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Guidelines

MIRAGE

mutS homolog 4

Summary

Gene Symbol

MSH4

Organism

Homo sapiens (human)

External Links

NCBI Gene

4438

PubChem

4438

Alliance of Genome Resources

HGNC:7327

Annotation

Keyword

ATP-binding
Chromosome
DNA-binding
Disease variant
Meiosis
Premature ovarian failure
Proteomics identification
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
O15457

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

1

2

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GO Term	Evidence Code	PMID
ovarian follicle development	IEA
mismatch repair	IEA
homologous chromosome pairing at meiosis	IEA
reciprocal meiotic recombination	IBA
spermatogenesis	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

cellular process [inference]

cell cycle process [inference]

meiotic cell cycle process [inference]

reciprocal meiotic recombination

chromosome organization involved in meiotic cell cycle [inference]

homologous chromosome pairing at meiosis

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

DNA metabolic process [inference]

DNA repair [inference]

mismatch repair

DNA recombination [inference]

homologous recombination [inference]

reciprocal homologous recombination [inference]

reciprocal meiotic recombination

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

mismatch repair

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

chromosome organization [inference]

chromosome organization involved in meiotic cell cycle [inference]

homologous chromosome pairing at meiosis

reproductive process [inference]

developmental process involved in reproduction [inference]

multicellular organismal reproductive process [inference]

gamete generation [inference]

female gamete generation

male gamete generation [inference]

spermatogenesis

meiotic cell cycle process [inference]

reciprocal meiotic recombination

chromosome organization involved in meiotic cell cycle [inference]

homologous chromosome pairing at meiosis

developmental process [inference]

developmental process involved in reproduction [inference]

anatomical structure development [inference]

ovarian follicle development

response to stimulus [inference]

response to stress [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

mismatch repair

cellular response to stimulus [inference]

cellular response to stress [inference]

DNA damage response [inference]

DNA repair [inference]

mismatch repair

Displaying **all 4** entries
GO Term	Evidence Code	PMID
synaptonemal complex	IEA
nucleus	IBA
chromosome	ISS
recombination nodule	IEA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

recombination nodule

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

chromosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

chromosome

synaptonemal structure [inference]

synaptonemal complex

Displaying entries **1 - 5** of 6 in total

1

2

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GO Term	Evidence Code	PMID
DNA binding	TAS	9299235
double-stranded DNA binding	IBA
protein binding	IPI	16397227 22401567 23725059
ATP binding	IEA
mismatched DNA binding	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

catalytic activity, acting on a nucleic acid [inference]

catalytic activity, acting on DNA [inference]

ATP-dependent activity, acting on DNA [inference]

ATP-dependent DNA damage sensor activity

binding [inference]

protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ion binding [inference]

anion binding [inference]

purine ribonucleoside triphosphate binding [inference]

ATP binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

double-stranded DNA binding

mismatched DNA binding

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

purine ribonucleoside triphosphate binding [inference]

ATP binding

carbohydrate derivative binding [inference]

ribonucleotide binding [inference]

purine ribonucleotide binding [inference]

adenyl ribonucleotide binding [inference]

ATP binding

small molecule sensor activity [inference]

DNA damage sensor activity [inference]

ATP-dependent DNA damage sensor activity

ATP-dependent activity [inference]

ATP-dependent activity, acting on DNA [inference]

ATP-dependent DNA damage sensor activity

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

dna mismatch repair

Functional Category

K: Transcription
L: Replication, recombination and repair
V: Defense mechanisms

Displaying **all 3** entries
Gene Ontology
ATP binding
ATP-dependent DNA damage sensor activity
nucleotide binding

Displaying **all 10** entries
InterPro
DNA mismatch repair MutS family
DNA mismatch repair protein MutS, C-terminal
DNA mismatch repair protein MutS, N-terminal
DNA mismatch repair protein MutS, connector domain
DNA mismatch repair protein MutS, core domain superfamily
DNA mismatch repair protein MutS, core
DNA mismatch repair protein MutS-like, N-terminal
DNA mismatch repair protein MutS/MSH
MutS, connector domain superfamily
P-loop containing nucleoside triphosphate hydrolase

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0070164	spermatogenic failure 2	Alliance of Genome Resources
DOID:5426	primary ovarian insufficiency	Alliance of Genome Resources

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025