FAM86B2

protein-coding

family with sequence similarity 86 member B2

Gene summary

Predicted to enable protein-lysine N-methyltransferase activity. Predicted to be involved in methylation. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001137610.3

Inheritance

—

ClinVar variants

U:83B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.02

Max pathogenic AF

—

Genomic locus

chr8:12,424,411-12,436,406

External References & Databases

Ensembl (ENSG00000145002)

Transcript & Mutation Effects

hg38 • Region Span ~12.0 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 FAM86B2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 90

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001137610.3. 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			2 clinvar			2
missense			81 clinvar	9 clinvar	1 clinvar	91
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	83	9	1	93

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 41 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001137610.3	RefSeq	NP_001131082.1	8	MANE Select
ENST00000262365.9	Ensembl	ENSP00000262365.4	8	MANE Select
ENST00000309608.7	Ensembl	ENSP00000311330.7	2	Standard
ENST00000527331.6	Ensembl	ENSP00000432491.2	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process
methylation

Molecular Function

protein binding
methyltransferase activity

Cellular Component

protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262365
Coding exons: 8
Length: 11003
Individuals with no LoFs: 124368
Homozygous LoFs: 0
Heterozygous LoFs: 10
Defined: 124378
p: 0.0000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-2.39	169	101	1.67	0.00000603	1976
Missense (PolyPhen)		52	30.489	1.7056		719
Synonymous	-2.15	61	43.1	1.42	0.00000264	627
Loss of Function	-0.0515	8	7.84	1.02	4.06e-7	170

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000036	0.000036	rare
South Asian	0.000034	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.102

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.0353

Gene Damage Prediction

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