MSH4
entrez
4438
canonical
uniprot
O15457
canonical
ensembl
ENSG00000057468
resolver
ensp
ENSP00000263187
resolver
enst
ENST00000263187
resolver
genesymbol
MSH4
resolver
hgnc
HGNC:7327
resolver
uniprot
Q5T4U6
resolver
uniprot
Q8NEB3
resolver
uniprot
Q9UNP8
resolver
uniprot_entry
MSH4_HUMAN
resolver
uniprot_sec
Q5T4U6
resolver
uniprot_sec
Q8NEB3
resolver
uniprot_sec
Q9UNP8
resolver
amino_acid_sequence
MLRPEISSTSPSAPAVSPSSGETRSPQGPRYNFGLQETPQSRPSVQVVSASTCPGTSGAAGDRSSSSSSLPCPAPNSRPAQGSYFGNKRAYAENTVASNFTFGASSSSARDTNYPQTLKTPLSTGNPQRSGYKSWTPQVGYSASSSSAISAHSPSVIVAVVEGRGLARGEIGMASIDLKNPQIILSQFADNTTYAKVITKLKILSPLEIIMSNTACAVGNSTKLFTLITENFKNVNFTTIQRKYFNETKGLEYIEQLCIAEFSTVLMEVQSKYYCLAAVAALLKYVEFIQNSVYAPKSLKICFQGSEQTAMIDSSSAQNLELLINNQDYRNNHTLFGVLNYTKTPGGSRRLRSNILEPLVDIETINMRLDCVQELLQDEELFFGLQSVISRFLDTEQLLSVLVQIPKQDTVNAAESKITNLIYLKHTLELVDPLKIAMKNCNTPLLRAYYGSLEDKRFGIILEKIKTVINDDARYMKGCLNMRTQKCYAVRSNINEFLDIARRTYTEIVDDIAGMISQLGEKYSLPLRTSFSSARGFFIQMTTDCIALPSDQLPSEFIKISKVKNSYSFTSADLIKMNERCQESLREIYHMTYMIVCKLLSEIYEHIHCLYKLSDTVSMLDMLLSFAHACTLSDYVRPEFTDTLAIKQGWHPILEKISAEKPIANNTYVTEGSNFLIITGPNMSGKSTYLKQIALCQIMAQIGSYVPAEYSSFRIAKQIFTRISTDDDIETNSSTFMKEMKEIAYILHNANDKSLILIDELGRGTNTEEGIGICYAVCEYLLSLKAFTLFATHFLELCHIDALYPNVENMHFEVQHVKNTSRNKEAILYTYKLSKGLTEEKNYGLKAAEVSSLPPSIVLDAKEITTQITRQILQNQRSTPEMERQRAVYHLATRLVQTARNSQLDPDSLRIYLSNLKKKYKEDFPRTEQVPEKTEE
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 2 (SPGF2) [MIM:108420]: An autosomal recessive disorder characterized by male infertility due to non-obstructive azoospermia. Testicular histopathology reveals no round spermatids or spermatozoa in the seminiferous tubules of SPGF2 patients, consistent with meiotic arrest. {ECO:0000269|PubMed:32741963, ECO:0000269|PubMed:33437391, ECO:0000269|PubMed:33448284, ECO:0000269|PubMed:34755185, ECO:0000269|PubMed:35090489}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Premature ovarian failure 20 (POF20) [MIM:619938]: A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF20 inheritance is autosomal recessive. {ECO:0000269|PubMed:28541421, ECO:0000269|PubMed:33448284, ECO:0000269|PubMed:34755185}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis.
uniprot
proteins
mass_dalton
104756
uniprot
proteins
protein_family
DNA mismatch repair MutS family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
28541421
uniprot
proteins
pubmed
32741963
uniprot
proteins
pubmed
33437391
uniprot
proteins
pubmed
33448284
uniprot
proteins
pubmed
34755185
uniprot
proteins
pubmed
35090489
uniprot
proteins
pubmed
9299235
uniprot
proteins
sequence_length
936
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q99MT2}.
uniprot
proteins