LSM14B

protein-coding

LSM family member 14B, the group of LSm proteins

Gene summary

Enables RNA binding activity. Predicted to be involved in several processes, including maternal mRNA clearance; meiotic cell cycle process involved in oocyte maturation; and ovarian follicle development. Predicted to be located in cytoplasmic ribonucleoprotein granule. Predicted to be part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C20orf40
FAM61B

MANE transcript

NM_144703.3

Inheritance

—

ClinVar variants

U:45B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.05

Max pathogenic AF

—

Genomic locus

chr20:62,122,461-62,135,374

External References & Databases

Ensembl (ENSG00000149657)

Transcript & Mutation Effects

hg38 • Region Span ~12.9 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 LSM14B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 41

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144703.3. 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						0
missense			42 clinvar	2 clinvar		44
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	45	2	0	47

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144703.3	RefSeq	NP_653304.2	8	MANE Select
ENST00000279068.11	Ensembl	ENSP00000279068.5	8	MANE Select
ENST00000279069.11	Ensembl	ENSP00000279069.7	5	Standard
ENST00000361670.3	Ensembl	ENSP00000355209.3	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of translation
multicellular organism development

Molecular Function

RNA binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000279068
Coding exons: 8
Length: 12918
Individuals with no LoFs: 124617
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 124619
p: 0.00000802

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.69	167	241	0.694	0.0000150	2492
Missense (PolyPhen)		63	111.14	0.56683		1128
Synonymous	-0.184	107	105	1.02	0.00000717	786
Loss of Function	3.97	1	20.3	0.0493	0.00000140	197

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
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

Function: FUNCTION: May play a role in control of mRNA translation. {ECO:0000250}.;

Recessive Scores

pRec: 0.111

Intolerance Scores

LoFtool: 0.466
RVIS EVS: -0.34
RVIS percentile EVS: 30.37

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.704

Gene Damage Prediction

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