Gene Gene information from NCBI Gene database.
Entrez ID 23299
Gene name BICD cargo adaptor 2
Gene symbol BICD2
Synonyms (NCBI Gene)
SMALED2SMALED2ASMALED2BbA526D8.1
Chromosome 9
Chromosome location 9q22.31
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
SNPs SNP information provided by dbSNP.
22
SNP ID Visualize variation Clinical significance Consequence
rs141414055 G>A,C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, missense variant
rs192669216 G>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs371707778 G>A Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs398123028 G>A Pathogenic, not-provided Missense variant, coding sequence variant
rs398123029 T>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
543
miRTarBase ID miRNA Experiments Reference
MIRT023191 hsa-miR-124-3p Microarray 18668037
MIRT028312 hsa-miR-32-5p Sequencing 20371350
MIRT041505 hsa-miR-193b-3p CLASH 23622248
MIRT039848 hsa-miR-615-3p CLASH 23622248
MIRT039040 hsa-miR-766-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
48
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16417406, 20386726, 23664119, 24482476, 28514442, 32296183
GO:0005634 Component Nucleus IEA
GO:0005635 Component Nuclear envelope IDA 20386726
GO:0005635 Component Nuclear envelope IEA
GO:0005642 Component Annulate lamellae IDA 20386726
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609797 17208 ENSG00000185963
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TD16
Protein name Protein bicaudal D homolog 2 (Bic-D 2)
Protein 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 dynac
PDB 6OFP , 6PSE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09730 BicD 83 801 Microtubule-associated protein Bicaudal-D Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
MSAPSEEEEYARLVMEAQPEWLRAEVKRLSHELAETTREKIQAAEYGLAVLEEKHQLKLQ
FEELEVDYEAIRSEMEQLKEAFGQAHTNHKKVAADGESREESLIQESASKEQYYVRKVLE
LQTELKQLRNVLTNTQSENERLASVAQELKEINQNVEIQRGRLRDDIKEYKFREARLLQD
YSELEEENISLQKQVSVLRQNQVEFEGLKHEIKRLEEETEYLNSQLEDAIRLKEISERQL
EEALETLKTEREQKNSLRKELSHYMSINDSFYTSHLHVSLDGLKFSDDAAEPNNDAEALV
NGFEHGGLAKLPLDNKTSTPKKEGLAPPSPSLVSDLLSELNISEIQKLKQQLMQMEREKA
GLLATLQDTQKQLEHTRGSLSEQQEKVTRLTENLSALRRLQASKERQTALDNEKDRDSHE
DGDYYEVDINGPEILACKYHVAVAEAGELREQLKALRSTHEAREAQHAEEKGRYEAEGQA
LTEKVSLLEKASRQDRELLARLEKELKKVSDVAGETQGSLSVAQDELVTFSEELANLYHH
VCMCNNETPNRVMLDYYREGQGGAGRTSPGGRTSPEARGRRSPILLPKGLLAPEAGRADG
GTGDSSPSPGSSLPSPLSDPRREPMNIYNLIAIIRDQIKHLQAAVDRTTELSRQRIASQE
LGPAVDKDKEALMEEILKLKSLLSTKREQITTLRTVLKANKQTAEVALANLKSKYENEKA
MVTETMMKLRNELKALKEDAATFSSLRAMFATRCDEYITQLDEMQRQLAAAEDEKKTLNS
LLRMAIQQKLALTQRLELLEL
DHEQTRRGRAKAAPKTKPATPSL
Sequence length 824
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Viral life cycle - HIV-1   COPI-independent Golgi-to-ER retrograde traffic
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
833
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Likely pathogenic; Pathogenic rs376312313, rs2131504104, rs797045412, rs1554705383, rs2490453128, rs1853488507, rs1587671674, rs1587668077, rs1587668748, rs1587668769, rs398123028, rs371707778, rs398123030, rs1263279945, rs1853349816 RCV001318183
RCV001883381
RCV000258929
RCV003325417
RCV003152991
RCV003742355
RCV003989072
RCV003581710
RCV000802975
RCV000801806
RCV000805633
RCV000049274
RCV000049275
RCV000049277
RCV000995709
RCV001069097
RCV001262508
Autosomal dominant hereditary axonal motor and sensory neuropathy Likely pathogenic; Pathogenic rs797045412 RCV003311712
Distal myopathy Pathogenic rs398123028 RCV004776427
Neuronopathy, distal hereditary motor, autosomal dominant Pathogenic; Likely pathogenic rs1587668798, rs1587671674, rs398123028 RCV000789080
RCV000789079
RCV000789078
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs41273374 RCV005902285
Amyotrophic lateral sclerosis Uncertain significance rs775633720 RCV005055405
Autism spectrum disorder Uncertain significance rs2490443763 RCV003127388
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures Uncertain significance rs1445458188 RCV001825324
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32360590
Allergic Fungal Sinusitis Associate 29253858
Amyotrophic Lateral Sclerosis Associate 37849306
Arthrogryposis Associate 25497877, 28635954, 30054298
Atrophy Associate 30054298
Brain Diseases Associate 36930595
Breast Neoplasms Associate 31965981
Cardiomegaly Associate 33122805
Central Nervous System Vascular Malformations Associate 35896821, 36930595
Cerebellar Hypoplasia Associate 35896821