TEDC2

protein-coding

tubulin epsilon and delta complex 2, the group of MicroRNA protein coding host genes

Gene summary

Involved in microtubule cytoskeleton organization. Located in centrosome. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C16orf59

MANE transcript

NM_025108.3

Inheritance

—

ClinVar variants

U:14B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.93

Max pathogenic AF

—

Genomic locus

chr16:2,460,086-2,464,963

External References & Databases

Ensembl (ENSG00000162062)

Transcript & Mutation Effects

hg38 • Region Span ~4.9 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 TEDC2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 8

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_025108.3. 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	2 clinvar		3
missense			11 clinvar			11
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	14	2	0	16

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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_025108.3	RefSeq	NP_079384.2	10	MANE Select
ENST00000361837.9	Ensembl	ENSP00000355022.4	10	MANE Select
ENST00000483320.5	Ensembl	ENSP00000456478.1	7	Standard
ENST00000563531.5	Ensembl	ENSP00000458565.1	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000361837
Coding exons: 10
Length: 4884
Individuals with no LoFs: 124665
Homozygous LoFs: 0
Heterozygous LoFs: 89
Defined: 124754
p: 0.000357

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.145	258	252	1.03	0.0000152	2670
Missense (PolyPhen)		57	62.278	0.91525		831
Synonymous	-1.39	131	112	1.17	0.00000714	958
Loss of Function	0.301	18	19.4	0.926	9.94e-7	215

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00026	0.00026	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00061	0.00061	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00054	0.00052	rare
South Asian	0.00026	0.00026	rare
Other	0.00051	0.00050	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0793

Intolerance Scores

RVIS EVS: 0.46
RVIS percentile EVS: 78.69

Essentials

Essential (gene trap): N