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

Gene ID: 23299, updated on 7-Apr-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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Location:
9q22.31
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (92711363..92764833, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (104877924..104931411, complement)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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. In vitro characterization of the full-length human dynein-1 cargo adaptor BicD2. Fagiewicz R, et al. Structure, 2022 Nov 3. PMID 36150379
  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. Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation. Tsai MH, et al. Acta Neuropathol Commun, 2020 Jul 14. PMID 32665036, Free PMC Article
  5. The Genotypic and Phenotypic Spectrum of BICD2 Variants in Spinal Muscular Atrophy. Koboldt DC, et al. Ann Neurol, 2020 Apr. PMID 32057122

See all (88) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression.
    Title: m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. Clinical spectrum of BICD2 mutations.
    Title: Clinical spectrum of BICD2 mutations.
  10. Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.
    Title: Impairment in dynein-mediated nuclear translocation by BICD2 C-terminal truncation leads to neuronal migration defect and human brain malformation.
Submit: New GeneRIF Correction See all GeneRIFs (31)

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

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)

Genotypes

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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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_2023_10

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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