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] See more...

Aliases for BICD2 Gene

Aliases for BICD2 Gene

  • BICD Cargo Adaptor 2 2 3 5
  • Protein Bicaudal D Homolog 2 3 4
  • KIAA0699 2 4
  • 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
  • Coiled-Coil Protein BICD2 3
  • Bicaudal D Homolog 2 3
  • BA526D8.1 3
  • SMALED2A 3
  • SMALED2B 3
  • SMALED2 3
  • BICD2 5

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, 2A, Childhood Onset, Autosomal Dominant and Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant. Among its related pathways are Golgi-to-ER retrograde transport and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include Rab GTPase binding. An important paralog of this gene is BICD1.

UniProtKB/Swiss-Prot Summary for BICD2 Gene

  • Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (By similarity). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport via its interaction with RAB6A and recruitment of the dynein-dynactin motor complex (PubMed:25962623). Contributes to nuclear and centrosomal positioning prior to mitotic entry through regulation of both dynein and kinesin-1. During G2 phase of the cell cycle, associates with RANBP2 at the nuclear pores and recruits dynein and dynactin to the nuclear envelope to ensure proper positioning of the nucleus relative to centrosomes prior to the onset of mitosis (By similarity).

Gene Wiki entry for BICD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for BICD2 Gene

Genomics for BICD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for BICD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J092759 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.6 1648 6.8 SP1 CREB1 CTCF HNRNPL PRDM10 ZNF629 REST SIX5 IKZF1 ZNF692 BICD2 lnc-CENPP-18 PHF2 CENPP ZNF484 LINC00475 IPPK ECM2 RF00017-7713
GH09J092790 Enhancer 0.9 Ensembl ENCODE 12.6 -26.0 -25960 1.2 CTCF TEAD4 STAT3 ZNF143 RXRB REST RAD21 IRF2 TRIM22 SCRT2 CENPP BICD2 IPPK PHF2 RF00017-7714 lnc-FGD3-1 ZNF484
GH09J092533 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.1 +228.9 228879 4.3 SP1 PKNOX1 CEBPB FOXA2 ASH2L YY1 JUND GATA3 SPI1 MAFK ECM2 CENPP ASPN OMD OGN IPPK BICD2 piR-55705-056
GH09J092734 Enhancer 0.6 ENCODE dbSUPER 9.9 +28.9 28941 2.5 RCOR1 TOE1 ZNF579 NR4A1 CENPP BICD2 PHF2 piR-38423-072 piR-37501 IPPK
GH09J092742 Enhancer 0.4 dbSUPER 14.1 +21.3 21308 2.1 SPI1 IKZF1 ZMYM3 BICD2 CENPP IPPK piR-38423-072 piR-37501
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BICD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for BICD2

Top Transcription factor binding sites by QIAGEN in the BICD2 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • CP1C
  • NF-Y
  • NF-YA
  • NF-YB
  • NF-YC

Genomic Locations for BICD2 Gene

Genomic Locations for BICD2 Gene
chr9:92,711,363-92,764,841
(GRCh38/hg38)
Size:
53,479 bases
Orientation:
Minus strand
chr9:95,473,645-95,527,094
(GRCh37/hg19)
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 RAB6A (PubMed:23664119). Interacts with NEK9 (PubMed:11864968). Interacts with DNAI1 (PubMed:23664119, PubMed:23664120). Interacts with DYNC1H1 (PubMed:25512093). Interacts with RANBP2 (PubMed:20386726). Forms a complex with dynein and dynactin. Binds preferentially to tyrosinated microtubules than to detyrosinated microtubules. Interacts with DYNLL1, DYNC1I2; DCTN1, DCTN2 and KIF5A (By similarity). Interacts with KIF1C (PubMed:24482476).
    SequenceCaution:
    • Sequence=BAA31674.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Due to intron retention.

    Three dimensional structures from OCA and Proteopedia for BICD2 Gene

    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

No data available for DME Specific Peptides for BICD2 Gene

Domains & Families for BICD2 Gene

Gene Families for BICD2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BICD2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BICD2 Gene

GenScript: Design optimal peptide antigens:
  • Protein bicaudal D homolog 2 (BICD2_HUMAN)
  • BICD2 protein (Q96FU2_HUMAN)

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

Function for BICD2 Gene

Molecular function for BICD2 Gene

UniProtKB/Swiss-Prot Function:
Acts as an adapter protein linking the dynein motor complex to various cargos and converts dynein from a non-processive to a highly processive motor in the presence of dynactin. Facilitates and stabilizes the interaction between dynein and dynactin and activates dynein processivity (the ability to move along a microtubule for a long distance without falling off the track) (By similarity). Facilitates the binding of RAB6A to the Golgi by stabilizing its GTP-bound form. Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport via its interaction with RAB6A and recruitment of the dynein-dynactin motor complex (PubMed:25962623). Contributes to nuclear and centrosomal positioning prior to mitotic entry through regulation of both dynein and kinesin-1. During G2 phase of the cell cycle, associates with RANBP2 at the nuclear pores and recruits dynein and dynactin to the nuclear envelope to ensure proper positioning of the nucleus relative to centrosomes prior to the onset of mitosis (By similarity).

