EKVLGLSQGS VSDMLSRPKP WSKLTQKGRE PFIRMQLWLS
   961  DQLGQAVGQQ PGASQASPTE PRSSPSPPPS PTEPEKSSQE PLSLSLESSK ENQQPEGRSS
  1021  SSLSGKMYSG SQAPGGIQEI VAMSPELDTY SITKRVKEVL TDNNLGQRLF GESILGLTQG
  1081  SVSDLLSRPK PWHKLSLKGR EPFVRMQLWL NDPHNVEKLR DMKKLEKKAY LKRRYGLIST
  1141  GSDSESPATR SECPSPCLQP QDLSLLQIKK PRVVLAPEEK EALRKAYQLE PYPSQQTIEL
  1201  LSFQLNLKTN TVINWFHNYR SRMRREMLVE GTQDEPDLDP SGGPGILPPG HSHPDPTPQS
  1261  PDSETEDQKP TVKELELQEG PEENSTPLTT QDKAQVRIKQ EQMEEDAEEE AGSQPQDSGE
  1321  LDKGQGPPKE EHPDPPGNDG LPKVAPGPLL PGGSTPDCPS LHPQQESEAG ERLHPDPLSF
  1381  KSASESSRCS LEVSLNSPSA ASSPGLMMSV SPVPSSSAPI SPSPPGAPPA KVPSASPTAD
  1441  MAGALHPSAK VNPNLQRRHE KMANLNNIIY RVERAANREE ALEWEF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CUX2 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)

0.56

Highest tissue expression

20 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CUX2.

Disease | AllUniProt

Conditions CUX2 is implicated in, by any mechanism.

• Developmental and epileptic encephalopathy 67 (DEE67) MIM:618141

Disease | GeneticClinVar

4 pathogenic / likely-pathogenic of 478 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Developmental and epileptic encephalopathy, 67
• CUX2-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)

0.19

gnomAD pLI

1

gnomAD missense Z

3.18

DepMap mean gene effect

-0.05

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

• cognition
• negative regulation of transcription by RNA polymerase II
• positive regulation of dendrite morphogenesis
• positive regulation of dendritic spine morphogenesis
• positive regulation of excitatory postsynaptic potential
• positive regulation of gene expression
• positive regulation of synapse assembly
• regulation of transcription by RNA polymerase II
• short-term memory

Molecular functions

• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• extracellular exosome
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Homeodomain
• CUT domain
• Homedomain-like superfamily
• Lambda repressor-like, DNA-binding domain superfamily
• Homeobox, conserved site
• Cux, N-terminal domain
• Homeodomain
• CUT domain
• CUX1-like, N-terminal tRNA-binding arm

KeywordsUniProt

• Coiled coil
• DNA-binding
• Epilepsy
• Homeobox
• Nucleus
• Phosphoprotein
• Repeat
• Transcription
• Transcription regulation