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Aliases for BICD2 Gene

Aliases for BICD2 Gene

  • Bicaudal D Homolog 2 (Drosophila) 2 3
  • KIAA0699 4 6
  • Bic-D 2 3 4
  • SMALED2 3 6
  • Cytoskeleton-Like Bicaudal D Protein Homolog 2 3
  • Homolog Of Drosophila Bicaudal D 3
  • Protein Bicaudal D Homolog 2 3
  • Coiled-Coil Protein BICD2 3
  • BA526D8.1 3

External Ids for BICD2 Gene

Summaries for BICD2 Gene

Entrez Gene Summary for BICD2 Gene

  • 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for BICD2 Gene

BICD2 (Bicaudal D Homolog 2 (Drosophila)) is a Protein Coding gene. Diseases associated with BICD2 include spinal muscular atrophy, lower extremity-predominant, 2, ad and autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures. GO annotations related to this gene include Rab GTPase binding. An important paralog of this gene is BICD1.

UniProtKB/Swiss-Prot for BICD2 Gene

  • May play a role in the dynein-dynactin interactions on the surface of membranous organelles, by associating with these complexes. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex (By similarity).

Gene Wiki entry for BICD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BICD2 Gene

Genomics for BICD2 Gene

Genomic Location for BICD2 Gene

Start:
92,711,363 bp from pter
End:
92,764,812 bp from pter
Size:
53,450 bases
Orientation:
Minus strand

Genomic View for BICD2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BICD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BICD2 Gene

Regulatory Elements for BICD2 Gene

Proteins for BICD2 Gene

  • Protein details for BICD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TD16-BICD2_HUMAN
    Recommended name:
    Protein bicaudal D homolog 2
    Protein Accession:
    Q8TD16
    Secondary Accessions:
    • O75181
    • Q5TBQ2
    • Q5TBQ3
    • Q96LH2
    • Q9BT84
    • Q9H561

    Protein attributes for BICD2 Gene

    Size:
    824 amino acids
    Molecular mass:
    93533 Da
    Quaternary structure:
    • Interacts with DCTN2 and RAB6A. Interacts with NEK9. Interacts with DNAI1. Interacts with DYNC1H1.
    SequenceCaution:
    • Sequence=BAA31674.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for BICD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BICD2 Gene

Proteomics data for BICD2 Gene at MOPED

Post-translational modifications for BICD2 Gene

Other Protein References for BICD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BICD2 Gene

Domains for BICD2 Gene

Protein Domains for BICD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BICD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TD16

UniProtKB/Swiss-Prot:

BICD2_HUMAN
Domain:
  • The fourth coiled coil region is involved in Golgi targeting and in the interaction with DCTN2.:
    • Q8TD16
Family:
  • Belongs to the BicD family.:
    • Q8TD16
genes like me logo Genes that share domains with BICD2: view

No data available for Gene Families for BICD2 Gene

Function for BICD2 Gene

Molecular function for BICD2 Gene

UniProtKB/Swiss-Prot Function: May play a role in the dynein-dynactin interactions on the surface of membranous organelles, by associating with these complexes. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex (By similarity).

Gene Ontology (GO) - Molecular Function for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16417406
GO:0017137 Rab GTPase binding ISS --
genes like me logo Genes that share ontologies with BICD2: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for BICD2 Gene

Localization for BICD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BICD2 Gene

Golgi apparatus. Cytoplasm, cytoskeleton. Note=In interphase cells mainly localizes to the Golgi complex and colocalizes with dynactin at microtubule plus ends (By similarity). Its localization is dependent on microtubule morphology. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BICD2 Gene COMPARTMENTS Subcellular localization image for BICD2 gene
Compartment Confidence
cytoskeleton 5
golgi apparatus 5
plasma membrane 4
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane IDA --
GO:0031410 cytoplasmic vesicle ISS --
genes like me logo Genes that share ontologies with BICD2: view

Pathways for BICD2 Gene

SuperPathways for BICD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport --
GO:0007018 microtubule-based movement --
GO:0008219 cell death --
GO:0072385 minus-end-directed organelle transport along microtubule ISS --
GO:0072393 microtubule anchoring at microtubule organizing center ISS --
genes like me logo Genes that share ontologies with BICD2: view

No data available for Pathways by source for BICD2 Gene

Transcripts for BICD2 Gene

mRNA/cDNA for BICD2 Gene

Unigene Clusters for BICD2 Gene

Bicaudal D homolog 2 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BICD2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b
SP1:
SP2:

