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

Summary

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

Location:: 9q22.31

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (92711363..92764833, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (104877924..104931411, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (95473645..95527115, complement)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Molecular mechanism for recognition of the cargo adapter Rab6[GTP] by the dynein adapter BicD2.
Title: Molecular mechanism for recognition of the cargo adapter Rab6(GTP) by the dynein adapter BicD2.
m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression.
Title: m6Am methyltransferase PCIF1 negatively regulates ciliation by inhibiting BICD2 expression.
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.
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.
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.
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.
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.
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.
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.
Clinical spectrum of BICD2 mutations.
Title: Clinical spectrum of BICD2 mutations.

Submit: New GeneRIF Correction See all GeneRIFs (32)

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

Associated conditions

Description	Tests
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures MedGen: C4747715 OMIM: 615290 GeneReviews: Not available	Compare labs
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant MedGen: C4749003 OMIM: 618291 GeneReviews: Not available	Compare labs

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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH91165 (e-PCR)
- UniSTS:84798

BICD2_9337 (e-PCR)
- UniSTS:468303

G06234 (e-PCR)
- UniSTS:79236

RH121891 (e-PCR)
- UniSTS:163212

WI-17979 (e-PCR)
- UniSTS:4513

G19949 (e-PCR)
- UniSTS:75684

A002D08 (e-PCR)
- UniSTS:75685

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

NG_033908.1 RefSeqGene

Range

4969..58439

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001003800.2 → NP_001003800.1 protein bicaudal D homolog 2 isoform 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
NM_015250.4 → NP_056065.1 protein bicaudal D homolog 2 isoform 2

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