CCDC85C

protein-coding

coiled-coil domain containing 85C

Gene summary

Predicted to be involved in cerebral cortex development. Predicted to act upstream of or within several processes, including Notch signaling pathway; establishment of cell polarity; and radial glial cell differentiation. Located in adherens junction. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001144995.2

Inheritance

—

ClinVar variants

U:70B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.15

Max pathogenic AF

—

Genomic locus

chr14:99,500,190-99,604,207

External References & Databases

Ensembl (ENSG00000205476)

Transcript & Mutation Effects

hg38 • Region Span ~104.0 kb

Loading mutation effect viewer...

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 CCDC85C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 73

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001144995.2. 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				3 clinvar		3
missense			69 clinvar	3 clinvar		72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	70	6	0	76

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001144995.2	RefSeq	NP_001138467.1	6	MANE Select
ENST00000380243.9	Ensembl	ENSP00000369592.4	6	MANE Select
ENST00000554877.1	Ensembl	ENSP00000452300.1	3	Standard
ENST00000554996.5	Ensembl	ENSP00000451294.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cerebral cortex development

Cellular Component

bicellular tight junction
apical junction complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380243
Coding exons: 6
Length: 92761
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.35	103	149	0.690	0.00000881	2615
Missense (PolyPhen)		29	47.142	0.61516		526
Synonymous	0.974	60	70.4	0.852	0.00000436	877
Loss of Function	2.87	2	13.3	0.150	7.63e-7	165

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play an important role in cortical development, especially in the maintenance of radial glia. {ECO:0000250}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.263

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium