FAM187B

protein-coding

family with sequence similarity 187 member B

Gene summary

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

TMEM162

MANE transcript

NM_152481.2

Inheritance

—

ClinVar variants

U:65B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.21

Max pathogenic AF

—

Genomic locus

chr19:35,224,800-35,228,739

External References & Databases

Ensembl (ENSG00000177558)

Transcript & Mutation Effects

hg38 • Region Span ~3.9 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 FAM187B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 74

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152481.2. 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						0
missense			65 clinvar	10 clinvar		75
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	10	0	75

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152481.2	RefSeq	NP_689694.1	2	MANE Select
ENST00000324675.4	Ensembl	ENSP00000323355.3	2	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000324675
Coding exons: 2
Length: 3930
Individuals with no LoFs: 56097
Homozygous LoFs: 14847
Heterozygous LoFs: 54803
Defined: 125747
p: 0.332

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.614	186	211	0.881	0.0000123	2378
Missense (PolyPhen)		48	60.949	0.78754		773
Synonymous	0.799	90	100	0.898	0.00000648	742
Loss of Function	-0.615	12	9.91	1.21	4.27e-7	106

Population LoF Frequency

Population	CAF	p-value	Status
African	0.31	0.31	notable
Latino/Admixed American	0.34	0.34	notable
Ashkenazi Jewish	0.33	0.33	notable
East Asian	0.18	0.18	notable
Finnish	0.34	0.33	notable
European (Non-Finnish)	0.33	0.33	notable
South Asian	0.47	0.47	notable
Other	0.34	0.34	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.842
RVIS EVS: 1.46
RVIS percentile EVS: 95.23

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0148

Gene Damage Prediction

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