KIF28P

kinesin family member 28, pseudogene, the group of Kinesins

Basic information

Region (hg38): 1:246771837-246839611

Links

ENSG00000223519

∙ NCBI:100130097 ∙ ∙ HGNC:49205 ∙ Uniprot:B7ZC32 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the KIF28P gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the KIF28P gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Microtubule-dependent motor protein required for mitochondrion morhology and transport of mitochondria in neuronal cells. {ECO:0000250}.;
Pathway: Vesicle-mediated transport;Membrane Trafficking;Kinesins;Factors involved in megakaryocyte development and platelet production;Hemostasis;COPI-dependent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Mouse Genome Informatics

Gene name: Kif28
Phenotype

Gene ontology

Biological process: mitochondrion organization;microtubule-based movement;cytoskeleton-dependent intracellular transport;organelle transport along microtubule
Cellular component: kinesin complex;microtubule;mitochondrial membrane
Molecular function: microtubule motor activity;ATP binding;microtubule binding;ATPase activity