CCSER2

protein-coding

coiled-coil serine rich protein 2

Gene summary

Predicted to enable microtubule binding activity. Predicted to be involved in microtubule bundle formation. Predicted to be located in cytoskeleton. Predicted to be active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA1128
FAM190B

MANE transcript

NM_001284240.2

Inheritance

—

ClinVar variants

U:124B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr10:84,328,586-84,518,521

External References & Databases

Ensembl (ENSG00000107771)

Transcript & Mutation Effects

hg38 • Region Span ~189.9 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 CCSER2 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 132

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001284240.2. 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				1 clinvar		1
missense			121 clinvar	6 clinvar		127
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	124	7	0	131

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 48 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001284240.2	RefSeq	NP_001271169.1	9	MANE Select
ENST00000372088.8	Ensembl	ENSP00000361160.2	9	MANE Select
NM_001284241.2	RefSeq	NP_001271170.1	2	Standard
NM_001284242.2	RefSeq	NP_001271171.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

microtubule bundle formation

Molecular Function

microtubule binding

Cellular Component

cytoplasm
microtubule cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000224756
Coding exons: 10
Length: 189932
Individuals with no LoFs: 125718
Homozygous LoFs: 0
Heterozygous LoFs: 20
Defined: 125738
p: 0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0727	432	428	1.01	0.0000207	5517
Missense (PolyPhen)		141	147.09	0.9586		2030
Synonymous	-0.406	159	153	1.04	0.00000723	1540
Loss of Function	4.32	7	34.3	0.204	0.00000179	465

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00017	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000071	0.000070	rare
South Asian	0.000065	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Microtubule-binding protein which might play a role in microtubule bundling. {ECO:0000250|UniProtKB:Q3UHI0}.;

Recessive Scores

pRec: 0.0941

Intolerance Scores

RVIS EVS: 0.45
RVIS percentile EVS: 77.98

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

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