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Browse our BBS2 Proteins (BBS2)

Full name:
Bardet-Biedl Syndrome 2 Proteins (BBS2)
On www.antibodies-online.com are 3 Bardet-Biedl Syndrome 2 (BBS2) Proteins from 2 different suppliers available. Additionally we are shipping BBS2 Antibodies (28) and many more products for this protein. A total of 36 BBS2 products are currently listed.
Synonyms:
2410125H22Rik, AI447581, BBS, DKFZp468B105, DKFZp469L0919, fb80a05, wu:fb80a05
list all proteins Gene Name GeneID UniProt
BBS2 583 Q9BXC9
Rat BBS2 BBS2 113948 Q99MH9
BBS2 67378 Q9CWF6

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BBS2 Proteins (BBS2) by Origin

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Human Bardet-Biedl Syndrome 2 (BBS2) interaction partners

  1. A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother

  2. we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3, BBS9 (show BBS9 Proteins), BBS10 (show BBS10 Proteins) and BBS2) compared to worldwide (BBS1 (show BBS1 Proteins) and 10) reports.

  3. Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition.

  4. Novel mutation (c.115+5G>A) in BBS2 found in Tunisian families with Bardet-Biedl syndrome.

  5. Carrier frequency has been determined for two BBS2 mutations present in the Ashkenazi Jewish population.

  6. Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472-2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts.

  7. Identification of a novel Bardet-Biedl syndrome protein, BBS7 (show BBS7 Proteins), that shares structural features with this protein.

  8. The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype.

  9. A novel missense mutation found in BBS2 exon 4 and a novel intronic point mutation found in Bardet-Biedl syndrome patients.

  10. BBS2 and BBS4 localized to cellular structures associated with motile cilia.

Mouse (Murine) Bardet-Biedl Syndrome 2 (BBS2) interaction partners

  1. Bbs1 (show BBS1 Proteins), Bbs2, and Bbs4 (show BBS4 Proteins) proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.

  2. Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 and Bbs6 (show MKKS Proteins) genes affect differentially the vascular function.

  3. mice lacking Bbs2 gene expression have phenotypes associated with cilia dysfunction, including retinopathy, renal cysts, male infertility, and a deficit in olfaction

  4. Although BBS proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1 (show BBS1 Proteins), Bbs2, Bbs4 (show BBS4 Proteins), and Bbs6 (show MKKS Proteins) mutant mice.

  5. a lack of ciliary localization of somatostatin receptor type 3 (Sstr3 (show SSTR3 Proteins)) and melanin-concentrating hormone receptor 1 (Mchr1 (show MCHR1 Proteins)) in neurons from mice lacking the Bbs2 or Bbs4 (show BBS4 Proteins) gene

  6. Bardet-Biedl syndrome (BBS) proteins mediate LepR (show LEPR Proteins) trafficking and that impaired LepR (show LEPR Proteins) signaling underlies energy imbalance in BBS.

BBS2 Protein Profile

Protein Summary

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene forms a multiprotein BBSome complex with six other BBS proteins.

Alternative names and synonyms associated with BBS2

  • Bardet-Biedl syndrome 2 (bbs2)
  • Bardet-Biedl syndrome 2 (BBS2)
  • bardet-biedl syndrome 2 (BBS2)
  • Bardet-Biedl syndrome 2 (Bbs2)
  • Bardet-Biedl syndrome 2 (human) (Bbs2)
  • 2410125H22Rik protein
  • AI447581 protein
  • BBS protein
  • DKFZp468B105 protein
  • DKFZp469L0919 protein
  • fb80a05 protein
  • wu:fb80a05 protein

Protein level used designations for Bardet-Biedl Syndrome 2 Proteins (BBS2)

Bardet-Biedl syndrome 2 protein homolog , Bardet-Biedl syndrome 2 , Bardet-Biedl syndrome 2 protein , bardet-biedl syndrome 2 , bardet-Biedl syndrome 2 protein-like , Bardet-Biedl syndrome 2 homolog

GENE ID SPECIES
259187 Danio rerio
454102 Pan troglodytes
533611 Bos taurus
700353 Macaca mulatta
9687945 Micromonas pusilla CCMP1545
100172794 Pongo abelii
100196720 Salmo salar
100396633 Callithrix jacchus
583 Homo sapiens
415694 Gallus gallus
478121 Canis lupus familiaris
113948 Rattus norvegicus
67378 Mus musculus
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