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Entry version 155 (18 Sep 2019)
Sequence version 1 (01 Jun 2002)
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Protein

Protein bicaudal D homolog 2

Gene

BICD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processmRNA transport, Protein transport, Translocation, Transport

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic

SIGNOR Signaling Network Open Resource

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SIGNORi
Q8TD16

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein bicaudal D homolog 2
Short name:
Bic-D 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BICD2
Synonyms:KIAA0699
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 9

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:17208 BICD2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
609797 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8TD16

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Golgi apparatus, Nuclear pore complex, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_070112107S → L in SMALED2A; causes Golgi fragmentation; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein. 3 PublicationsCorresponds to variant dbSNP:rs398123028EnsemblClinVar.1
Natural variantiVAR_070113188N → T in SMALED2A; causes Golgi fragmentation. 1 PublicationCorresponds to variant dbSNP:rs398123029EnsemblClinVar.1
Natural variantiVAR_070114189I → F in SMALED2A. 1 Publication1
Natural variantiVAR_070115501R → P in SMALED2A; the mutation causes increased interaction with dynein; the mutant protein accumulates abnormally in the perinuclear region where it forms ring-like structures that colocalize with RAB6A. 1 PublicationCorresponds to variant dbSNP:rs398123032EnsemblClinVar.1
Natural variantiVAR_070116508K → T in SMALED2A. 1 PublicationCorresponds to variant dbSNP:rs398123031EnsemblClinVar.1
Natural variantiVAR_070117703T → M in SMALED2A; causes Golgi fragmentation. 2 PublicationsCorresponds to variant dbSNP:rs371707778EnsemblClinVar.1
Natural variantiVAR_070118774E → G in SMALED2A; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein. 1 PublicationCorresponds to variant dbSNP:rs398123030EnsemblClinVar.1
Spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant (SMALED2B)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081854194Q → R in SMALED2B. 1 Publication1
Natural variantiVAR_081855542C → W in SMALED2B. 1 Publication1
Natural variantiVAR_081856546Missing in SMALED2B. 1 Publication1
Natural variantiVAR_081857694R → C in SMALED2B. 2 Publications1

Keywords - Diseasei

Disease mutation, Neurodegeneration

Organism-specific databases

DisGeNET

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DisGeNETi
23299

MalaCards human disease database

More...
MalaCardsi
BICD2
MIMi615290 phenotype
618291 phenotype

Open Targets

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OpenTargetsi
ENSG00000185963

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134969018

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BICD2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
34098604

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002053592 – 824Protein bicaudal D homolog 2Add BLAST823

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylserineCombined sources1
Modified residuei190PhosphoserineCombined sources1
Modified residuei224PhosphoserineCombined sources1
Modified residuei318PhosphoserineCombined sources1
Modified residuei319PhosphothreonineCombined sources1
Modified residuei343PhosphoserineCombined sources1
Modified residuei395PhosphoserineCombined sources1
Modified residuei568PhosphoserineCombined sources1
Modified residuei574PhosphoserineCombined sources1
Modified residuei582PhosphoserineCombined sources1
Modified residuei602PhosphothreonineCombined sources1
Modified residuei821PhosphothreonineCombined sources1
Modified residuei823PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by NEK9 in vitro.1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TD16

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8TD16

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8TD16

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8TD16

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8TD16

PeptideAtlas

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PeptideAtlasi
Q8TD16

PRoteomics IDEntifications database

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PRIDEi
Q8TD16

ProteomicsDB human proteome resource

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ProteomicsDBi
74215 [Q8TD16-1]
74216 [Q8TD16-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8TD16

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8TD16

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000185963 Expressed in 241 organ(s), highest expression level in amniotic fluid

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8TD16 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA023013
HPA024452

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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).

By similarity6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116891, 42 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8TD16

Database of interacting proteins

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DIPi
DIP-53426N

Protein interaction database and analysis system

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IntActi
Q8TD16, 78 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000349351

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8TD16

Database of comparative protein structure models

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ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni25 – 398Interacts with DYNLL1, DYNC1H1, DYNC1I2, DCTN1 and DCTN2By similarityAdd BLAST374
Regioni334 – 599Interaction with KIF5ABy similarityAdd BLAST266
Regioni590 – 824Interaction with RANBP2By similarityAdd BLAST235
Regioni666 – 814Interacts with RAB6ABy similarityAdd BLAST149

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili20 – 269Sequence analysisAdd BLAST250
Coiled coili338 – 537Sequence analysisAdd BLAST200
Coiled coili666 – 808Sequence analysisAdd BLAST143

