RNF32

protein-coding

ring finger protein 32, the group of Ring finger proteins

Gene summary

The protein encoded by this gene contains two RING ring finger motifs. RING finger motifs are present in a variety of functionally distinct proteins and are known to be involved in protein-DNA or protein-protein interactions. This gene was found to be expressed during spermatogenesis, most likely in spermatocytes and/or in spermatids. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

MANE transcript

NM_030936.4

Inheritance

—

ClinVar variants

U:47B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.08

Max pathogenic AF

—

Genomic locus

chr7:156,640,281-156,677,130

External References & Databases

Ensembl (ENSG00000105982)

Transcript & Mutation Effects

hg38 • Region Span ~36.8 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 RNF32 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 47

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_030936.4. 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			45 clinvar	2 clinvar		47
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	47	2	0	49

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 73 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_030936.4	RefSeq	NP_112198.1	8	MANE Select
ENST00000317955.10	Ensembl	ENSP00000315950.5	8	MANE Select
NM_001184996.2	RefSeq	NP_001171925.1	8	Standard
NM_001184997.1	RefSeq	NP_001171926.1	8	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
metal ion binding

Cellular Component

endosome
aggresome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000405335
Coding exons: 8
Length: 36850
Individuals with no LoFs: 116530
Homozygous LoFs: 316
Heterozygous LoFs: 8902
Defined: 125748
p: 0.0374

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.281	192	203	0.945	0.0000112	2352
Missense (PolyPhen)		62	71.328	0.86922		830
Synonymous	-0.0894	79	78.0	1.01	0.00000449	688
Loss of Function	-0.338	22	20.4	1.08	0.00000108	239

Population LoF Frequency

Population	CAF	p-value	Status
African	0.11	0.11	notable
Latino/Admixed American	0.022	0.022	notable
Ashkenazi Jewish	0.013	0.013	notable
East Asian	0.12	0.12	notable
Finnish	0.026	0.025	notable
European (Non-Finnish)	0.032	0.032	notable
South Asian	0.016	0.013	notable
Other	0.030	0.029	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in sperm formation. {ECO:0000269|PubMed:11890671}.;

Recessive Scores

pRec: 0.108

Intolerance Scores

LoFtool: 0.663
RVIS EVS: 0.78
RVIS percentile EVS: 87.14

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.675

Gene Damage Prediction

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