RBM44

protein-coding

RNA binding motif protein 44, the group of RNA binding motif containing

Gene summary

Predicted to enable mRNA 3'-UTR binding activity and protein homodimerization activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be located in cytoplasm and intercellular bridge. Predicted to be part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001080504.3

Inheritance

—

ClinVar variants

U:123B:16

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.32

Max pathogenic AF

—

Genomic locus

chr2:237,798,389-237,842,808

External References & Databases

Ensembl (ENSG00000177483)

Transcript & Mutation Effects

hg38 • Region Span ~44.4 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 RBM44 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 138

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080504.3. 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			1 clinvar	1 clinvar		2
missense			122 clinvar	15 clinvar		137
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	123	16	0	139

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080504.3	RefSeq	NP_001073973.3	14	MANE Select
ENST00000316997.9	Ensembl	ENSP00000321179.5	14	MANE Select
ENST00000409864.6	Ensembl	ENSP00000386727.2	14	Standard
XM_005246075.2	RefSeq	XP_005246132.1	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

RNA binding
protein homodimerization activity

Cellular Component

cytoplasm
intercellular bridge

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000316997
Coding exons: 14
Length: 44420
Individuals with no LoFs: 124582
Homozygous LoFs: 0
Heterozygous LoFs: 27
Defined: 124609
p: 0.000108

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.260	467	483	0.967	0.0000225	6917
Missense (PolyPhen)		96	122.09	0.7863		1801
Synonymous	1.01	160	177	0.904	0.00000887	1887
Loss of Function	4.01	13	40.6	0.320	0.00000179	645

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.00016	0.00014	rare
Ashkenazi Jewish	0.00011	0.000099	rare
East Asian	0.00046	0.00045	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000092	0.000089	rare
South Asian	0.00010	0.000098	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of intercellular bridges during meiosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells. Not required for fertility (By similarity). {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.934
RVIS EVS: 0.34
RVIS percentile EVS: 73.68

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0885

Gene Damage Prediction

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