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BICD2

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens

BICD2
Identifiers
AliasesBICD2, SMALED2, bA526D8.1, BICD cargo adaptor 2, SMALED2B, SMALED2A
External IDsOMIM:609797;MGI:1924145;HomoloGene:9070;GeneCards:BICD2;OMA:BICD2 - orthologs
Gene location (Human)
Chromosome 9 (human)
Chr.Chromosome 9 (human)[1]
Chromosome 9 (human)
Genomic location for BICD2
Genomic location for BICD2
Band9q22.31Start92,711,363bp[1]
End92,764,833bp[1]
Gene location (Mouse)
Chromosome 13 (mouse)
Chr.Chromosome 13 (mouse)[2]
Chromosome 13 (mouse)
Genomic location for BICD2
Genomic location for BICD2
Band13|13 A5Start49,495,061bp[2]
End49,540,502bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gingival epithelium

  • hair follicle

  • human penis

  • nipple

  • vulva

  • skin of arm

  • oral cavity

  • skin of thigh

  • skin of hip

  • mucosa of pharynx
Top expressed in
  • Rostral migratory stream

  • internal carotid artery

  • external carotid artery

  • trigeminal ganglion

  • interventricular septum

  • myocardium of ventricle

  • right lung lobe

  • skin of external ear

  • retinal pigment epithelium

  • atrioventricular valve
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

23299

76895

Ensembl

ENSG00000185963

ENSMUSG00000037933

UniProt

Q8TD16

Q921C5

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 aprotein that in humans is encoded by theBICD2gene.[5][6]

This gene is one of two humanhomologs ofDrosophila bicaudal-D and a member of theBicoid family. It has been implicated indynein-mediated, minus end-directedmotility alongmicrotubules. It has also been reported to be aphosphorylation target of NIMA relatedkinase 8. Two alternative splice variants have been described.[6]

Mutations inBICD2 are associated with spinal muscular atrophy with lower extremity predominancetype 2A andtype 2B.

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000185963Ensembl, May 2017
  2. ^abcGRCm38: 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. ^ab"Entrez Gene: BICD2 bicaudal D homolog 2 (Drosophila)".

Further reading

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External links

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