Relevant External Links for BICD2 Gene

GeneLoc Exon Structure for
BICD2
ECgene alternative splicing isoforms for
BICD2

Expression for BICD2 Gene

mRNA expression in normal human tissues for BICD2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for BICD2 Gene

SOURCE GeneReport for Unigene cluster for BICD2 Gene Hs.436939

mRNA Expression by UniProt/SwissProt for BICD2 Gene

Q8TD16-BICD2_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expressions with BICD2: view

No data available for mRNA differential expression in normal tissues for BICD2 Gene

Orthologs for BICD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BICD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BICD2 35
  • 99.6 (n)
  • 99.76 (a)
BICD2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BICD2 35
  • 88.45 (n)
  • 92.67 (a)
BICD2 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BICD2 35
  • 89.35 (n)
  • 92.46 (a)
BICD2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Bicd2 35
  • 90.11 (n)
  • 95.64 (a)
Bicd2 16
Bicd2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia BICD2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BICD2 36
  • 80 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bicd2 35
  • 89.2 (n)
  • 95.05 (a)
chicken
(Gallus gallus)
Aves BICD2 35
  • 75.39 (n)
  • 82.58 (a)
BICD2 36
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BICD2 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.26943 35
tropical clawed frog
(Silurana tropicalis)
Amphibia bicd2 35
  • 76.18 (n)
  • 79.62 (a)
Str.5535 35
zebrafish
(Danio rerio)
Actinopterygii bicd2 36
  • 63 (a)
OneToMany
BICD2 (2 of 2) 36
  • 72 (a)
OneToMany
LOC557383 35
  • 67.41 (n)
  • 70.58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010206 35
  • 50.58 (n)
  • 43.4 (a)
fruit fly
(Drosophila melanogaster)
Insecta BicD 35
  • 53.99 (n)
  • 45.04 (a)
BicD 36
  • 38 (a)
OneToMany
BicD 37
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea bicd-1 35
  • 43.94 (n)
  • 39.23 (a)
bicd-1 36
  • 26 (a)
OneToMany
C43G2.2 37
  • 30 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3535 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 29 (a)
OneToMany
Species with no ortholog for BICD2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BICD2 Gene

ENSEMBL:
Gene Tree for BICD2 (if available)
TreeFam:
Gene Tree for BICD2 (if available)

Paralogs for BICD2 Gene

Paralogs for BICD2 Gene

Selected SIMAP similar genes for BICD2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with BICD2: view

Variants for BICD2 Gene

Sequence variations from dbSNP and Humsavar for BICD2 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs556 -- 92,711,437(+) TATGC(A/G)CACTG utr-variant-3-prime
rs9774 -- 92,712,032(-) CGAGA(A/C)ATTAT utr-variant-3-prime
rs753802 -- 92,735,919(+) TCACC(C/G)TAAGG intron-variant
rs753803 -- 92,736,016(+) GAGGC(A/G)TTTGA intron-variant
rs753804 -- 92,736,138(+) CACAA(C/G)ATACA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BICD2 Gene

Variant ID Type Subtype PubMed ID
esv999632 CNV Deletion 20482838
nsv6616 CNV Insertion 18451855

Relevant External Links for BICD2 Gene

HapMap Linkage Disequilibrium report
BICD2
Human Gene Mutation Database (HGMD)
BICD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BICD2 Gene

Disorders for BICD2 Gene

(1) OMIM Diseases for BICD2 Gene (609797)

UniProtKB/Swiss-Prot

BICD2_HUMAN
  • Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290]: An autosomal dominant form of spinal muscular atrophy characterized by early-childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement. The disorder results in delayed walking, waddling gait, difficulty walking, and loss of distal reflexes. Some patients may have foot deformities or hyperlordosis, and some show mild upper motor signs, such as spasticity. Sensation, bulbar function, and cognitive function are preserved. The disorder shows very slow progression throughout life. {ECO:0000269 PubMed:23664116, ECO:0000269 PubMed:23664119, ECO:0000269 PubMed:23664120}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with BICD2: view

Publications for BICD2 Gene

  1. Purification, cloning, and characterization of Nek8, a novel NIMA- related kinase, and its candidate substrate Bicd2. (PMID: 11864968) Holland P.M. … Virca G.D. (J. Biol. Chem. 2002) 3 4 23
  2. 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. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3 4
  5. Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. (PMID: 23664116) Neveling K. … Wirth B. (Am. J. Hum. Genet. 2013) 3 4

Products for BICD2 Gene

Sources for BICD2 Gene

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