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The fourth coiled coil region is involved in Golgi targeting and in the interaction with DCTN2.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the BicD family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0999 Eukaryota
ENOG410XR47 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154471

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8TD16

KEGG Orthology (KO)

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KOi
K18739

Identification of Orthologs from Complete Genome Data

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OMAi
FCSEKYK

Database of Orthologous Groups

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OrthoDBi
542877at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8TD16

TreeFam database of animal gene trees

More...
TreeFami
TF323833

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR018477 BICD

The PANTHER Classification System

More...
PANTHERi
PTHR31233 PTHR31233, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09730 BicD, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8TD16-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSAPSEEEEY ARLVMEAQPE WLRAEVKRLS HELAETTREK IQAAEYGLAV
60 70 80 90 100
LEEKHQLKLQ FEELEVDYEA IRSEMEQLKE AFGQAHTNHK KVAADGESRE
110 120 130 140 150
ESLIQESASK EQYYVRKVLE LQTELKQLRN VLTNTQSENE RLASVAQELK
160 170 180 190 200
EINQNVEIQR GRLRDDIKEY KFREARLLQD YSELEEENIS LQKQVSVLRQ
210 220 230 240 250
NQVEFEGLKH EIKRLEEETE YLNSQLEDAI RLKEISERQL EEALETLKTE
260 270 280 290 300
REQKNSLRKE LSHYMSINDS FYTSHLHVSL DGLKFSDDAA EPNNDAEALV
310 320 330 340 350
NGFEHGGLAK LPLDNKTSTP KKEGLAPPSP SLVSDLLSEL NISEIQKLKQ
360 370 380 390 400
QLMQMEREKA GLLATLQDTQ KQLEHTRGSL SEQQEKVTRL TENLSALRRL
410 420 430 440 450
QASKERQTAL DNEKDRDSHE DGDYYEVDIN GPEILACKYH VAVAEAGELR
460 470 480 490 500
EQLKALRSTH EAREAQHAEE KGRYEAEGQA LTEKVSLLEK ASRQDRELLA
510 520 530 540 550
RLEKELKKVS DVAGETQGSL SVAQDELVTF SEELANLYHH VCMCNNETPN
560 570 580 590 600
RVMLDYYREG QGGAGRTSPG GRTSPEARGR RSPILLPKGL LAPEAGRADG
610 620 630 640 650
GTGDSSPSPG SSLPSPLSDP RREPMNIYNL IAIIRDQIKH LQAAVDRTTE
660 670 680 690 700
LSRQRIASQE LGPAVDKDKE ALMEEILKLK SLLSTKREQI TTLRTVLKAN
710 720 730 740 750
KQTAEVALAN LKSKYENEKA MVTETMMKLR NELKALKEDA ATFSSLRAMF
760 770 780 790 800
ATRCDEYITQ LDEMQRQLAA AEDEKKTLNS LLRMAIQQKL ALTQRLELLE
810 820
LDHEQTRRGR AKAAPKTKPA TPSL
Length:824
Mass (Da):93,533
Last modified:June 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i9C49138FF416378D
GO
Isoform 2 (identifier: Q8TD16-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     824-824: L → VSHTCACASDRAEGTGLANQVFCSEKHSIYCD

Note: Due to intron retention. No experimental confirmation available.
Show »
Length:855
Mass (Da):96,806
Checksum:iDE52F8A0D1FCDFD8
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA31674 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07011190K → R1 PublicationCorresponds to variant dbSNP:rs61754130EnsemblClinVar.1
Natural variantiVAR_070112107S → L in SMALED2A; causes Golgi fragmentation; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein. 3 PublicationsCorresponds to variant dbSNP:rs398123028EnsemblClinVar.1
Natural variantiVAR_070113188N → T in SMALED2A; causes Golgi fragmentation. 1 PublicationCorresponds to variant dbSNP:rs398123029EnsemblClinVar.1
Natural variantiVAR_070114189I → F in SMALED2A. 1 Publication1
Natural variantiVAR_081854194Q → R in SMALED2B. 1 Publication1
Natural variantiVAR_070115501R → P in SMALED2A; the mutation causes increased interaction with dynein; the mutant protein accumulates abnormally in the perinuclear region where it forms ring-like structures that colocalize with RAB6A. 1 PublicationCorresponds to variant dbSNP:rs398123032EnsemblClinVar.1
Natural variantiVAR_070116508K → T in SMALED2A. 1 PublicationCorresponds to variant dbSNP:rs398123031EnsemblClinVar.1
Natural variantiVAR_081855542C → W in SMALED2B. 1 Publication1
Natural variantiVAR_081856546Missing in SMALED2B. 1 Publication1
Natural variantiVAR_081857694R → C in SMALED2B. 2 Publications1
Natural variantiVAR_070117703T → M in SMALED2A; causes Golgi fragmentation. 2 PublicationsCorresponds to variant dbSNP:rs371707778EnsemblClinVar.1
Natural variantiVAR_070118774E → G in SMALED2A; affects interaction with RAB6A and DNAI1 and the subcellular location of the protein. 1 PublicationCorresponds to variant dbSNP:rs398123030EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_007969824L → VSHTCACASDRAEGTGLANQ VFCSEKHSIYCD in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY052562 mRNA Translation: AAL12246.1
AB014599 mRNA Translation: BAA31674.1 Different initiation.
AL137074 Genomic DNA No translation available.
AL136981 Genomic DNA No translation available.
BC004296 mRNA Translation: AAH04296.1
BC073970 mRNA Translation: AAH73970.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS35064.1 [Q8TD16-2]
CCDS6700.1 [Q8TD16-1]

