CEMP1

protein-coding

cementum protein 1

Gene summary

Enables hydroxyapatite binding activity. Involved in several processes, including biomineral tissue development; cell population proliferation; and odontogenesis. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001048212.3

Inheritance

—

ClinVar variants

U:38B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e —

Max pathogenic AF

—

Genomic locus

chr16:2,530,035-2,531,417

External References & Databases

Ensembl (ENSG00000205923)

Transcript & Mutation Effects

hg38 • Region Span ~1.4 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 CEMP1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 42

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001048212.3. 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						0
missense			38 clinvar	5 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	38	5	0	43

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 3 of 3 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001048212.3	RefSeq	NP_001041677.1	1	MANE Select
ENST00000567119.1	Ensembl	ENSP00000457380.1	1	MANE Select
ENST00000565480.1	Ensembl	ENSP00000455479.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell population proliferation
cell differentiation
biomineral tissue development
odontogenesis

Molecular Function

hydroxyapatite binding

Cellular Component

nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000382350
Coding exons: 1
Length: 4340

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.21	186	145	1.28	0.00000800	1562
Missense (PolyPhen)		24	16.091	1.4915		164
Synonymous	-1.63	78	61.7	1.26	0.00000362	561
Loss of Function

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 a role in development of the periodontium which surrounds and supports the teeth by promoting the differentiation of multi-potent cells from the periodontal ligament into cementoblasts to form the cementum (PubMed:21929512, PubMed:17509525, PubMed:21465469). Binds hydroxyapatite and may promote the biomineralization of the cementum (PubMed:19393626). Also promotes cell proliferation (PubMed:17509525, PubMed:21929512, PubMed:26011628). {ECO:0000269|PubMed:17509525, ECO:0000269|PubMed:19393626, ECO:0000269|PubMed:21465469, ECO:0000269|PubMed:21929512, ECO:0000269|PubMed:26011628}.;

Intolerance Scores

RVIS EVS: 0.31
RVIS percentile EVS: 72.38

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.00319

Gene Damage Prediction

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