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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
External Ids for BICD2 Gene
- HGNC: 17208
- NCBI Entrez Gene: 23299
- Ensembl: ENSG00000185963
- OMIM®: 609797
- UniProtKB/Swiss-Prot: Q8TD16
Previous GeneCards Identifiers for BICD2 Gene
- GC09M086300
- GC09M087201
- GC09M088772
- GC09M090815
- GC09M090816
- GC09M092553
- GC09M094513
- GC09M095473
- GC09M065151
Summaries 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 Vesicle-mediated transport and Golgi-to-ER retrograde 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).
Additional gene information for BICD2 Gene
- HGNC (17208)
- NCBI Entrez Gene (23299)
- Ensembl (ENSG00000185963)
- OMIM® (609797)
- UniProtKB/Swiss-Prot (Q8TD16)
- Open Targets Platform(ENSG00000185963)
- Monarch Initiative
- Search for BICD2 at DataMed
- Search for BICD2 at HumanCyc
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
- 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
Latest Assembly
- chr9:92,711,363-92,764,841
- (GRCh38/hg38)
- Size:
- 53,479 bases
- Orientation:
- Minus strand
Previous Assembly
- chr9:95,473,645-95,527,115
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 53,471 bases
- Orientation:
- Minus strand
- chr9:95,473,645-95,527,094
- (GRCh37/hg19 by Ensembl)
- 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:
-
- 9q22.31 by HGNC
- 9q22.31 by Entrez Gene
- 9q22.31 by Ensembl
BICD2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for BICD2 Gene
Post-translational modifications for BICD2 Gene
- Phosphorylated by NEK9 in vitro.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for BICD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- GeneTex Anti-BICD2 antibody and Anti-BICD2 antibody [GT10811]
-
Custom Antibody ServicesOriGene Antibodies for BICD2
- Novus Biologicals Antibodies for BICD2
-
Abcam antibodies for BICD2
- Invitrogen Antibodies for BICD2 (AFLGC-BICD2)
-
Biorbyt antibodies for BICD2
-
Boster Bio Antibodies for BICD2
-
Custom Antibody ServicesProSci Antibodies for BICD2
-
Santa Cruz Biotechnology (SCBT) Antibodies for BICD2
Protein products for research
-
OriGene Purified Proteins for BICD2
- Search Origene for MassSpec and Protein Over-expression Lysates for BICD2
- Origene Custom Protein Services for BICD2
- Novus Biologicals proteins for BICD2
Assay products for research
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
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
Q8TD16UniProtKB/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.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16417406 |
| GO:0008093 | cytoskeletal adaptor activity | IEA | -- |
| GO:0031267 | small GTPase binding | ISS | -- |
| GO:0034452 | dynactin binding | IBA,ISS | -- |
| GO:0051959 | dynein light intermediate chain binding | IBA | 21873635 |
Phenotypes for BICD2 Gene
- MGI mutant phenotypes for BICD2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for BICD2:
-
- no effect
- Decreased viability in esophageal squamous lineage
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Decreased HIV-LTR-beta-galactosidase protein expression
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Negative genetic interaction between BLM-/- and BLM+/+
Animal Models for BICD2 Gene
- MGI Knock Outs for BICD2:
-
- Bicd2 Bicd2<tm1.1Hgrd>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BICD2 - Starting at $85 >
- * BICD2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BICD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BICD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BICD2
miRNA for BICD2 Gene
- miRTarBase miRNAs that target BICD2
-
- mmu-miR-26a-5p (MIRT011356)
- mmu-miR-149-5p (MIRT014675)
- mmu-miR-124-3p (MIRT015919)
- hsa-miR-124-3p (MIRT023191)
