BBS2

Bardet–Biedl syndrome 2 protein is a protein that in humans is encoded by the BBS2 gene.[5][6]

BBS2
Identifiers
AliasesBBS2, BBS, RP74, Bardet-Biedl syndrome 2
External IDsOMIM: 606151 MGI: 2135267 HomoloGene: 12122 GeneCards: BBS2
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16q13Start56,466,836 bp[1]
End56,520,087 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

583

67378

Ensembl

ENSG00000125124

ENSMUSG00000031755

UniProt

Q9BXC9

Q9CWF6

RefSeq (mRNA)

NM_031885
NM_001377456

NM_026116

RefSeq (protein)

NP_114091
NP_001364385

NP_080392

Location (UCSC)Chr 16: 56.47 – 56.52 MbChr 8: 94.07 – 94.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet–Biedl syndrome type 2. Bardet–Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and mental retardation.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000125124 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000031755 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC (Apr 2001). "Positional cloning of a novel gene on chromosome 16q causing Bardet–Biedl syndrome (BBS2)". Hum Mol Genet. 10 (8): 865–74. doi:10.1093/hmg/10.8.865. PMID 11285252.
  6. "Entrez Gene: BBS2 Bardet-Biedl syndrome 2".

Further reading


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