CHADL

protein-coding

chondroadherin like

Gene summary

Enables collagen binding activity and collagen fibril binding activity. Involved in negative regulation of collagen fibril organization. Is active in gel phase of interstitial matrix. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_138481.2

Inheritance

—

ClinVar variants

U:145B:10

Top phenotype

EBV-positive nodal T- and NK-cell lymphoma

gnomAD constraint

pLI —, LoF o/e 0.75

Max pathogenic AF

—

Genomic locus

chr22:41,229,510-41,240,931

External References & Databases

Ensembl (ENSG00000100399)

Transcript & Mutation Effects

hg38 • Region Span ~11.4 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 CHADL variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 155

not providedTotal: 5

EBV-positive nodal T- and NK-cell lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138481.2. 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	4 clinvar		5
missense			144 clinvar	6 clinvar		150
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	145	10	0	155

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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_138481.2	RefSeq	NP_612490.1	6	MANE Select
ENST00000216241.14	Ensembl	ENSP00000216241.9	6	MANE Select
ENST00000417999.5	Ensembl	ENSP00000392046.1	5	Standard
ENST00000455425.1	Ensembl	ENSP00000412359.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

negative regulation of chondrocyte differentiation
negative regulation of collagen fibril organization

Molecular Function

collagen binding
extracellular matrix structural constituent conferring compression resistance
collagen fibril binding

Cellular Component

extracellular space
extracellular matrix
collagen-containing extracellular matrix

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000216241
Coding exons: 6
Length: 11422
Individuals with no LoFs: 123358
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 123360
p: 0.00000811

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.96	277	385	0.719	0.0000246	4654
Missense (PolyPhen)		89	130.49	0.68205		1755
Synonymous	3.41	132	192	0.687	0.0000122	1844
Loss of Function	0.997	14	18.6	0.751	9.60e-7	216

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	0.00011	0.00011	rare
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: Potential negative modulator of chondrocyte differentiation. Inhibits collagen fibrillogenesis in vitro. May influence chondrocyte's differentiation by acting on its cellular collagenous microenvironment. {ECO:0000269|PubMed:25451920}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0817

Gene Damage Prediction

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