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P55795 Proteins with OtherRepeats Repeats

Uniprot ID: P55795	Protein name : Heterogeneous nuclear ribonucleoprotein H2	Gene : HNRNPH2 FTP3 HNRPH2
Protein Families :	Squence Length : 449

Sequence	>P55795 450 MMLSTEGREGFVVKVRGLPWSCSADEVMRFFSDCKIQNGTSGIRFIYTREGRPSGEAFVELESEEEVKLALKKDRETMGHRYVEVFKSNSVEMDWVLKHTGPNSPDTANDGFVRLRGLPFGCSKEEIVQFFSGLEIVPNGMTLPVDFQGRSTGEAFVQFASQEIAEKALKKHKERIGHRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGGYGGYDDYGGYNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSSFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPMRVHIEIGPDGRVTGEADVEFATHEDAVAAMAKDKANMQHRYVELFLNSTAGTSGGAYDHSYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGGYGGGYGGQSSMSGYDQVLQENSSDYQSNLA
Repeat regions	REPEAT 234 249 1-1 REPEAT 354 372 2-1 REPEAT 374 392 2-2 REPEAT 418 433 1-2
Sequence region of repeats	234- 249 YGGGYGGYDDYGGYND 354- 372 YVELFLNSTAGTSGGAYDH 374- 392 YVELFLNSTAGASGGAYGS 418- 433 YGGGYGGQSSMSGYDQ
Domains	DOMAIN 11 90 RRM 1. DOMAIN 111 188 RRM 2. DOMAIN 289 364 RRM 3
Function	"This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG)"
Mutation
Disease	"DISEASE: Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features Only females are affected Note=The disease is caused by mutations affecting the gene represented in this entry"