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Aliases for BICD2 Gene

Aliases for BICD2 Gene

  • BICD Cargo Adaptor 2 2 3
  • Bicaudal D Homolog 2 (Drosophila) 2 5
  • Bic-D 2 3 4
  • Cytoskeleton-Like Bicaudal D Protein Homolog 2 3
  • Homolog Of Drosophila Bicaudal D 3
  • Coiled-Coil Protein BICD2 3
  • Bicaudal D Homolog 2 3
  • BA526D8.1 3
  • KIAA0699 4
  • SMALED2 3

External Ids for BICD2 Gene

Previous GeneCards Identifiers for BICD2 Gene

  • GC09M086300
  • GC09M087201
  • GC09M088772
  • GC09M090815
  • GC09M090816
  • GC09M092553
  • GC09M094513
  • GC09M095473
  • GC09M065151

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 (BICD Cargo Adaptor 2) 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. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. 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

Regulatory Elements for BICD2 Gene

Enhancers for BICD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around BICD2 on UCSC Golden Path with GeneCards custom track

Promoters for BICD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BICD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for BICD2 Gene

Chromosome:
9
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

Genes around BICD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BICD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BICD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 CPNE4 (via VWFA domain) (By similarity). Interacts with DCTN2 and RAB6A (PubMed:23664119). Interacts with NEK9 (PubMed:11864968). Interacts with DNAI1 (PubMed:23664119, PubMed:23664120). Interacts with DYNC1H1 (PubMed:25512093).
    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:

Antibody Products

No data available for DME Specific Peptides for BICD2 Gene

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

Human Phenotype Ontology for BICD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for BICD2 Gene

miRTarBase miRNAs that target BICD2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets 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 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
genes like me logo Genes that share ontologies with BICD2: view

Pathways & Interactions for BICD2 Gene

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

Gene Ontology (GO) - Biological Process for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0072385 minus-end-directed organelle transport along microtubule ISS --
genes like me logo Genes that share ontologies with BICD2: view

No data available for SIGNOR curated interactions for BICD2 Gene

Drugs & Compounds for BICD2 Gene

No Compound Related Data Available

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

Protein differential expression in normal tissues from HIPED for BICD2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (26.9) and Adrenal (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with BICD2: view

Protein tissue co-expression partners for BICD2 Gene

Primer Products

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
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
chimpanzee
(Pan troglodytes)
Mammalia BICD2 35
  • 99.6 (n)
  • 99.76 (a)
BICD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Bicd2 35
  • 89.2 (n)
  • 95.05 (a)
oppossum
(Monodelphis domestica)
Mammalia BICD2 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BICD2 36
  • 80 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia bicd2 35
  • 76.18 (n)
  • 79.62 (a)
Str.5535 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.26943 35
zebrafish
(Danio rerio)
Actinopterygii LOC557383 35
  • 67.41 (n)
  • 70.58 (a)
bicd2 36
  • 63 (a)
OneToMany
BICD2 (2 of 2) 36
  • 72 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BicD 37
  • 38 (a)
BicD 35
  • 53.99 (n)
  • 45.04 (a)
BicD 36
  • 38 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010206 35
  • 50.58 (n)
  • 43.4 (a)
worm
(Caenorhabditis elegans)
Secernentea C43G2.2 37
  • 30 (a)
bicd-1 35
  • 43.94 (n)
  • 39.23 (a)
bicd-1 36
  • 26 (a)
OneToMany
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

(1) 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
rs61754130 - 92,729,208(+) CCTTC(C/T)TGTGG reference, missense
VAR_070112 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2)
VAR_070113 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2)
VAR_070114 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2)
VAR_070115 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2)

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

Variation tolerance for BICD2 Gene

Residual Variation Intolerance Score: 8.11% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.74; 33.05% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BICD2 Gene

Human Gene Mutation Database (HGMD)
BICD2

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

Disorders for BICD2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for BICD2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spinal muscular atrophy, lower extremity-predominant, 2, ad
  • spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant
autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • smaled2
muscular atrophy
  • amyotrophia nos
spinal muscular atrophy
  • juvenile spinal muscular atrophy
proximal spinal muscular atrophy
  • spinal muscular atrophy
- elite association - COSMIC cancer census association via MalaCards
Search BICD2 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for BICD2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BICD2
genes like me logo Genes that share disorders with BICD2: view

No data available for Genatlas for BICD2 Gene

Publications for BICD2 Gene

  1. 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 67
  2. 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 23
  3. Proteomic analysis and identification of cellular interactors of the giant ubiquitin ligase HERC2. (PMID: 25476789) Galligan J.T. … Howley P.M. (J. Proteome Res. 2015) 3
  4. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. (PMID: 25497877) Rossor A.M. … North K.N. (Brain 2015) 3
  5. Reconstitution of the targeting of Rab6A to the Golgi apparatus in semi-intact HeLa cells: A role of BICD2 in stabilizing Rab6A on Golgi membranes and a concerted role of Rab6A/BICD2 interactions in Golgi-to-ER retrograde transport. (PMID: 25962623) Matsuto M. … Murata M. (Biochim. Biophys. Acta 2015) 3

Products for BICD2 Gene

Sources for BICD2 Gene

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