- hsa-miR-32-5p (MIRT028312)
- hsa-miR-1301-3p (MIRT035982)
- hsa-miR-766-3p (MIRT039040)
- hsa-miR-615-3p (MIRT039848)
- hsa-miR-193b-3p (MIRT041505)
- hsa-miR-519c-3p (MIRT124812)
- hsa-miR-519b-3p (MIRT124813)
- hsa-miR-519a-3p (MIRT124815)
- hsa-miR-1183 (MIRT259184)
- hsa-miR-548c-3p (MIRT483700)
- hsa-miR-505-3p (MIRT488704)
- hsa-miR-6125 (MIRT488705)
- hsa-miR-1289 (MIRT488706)
- hsa-miR-3162-3p (MIRT488707)
- hsa-miR-2114-5p (MIRT488708)
- hsa-miR-4433b-3p (MIRT488709)
- hsa-miR-570-5p (MIRT488710)
- hsa-miR-548ba (MIRT488711)
- hsa-miR-548ai (MIRT488712)
- hsa-miR-548ag (MIRT488713)
- hsa-miR-191-5p (MIRT488714)
- hsa-miR-200a-3p (MIRT488715)
- hsa-miR-141-3p (MIRT488716)
- hsa-miR-576-5p (MIRT549186)
- hsa-miR-4263 (MIRT549187)
- hsa-miR-3117-5p (MIRT559229)
- hsa-miR-6730-3p (MIRT559230)
- hsa-miR-1324 (MIRT559231)
- hsa-miR-510-5p (MIRT559232)
- hsa-miR-512-5p (MIRT559233)
- hsa-miR-5700 (MIRT559234)
- hsa-miR-101-3p (MIRT559235)
- hsa-miR-144-3p (MIRT559236)
- hsa-miR-194-5p (MIRT568266)
- hsa-miR-511-3p (MIRT568267)
- hsa-miR-3133 (MIRT568268)
- hsa-miR-548t-5p (MIRT568269)
- hsa-miR-548az-5p (MIRT568270)
- hsa-miR-20b-5p (MIRT568271)
- hsa-miR-519d-3p (MIRT568272)
- hsa-miR-93-5p (MIRT568273)
- hsa-miR-20a-5p (MIRT568274)
- hsa-miR-17-5p (MIRT568275)
- hsa-miR-106b-5p (MIRT568276)
- hsa-miR-106a-5p (MIRT568277)
- hsa-miR-526b-3p (MIRT568278)
- mmu-miR-320-3p (MIRT594521)
- mmu-miR-208a-5p (MIRT594522)
- mmu-miR-1894-5p (MIRT594523)
- mmu-miR-5127 (MIRT594524)
- mmu-miR-532-3p (MIRT594525)
- mmu-miR-150-5p (MIRT594526)
- hsa-miR-939-5p (MIRT606795)
- hsa-miR-628-5p (MIRT606796)
- hsa-miR-6765-5p (MIRT606797)
- hsa-miR-6778-5p (MIRT606798)
- hsa-miR-1233-5p (MIRT606799)
- hsa-miR-920 (MIRT606800)
- hsa-miR-6726-5p (MIRT606801)
- hsa-miR-5591-5p (MIRT606802)
- hsa-miR-4300 (MIRT606803)
- hsa-miR-6090 (MIRT606804)
- hsa-miR-6827-5p (MIRT606805)
- hsa-miR-7160-5p (MIRT606806)
- hsa-miR-548v (MIRT606807)
- hsa-miR-6804-3p (MIRT606808)
- hsa-miR-6087 (MIRT606809)
- hsa-miR-3197 (MIRT606810)
- hsa-miR-3160-3p (MIRT606811)
- hsa-miR-769-5p (MIRT606812)
- hsa-miR-4786-5p (MIRT606813)
- hsa-miR-4649-3p (MIRT606814)
- hsa-miR-4329 (MIRT606815)
- hsa-miR-6786-5p (MIRT606816)
- hsa-miR-4324 (MIRT606817)
- hsa-miR-5690 (MIRT606818)
- hsa-miR-3622b-3p (MIRT606819)
- hsa-miR-3622a-3p (MIRT606820)
- hsa-miR-6502-3p (MIRT606821)
- hsa-miR-4700-3p (MIRT606822)
- hsa-miR-4669 (MIRT717861)
- hsa-miR-3657 (MIRT717862)
- hsa-miR-3140-5p (MIRT717863)
- hsa-miR-4275 (MIRT717864)
- hsa-miR-216a-5p (MIRT717865)
- hsa-miR-92b-3p (MIRT728204)
- hsa-miR-92a-3p (MIRT728205)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BICD2
- Browse OriGene Inhibitory RNA Products For BICD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BICD2
Clone products for research
- Applied Biological Materials (abm): Clones for BICD2 - Starting at $45 >
- * BICD2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210810
- MG221687
- MG221959
- MR210810
- MR210810L3
- MR210810L4
- MR221687
- MR221687L3
- MR221687L4
- MR221959
- MR221959L3
- MR221959L4
- RC209960
- RC209960L1
- RC209960L2
- RC209960L3
- RC209960L4
- RC221945
- RC221945L3
- RC221945L4
- RG209960
- RG221945
- RR200101
- RR200101L3
- RR200101L4
- RR200102
- RR200102L3
- RR200102L4
- MR210810L3V
- MR210810L4V
- MR221687L3V
- MR221687L4V
- MR221959L3V
- MR221959L4V
- RC209960L1V
- RC209960L2V
- RC209960L3V
- RC209960L4V
- RC221945L3V
- RC221945L4V
- RR200101L3V
- RR200101L4V
- RR200102L3V
- RR200102L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BICD2
- Addgene plasmids for BICD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BICD2
Cell Lines for research
-
Horizon Cell Lines 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}.
