FBLN7

protein-coding

fibulin 7, the group of Sushi domain containing|Fibulins

Gene summary

Predicted to enable calcium ion binding activity; heparan sulfate proteoglycan binding activity; and heparin binding activity. Predicted to be involved in cell adhesion. Located in focal adhesion. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_153214.3

Inheritance

—

ClinVar variants

U:82B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.58

Max pathogenic AF

—

Genomic locus

chr2:112,138,385-112,188,218

External References & Databases

Ensembl (ENSG00000144152)

Transcript & Mutation Effects

hg38 • Region Span ~49.8 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 FBLN7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 83

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_153214.3. 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			1 clinvar	3 clinvar		4
missense			80 clinvar	3 clinvar		83
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	82	6	0	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_153214.3	RefSeq	NP_694946.2	8	MANE Select
ENST00000331203.7	Ensembl	ENSP00000331411.2	8	MANE Select
NM_001128165.2	RefSeq	NP_001121637.1	7	Standard
ENST00000272559.4	Ensembl	ENSP00000272559.4	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell adhesion

Molecular Function

calcium ion binding
heparin binding

Cellular Component

extracellular region
focal adhesion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000331203
Coding exons: 8
Length: 49830
Individuals with no LoFs: 125690
Homozygous LoFs: 0
Heterozygous LoFs: 58
Defined: 125748
p: 0.000231

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.15	225	279	0.807	0.0000183	2837
Missense (PolyPhen)		82	108.73	0.75419		1083
Synonymous	-0.724	129	119	1.08	0.00000831	901
Loss of Function	1.70	11	19.0	0.579	9.83e-7	207

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0010	notable
Latino/Admixed American	0.000089	0.000087	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00028	0.00027	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00024	0.00024	rare
South Asian	0.000066	0.000065	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation. {ECO:0000250}.;

Recessive Scores

pRec: 0.101

Intolerance Scores

LoFtool: 0.406
RVIS EVS: -0.64
RVIS percentile EVS: 16.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.182

Gene Damage Prediction

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