RBM6

protein-coding

RNA binding motif protein 6, the group of RNA binding motif containing|G-patch domain containing

Gene summary

Enables RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_005777.3

Inheritance

—

ClinVar variants

U:136B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.06

Max pathogenic AF

—

Genomic locus

chr3:49,940,007-50,100,045

External References & Databases

Ensembl (ENSG00000004534)

Transcript & Mutation Effects

hg38 • Region Span ~160.0 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 RBM6 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 130

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_005777.3. 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	3 clinvar	1 clinvar	6
missense			126 clinvar	7 clinvar	2 clinvar	135
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			8 clinvar			8
Total	0	0	136	10	3	149

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 61 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_005777.3	RefSeq	NP_005768.1	20	MANE Select
ENST00000266022.9	Ensembl	ENSP00000266022.4	20	MANE Select
NM_001167582.2	RefSeq	NP_001161054.1	15	Standard
NM_001349190.2	RefSeq	NP_001336119.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

RNA processing

Molecular Function

DNA binding
RNA binding
protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000266022
Coding exons: 20
Length: 160039
Individuals with no LoFs: 125739
Homozygous LoFs: 0
Heterozygous LoFs: 8
Defined: 125747
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.17	475	628	0.756	0.0000343	7389
Missense (PolyPhen)		113	198.24	0.57002		2409
Synonymous	1.52	189	217	0.869	0.0000114	2097
Loss of Function	7.14	4	67.2	0.0596	0.00000425	719

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	0.000046	0.000046	rare
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Specifically binds poly(G) RNA homopolymers in vitro.;

Recessive Scores

pRec: 0.0867

Intolerance Scores

LoFtool: 0.121
RVIS EVS: -0.55
RVIS percentile EVS: 20

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0595

Gene Damage Prediction

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