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Aliases for BICD2 Gene

Aliases for BICD2 Gene

  • BICD Cargo Adaptor 2 2 3 5
  • Bic-D 2 3 4
  • Cytoskeleton-Like Bicaudal D Protein Homolog 2 3
  • Bicaudal D Homolog 2 (Drosophila) 2
  • Homolog Of Drosophila Bicaudal D 3
  • Protein Bicaudal D Homolog 2 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 Muscular Atrophy. Among its related pathways are Vesicle-mediated transport and COPI-independent Golgi-to-ER retrograde traffic. 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F092790 1.3 Ensembl ENCODE 12.6 -26.2 -26189 0.4 ELF3 CTCF TBL1XR1 TEAD4 RAD21 TEAD3 RELA SCRT2 ZNF143 SMC3 CENPP BICD2 PHF2 LOC101929748
GH09F092734 1.2 FANTOM5 Ensembl ENCODE 9.9 +25.6 25612 9.2 PKNOX1 ARID4B FEZF1 FOS SP3 REST NFIL3 MIER3 ZNF585B GLIS1 CENPP PHF2 ZNF484 LINC00475 BICD2 IPPK NINJ1 CARD19 GC09P092689
GH09F092561 1.1 Ensembl ENCODE 5.1 +201.5 201484 3.2 KLF1 CBX3 FEZF1 ZNF2 ZNF366 SCRT2 PRDM10 ZNF391 KLF8 ZNF639 CENPP NOL8 OGN IPPK BICD2 GC09P092539 PIR58934
GH09F092523 0.8 ENCODE 5.1 +241.1 241097 0.8 HDAC1 TAL1 ZMYM3 RARA CHAMP1 ZNF316 FOXK2 ZSCAN29 HOMEZ MAFK BICD2 OGN MIR4670 ASPN
GH09F092533 0.6 ENCODE 5.1 +228.9 228851 4.3 PKNOX1 SMARCA4 HLF ASH2L HNF4G EBF1 MAFK YY1 CENPP ASPN OMD OGN IPPK BICD2 ECM2 MIR4670
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

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
ENSR00001308503 12 2401 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF207

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

Post-translational modifications for BICD2 Gene

Other Protein References for BICD2 Gene

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for BICD2

No data available for DME Specific Peptides for BICD2 Gene

Domains & Families for BICD2 Gene

Protein Domains for BICD2 Gene

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).

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 --
GO:0034452 dynactin binding ISS --
GO:0045502 dynein binding ISS --
GO:0051959 dynein light intermediate chain binding IEA --
genes like me logo Genes that share ontologies with BICD2: view
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 Models for BICD2 Gene

MGI Knock Outs for BICD2:

Animal Model Products

miRNA for BICD2 Gene

miRTarBase miRNAs that target BICD2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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:0005635 nuclear envelope IDA 20386726
GO:0005642 annulate lamellae IDA 20386726
GO:0005643 nuclear pore IDA 20386726
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus 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:0000042 protein targeting to Golgi IMP 25962623
GO:0006810 transport IEA --
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IMP 25962623
GO:0007018 microtubule-based movement IEA --
GO:0051642 centrosome localization IMP 20386726
genes like me logo Genes that share ontologies with BICD2: view

No data available for SIGNOR curated interactions for BICD2 Gene

Transcripts for BICD2 Gene

Unigene Clusters for BICD2 Gene

Bicaudal D homolog 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for BICD2 Gene



Protein tissue co-expression partners for BICD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BICD2 Gene:

BICD2

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

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
chimpanzee
(Pan troglodytes)
Mammalia BICD2 34 35
  • 99.6 (n)
mouse
(Mus musculus)
Mammalia Bicd2 34 16 35
  • 90.11 (n)
dog
(Canis familiaris)
Mammalia BICD2 34 35
  • 89.35 (n)
rat
(Rattus norvegicus)
Mammalia Bicd2 34
  • 89.2 (n)
cow
(Bos Taurus)
Mammalia BICD2 34 35
  • 88.45 (n)
oppossum
(Monodelphis domestica)
Mammalia BICD2 35
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BICD2 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves BICD2 34 35
  • 75.39 (n)
lizard
(Anolis carolinensis)
Reptilia BICD2 35
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bicd2 34
  • 76.18 (n)
Str.5535 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.26943 34
zebrafish
(Danio rerio)
Actinopterygii BICD2 (2 of 2) 35
  • 72 (a)
OneToMany
LOC557383 34
  • 67.41 (n)
bicd2 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta BicD 36 34 35
  • 53.99 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010206 34
  • 50.58 (n)
worm
(Caenorhabditis elegans)
Secernentea bicd-1 34 35
  • 43.94 (n)
C43G2.2 36
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3535 34
Species where no ortholog for BICD2 was found in the sources mined by GeneCards:
  • 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
rs371707778 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290], Pathogenic 92,717,947(+) CGGCC(A/G)TCTGG reference, missense
rs398123028 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290], Pathogenic 92,729,157(-) GGAGT(C/T)GGCCT reference, missense
rs398123029 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290], Pathogenic 92,722,699(-) GGAGA(A/C)CATCA reference, missense
rs398123030 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290], Pathogenic 92,715,401(-) GGACG(A/G)GAAGA reference, missense
rs398123031 Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290], Pathogenic 92,719,122(-) AAAGA(A/C)GGTGA reference, missense

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

Variant ID Type Subtype PubMed ID
esv3621086 CNV loss 21293372
esv999632 CNV deletion 20482838
nsv1161883 CNV deletion 26073780
nsv6616 CNV insertion 18451855
nsv950894 CNV deletion 24416366
nsv950895 CNV deletion 24416366

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BICD2

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

Disorders for BICD2 Gene

MalaCards: The human disease database

(4) 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
muscular atrophy
  • amyotrophia nos
spinal muscular atrophy
  • kugelberg-welander disease
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. 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 22 64
  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 64
  3. 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 64
  4. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (PMID: 23664119) Peeters K. … Jordanova A. (Am. J. Hum. Genet. 2013) 3 4 64
  5. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (PMID: 23664120) Oates E.C. … Reilly M.M. (Am. J. Hum. Genet. 2013) 3 4 64

Products for BICD2 Gene

Sources for BICD2 Gene

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