CNPPD1

Cyclin-dependent kinase 2-associated protein 1 (CDK2AP1) pseudogene 1

Gene Information Card

Symbol CNPPD1
Full Name Cyclin-dependent kinase 2-associated protein 1 pseudogene 1
Gene Type Pseudogene
Chromosomal Location 2q35
NCBI Gene ID 64429 ncbi.nlm.nih.gov/gene/64429
Ensembl ID ENSG00000214842
UniProt ID None
OMIM ID None
HGNC ID HGNC:24283
Aliases CDK2AP1P1, dJ1033B10.2

Description

CNPPD1 is a pseudogene of the CDK2AP1 gene, located on chromosome 2q35. It is classified as a processed pseudogene and is not expected to produce a functional protein. The gene is transcribed in some tissues but lacks a complete open reading frame.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
No known disease associations Not applicable No evidence in ClinVar or OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 0.3 Not detected
Brain 0.1 Not detected
Liver 0.0 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 0.0 Not detected
HeLa 0.0 Not detected
K562 0.0 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
No reported variants Not applicable Not applicable Not applicable
Mutation functional classification

Loss of Function (LOF)

Not applicable (pseudogene)

Gain of Function (GOF)

Not applicable (pseudogene)

Dominant Negative (DN)

Not applicable (pseudogene)

Protein Summary

CNPPD1 is a pseudogene and does not encode a protein. No UniProt entry exists.

Related Products

Product name Cat.No. Species Gene ID
CNPPD1 Knockout HEK293 Cell Line EDJ-KQ51197 Human 27013 Details Get a Quote
CNPPD1 Knockout HeLa Cell Line EDJ-KQ55982 Human 27013 Details Get a Quote
CNPPD1 Knockout A-549 Cell Line EDJ-KQ64466 Human 27013 Details Get a Quote
CNPPD1 Knockout HCT 116 Cell Line EDJ-KQ72924 Human 27013 Details Get a Quote
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