Phenotypes From GWAS Catalog for BICD2 Gene

Gene Ontology (GO) - Molecular Function for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16417406
GO:0008093 cytoskeletal adaptor activity IEA --
GO:0017137 Rab GTPase binding ISS --
GO:0034452 dynactin binding IBA,ISS --
GO:0051959 dynein light intermediate chain binding IBA 21873635
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

CRISPR Products

miRNA for BICD2 Gene

miRTarBase miRNAs that target BICD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BICD2

Clone Products

  • Addgene plasmids for BICD2

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. Cytoplasm. Nucleus envelope. Nucleus, nuclear pore complex. Note=In interphase cells mainly localizes to the Golgi complex and colocalizes with dynactin at microtubule plus ends (By similarity). Localizes to the nuclear envelope and cytoplasmic stacks of nuclear pore complex known as annulate lamellae in a RANBP2-dependent manner during G2 phase of the cell cycle (PubMed:20386726). {ECO:0000250 UniProtKB:Q921C5, ECO:0000269 PubMed:11864968, ECO:0000269 PubMed:20386726}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BICD2 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
plasma membrane 4
cytoskeleton 4
endosome 2
extracellular 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Cytosol (2)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 20386726
GO:0005642 annulate lamellae IDA 20386726
GO:0005643 nuclear pore IEA,IDA 20386726
GO:0005737 cytoplasm IEA,IMP 17139249
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

SIGNOR curated interactions for BICD2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for BICD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006890 retrograde vesicle-mediated transport, Golgi to ER IBA,IMP 25962623
GO:0007018 microtubule-based movement IBA 21873635
GO:0015031 protein transport IEA --
GO:0033365 protein localization to organelle IBA 21873635
GO:0034067 protein localization to Golgi apparatus IMP 25962623
genes like me logo Genes that share ontologies with BICD2: view

Drugs & Compounds for BICD2 Gene

No Compound Related Data Available

Transcripts for BICD2 Gene

mRNA/cDNA for BICD2 Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BICD2

Clone Products

  • Addgene plasmids for BICD2

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

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, MaxQB, and MOPED for BICD2 Gene



Protein tissue co-expression partners for BICD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for BICD2 Gene

  • Nervous system(4.6)
  • Skin(4.5)
  • Liver(4.3)
  • Pancreas(4.1)
  • Lung(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BICD2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • head
Limb:
  • digit
  • foot
  • lower limb
  • toe
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns 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 30 31
  • 99.6 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Bicd2 30 17 31
  • 90.11 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia BICD2 30 31
  • 89.35 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Bicd2 30
  • 89.2 (n)
Cow
(Bos Taurus)
Mammalia BICD2 30 31
  • 88.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia BICD2 31
  • 85 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia BICD2 31
  • 80 (a)
OneToOne
Chicken
(Gallus gallus)
Aves BICD2 30 31
  • 75.39 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia BICD2 31
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia bicd2 30
  • 76.18 (n)
Str.5535 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.26943 30
Zebrafish
(Danio rerio)
Actinopterygii BICD2 (2 of 2) 31
  • 72 (a)
OneToMany
LOC557383 30
  • 67.41 (n)
bicd2 31
  • 63 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta BicD 30 31 32
  • 53.99 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010206 30
  • 50.58 (n)
Worm
(Caenorhabditis elegans)
Secernentea bicd-1 30 31
  • 43.94 (n)
OneToMany
C43G2.2 32
  • 30 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 29 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3535 30
Species where no ortholog for BICD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for BICD2: view image

Paralogs for BICD2 Gene

Paralogs for BICD2 Gene

(1) SIMAP similar genes for BICD2 Gene using alignment to 2 proteins:

  • BICD2_HUMAN
  • Q96FU2_HUMAN
genes like me logo Genes that share paralogs with BICD2: view

Variants for BICD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for BICD2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
637065 Pathogenic: Autosomal dominant distal hereditary motor neuropathy 92,722,697(-) T/A MISSENSE_VARIANT
637066 Pathogenic: Autosomal dominant distal hereditary motor neuropathy 92,719,041(-) G/A MISSENSE_VARIANT
637067 Pathogenic: Myopathy; Pelvic girdle muscle weakness; Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant; Autosomal dominant distal hereditary motor neuropathy 92,717,816(-) G/A MISSENSE_VARIANT
638377 Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 92,720,659(-) T/G MISSENSE_VARIANT
639270 Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant 92,719,582(-) T/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for BICD2 Gene

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)

Additional Variant Information for BICD2 Gene

Human Gene Mutation Database (HGMD)
BICD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BICD2

SNP Genotyping and Copy Number Assay Products

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

Disorders for BICD2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for BICD2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

UniProtKB/Swiss-Prot

BICD2_HUMAN
  • Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [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, ECO:0000269 PubMed:28635954}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) [MIM:618291]: An autosomal dominant neuromuscular disorder characterized by decreased fetal movements, fractures in utero, severe congenital joint contractures, arthrogryposis multiplex congenita, severe hypotonia, muscle atrophy, and respiratory insufficiency and failure due to muscle weakness. Some patients may have dysmorphic facial features and/or abnormalities on brain imaging. Death in early childhood may occur. {ECO:0000269 PubMed:27751653, ECO:0000269 PubMed:28635954, ECO:0000269 PubMed:30054298}. 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

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 PM … Virca GD (The Journal of biological chemistry 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 research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4
  3. Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. (PMID: 28635954) Storbeck M … Wirth B (European journal of human genetics : EJHG 2017) 3 4
  4. 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 (Biochimica et biophysica acta 2015) 3 4
  5. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. (PMID: 24482476) Novarino G … Gleeson JG (Science (New York, N.Y.) 2014) 3 4

Products for BICD2 Gene

Sources for BICD2 Gene