SPDYE16

protein-coding

speedy/RINGO cell cycle regulator family member E16, the group of Speedy/RINGO cell cycle regulator family

Gene summary

Predicted to enable protein kinase binding activity. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001394943.1

Inheritance

—

ClinVar variants

B:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr7:76,531,313-76,543,297

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~12.0 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 SPDYE16 variants in ClinVar

1 Conditions Cataloged
not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001394943.1. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
1
clinvar
1
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total000101
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001394943.1RefSeqNP_001381872.17MANE Select
ENST00000633306.2EnsemblENSP00000487772.27MANE Select
NM_001351597.1RefSeqNP_001338526.16Standard
ENST00000515340.2EnsemblENSP00000488825.17Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Oocyte meiosis - Homo sapiens (human)
  • Progesterone-mediated oocyte maturation - Homo sapiens (human)

Molecular Function

  • protein kinase binding

dbNSFP Gene Annotations

Source: dbNSFP

For research and educational, non-commercial use only. Not for clinical or diagnostic use. GeneBe does not provide medical advice. Data use for AI modeling is prohibited: if used, the cost is $0.001 per byte of downloaded uncompressed data.