NCBI Reference Sequences

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RefSeqi
NP_001003800.1, NM_001003800.1 [Q8TD16-2]
NP_056065.1, NM_015250.3 [Q8TD16-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000356884; ENSP00000349351; ENSG00000185963 [Q8TD16-2]
ENST00000375512; ENSP00000364662; ENSG00000185963 [Q8TD16-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
23299

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23299

UCSC genome browser

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UCSCi
uc004aso.2 human [Q8TD16-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY052562 mRNA Translation: AAL12246.1
AB014599 mRNA Translation: BAA31674.1 Different initiation.
AL137074 Genomic DNA No translation available.
AL136981 Genomic DNA No translation available.
BC004296 mRNA Translation: AAH04296.1
BC073970 mRNA Translation: AAH73970.1
CCDSiCCDS35064.1 [Q8TD16-2]
CCDS6700.1 [Q8TD16-1]
RefSeqiNP_001003800.1, NM_001003800.1 [Q8TD16-2]
NP_056065.1, NM_015250.3 [Q8TD16-1]

3D structure databases

SMRiQ8TD16
ModBaseiSearch...

Protein-protein interaction databases

BioGridi116891, 42 interactors
CORUMiQ8TD16
DIPiDIP-53426N
IntActiQ8TD16, 78 interactors
STRINGi9606.ENSP00000349351

PTM databases

iPTMnetiQ8TD16
PhosphoSitePlusiQ8TD16

Polymorphism and mutation databases

BioMutaiBICD2
DMDMi34098604

Proteomic databases

EPDiQ8TD16
jPOSTiQ8TD16
MassIVEiQ8TD16
MaxQBiQ8TD16
PaxDbiQ8TD16
PeptideAtlasiQ8TD16
PRIDEiQ8TD16
ProteomicsDBi74215 [Q8TD16-1]
74216 [Q8TD16-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356884; ENSP00000349351; ENSG00000185963 [Q8TD16-2]
ENST00000375512; ENSP00000364662; ENSG00000185963 [Q8TD16-1]
GeneIDi23299
KEGGihsa:23299
UCSCiuc004aso.2 human [Q8TD16-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23299
DisGeNETi23299

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BICD2
HGNCiHGNC:17208 BICD2
HPAiHPA023013
HPA024452
MalaCardsiBICD2
MIMi609797 gene
615290 phenotype
618291 phenotype
neXtProtiNX_Q8TD16
OpenTargetsiENSG00000185963
Orphaneti363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
PharmGKBiPA134969018

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0999 Eukaryota
ENOG410XR47 LUCA
GeneTreeiENSGT00940000154471
InParanoidiQ8TD16
KOiK18739
OMAiFCSEKYK
OrthoDBi542877at2759
PhylomeDBiQ8TD16
TreeFamiTF323833

Enzyme and pathway databases

ReactomeiR-HSA-6811436 COPI-independent Golgi-to-ER retrograde traffic
SIGNORiQ8TD16

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
BICD2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BICD2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
23299

Pharos

More...
Pharosi
Q8TD16

Protein Ontology

More...
PROi
PR:Q8TD16

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000185963 Expressed in 241 organ(s), highest expression level in amniotic fluid
GenevisibleiQ8TD16 HS

Family and domain databases

InterProiView protein in InterPro
IPR018477 BICD
PANTHERiPTHR31233 PTHR31233, 1 hit
PfamiView protein in Pfam
PF09730 BicD, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBICD2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8TD16
Secondary accession number(s): O75181
, Q5TBQ2, Q5TBQ3, Q96LH2, Q9BT84, Q9H561
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: June 1, 2002
Last modified: September 18, 2019
This is version 155 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
UniProt is an ELIXIR core data resource
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