MEIKIN

Summary

MEIKIN (meiotic kinetochore factor, HGNC:51253) is a protein-coding gene on chromosome 5q31.1, encoding Meiosis-specific kinetochore protein (A0A087WXM9). 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.

Predicted to be involved in meiotic chromosome segregation and meiotic sister chromatid cohesion. Predicted to be located in kinetochore.

Source: NCBI Gene 728637 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 8 total
• MANE Select transcript: NM_001303622

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:51253
Approved symbol	MEIKIN
Name	meiotic kinetochore factor
Location	5q31.1
Locus type	gene with protein product
Status	Approved
Aliases	SPO13
Ensembl gene	ENSG00000239642
Ensembl biotype	protein_coding
OMIM	616232
Entrez	728637

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000425320, ENST00000439905, ENST00000442687, ENST00000446743, ENST00000616644

RefSeq mRNA: 1 — MANE Select: NM_001303622 NM_001303622

CCDS: CCDS75292

Canonical transcript exons

ENST00000442687 — 13 exons

Exon	Start	End
ENSE00001792895	131806990	131807258
ENSE00003478732	131851264	131851383
ENSE00003715381	131933513	131933641
ENSE00003720476	131818740	131818863
ENSE00003728143	131878978	131879048
ENSE00003728959	131945156	131945249
ENSE00003734078	131942635	131942695
ENSE00003734097	131921822	131921941
ENSE00003740618	131854754	131854834
ENSE00003747159	131944665	131944752
ENSE00003748038	131911815	131911879
ENSE00003751472	131916886	131916925
ENSE00003844864	131945400	131945663

Expression profiles

Bgee: expression breadth ubiquitous, 121 present calls, max score 90.27.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4487 / max 33.9493, expressed in 135 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
63276	0.2656	102
63277	0.1371	72
63278	0.0460	16

Top tissues by expression

133 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.27	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.63	gold quality
right testis	UBERON:0004534	79.16	gold quality
testis	UBERON:0000473	78.99	gold quality
left testis	UBERON:0004533	78.70	gold quality
primary visual cortex	UBERON:0002436	69.14	gold quality
leukocyte	CL:0000738	66.17	gold quality
monocyte	CL:0000576	66.13	gold quality
granulocyte	CL:0000094	65.96	gold quality
superior frontal gyrus	UBERON:0002661	64.10	gold quality
right coronary artery	UBERON:0001625	63.45	gold quality
anterior cingulate cortex	UBERON:0009835	61.40	gold quality
Brodmann (1909) area 9	UBERON:0013540	60.93	gold quality
putamen	UBERON:0001874	60.88	gold quality
amygdala	UBERON:0001876	60.70	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	60.46	gold quality
cerebellar cortex	UBERON:0002129	60.30	gold quality
temporal lobe	UBERON:0001871	60.22	gold quality
Ammon’s horn	UBERON:0001954	60.19	gold quality
descending thoracic aorta	UBERON:0002345	60.18	gold quality
cerebellar hemisphere	UBERON:0002245	60.12	gold quality
cerebellum	UBERON:0002037	60.05	gold quality
caudate nucleus	UBERON:0001873	59.74	gold quality
right frontal lobe	UBERON:0002810	59.73	gold quality
right hemisphere of cerebellum	UBERON:0014890	58.41	gold quality
cerebral cortex	UBERON:0000956	58.15	gold quality
nucleus accumbens	UBERON:0001882	57.88	gold quality
thoracic aorta	UBERON:0001515	56.41	gold quality
ascending aorta	UBERON:0001496	56.30	gold quality
brain	UBERON:0000955	56.29	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.01

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting MEIKIN, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481
HSA-MIR-548J-5P	99.94	71.14	3489
HSA-MIR-548O-5P	99.94	71.24	3488
HSA-MIR-548W	99.94	71.24	3488
HSA-MIR-548Y	99.94	71.28	3514
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-6505-5P	99.73	69.25	1595

Literature-anchored findings (GeneRIF, showing 1)

• Single marker analysis indicated that SNP5 (rs1355095) in LOC728637 is associated with schizophrenia in Han Chinese. (PMID:18718982)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Meikin	ENSMUSG00000020332
rattus_norvegicus	Meikin	ENSRNOG00000026596

Protein

Protein identifiers

Meiosis-specific kinetochore protein — A0A087WXM9 (reviewed: A0A087WXM9)

All UniProt accessions (3): A0A087WXM9, A0A0G2JND4, A0A0J9YXL7

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Interacts with CENPC. Interacts with PLK1; required for recruitment of PLK1 at kinetochores.

