Gene Gene information from NCBI Gene database.
Entrez ID 23316
Gene name Cut like homeobox 2
Gene symbol CUX2
Synonyms (NCBI Gene)
CDP2CUTL2DEE67EIEE67
Chromosome 12
Chromosome location 12q24.11-q24.12
Summary 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 o
miRNA miRNA information provided by mirtarbase database.
54
miRTarBase ID miRNA Experiments Reference
MIRT022380 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT538246 hsa-miR-451a PAR-CLIP 22012620
MIRT538247 hsa-miR-552-5p PAR-CLIP 22012620
MIRT538245 hsa-miR-4455 PAR-CLIP 22012620
MIRT538246 hsa-miR-451a PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 15656993
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610648 19347 ENSG00000111249
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14529
Protein name Homeobox protein cut-like 2 (Homeobox protein cux-2)
Protein function Transcription factor involved in the control of neuronal proliferation and differentiation in the brain. Regulates dendrite development and branching, dendritic spine formation, and synaptogenesis in cortical layers II-III. Binds to DNA in a seq
PDB 1WH6 , 1WH8 , 1X2L
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02376 CUT 549 627 CUT domain Domain
PF02376 CUT 892 967 CUT domain Domain
PF02376 CUT 1043 1120 CUT domain Domain
PF00046 Homeodomain 1169 1225 Homeodomain Domain
Sequence
MAANVGSMFQYWKRFDLRRLQKELNSVASELSARQEESEHSHKHLIELRREFKKNVPEEI
REMVAPVLKSFQAEVVALSKRSQEAEAAFLSVYKQLIEAPDPVPVFEAARSLDDRLQPPS
FDPSGQPRRDLHTSWKRNPELLSPKEQREGTSPAGPTLTEGSRLPGIPGKALLTETLLQR
NEAEKQKGLQEVQITLAARLGEAEEKIKVLHSALKATQAELLELRRKYDEEAASKADEVG
LIMTNLEKANQRAEAAQREVESLREQLASVNSSIRLACCSPQGPSGDKVNFTLCSGPRLE
AALASKDREILRLLKDVQHLQSSLQELEEASANQIADLERQLTAKSEAIEKLEEKLQAQS
DYEEIKTELSILKAMKLASSTCSLPQGMAKPEDSLLIAKEAFFPTQKFLLEKPSLLASPE
EDPSEDDSIKDSLGTEQSYPSPQQLPPPPGPEDPLSPSPGQPLLGPSLGPDGTRTFSLSP
FPSLASGERLMMPPAAFKGEAGGLLVFPPAFYGAKPPTAPATPAPGPEPLGGPEPADGGG
GGAAGPGAEEEQLDTAEIAFQVKEQLLKHNIGQRVFGHYVLGLSQGSVSEILARPKPWRK
LTVKGKEPFIKMKQFLSDEQNVLALRT
IQVRQRGSITPRIRTPETGSDDAIKSILEQAKK
EIESQKGGEPKTSVAPLSIANGTTPASTSEDAIKSILEQARREMQAQQQALLEMEVAPRG
RSVPPSPPERPSLATASQNGAPALVKQEEGSGGPAQAPLPVLSPAAFVQSIIRKVKSEIG
DAGYFDHHWASDRGLLSRPYASVSPSLSSSSSSGYSGQPNGRAWPRGDEAPVPPEDEAAA
GAEDEPPRTGELKAEGATAEAGARLPYYPAYVPRTLKPTVPPLTPEQYELYMYREVDTLE
LTRQVKEKLAKNGICQRIFGEKVLGLSQGSVSDMLSRPKPWSKLTQKGREPFIRMQLWLS
DQLGQAV
GQQPGASQASPTEPRSSPSPPPSPTEPEKSSQEPLSLSLESSKENQQPEGRSS
SSLSGKMYSGSQAPGGIQEIVAMSPELDTYSITKRVKEVLTDNNLGQRLFGESILGLTQG
SVSDLLSRPKPWHKLSLKGREPFVRMQLWLNDPHNVEKLR
DMKKLEKKAYLKRRYGLIST
GSDSESPATRSECPSPCLQPQDLSLLQIKKPRVVLAPEEKEALRKAYQLEPYPSQQTIEL
LSFQLNLKTNTVINWFHNYRSRMRR
EMLVEGTQDEPDLDPSGGPGILPPGHSHPDPTPQS
PDSETEDQKPTVKELELQEGPEENSTPLTTQDKAQVRIKQEQMEEDAEEEAGSQPQDSGE
LDKGQGPPKEEHPDPPGNDGLPKVAPGPLLPGGSTPDCPSLHPQQESEAGERLHPDPLSF
KSASESSRCSLEVSLNSPSAASSPGLMMSVSPVPSSSAPISPSPPGAPPAKVPSASPTAD
MAGALHPSAKVNPNLQRRHEKMANLNNIIYRVERAANREEALEWEF
Sequence length 1486
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
130
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CUX2-related disorder Likely pathogenic; Pathogenic rs1565909334 RCV003420268
Developmental and epileptic encephalopathy, 67 Pathogenic; Likely pathogenic rs1351590882, rs2499773555, rs1565909334 RCV001721004
RCV003224764
RCV000709621
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs2499867653 RCV003127389
Bilateral tonic-clonic seizure Benign rs2136373939 RCV001797853
Hypertrophic cardiomyopathy Conflicting classifications of pathogenicity rs748502176 RCV005626497
Intellectual disability Likely benign; Uncertain significance rs377178903, rs749551874, rs375886505, rs1445106287, rs1439998059, rs201097767 RCV005626813
RCV001252219
RCV001252216
RCV001252218
RCV001252220
RCV001252217
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 28067321, 29459676
Autism Spectrum Disorder Associate 29795476
Autistic Disorder Associate 29630738, 29795476
Brain Diseases Associate 29630738, 29795476
Breast Neoplasms Associate 37308906
Cognition Disorders Associate 29630738, 29795476
Coronary Artery Disease Associate 34447459
Crohn Disease Associate 12631665
Diabetes Mellitus Associate 25646370
Diabetes Mellitus Type 1 Associate 22293688