BICD2
Protein bicaudal D homolog 2
Also known as: BICD2_HUMAN, KIAA0699
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8TD16
- Gene
- BICD2
- Ensembl
- ENSG00000185963
- Chromosome
- 9
- Canonical length
- 824 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Golgi apparatus,Plasma membrane,Cytosol
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
824 residues, UniProt reviewed canonical sequence.
>Q8TD16|BICD2
1 MSAPSEEEEY ARLVMEAQPE WLRAEVKRLS HELAETTREK IQAAEYGLAV LEEKHQLKLQ
61 FEELEVDYEA IRSEMEQLKE AFGQAHTNHK KVAADGESRE ESLIQESASK EQYYVRKVLE
121 LQTELKQLRN VLTNTQSENE RLASVAQELK EINQNVEIQR GRLRDDIKEY KFREARLLQD
181 YSELEEENIS LQKQVSVLRQ NQVEFEGLKH EIKRLEEETE YLNSQLEDAI RLKEISERQL
241 EEALETLKTE REQKNSLRKE LSHYMSINDS FYTSHLHVSL DGLKFSDDAA EPNNDAEALV
301 NGFEHGGLAK LPLDNKTSTP KKEGLAPPSP SLVSDLLSEL NISEIQKLKQ QLMQMEREKA
361 GLLATLQDTQ KQLEHTRGSL SEQQEKVTRL TENLSALRRL QASKERQTAL DNEKDRDSHE
421 DGDYYEVDIN GPEILACKYH VAVAEAGELR EQLKALRSTH EAREAQHAEE KGRYEAEGQA
481 LTEKVSLLEK ASRQDRELLA RLEKELKKVS DVAGETQGSL SVAQDELVTF SEELANLYHH
541 VCMCNNETPN RVMLDYYREG QGGAGRTSPG GRTSPEARGR RSPILLPKGL LAPEAGRADG
601 GTGDSSPSPG SSLPSPLSDP RREPMNIYNL IAIIRDQIKH LQAAVDRTTE LSRQRIASQE
661 LGPAVDKDKE ALMEEILKLK SLLSTKREQI TTLRTVLKAN KQTAEVALAN LKSKYENEKA
721 MVTETMMKLR NELKALKEDA ATFSSLRAMF ATRCDEYITQ LDEMQRQLAA AEDEKKTLNS
781 LLRMAIQQKL ALTQRLELLE LDHEQTRRGR AKAAPKTKPA TPSLLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BICD2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.52
- Highest tissue expression
- 61 nTPM
Expression across tissuesHPA
Tissue
- skin: 61 nTPM
- esophagus: 45 nTPM
- vagina: 30 nTPM
- cervix: 26 nTPM
- skeletal muscle: 21 nTPM
- blood vessel: 19 nTPM
Single-cell type
- suprabasal keratinocytes: 181 nCPM
- platelets: 178 nCPM
- neutrophils: 168 nCPM
- basal keratinocytes: 143 nCPM
- esophageal apical cells: 125 nCPM
- esophageal suprabasal cells: 114 nCPM
Immune cell
- neutrophil: 7.5 nTPM
- non-classical monocyte: 6 nTPM
- eosinophil: 4.4 nTPM
- myeloid DC: 3.8 nTPM
- intermediate monocyte: 3.6 nTPM
- classical monocyte: 3.4 nTPM
Brain region
- white matter: 25 nTPM
- amygdala: 24 nTPM
- hippocampal formation: 24 nTPM
- medulla oblongata: 23 nTPM
- cerebellum: 23 nTPM
- spinal cord: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about BICD2.
Disease | AllUniProt
Conditions BICD2 is implicated in, by any mechanism.
- Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) MIM:615290
- Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B) MIM:618291
Disease | GeneticClinVar
38 pathogenic / likely-pathogenic of 960 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
- Inborn genetic diseases
- Neuronopathy, distal hereditary motor, autosomal dominant
- Spinal muscular atrophy
Disease | ImmuneIEDB
Conditions an epitope on BICD2 was assayed in.
ReferencesPubMed · IEDB
Publications for BICD2 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.
Reference: AutoantibodyPubMed
3 publications
- Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype.
2018 · Autoimmun Rev · RCR 1 · 21 citations - Bicaudal D2 autoantibodies are highly specific for systemic sclerosis.
2024 · Scand J Rheumatol · RCR 0.5 · 2 citations - DNA Hyper-methylation Associated With Schizophrenia May Lead to Increased Levels of Autoantibodies.
2024 · Schizophr Bull Open · RCR 0.2 · 2 citations
Reference: T cellIEDB
1 publication
- High-throughput peptide-MHC complex generation and kinetic screenings of TCRs with peptide-receptive HLA-A*02:01 molecules.
2019 · Sci Immunol · RCR 1 · 36 citations
Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.31
- gnomAD pLI
- 0.98
- gnomAD missense Z
- 2.21
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- centrosome localization
- microtubule anchoring at microtubule organizing center
- microtubule-based movement
- minus-end-directed organelle transport along microtubule
- mRNA transport
- protein localization to Golgi apparatus
- protein transport
- regulation of microtubule cytoskeleton organization
- retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum
Molecular functions
- cytoskeletal anchor activity
- dynactin binding
- dynein complex binding
- dynein light intermediate chain binding
- small GTPase binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of BICD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BICD2 as an antibody target. Whether an autoantibody or antibody against BICD2 could matter depends on whether native BICD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BICD2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label BICD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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