TICRR

protein-coding

TOPBP1 interacting checkpoint and replication regulator

Gene summary

Enables chromatin binding activity. Involved in regulation of DNA-templated DNA replication initiation. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C15orf42

MANE transcript

NM_152259.4

Inheritance

—

ClinVar variants

U:336B:36

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.45

Max pathogenic AF

—

Genomic locus

chr15:89,575,469-89,631,056

External References & Databases

Ensembl (ENSG00000140534)

Transcript & Mutation Effects

hg38 • Region Span ~55.6 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 TICRR variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 350

not providedTotal: 10

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152259.4. 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	4 clinvar	2 clinvar	8
missense			329 clinvar	27 clinvar	3 clinvar	359
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	336	31	5	372

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152259.4	RefSeq	NP_689472.3	22	MANE Select
ENST00000268138.12	Ensembl	ENSP00000268138.7	22	MANE Select
NM_001308025.1	RefSeq	NP_001294954.1	22	Standard
ENST00000560985.5	Ensembl	ENSP00000453306.1	22	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
ticrr	Danio rerio	Structure: trunk Quality: curved dorsal abnormal

Gene / Model

Organism

Observed Phenotype

ticrr

Danio rerio

Structure: trunk

Quality: curved dorsal

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

formation of translation preinitiation complex
DNA replication
DNA repair
mitotic cell cycle checkpoint
response to ionizing radiation

Molecular Function

chromatin binding
protein binding

Cellular Component

nucleus
nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000268138
Coding exons: 22
Length: 55575
Individuals with no LoFs: 125598
Homozygous LoFs: 0
Heterozygous LoFs: 150
Defined: 125748
p: 0.000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.45	1150	1.02e+3	1.13	0.0000529	12306
Missense (PolyPhen)		257	262.69	0.97835		3331
Synonymous	-1.59	445	404	1.10	0.0000219	3938
Loss of Function	4.51	36	79.4	0.454	0.00000445	941

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00038	0.00037	rare
Latino/Admixed American	0.00081	0.00078	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00044	0.00044	rare
Finnish	0.0016	0.0013	notable
European (Non-Finnish)	0.00057	0.00055	rare
South Asian	0.00037	0.00036	rare
Other	0.0014	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Regulator of DNA replication and S/M and G2/M checkpoints. Regulates the triggering of DNA replication initiation via its interaction with TOPBP1 by participating in CDK2-mediated loading of CDC45L onto replication origins. Required for the transition from pre-replication complex (pre-RC) to pre- initiation complex (pre-IC). Required to prevent mitotic entry after treatment with ionizing radiation. {ECO:0000269|PubMed:20116089}.;

Intolerance Scores

RVIS EVS: 1.27
RVIS percentile EVS: 93.64

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High