Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 11335
Gene name Chromobox 3
Gene symbol CBX3
Synonyms (NCBI Gene)
HECHHP1-GAMMAHP1Hs-gammaHP1gamma
Chromosome 7
Chromosome location 7p15.2
Summary At the nuclear envelope, the nuclear lamina and heterochromatin are adjacent to the inner nuclear membrane. The protein encoded by this gene binds DNA and is a component of heterochromatin. This protein also can bind lamin B receptor, an integral membrane
miRNA miRNA information provided by mirtarbase database.
622 Show/Hide all (622)
miRTarBase ID miRNA Experiments Reference
MIRT025978 hsa-miR-148a-3p Sequencing 20371350
MIRT048788 hsa-miR-93-5p CLASH 23622248
MIRT048414 hsa-miR-100-5p CLASH 23622248
MIRT045000 hsa-miR-186-5p CLASH 23622248
MIRT045000 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37 Show/Hide all (37)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IDA 10504293
GO:0000779 Component Condensed chromosome, centromeric region ISS
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0000785 Component Chromatin IDA 11101528
GO:0000791 Component Euchromatin IDA 11124534
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604477 1553 ENSG00000122565
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13185
Protein name Chromobox protein homolog 3 (HECH) (Heterochromatin protein 1 homolog gamma) (HP1 gamma) (Modifier 2 protein)
Protein function Seems to be involved in transcriptional silencing in heterochromatin-like complexes. Recognizes and binds histone H3 tails methylated at 'Lys-9', leading to epigenetic repression. May contribute to the association of the heterochromatin with the
PDB 2L11 , 3DM1 , 3KUP , 3TZD , 5T1I , 6HW2 , 8JZW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00385 Chromo 30 → 79 Chromo (CHRromatin Organisation MOdifier) domain Domain
PF01393 Chromo_shadow 122 → 174 Chromo shadow domain Domain
Sequence
MASNKTTLQKMGKKQNGKSKKVEEAEPEEFVVEKVLDRRVVNGKVEYFLKWKGFTDADNT
WEPEENLDCPELIEAFLNS
QKAGKEKDGTKRKSLSDSESDDSKSKKKRDAADKPRGFARG
LDPERIIGATDSSGELMFLMKWKDSDEADLVLAKEANMKCPQIVIAFYEERLTWHSCPED
EAQ
Sequence length 183
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Polycomb repressive complex RNA Polymerase I Promoter Escape
Shigellosis Transcriptional Regulation by E2F6
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Recurrent spontaneous abortion Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (63)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24751108, 29764865
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 29903985
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 28154185 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 28154185
★★★★★
★☆☆☆☆
Found in Text Mining only
beta Thalassemia Beta thalassemia Pubtator 28154185 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29190923, 31413816
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23699411, 25769025 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 31375643 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34008749 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34925377, 35471148 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only