Subcellular location. Chromosome. Centromere. Kinetochore.

RefSeq proteins (1): NP_001290551* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR034545	Meikin	Family

UniProt features (6 total): region of interest 3, chain 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A087WXM9-F1	54.26	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 48 (showing top): GOBP_MEIOTIC_CHROMOSOME_SEGREGATION, GOBP_CHROMOSOME_ORGANIZATION, GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANELLE_FISSION, GOBP_SISTER_CHROMATID_COHESION, GOBP_FEMALE_GAMETE_GENERATION, GOBP_HOMOLOGOUS_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, GOBP_NUCLEAR_CHROMOSOME_SEGREGATION, GOBP_MEIOTIC_CELL_CYCLE, GOCC_CHROMOSOMAL_REGION, chr5q31, GOCC_CONDENSED_CHROMOSOME_CENTROMERIC_REGION, GOBP_CELL_CYCLE_PROCESS, GOBP_CHROMOSOME_SEGREGATION

GO Biological Process (7): male meiosis chromosome segregation (GO:0007060), meiosis I sister chromatid cohesion (GO:0010789), female meiosis chromosome segregation (GO:0016321), homologous chromosome segregation (GO:0045143), meiotic sister chromatid cohesion, centromeric (GO:0051754), chromosome segregation (GO:0007059), meiotic cell cycle (GO:0051321)

GO Molecular Function (0):

GO Cellular Component (4): kinetochore (GO:0000776), condensed chromosome, centromeric region (GO:0000779), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
meiotic chromosome segregation	3
meiotic sister chromatid cohesion	2
intracellular membraneless organelle	2
male meiotic nuclear division	1
female meiotic nuclear division	1
meiosis I	1
centromeric sister chromatid cohesion	1
cell cycle process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
meiotic nuclear division	1
condensed chromosome, centromeric region	1
supramolecular complex	1
chromosome, centromeric region	1
condensed chromosome	1
chromosomal region	1

Protein interactions and networks

STRING

336 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MEIKIN	REC8	O95072	696
MEIKIN	SGO1	Q5FBB7	656
MEIKIN	CENPC	Q03188	610
MEIKIN	PLK1	P53350	607
MEIKIN	SGO2	Q562F6	583
MEIKIN	ESPL1	Q14674	581
MEIKIN	KCTD19	Q17RG1	535
MEIKIN	PSMA8	Q8TAA3	473
MEIKIN	H0YEC1	H0YEC1	463
MEIKIN	TEX38	Q6PEX7	455
MEIKIN	NCAPG2	Q86XI2	445
MEIKIN	HORMAD2	Q8N7B1	438
MEIKIN	FREY1	C9JXX5	419
MEIKIN	WAPL	Q7Z5K2	412
MEIKIN	FAM194C	Q8ND61	411
MEIKIN	NUDC	Q9Y266	411

IntAct

10 interactions, top by confidence:

A	B	Type	Score
MEIKIN	RPL10A	psi-mi:“MI:0915”(physical association)	0.400
MEIKIN	ARL6IP5	psi-mi:“MI:0915”(physical association)	0.400
MEIKIN	KRT18	psi-mi:“MI:0915”(physical association)	0.400
MEIKIN	VIM	psi-mi:“MI:0915”(physical association)	0.400
MEIKIN	KRT6C	psi-mi:“MI:0915”(physical association)	0.400
MEIKIN	KRT8	psi-mi:“MI:0915”(physical association)	0.400
CENPC	MEIKIN	psi-mi:“MI:0915”(physical association)	0.370
MEIKIN	PLK1	psi-mi:“MI:0915”(physical association)	0.370
CAPZB	ENAH	psi-mi:“MI:0914”(association)	0.350

BioGRID (8): ARL6IP5 (Proximity Label-MS), KRT18 (Proximity Label-MS), KRT8 (Proximity Label-MS), KRT6C (Proximity Label-MS), VIM (Proximity Label-MS), RPL10A (Proximity Label-MS), LOC728637 (Cross-Linking-MS (XL-MS)), LOC728637 (Cross-Linking-MS (XL-MS))

ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1

Diamond homologs: A0A087WXM9, Q5F2C3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

8 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2332 predictions. Top by Δscore:

Variant	Effect	Δscore
5:131818735:AGTAC:A	donor_loss	1.0000
5:131818736:GTA:G	donor_loss	1.0000
5:131818737:TA:T	donor_loss	1.0000
5:131818737:TACC:T	donor_loss	1.0000
5:131818738:A:AG	donor_loss	1.0000
5:131818738:A:AT	donor_loss	1.0000
5:131818739:CCTT:C	donor_loss	1.0000
5:131818860:GAAA:G	acceptor_gain	1.0000
5:131818860:GAAAC:G	acceptor_loss	1.0000
5:131818861:AAAC:A	acceptor_loss	1.0000
5:131818862:AA:A	acceptor_gain	1.0000
5:131818863:AC:A	acceptor_loss	1.0000
5:131818863:ACT:A	acceptor_loss	1.0000
5:131818864:C:CC	acceptor_gain	1.0000
5:131818864:CTGGA:C	acceptor_loss	1.0000
5:131818865:T:C	acceptor_loss	1.0000
5:131818865:T:G	acceptor_loss	1.0000
5:131916880:TCTTA:T	donor_loss	1.0000
5:131916881:CTTAC:C	donor_loss	1.0000
5:131916882:TTACG:T	donor_loss	1.0000
5:131916883:TA:T	donor_loss	1.0000
5:131916883:TAC:T	donor_loss	1.0000
5:131916884:A:AC	donor_gain	1.0000
5:131916884:ACGTT:A	donor_loss	1.0000
5:131916885:C:CT	donor_gain	1.0000
5:131916885:CG:C	donor_gain	1.0000
5:131916885:CGT:C	donor_gain	1.0000
5:131916925:CCTA:C	acceptor_loss	1.0000
5:131916926:CTA:C	acceptor_loss	1.0000
5:131916927:T:C	acceptor_loss	1.0000

AlphaMissense

2422 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:131921873:C:G	A183P	0.917
5:131921898:A:C	N174K	0.904
5:131921898:A:T	N174K	0.904
5:131921877:A:C	S181R	0.892
5:131921877:A:T	S181R	0.892
5:131921879:T:G	S181R	0.892
5:131933529:T:A	R154S	0.883
5:131933529:T:G	R154S	0.883
5:131921890:A:G	L177P	0.872
5:131921897:A:G	S175P	0.871
5:131921887:A:G	L178P	0.867
5:131818832:A:C	I336S	0.866
5:131818832:A:G	I336T	0.865
5:131818839:A:G	C334R	0.862
5:131921872:G:T	A183E	0.852
5:131854784:A:C	S275R	0.851
5:131854784:A:T	S275R	0.851
5:131854786:T:G	S275R	0.851
5:131818837:A:C	C334W	0.846
5:131933532:G:C	F153L	0.842
5:131933532:G:T	F153L	0.842
5:131933534:A:G	F153L	0.842
5:131818832:A:T	I336N	0.815
5:131945502:A:G	W2R	0.803
5:131945502:A:T	W2R	0.803
5:131933539:T:A	E151V	0.798
5:131921887:A:T	L178Q	0.794
5:131933538:T:A	E151D	0.794
5:131933538:T:G	E151D	0.794
5:131818829:A:C	I337S	0.788

dbSNP variants (sampled 300 via entrez): RS1000005221 (5:131902370 T>C), RS1000010804 (5:131945516 C>A), RS1000064268 (5:131908414 G>A), RS1000094942 (5:131908241 G>A,C), RS1000102616 (5:131893262 T>C), RS1000111963 (5:131830775 G>A,C), RS1000126138 (5:131938169 T>C), RS1000132817 (5:131890170 T>C), RS1000136234 (5:131839558 T>C), RS1000151552 (5:131876120 G>A), RS1000164654 (5:131896354 A>C,G), RS1000208293 (5:131889918 A>T), RS1000212479 (5:131939628 T>C), RS1000217463 (5:131885576 G>A,C), RS1000226837 (5:131821977 T>A)

Disease associations

OMIM: gene MIM:616232 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.