BBX (BBX high mobility group box domain containing)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 56987
Gene name BBX high mobility group box domain containing
Gene symbol BBX
Synonyms (NCBI Gene)
ARTC1HBP2HSPC339MDS001
Chromosome 3
Chromosome location 3q13.12
miRNA miRNA information provided by mirtarbase database.
1214
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1214)
miRTarBase ID miRNA Experiments Reference
MIRT016947 hsa-miR-335-5p Microarray 18185580
MIRT050155 hsa-miR-26a-5p CLASH 23622248
MIRT049573 hsa-miR-92a-3p CLASH 23622248
MIRT042364 hsa-miR-484 CLASH 23622248
MIRT040700 hsa-miR-92b-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
621127 14422 ENSG00000114439
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WY36
Protein name HMG box transcription factor BBX (Bobby sox homolog) (HMG box-containing protein 2)
Protein function Transcription factor that is necessary for cell cycle progression from G1 to S phase.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 80 → 148 HMG (high mobility group) box Domain
PF09667 DUF2028 191 → 380 Domain of unknown function (DUF2028) Family
Sequence 
MKGSNRNKDHSAEGEGVGKRPKRKCLQWHPLLAKKLLDFSEEEEEEDEEEDIDKVQLLGA
DGLEQDVGETEDDESPEQRARRPMNAFLLFCKRHRSLVRQEHPRLDNRGATKILADWWAV
LDPKEKQKYTDMAKEYKDAFMKANPGYKWCPTTNKPVKSPTPTVNPRKKLWAFPSDSSRD
LPSPKKAKTEEMPQLNFGMADPTQMGGLSMLLLAGEHALGTPEVSSGTCRPDVSESPELR
QKSPLFQFAEISSSTSHSDASTKQCQTSALFQFAEISSNTSQLGGAEPVKRCGKSALFQL
AEMCLASEGMKMEESKLIKAKESDGGRIKELEKGKEEKEIKMEKTDETRLQKEAEFEKSA
KENLRDSKELRNFEALQIDDIMAIKMEDPKEIRKEELEEDHKCSHFPDFSYSASSKIIIS
DVPSRKDHMCHPHGIMIIEDPAALNKPEKLKKKKKKSKMDRHGNDKSTPKKTCKKRQSSE
SDIESVIYTIEAVAKGDWGIEKLGDTPRKKVRTSSSGKGSILDAKPPKKKVKSREKKMSK
EKSSDTTKESRPPDFISISASKNISGETPEGIKAEPLTPMEDALPPSLSGQAKPEDSDCH
RKIETCGSRKSERSCKGALYKTLVSEGMLTSLRANVDRGKRSSGKGNSSDHEGCWNEESW
TFSQSGTSGSKKFKKTKPKEDCLLGSAKLDEEFEKKFNSLPQYSPVTFDRKCVPVPRKKK
KTGNVSSEPTKTSKGPFQSQKKNLFHKIVSKYKHKKEKPNVPEKGSGDKWSNKQLFLDAI
HPTEAIFSEDRNTMEPVHKVKNIPSIFNTPEPTTTQEPLVGSQKRKARKTKITHLVRTAD
GRVSPAGGTLDDKPKEQLQRSLPKATETDCNDKCSHNTEVGETRSSTPEMPAVSAFFSLA
ALAEVAAMENVHRGQRSTPLTHDGQPKEMPQAPVLISCADQ
Sequence length 941
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (16)
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 Evidence Score
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 34217363
★★★★★
★☆☆☆☆
Found in Text Mining only