Nuclear Body Protein SP110

Alternative Names

  • SP110
  • Speckled, 110-KD
  • Intracellular Pathogen Resistance 1, Mouse, Homolog of IPR1
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OMIM Number

604457

NCBI Gene ID

3431

Uniprot ID

Q9HB58

Length

58,437 bases

No. of Exons

24

No. of isoforms

7

Protein Name

Sp110 nuclear body protein

Molecular Mass

78396Da

Amino Acid Count

689

Genomic Location

chr2:230,167,293-230,225,729

Gene Map Locus
2q37.1

Description

SP110 gene encodes a leukocyte-specific nuclear body component named Sp110 nuclear body protein that is known to be involved in transcriptional regulation. Studies have shown high levels of SP110 gene expression in peripheral blood leukocytes and spleen. It has been reported that SP110 could be a nuclear hormone receptor co-activator and it may also be associated with ribosome biogenesis, immuno-regulation and myeloid cell differentiation.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_080424.2:c.40delLebanonNC_000002.12:g.230216888delPathogenicPathogenicHepatic Venoocclusive Disease with ImmunodeficiencyNG_008295.1:g.8225del; NM_080424.2:c.40del; NP_536349.2:p.Gln14SerfsTer253975153625538
NM_080424.2:c.642delLebanonNC_000002.12:g.230212374delPathogenicPathogenicHepatic Venoocclusive Disease with ImmunodeficiencyNG_008295.1:g.12741del; NM_080424.2:c.642del; NP_536349.2:p.Ser215AlafsTer143975153615537
NM_080424.2:c.691C>TUnited Arab EmiratesNC_000002.12:g.230211530G>ANG_008295.1:g.13583C>T; NM_080424.2:c.691C>T; NP_536349.2:p.Gln231Ter
NM_080424.4:c.373delPalestinechr2:230212972PathogenicPathogenicHepatic Venoocclusive Disease with ImmunodeficiencyNG_051286.1:g.15049del; NM_080424.4:c.373del; NP_004500.4:p.Thr125fs39751557065744
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