MEIKIN

protein-coding

meiotic kinetochore factor

Gene summary

Predicted to be involved in meiotic chromosome segregation and meiotic sister chromatid cohesion. Predicted to be located in kinetochore. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001303622.2

Inheritance

—

ClinVar variants

U:3B:2

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr5:131,806,990-131,945,698

External References & Databases

Ensembl (ENSG00000239642)

Transcript & Mutation Effects

hg38 • Region Span ~138.7 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 MEIKIN variants in ClinVar

1 Conditions Cataloged

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001303622.2. 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				2 clinvar		2
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	3	2	0	5

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001303622.2	RefSeq	NP_001290551.1	13	MANE Select
ENST00000442687.6	Ensembl	ENSP00000488568.1	13	MANE Select
ENST00000439905.5	Ensembl	ENSP00000488457.1	4	Standard
ENST00000616644.2	Ensembl	ENSP00000481155.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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

dbNSFP Gene Annotations

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}.;