AT-Rich Interaction Domain-Containing Protein 1B

Alternative Names

  • ARID1B
  • ARID-Containing Protein
  • BAF-Associated Factor
  • BAF250B
  • ELD/OSA1
  • KIAA1235

Associated Diseases

Coffin-Siris Syndrome 1
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OMIM Number

614556

NCBI Gene ID

57492

Uniprot ID

Q8NFD5

Length

434,760 bases

No. of Exons

25

No. of isoforms

4

Protein Name

AT-rich interactive domain-containing protein 1B

Molecular Mass

236123 Da

Amino Acid Count

2236

Genomic Location

chr6:156,776,020-157,210,779

Gene Map Locus
6q25.3

Description

This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001374828.1:c.4058+1G>CUnited Arab EmiratesNC_000006.12:g.157189781G>CPathogenicPathogenicCoffin-Siris Syndrome 1NG_032093.2:g.416852G>C; NM_001374828.1:c.4058+1G>C1057518691374317
NM_017519.3:c.4567C>TUnited Arab EmiratesNC_000006.12:g.157200951C>TLikely PathogenicCoffin-Siris Syndrome 1NG_066624.1:g.429926C>T; NM_017519.3:c.4567C>T; NP_001358585.1:p.Gln1536Ter1554235684
NM_017519.3:c.5080C>TUnited Arab EmiratesNC_000006.12:g.157201464C>TPathogenicPathogenicCoffin-Siris Syndrome 1NG_032093.2:g.428535C>T; NM_017519.3:c.5080C>T; NP_059989.3:p.Arg1694Ter1554236040503753
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