MEIKIN

meiotic kinetochore factor

Basic information

Region (hg38): 5:131806990-131945698

Links

ENSG00000239642 ∙ NCBI:728637 ∙ OMIM:616232 ∙ HGNC:51253 ∙ Uniprot:A0A087WXM9 ∙ 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 MEIKIN gene.

• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEIKIN gene is commonly pathogenic or not. These statistics are base on transcript: NM_001303622.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	2	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Key regulator of kinetochore function during meiosis I: required both for mono-orientation of kinetochores on sister chromosomes and protection of centromeric cohesin from separase- mediated cleavage. Acts by facilitating kinetochore mono- orientation during meiosis I, when kinetochores on sister chromosomes face the same direction and are thus captured and pulled by spindle fibers from the same pole. Also required to prevent cleavage of cohesin at centromeres during meiosis I, possibly by acting as a regulator of the shugoshin-dependent protection pathway. Acts in collaboration with PLK1: required for PLK1 enrichment to kinetochores. Not required during meiosis II or mitosis. {ECO:0000250|UniProtKB:Q5F2C3}.

Mouse Genome Informatics

• Gene name: Meikin
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: male meiosis chromosome segregation;meiotic sister chromatid cohesion involved in meiosis I;female meiosis chromosome segregation;homologous chromosome segregation;meiotic sister chromatid cohesion, centromeric
• Cellular component: condensed chromosome kinetochore;condensed nuclear chromosome, centromeric region