• Gene id: 10620

Gene Summary

• Gene Symbol: ARID3B   Gene   UCSC   Ensembl
• Aliases: BDP, DRIL2
• Gene name: AT-rich interaction domain 3B
• Alternate names: AT-rich interactive domain-containing protein 3B, ARID domain-containing protein 3B, AT rich interactive domain 3B (BRIGHT- like), bright and dead ringer protein, bright-like protein,
• Gene location: 15q24.1 (74541176: 74598130)     Exons: 4     NC_000015.10
• Gene summary(Entrez): This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer
• OMIM: 612457

Protein Summary

• Protein general information: Q8IVW6  
  • Name: AT rich interactive domain containing protein 3B (ARID domain containing protein 3B) (Bright and dead ringer protein) (Bright like protein)
  • Length: 561  
  • Mass: 60637
  • Tissue specificity: Expressed in placenta, testis and leukocytes. Expressed in neuroblastoma. Present in K-562 erythrocytic leukemia cell line (at protein level). {ECO
• Sequence:

  MEPLQQQQQQQQQQQKQPHLAPLQMDAREKQGQQMREAQFLYAQKLVTQPTLLSATAGRPSGSTPLGPLARVPPT
  AAVAQVFERGNMNSEPEEEDGGLEDEDGDDEVAEVAEKETQAASKYFHVQKVARQDPRVAPMSNLLPAPGLPPHG
  QQAKEDHTKDASKASPSVSTAGQPNWNLDEQLKQNGGLAWSDDADGGRGREISRDFAKLYELDGDPERKEFLDDL
  FVFMQKRGTPINRIPIMAKQILDLYMLYKLVTEKGGLVEIINKKIWREITKGLNLPTSITSAAFTLRTQYMKYLY
  AYECEKKALSSPAELQAAIDGNRREGRRPSYSSSLFGYSPAAATAAAAAGAPALLSPPKIRFPILGLGSSSGTNT
  SSPRISPATTLRKGDGAPVTTVPVPNRLAVPVTLASQQAGTRTAALEQLRERLESGEPAEKKASRLSEEEQRLVQ
  QAFQRNFFSMARQLPMKIRINGRAEDRAEASAAALNLTTSSIGSINMSVDIDGTTYAGVLFAQKPVVHLITGSAP
  QSLGSSASSSSSSHCSPSPTSSRGTPSAEPSTSWSL

• Structural information:
  • Protein Domains: (215..30-)
    (/note="ARID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00355-)
    (419..51-)
    (/note="REKLES-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00819"-)
  • Interpro: IPR001606  IPR036431  IPR023334  
  • Prosite: PS51011 PS51486
  • STRING: ENSP00000343126
• Other Databases: GeneCards:  ARID3B  Malacards:  ARID3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0008150	biological_process	ND	biological process
GO:0003677	DNA binding	NAS	molecular function
GO:0005634	nucleus	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray