PATL2
entrez
197135
canonical
uniprot
C9JE40
canonical
ensembl
ENSG00000229474
resolver
ensp
ENSP00000416673
resolver
ensp
ENSP00000453695
resolver
ensp
ENSP00000508024
resolver
ensp
ENSP00000560282
resolver
ensp
ENSP00000560283
resolver
ensp
ENSP00000560284
resolver
ensp
ENSP00000560285
resolver
ensp
ENSP00000560286
resolver
ensp
ENSP00000560287
resolver
ensp
ENSP00000611614
resolver
ensp
ENSP00000611615
resolver
enst
ENST00000434130
resolver
enst
ENST00000560780
resolver
enst
ENST00000682850
resolver
enst
ENST00000890223
resolver
enst
ENST00000890225
resolver
enst
ENST00000890226
resolver
enst
ENST00000890227
resolver
enst
ENST00000890228
resolver
enst
ENST00000941555
resolver
genesymbol
PATL2
resolver
hgnc
HGNC:33630
resolver
uniprot
H0YMQ2
resolver
uniprot_entry
H0YMQ2_HUMAN
resolver
uniprot_entry
PATL2_HUMAN
resolver
amino_acid_sequence
MNCLEGPGKTCGPLASEEELVSACQLEKEEENEGEEEEEEEDEEDLDPDLDPDLEEEENDLGDPAVLGAVHNTQRALLSSPGVKAPGMLGMSLASLHFLWQTLDYLSPIPFWPTFPSTSSPAQHFGPRLPSPDPTLFCSLLTSWPPRFSHLTQLHPRHQRILQQQQHSQTPSPPAKKPWSQQPDPYANLMTRKEKDWVIKVQMVQLQSAKPRLDDYYYQEYYQKLEKKQADEELLGRRNRVESLKLVTPYIPKAEAYESVVRIEGSLGQVAVSTCFSPRRAIDAVPHGTQEQDIEAASSQRLRVLYRIEKMFLQLLEIEEGWKYRPPPPCFSEQQSNQVEKLFQTLKTQEQNNLEEAADGFLQVLSVRKGKALVARLLPFLPQDQAVTILLAITHHLPLLVRRDVADQALQMLFKPLGKCISHLTLHELLQGLQGLTLLPPGSSERPVTVVLQNQFGISLLYALLSHGEQLVSLHSSLEEPNSDHTAWTDMVVLIAWEIAQMPTASLAEPLAFPSNLLPLFCHHVDKQLVQQLEARMEFAWIY
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 4 (OZEMA4) [MIM:617743]: An autosomal recessive infertility disorder characterized by oocyte maturation arrest that can occur at different stages of maturation. Some oocytes exhibit maturation arrest at the germinal vesicle stage and others at the metaphase I stage. Oocytes progressing to polar body I either undergo fertilization failure or, in those that are fertilized, early embryonic arrest. {ECO:0000269|PubMed:28965844, ECO:0000269|PubMed:28965849, ECO:0000269|PubMed:38954294}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: RNA-binding protein that acts as a translational repressor. {ECO:0000250|UniProtKB:Q4V7K4}.
uniprot
proteins
mass_dalton
61464
uniprot
proteins
protein_family
PAT1 family
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
20584987
uniprot
proteins
pubmed
28965844
uniprot
proteins
pubmed
28965849
uniprot
proteins
pubmed
38954294
uniprot
proteins
sequence_length
543
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:20584987, ECO:0000269|PubMed:28965849}. Nucleus {ECO:0000250|UniProtKB:A2ARM1}.
uniprot
proteins