CYRIB

protein-coding

CYFIP related Rac1 interactor B, the group of MicroRNA protein coding host genes

Gene summary

Enables small GTPase binding activity. Involved in several processes, including negative regulation of actin filament polymerization; negative regulation of small GTPase mediated signal transduction; and regulation of mitochondrial fission. Located in mitochondrion. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

FAM49B

MANE transcript

NM_001353258.2

Inheritance

—

ClinVar variants

U:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chr8:129,839,593-130,017,504

External References & Databases

Ensembl (ENSG00000153310)

Transcript & Mutation Effects

hg38 • Region Span ~177.9 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 CYRIB variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 12

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001353258.2. 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			1
missense			13 clinvar			13
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	16	0	0	16

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 292 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001353258.2	RefSeq	NP_001340187.1	10	MANE Select
ENST00000694912.1	Ensembl	ENSP00000511587.1	10	MANE Select
NM_001256763.2	RefSeq	NP_001243692.1	10	Standard
NM_001330612.2	RefSeq	NP_001317541.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Platelet degranulation
Response to elevated platelet cytosolic Ca2+
Platelet activation, signaling and aggregation
Hemostasis

Biological Process

positive regulation of T cell mediated cytotoxicity
platelet degranulation
positive regulation of interferon-gamma production
positive regulation of T cell activation
positive regulation of memory T cell activation

Molecular Function

protein binding
MHC class Ib protein binding, via antigen binding groove

Cellular Component

extracellular region
cilium
membrane
platelet alpha granule lumen
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000519824
Coding exons: 10
Length: 177537
Individuals with no LoFs: 123184
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 123185
p: 0.00000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	3.21	51	168	0.303	0.00000804	2141
Missense (PolyPhen)		11	60.068	0.18313		789
Synonymous	1.60	41	56.3	0.728	0.00000272	588
Loss of Function	3.76	2	20.3	0.0986	0.00000119	240

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0.00010	0.00010	rare
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

Recessive Scores

pRec: 0.113

Intolerance Scores

RVIS EVS: -0.08
RVIS percentile EVS: 47.79

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.508

Gene Damage Prediction

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