BICDL2

protein-coding

BICD family like cargo adaptor 2

Gene summary

Predicted to enable small GTPase binding activity. Predicted to be involved in Golgi to secretory granule transport and vesicle transport along microtubule. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

CCDC64B

MANE transcript

NM_001369667.1

Inheritance

—

ClinVar variants

U:11B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr16:3,027,682-3,036,944

External References & Databases

Ensembl (ENSG00000162069)

Transcript & Mutation Effects

hg38 • Region Span ~9.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BICDL2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 5

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001369667.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar			2
missense			6 clinvar	1 clinvar		7
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	11	1	0	12

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001369667.1	RefSeq	NP_001356596.1	9	MANE Select
ENST00000572449.6	Ensembl	ENSP00000459043.1	9	MANE Select
NM_001103175.2	RefSeq	NP_001096645.1	9	Standard
ENST00000389347.4	Ensembl	ENSP00000373998.4	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

vesicle transport along microtubule
Golgi to secretory granule transport

Molecular Function

protein binding
Rab GTPase binding

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000572449
Coding exons: 9
Length: 9245
Individuals with no LoFs: 124431
Homozygous LoFs: 0
Heterozygous LoFs: 33
Defined: 124464
p: 0.000133

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.511	312	288	1.08	0.0000189	3069
Missense (PolyPhen)		109	97.721	1.1154		1097
Synonymous	0.0341	135	136	0.996	0.00000867	1089
Loss of Function	1.07	21	27.0	0.777	0.00000174	263

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000049	0.000046	rare
European (Non-Finnish)	0.00024	0.00023	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0958