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    BICD2 BICD cargo adaptor 2 [ Homo sapiens (human) ]

    Gene ID: 23299, updated on 10-Dec-2024

    Summary

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    Official Symbol
    BICD2provided by HGNC
    Official Full Name
    BICD cargo adaptor 2provided by HGNC
    Primary source
    HGNC:HGNC:17208
    See related
    Ensembl:ENSG00000185963 MIM:609797; AllianceGenome:HGNC:17208
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SMALED2; SMALED2A; SMALED2B; bA526D8.1
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 24.1), esophagus (RPKM 14.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BICD2 in Genome Data Viewer
    Location:
    9q22.31
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92711363..92764833, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104877924..104931411, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (95473645..95527115, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987095 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28597 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28598 Neighboring gene Sharpr-MPRA regulatory region 2132 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109781 Neighboring gene ribosomal protein L21 pseudogene 86 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109803 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_109806 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28599 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95486509-95487365 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95487366-95488221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95490871-95491710 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95497030-95497629 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28601 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95509749-95510500 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95511252-95511934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28602 Neighboring gene MPRA-validated peak7293 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20033 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95560348-95560848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:95560849-95561349 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28604 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:95563131-95563631 Neighboring gene uncharacterized LOC101929748 Neighboring gene translation initiation factor IF-2-like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:95569982-95570872 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20034 Neighboring gene ankyrin repeat domain 19, pseudogene Neighboring gene RNA, U6 small nuclear 714, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants. Unger A, et al. Int J Mol Sci, 2023 Apr 6. PMID 37047781, Free PMC Article
    2. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2. Rossor AM, et al. Brain, 2015 Feb. PMID 25497877, Free PMC Article
    3. Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy. Marchionni E, et al. Am J Med Genet A, 2021 May. PMID 33547725
    4. Autosomal dominant spinal muscular atrophy with lower extremity predominance: A recognizable phenotype of BICD2 mutations. Rudnik-Schöneborn S, et al. Muscle Nerve, 2016 Sep. PMID 26998597
    5. Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Oates EC, et al. Am J Hum Genet, 2013 Jun 6. PMID 23664120, Free PMC Article

    See all (102) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Molecular mechanism for recognition of the cargo adapter Rab6[GTP] by the dynein adapter BicD2.
      Title: Molecular mechanism for recognition of the cargo adapter Rab6(GTP) by the dynein adapter BicD2.
    2. m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression.
      Title: m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression.
    3. Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.
      Title: Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants.
    4. Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.
      Title: Role of Nesprin-2 and RanBP2 in BICD2-associated brain developmental disorders.
    5. In vitro characterization of the full-length human dynein-1 cargo adaptor BicD2.
      Title: In vitro characterization of the full-length human dynein-1 cargo adaptor BicD2.
    6. Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy.
      Title: Identification and functional characterization of BICD2 as a candidate disease gene in an consanguineous family with dilated cardiomyopathy.
    7. Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2-knockdown mice.
      Title: Elevated BICD2 DNA methylation in blood of major depressive disorder patients and reduction of depressive-like behaviors in hippocampal Bicd2-knockdown mice.
    8. circBICD2 targets miR-149-5p/IGF2BP1 axis to regulate oral squamous cell carcinoma progression.
      Title: circBICD2 targets miR-149-5p/IGF2BP1 axis to regulate oral squamous cell carcinoma progression.
    9. Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
      Title: Fetal early motor neuron disruption and prenatal molecular diagnosis in a severe BICD2-opathy.
    10. Clinical spectrum of BICD2 mutations.
      Title: Clinical spectrum of BICD2 mutations.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
    MedGen: C4747715 OMIM: 615290 GeneReviews: Not available
    		not available
    Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
    MedGen: C4749003 OMIM: 618291 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of bicaudal D homolog 2 (BICD2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with bicaudal D homolog 2 (BICD2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0699

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytoskeletal anchor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables dynactin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynactin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables dynein complex binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables dynein complex binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in centrosome localization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in microtubule anchoring at microtubule organizing center IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in microtubule anchoring at microtubule organizing center ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in minus-end-directed organelle transport along microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to Golgi apparatus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of microtubule cytoskeleton organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of microtubule cytoskeleton organization IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in annulate lamellae IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasm IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of nuclear pore IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    protein bicaudal D homolog 2
    Names
    bic-D 2
    bicaudal D homolog 2
    coiled-coil protein BICD2
    cytoskeleton-like bicaudal D protein homolog 2
    homolog of Drosophila bicaudal D

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033908.1 RefSeqGene

      Range
      4969..58439
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001003800.2 → NP_001003800.1  protein bicaudal D homolog 2 isoform 1

      See identical proteins and their annotated locations for NP_001003800.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL136981, BC004296, BC010428, BC073970
      Consensus CDS
      CCDS35064.1
      UniProtKB/Swiss-Prot
      Q8TD16
      UniProtKB/TrEMBL
      Q96FU2
      Related
      ENSP00000349351.6, ENST00000356884.11
      Conserved Domains (1) summary
      pfam09730
      Location:83 → 801
      BicD; Microtubule-associated protein Bicaudal-D

    2. NM_015250.4 → NP_056065.1  protein bicaudal D homolog 2 isoform 2

      See identical proteins and their annotated locations for NP_056065.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes the shorter isoform (2). This variant includes an alternate intron, compared to variant 1, that causes a frameshift. The resulting protein (isoform 2) has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL136981, AY052562, BC004296, BC010428
      Consensus CDS
      CCDS6700.1
      UniProtKB/Swiss-Prot
      O75181, Q5TBQ2, Q5TBQ3, Q8TD16, Q96LH2, Q9BT84, Q9H561
      Related
      ENSP00000364662.3, ENST00000375512.3
      Conserved Domains (3) summary
      pfam09730
      Location:83 → 801
      BicD; Microtubule-associated protein Bicaudal-D
      cl19219
      Location:55 → 169
      DUF342; Protein of unknown function (DUF342)
      cl19252
      Location:178 → 230
      MreC; rod shape-determining protein MreC

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      92711363..92764833 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017014551.2 → XP_016870040.1  protein bicaudal D homolog 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      104877924..104931411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054362534.1 → XP_054218509.1  protein bicaudal D homolog 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TD16.1 GenPept UniProtKB/Swiss-Prot:Q8TD16

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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