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BBX (BBX high mobility group box domain containing)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56987
Gene nameGene Name - the full gene name approved by the HGNC.
BBX high mobility group box domain containing
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BBX
SynonymsGene synonyms aliases
ARTC1, HBP2, HSPC339, MDS001
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.12
miRNAmiRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005634 Component Nucleus IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
LDPKEKQKYTDMAKEYKDAFMKANPGYK
WCPTTNKPVKSPTPTVNPRKKLWAFPSDSSRD
LPSPKKAKTEEMPQLNFGMADPTQMGGLSMLLLAGEHALGTPEVSSGTCRPDVSESPELR
QKSPLFQFAEISSSTSHSDASTKQCQTSALFQFAEISSNTSQLGGAEPVKRCGKSALFQL
AEMCLASEGMKMEESKLIKAKESDGGRIKELEKGKEEKEIKMEKTDETRLQKEAEFEKSA
KENLRDSKELRNFEALQIDD
IMAIKMEDPKEIRKEELEEDHKCSHFPDFSYSASSKIIIS
DVPSRKDHMCHPHGIMIIEDPAALNKPEKLKKKKKKSKMDRHGNDKSTPKKTCKKRQSSE
SDIESVIYTIEAVAKGDWGIEKLGDTPRKKVRTSSSGKGSILDAKPPKKKVKSREKKMSK
EKSSDTTKESRPPDFISISASKNISGETPEGIKAEPLTPMEDALPPSLSGQAKPEDSDCH
RKIETCGSRKSERSCKGALYKTLVSEGMLTSLRANVDRGKRSSGKGNSSDHEGCWNEESW
TFSQSGTSGSKKFKKTKPKEDCLLGSAKLDEEFEKKFNSLPQYSPVTFDRKCVPVPRKKK
KTGNVSSEPTKTSKGPFQSQKKNLFHKIVSKYKHKKEKPNVPEKGSGDKWSNKQLFLDAI
HPTEAIFSEDRNTMEPVHKVKNIPSIFNTPEPTTTQEPLVGSQKRKARKTKITHLVRTAD
GRVSPAGGTLDDKPKEQLQRSLPKATETDCNDKCSHNTEVGETRSSTPEMPAVSAFFSLA
ALAEVAAMENVHRGQRSTPLTHDGQPKEMPQAPVLISCADQ
Sequence length 941
Interactions View interactions
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Schizophrenia Schizophrenia rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 31374203
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia 28196072
Mental depression Major Depressive Disorder rs587778876, rs587778877 29942085
Mood disorder Mood Disorders 29942085

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