TTC28

protein-coding

tetratricopeptide repeat domain 28, the group of Tetratricopeptide repeat domain containing

Gene summary

Enables kinase binding activity. Involved in regulation of mitotic cell cycle. Located in midbody. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001145418.2

Inheritance

—

ClinVar variants

U:348B:53

Top phenotype

TTC28-related disorder

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chr22:27,978,014-28,679,840

External References & Databases

Ensembl (ENSG00000100154)

Transcript & Mutation Effects

hg38 • Region Span ~701.8 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 TTC28 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 349

TTC28-related disorderTotal: 34

not providedTotal: 27

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001145418.2. 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			2 clinvar	27 clinvar	10 clinvar	39
missense			343 clinvar	15 clinvar	1 clinvar	359
nonsense			2 clinvar			2
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	348	42	11	401

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 18 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001145418.2	RefSeq	NP_001138890.1	23	MANE Select
ENST00000397906.7	Ensembl	ENSP00000381003.2	23	MANE Select
NM_001393403.1	RefSeq	NP_001380332.1	22	Standard
NM_001393404.1	RefSeq	NP_001380333.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell cycle
regulation of mitotic cell cycle
cell division

Molecular Function

kinase binding

Cellular Component

spindle pole
cytoplasm
microtubule organizing center
midbody
mitotic spindle

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000397906
Coding exons: 23
Length: 701850
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	4.17	925	1.36e+3	0.682	0.0000789	16061
Missense (PolyPhen)		349	591.58	0.58995		6989
Synonymous	3.71	465	579	0.804	0.0000362	5068
Loss of Function	8.22	10	97.8	0.102	0.00000546	1135

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: During mitosis, may be involved in the condensation of spindle midzone microtubules, leading to the formation of midbody. {ECO:0000269|PubMed:23036704}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

RVIS EVS: 0.89
RVIS percentile EVS: 89.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.905

Gene Damage Prediction

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