Gene
BICD2
BICD cargo adaptor 2
- HGNC 17208↗(opens in a new tab)
- Ensembl gene ENSG00000185963↗(opens in a new tab)
- NCBI Gene 23299↗(opens in a new tab)
Summary
- Cytogenetic location
- 9q22.31
- Coordinates
- Chromosome 9: 92,711,363–92,764,833 (GRCh38)
- Exons
- 7 exons across 53.5 kb
- Protein
- 855 amino acids
- Also known as
- KIAA0699
- MANE Select transcript
- ENST00000356884.11NM_001003800.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Spinal Muscular Atrophy
A group of disorders characterised by degeneration of spinal cord anterior horn cells, leading to progressive muscle weakness and atrophy.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Gene therapy (onasemnogene abeparvovec), antisense oligonucleotide therapy (nusinersen), oral splicing modifier (risdiplam), supportive care
How BICD2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 6.4 kb of the gene's 53.5 kb; 2,568 of those bases code for the protein.
How a genome test reads BICD2
24
positions in BICD2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 53.5 kb of BICD2, introns included, not only the 6.4 kb of exons.
Genes linked to the same conditions
- ASAH1N-acylsphingosine amidohydrolase 1Shares 1 condition
- ATP7AATPase copper transporting alphaShares 1 condition
- BSCL2BSCL2 lipid droplet biogenesis associated, seipinShares 1 condition
- CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10Shares 1 condition
- DCTN1dynactin subunit 1Shares 1 condition
- DNAJB2DnaJ heat shock protein family (Hsp40) member B2Shares 1 condition
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 1 condition
- EMILIN1elastin microfibril interfacer 1Shares 1 condition
- EXOSC3exosome component 3Shares 1 condition
- EXOSC8exosome component 8Shares 1 condition
- FBXO38F-box protein 38Shares 1 condition
- GARS1glycyl-tRNA synthetase 1Shares 1 condition
Traits linked to BICD2
The Human Phenotype Ontology lists these as features of the rare conditions BICD2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Club feet
- Decreased Achilles reflex
- Lower limb muscle weakness
- Proximal lower limb muscle weakness
- Decreased knee jerk reflex
- Winged shoulder blade
- Femur fracture
- Hand clenching
Show 16 more traits
- Hip dislocation
- Hyporeflexia of lower limbs
- Inward turned thumb
- Shortening of the achilles tendon
- Single transverse palmar crease
- Ulnar deviation of the hand
- Abnormality of the Achilles tendon
- Distal lower limb muscle weakness
- Dropped arches
- High-arched foot
- Hip contracture
- Inability to straighten knee
- Hand muscle weakness
- Weak shoulder muscles
- Dislocated hip since birth
- Overlapping fingers
Abnormality of the musculoskeletal system
- Multiple joint contractures
- Arthrogryposis multiplex congenita
- Congenital foot contraction deformities
- Distal lower limb amyotrophy
- Gowers sign
- Lower limb amyotrophy
- Prominent swayback
- Proximal neurogenic muscle weakness
Show 14 more traits
- Weakness of outermost muscles
- Abnormal formation of the hip
- Axial muscle weakness
- Bulbar palsy
- Flexed joint that cannot be straightened
- Funnel chest
- Hunched back
- Scoliosis
- Decreased lung function due to weak breathing muscles
- Difficulty running
- Lower limb spasticity
- Muscle degeneration
- Severely decreased muscle tone
- Spinal muscle degeneration
Abnormality of the nervous system
- Waddling gait
- Abnormal gait
- Cerebellar vermis hypoplasia
- Extra-axial cerebrospinal fluid accumulation
- Lateral ventricle dilatation
- Motor delay
- Perisylvian polymicrogyria
- Small cerebellum
Show 14 more traits
- Spina bifida occulta
- Underdevelopment of part of brain called corpus callosum
- Wide based walk
- Babinski sign
- Decreased reflex response
- High stepping
- Increased reflexes
- Intellectual disability
- Muscle twitch
- Obstructive sleep apnea
- Absent reflexes
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Toe walking
- Ventriculomegaly
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). BICD2 gene: BICD cargo adaptor 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/bicd2
Dante Labs. BICD2 gene: BICD cargo adaptor 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/bicd2
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