| 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 |
- Golgi apparatus (3)
- Cytosol (2)
- Plasma membrane (1)
| 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 |
Pathways & Interactions for BICD2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Golgi-to-ER retrograde transport | ||
| 2 | Vesicle-mediated transport | ||
| 3 | COPI-independent Golgi-to-ER retrograde traffic | ||
Pathways by source for BICD2 Gene
Interacting Proteins for BICD2 Gene
Selected Interacting proteins:
Q8TD16-BICD2_HUMAN
ENSP00000349351
for BICD2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for BICD2
| 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 | IBA,IMP | 25962623 |
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 :
-
- ENST00000356884 6448 nts (view in UCSC)
- ENST00000375512 4636 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for BICD2 - Starting at $85 >
- * BICD2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for BICD2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for BICD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for BICD2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for BICD2
- Browse OriGene Inhibitory RNA Products For BICD2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BICD2
Clone products for research
- Applied Biological Materials (abm): Clones for BICD2 - Starting at $45 >
- * BICD2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG210810
- MG221687
- MG221959
- MR210810
- MR210810L3
- MR210810L4
- MR221687
- MR221687L3
- MR221687L4
- MR221959
- MR221959L3
- MR221959L4
- RC209960
- RC209960L1
- RC209960L2
- RC209960L3
- RC209960L4
- RC221945
- RC221945L3
- RC221945L4
- RG209960
- RG221945
- RR200101
- RR200101L3
- RR200101L4
- RR200102
- RR200102L3
- RR200102L4
- MR210810L3V
- MR210810L4V
- MR221687L3V
- MR221687L4V
- MR221959L3V
- MR221959L4V
- RC209960L1V
- RC209960L2V
- RC209960L3V
- RC209960L4V
- RC221945L3V
- RC221945L4V
- RR200101L3V
- RR200101L4V
- RR200102L3V
- RR200102L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for BICD2
- Addgene plasmids for BICD2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for BICD2
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Spinal Cord (Nervous System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for BICD2
SOURCE GeneReport for Unigene cluster for BICD2 Gene:
Hs.436939mRNA 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)
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
Primer products for research
-
OriGene qPCR primer pairs for BICD2
-
OriGene qPCR primer pairs and template standards for BICD2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | BICD2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Bicd2 30 17 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | BICD2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Bicd2 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | BICD2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | BICD2 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | BICD2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | BICD2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | BICD2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | bicd2 30 |
|
||
| Str.5535 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.26943 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | BICD2 (2 of 2) 31 |
|
OneToMany | |
| LOC557383 30 |
|
||||
| bicd2 31 |
|
OneToMany | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | BicD 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010206 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | bicd-1 30 31 |
|
OneToMany | |
| C43G2.2 32 |
|
|
|||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
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 |
|---|---|---|---|---|---|
| 834774 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,720,491(-) |
C/T NM_001003800.2(BICD2):c.871G>A (p.Glu291Lys) |
MISSENSE | |
| 835746 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,719,296(-) |
C/T NM_001003800.2(BICD2):c.1349G>A (p.Arg450His) |
MISSENSE | |
| 837169 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,719,159(-) |
G/A NM_001003800.2(BICD2):c.1486C>T (p.Arg496Cys) |
MISSENSE | |
| 838404 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,764,560(-) |
T/G NM_001003800.2(BICD2):c.185A>C (p.Glu62Ala) |
MISSENSE | |
| 840065 | Uncertain Significance: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | 92,719,551(-) |
G/A NM_001003800.2(BICD2):c.1094C>T (p.Thr365Met) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BICD2 Gene
Disorders for BICD2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinal muscular atrophy, lower extremity-predominant, 2a, childhood onset, autosomal dominant |
|
|
| spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant |
|
|
| autosomal dominant childhood-onset proximal spinal muscular atrophy |
|
|
| autosomal dominant distal hereditary motor neuronopathy |
|
|
| muscular atrophy |
|
|
Search BICD2 in MalaCards
View complete list of genes associated with diseases
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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for BICD2
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for BICD2 Gene
Publications for BICD2 Gene
- 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 74
- Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. (PMID: 23664120) Oates EC … Reilly MM (American journal of human genetics 2013) 3 4 74
- Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. (PMID: 23664119) Peeters K … Jordanova A (American journal of human genetics 2013) 3 4 74
- Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. (PMID: 23664116) Neveling K … Wirth B (American journal of human genetics 2013) 3 4 74
- 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
ExternalLinks
Products for BICD2 Gene
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Sources for BICD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
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- (55) TGDB
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- (57) Abcam
- (58) Novus Biologicals
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- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
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- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
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- (162) GtRNAdb
- (163) LncBase
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