TPTEP2-CSNK1E

protein-coding

TPTEP2-CSNK1E readthrough

Gene summary

This locus represents naturally occurring readthrough transcription between the neighboring LOC400927 (transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene) and CSNK1E (casein kinase I isoform epsilon) genes on chromosome 22. The readthrough transcript encodes the same protein as the downstream gene product (casein kinase I isoform epsilon). [provided by RefSeq, Feb 2014]

MANE transcript

N/A

Inheritance

—

ClinVar variants

P:1U:10B:2

Top phenotype

Inborn genetic diseases

Max pathogenic AF

—

Genomic locus

chr22:38,291,918-38,398,522

External References & Databases

Ensembl (ENSG00000283900)

NCBI Gene (102800317)

HGNC:53829

GenCC

ClinVar (TPTEP2-CSNK1E)

Transcript & Mutation Effects

hg38 • Region Span ~106.6 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 TPTEP2-CSNK1E variants in ClinVar

4 Conditions Cataloged

Inborn genetic diseasesTotal: 7

not providedTotal: 5

12 conditionsTotal: 1

Developmental and epileptic encephalopathy, 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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
missense			10 clinvar			10
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	1 clinvar				1 clinvar	2
Total	1	0	10	0	2	13

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001289912.2	RefSeq	NP_001276841.1	9	Standard
ENST00000400206.7	Ensembl	ENSP00000383067.2	9	Standard

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates. Can phosphorylate a large number of proteins. Participates in Wnt signaling. Phosphorylates DVL1 and DVL2. Central component of the circadian clock. In balance with PP1, determines the circadian period length, through the regulation of the speed and rhythmicity of PER1 and PER2 phosphorylation. Controls PER1 and PER2 nuclear transport and degradation. Inhibits cytokine-induced granuloytic differentiation. {ECO:0000269|PubMed:12556519, ECO:0000269|PubMed:15070676, ECO:0000269|PubMed:15917222, ECO:0000269|PubMed:16790549, ECO:0000269|PubMed:23413191}.;