C1QTNF8

protein-coding

C1q and TNF related 8, the group of C1q and TNF related

Gene summary

Involved in positive regulation of cell motility. Predicted to be located in extracellular region. Predicted to be active in obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_207419.3

Inheritance

—

ClinVar variants

U:70B:1

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 2.04

Max pathogenic AF

—

Genomic locus

chr16:1,088,226-1,096,711

External References & Databases

Ensembl (ENSG00000184471)

Transcript & Mutation Effects

hg38 • Region Span ~8.5 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 C1QTNF8 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 70

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_207419.3. 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			69 clinvar	1 clinvar		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	70	1	0	71

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_207419.3	RefSeq	NP_997302.2	2	MANE Select
ENST00000328449.6	Ensembl	ENSP00000330426.5	2	MANE Select
ENST00000885540.1	Ensembl	ENSP00000555599.1	2	Standard
XM_047434099.1	RefSeq	XP_047290055.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of cell motility

Molecular Function

protein binding

Cellular Component

extracellular region
collagen trimer

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000328449
Coding exons: 2
Length: 6240
Individuals with no LoFs: 123768
Homozygous LoFs: 7
Heterozygous LoFs: 540
Defined: 124315
p: 0.00220

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.786	181	154	1.18	0.0000108	1549
Missense (PolyPhen)		54	40.595	1.3302		506
Synonymous	-0.0107	76	75.9	1.00	0.00000587	558
Loss of Function	-2.52	14	6.87	2.04	3.69e-7	70

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00043	rare
Latino/Admixed American	0.00024	0.00023	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00025	0.00016	rare
Finnish	0.020	0.020	notable
European (Non-Finnish)	0.00069	0.00065	rare
South Asian	0.00053	0.00052	rare
Other	0.0029	0.0028	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role as ligand of RXFP1. {ECO:0000269|PubMed:24014093}.;

Recessive Scores

pRec: 0.118

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.302

Gene Damage Prediction

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