BICD2

From Wikipedia the free encyclopedia

BICD2
Identifiers
AliasesBICD2, SMALED2, bA526D8.1, BICD cargo adaptor 2, SMALED2B, SMALED2A
External IDsOMIM: 609797; MGI: 1924145; HomoloGene: 9070; GeneCards: BICD2; OMA:BICD2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_015250
NM_001003800

NM_001039179
NM_001039180
NM_029791

RefSeq (protein)

NP_001003800
NP_056065

NP_001034268
NP_001034269
NP_084067

Location (UCSC)Chr 9: 92.71 – 92.76 MbChr 13: 49.5 – 49.54 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Bicaudal D cargo adaptor 2 is a protein that in humans is encoded by the BICD2 gene.[5][6]

This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described.[6]

Mutations in BICD2 are associated with spinal muscular atrophy with lower extremity predominance type 2A and type 2B.

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000185963Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037933Ensembl, 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. ^ Ishikawa K, Nagase T, Suyama M, Miyajima N, Tanaka A, Kotani H, et al. (Dec 1998). "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Res. 5 (3): 169–76. doi:10.1093/dnares/5.3.169. PMID 9734811.
  6. ^ a b "Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)".
[edit]

Further reading

[edit]