SPDYE12

Summary

SPDYE12 (speedy/RINGO cell cycle regulator family member E12, HGNC:51508) is a protein-coding gene on chromosome 7q11.23, encoding Speedy protein E12 (P0DUX1).

Predicted to enable protein kinase binding activity.

Source: NCBI Gene 100101268 — RefSeq curated summary.

At a glance

• MANE Select transcript: NM_001382555

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51508
Approved symbol	SPDYE12
Name	speedy/RINGO cell cycle regulator family member E12
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184616
Ensembl biotype	protein_coding
Entrez	100101268

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000618416

RefSeq mRNA: 1 — MANE Select: NM_001382555 NM_001382555

CCDS: CCDS94123

Canonical transcript exons

ENST00000618416 — 8 exons

Exon	Start	End
ENSE00002432756	74906852	74907095
ENSE00002440883	74909522	74909607
ENSE00002506864	74910837	74910895
ENSE00002533560	74911929	74912147
ENSE00003713178	74906625	74906729
ENSE00003843738	74913151	74913733
ENSE00003926042	74904289	74905771
ENSE00003931359	74914957	74915078

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 77.90.

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.90	silver quality
stromal cell of endometrium	CL:0002255	68.68	gold quality
cortical plate	UBERON:0005343	67.18	gold quality
primary visual cortex	UBERON:0002436	64.36	gold quality
superior frontal gyrus	UBERON:0002661	63.55	gold quality
prefrontal cortex	UBERON:0000451	61.25	gold quality
hindlimb stylopod muscle	UBERON:0004252	60.77	gold quality
frontal cortex	UBERON:0001870	59.91	gold quality
apex of heart	UBERON:0002098	58.59	gold quality
skeletal muscle tissue	UBERON:0001134	57.81	gold quality
testis	UBERON:0000473	57.69	gold quality
left testis	UBERON:0004533	57.48	gold quality
mucosa of transverse colon	UBERON:0004991	57.28	gold quality
cerebral cortex	UBERON:0000956	57.26	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	56.94	gold quality
right frontal lobe	UBERON:0002810	56.72	gold quality
ganglionic eminence	UBERON:0004023	55.82	gold quality
right testis	UBERON:0004534	55.39	gold quality
muscle tissue	UBERON:0002385	55.37	gold quality
anterior cingulate cortex	UBERON:0009835	55.07	gold quality
Brodmann (1909) area 9	UBERON:0013540	55.05	gold quality
cerebellum	UBERON:0002037	54.95	gold quality
cerebellar cortex	UBERON:0002129	54.70	gold quality
cerebellar hemisphere	UBERON:0002245	54.37	gold quality
brain	UBERON:0000955	54.28	gold quality
hypothalamus	UBERON:0001898	54.17	gold quality
gastrocnemius	UBERON:0001388	54.12	gold quality
substantia nigra	UBERON:0002038	53.96	gold quality
right hemisphere of cerebellum	UBERON:0014890	53.62	gold quality
muscle of leg	UBERON:0001383	53.50	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.49

Regulation

Is transcription factor: no

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Spdye4b	ENSMUSG00000029586
mus_musculus	Spdye4a	ENSMUSG00000039296
rattus_norvegicus	Spdye4	ENSRNOG00000058563

Paralogs (18): SPDYE1 (ENSG00000136206), SPDYE5 (ENSG00000170092), SPDYE2B (ENSG00000173678), SPDYE4 (ENSG00000183318), SPDYE16 (ENSG00000185040), SPDYE17 (ENSG00000186645), SPDYE2 (ENSG00000205238), SPDYE18 (ENSG00000205482), SPDYE3 (ENSG00000214300), SPDYE21 (ENSG00000230358), SPDYE6 (ENSG00000260097), SPDYE9 (ENSG00000262461), SPDYE8 (ENSG00000273520), SPDYE10 (ENSG00000274570), SPDYE11 (ENSG00000275976), SPDYE15 (ENSG00000286014), SPDYE13 (ENSG00000286038), SPDYE14 (ENSG00000286137)

Protein

Protein identifiers

Speedy protein E12 — P0DUX1 (reviewed: P0DUX1)

All UniProt accessions (1): P0DUX1

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the Speedy/Ringo family.

RefSeq proteins (1): NP_001369484* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR020984	Speedy	Family
IPR057742	Speedy_E	Family

Pfam: PF11357

UniProt features (4 total): compositionally biased region 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DUX1-F1	70.78	0.42

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 3 (showing top): chr7q11, GOMF_KINASE_BINDING, DESCARTES_MAIN_FETAL_THYMIC_EPITHELIAL_CELLS

GO Biological Process (1): positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)

GO Molecular Function (1): protein kinase binding (GO:0019901)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of cyclin-dependent protein serine/threonine kinase activity	1
cyclin-dependent protein serine/threonine kinase activity	1
positive regulation of cell cycle	1
positive regulation of protein serine/threonine kinase activity	1
positive regulation of cyclin-dependent protein kinase activity	1
kinase binding	1

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A0J9YY54, A0A494C086, A0A494C0Z2, A0A494C191, A6NHP3, A6NIY4, A6NJR5, A6NNV3, B4DH59, F6SZT2, P0C6Y7, P0CI01, P0DKJ7, P0DKJ8, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, P79386, Q08AG5, Q13342, Q16666, Q3BBV2, Q495Y8, Q587J8, Q5JRC9, Q5QGU6, Q5RD14, Q5RKG3, Q63HK3, Q6ITT4, Q7TQI8, Q86T75, Q8IWY8, Q8N660, Q8NFV5

Diamond homologs: A0A494C086, A0A494C0Z2, A0A494C191, A6NHP3, A6NIY4, A6NJR5, A6NKU9, A6NLX3, A6NNV3, P0CI01, P0DTA3, P0DUD1, P0DUD2, P0DUD3, P0DUD4, P0DUX0, P0DUX1, P0DV79, Q495Y7, Q495Y8, Q5IBH6, Q5IBH7, Q5MJ68, Q5MJ70, Q8NFV5, Q8R496, Q9PU13, Q9YGL1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

1742 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS111252476 (7:74909465 TC>T,TCC), RS111422494 (7:74908163 C>G,T), RS111795660 (7:74914426 G>T), RS111871737 (7:74909033 GTTTTTTT>G,GTT,GTTT,GTTTT,GTTTTT,GTTTTTT,GTTTTTTTT,GTTTTTTTTTTTTTTTTTTGGTTTTTTTTT,GTTTTTTTTT,GTTTTTTTTTT,GTTTTTTTTTTT,GTTTTTTTTTTTT,GTTTTTTTTTTTTTTTTTTTTT), RS112010742 (7:74908900 C>T), RS112076761 (7:74909737 T>C), RS112279144 (7:74908097 A>G), RS112623870 (7:74908860 T>C), RS113275837 (7:74914425 T>C,G), RS113510612 (7:74915025 A>G), RS113818938 (7:74907221 A>T), RS113938389 (7:74908903 G>C,T), RS1156396506 (7:74905994 C>G), RS1156638264 (7:74916557 C>T), RS1156835212 (7:74903955 G>A)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.