FSBP

protein-coding

fibrinogen silencer binding protein

Gene summary

Enables identical protein binding activity. Predicted to be involved in DNA-templated transcription. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001256141.2

Inheritance

—

ClinVar variants

B:1

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.64

Max pathogenic AF

—

Genomic locus

chr8:94,378,377-94,436,952

External References & Databases

Ensembl (ENSG00000265817)

NCBI Gene (100861412)

Transcript & Mutation Effects

hg38 • Region Span ~58.6 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 FSBP variants in ClinVar

4 Conditions Cataloged

Inborn genetic diseasesTotal: 24

not providedTotal: 19

Carcinoma of colonTotal: 1

Non-Hodgkin lymphomaTotal: 1

ClinVar Variants & Pathogenicity by Type

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

Highest pathogenic variant AF is 0.00000657912

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001256141.2	RefSeq	NP_001243070.1	2	MANE Select
ENST00000481490.3	Ensembl	ENSP00000420405.2	2	MANE Select
ENST00000517506.2	Ensembl	ENSP00000462684.1	2	Standard
ENST00001008052.1	Ensembl	ENSP00000677869.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
identical protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000481490
Coding exons: 2
Length: 58576
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.57	93	146	0.636	0.00000708	1964
Missense (PolyPhen)		34	61.813	0.55004		836
Synonymous	2.48	31	54.2	0.572	0.00000260	563
Loss of Function	1.01	6	9.31	0.644	3.89e-7	143

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: Transcriptional repressor that down-regulates the expression of the fibrinogen gamma chain. Represses transcription of GSK3B gene promoter via its interaction with APBA1. {ECO:0000269|PubMed:20531236}.;

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

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