FAM120B

protein-coding

family with sequence similarity 120B, the group of MicroRNA protein coding host genes

Gene summary

Predicted to be involved in fat cell differentiation and peroxisome proliferator activated receptor signaling pathway. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

KIAA1838

MANE transcript

NM_032448.3

Inheritance

—

ClinVar variants

U:105B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr6:170,290,703-170,407,067

External References & Databases

Ensembl (ENSG00000112584)

Transcript & Mutation Effects

hg38 • Region Span ~116.4 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 FAM120B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 103

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032448.3. 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			99 clinvar	12 clinvar		111
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5 clinvar			5
Total	0	0	105	14	0	119

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 63 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032448.3	RefSeq	NP_115824.1	9	MANE Select
ENST00000476287.4	Ensembl	ENSP00000417970.1	9	MANE Select
NM_001286379.2	RefSeq	NP_001273308.1	10	Standard
NM_001286380.2	RefSeq	NP_001273309.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Developmental Biology
Transcriptional regulation of white adipocyte differentiation
RXR and RAR heterodimerization with other nuclear receptor

Biological Process

peroxisome proliferator activated receptor signaling pathway
fat cell differentiation

Molecular Function

protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000476287
Coding exons: 9
Length: 116363
Individuals with no LoFs: 125513
Homozygous LoFs: 92
Heterozygous LoFs: 143
Defined: 125748
p: 0.000935

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.675	453	495	0.915	0.0000261	5922
Missense (PolyPhen)		107	156.64	0.68311		1908
Synonymous	-0.904	203	187	1.08	0.0000110	1722
Loss of Function	2.90	24	45.0	0.533	0.00000271	503

Population LoF Frequency

Population	CAF	p-value	Status
African	0.020	0.0052	notable
Latino/Admixed American	0.0020	0.0012	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00072	0.00069	rare
South Asian	0.00036	0.00036	rare
Other	0.0018	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Functions as a transactivator of PPARG and ESR1. Functions in adipogenesis through PPARG activation (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0832

Intolerance Scores

LoFtool: 0.909
RVIS EVS: 1.18
RVIS percentile EVS: 92.8

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.473

Gene Damage Prediction

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