INSYN2B

Gene

inhibitory synaptic factor family member 2B

Gene summary

No gene description available in the current model. Review primary literature for detailed gene function and characteristics.

Previous symbols:

C5orf57
FAM196B

MANE transcript

NM_001129891.3

Inheritance

—

ClinVar variants

U:84B:12

Top phenotype

DOCK2 deficiency

gnomAD constraint

pLI —, LoF o/e 0.06

Max pathogenic AF

—

Genomic locus

chr5:169,861,303-169,980,495

External References & Databases

Ensembl (ENSG00000204767)

NCBI Gene (100131897)

Transcript & Mutation Effects

hg38 • Region Span ~119.2 kb

Loading mutation effect viewer...

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 INSYN2B variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 7

DOCK2 deficiencyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001129891.3. 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				4 clinvar		4
missense			83 clinvar	8 clinvar		91
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	12	0	96

Loading ClinVar variants...

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_001129891.3	RefSeq	NP_001123363.1	3	MANE Select
ENST00000377365.4	Ensembl	ENSP00000366582.3	3	MANE Select
NM_001346304.2	RefSeq	NP_001333233.1	3	Standard
ENST00001133641.1	Ensembl	ENSP00000810770.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000377365
Coding exons: 3
Length: 116477
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	1.71	202	283	0.714	0.0000147	3484
Missense (PolyPhen)		56	90.139	0.62126		1153
Synonymous	1.42	92	111	0.828	0.00000596	1082
Loss of Function	3.61	1	17.1	0.0585	9.33e-7	211

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

Intolerance Scores

RVIS EVS: 0.48
RVIS percentile EVS: 79.04

Essentials

Essential (gene trap): N