TMEM222
entrez
84065
canonical
uniprot
Q9H0R3
canonical
ensembl
ENSG00000186501
resolver
ensp
ENSP00000363189
resolver
genesymbol
TMEM222
resolver
genesymbol_syn
C1orf160
resolver
hgnc
HGNC:25363
resolver
uniprot
D3DPL6
resolver
uniprot
Q53HD8
resolver
uniprot
Q5FVE9
resolver
uniprot_entry
TM222_HUMAN
resolver
uniprot_sec
D3DPL6
resolver
uniprot_sec
Q53HD8
resolver
uniprot_sec
Q5FVE9
resolver
amino_acid_sequence
MAEAEGSSLLLLPPPPPPPRMAEVEAPTAAETDMKQYQGSGGVAMDVERSRFPYCVVWTPIPVLTWFFPIIGHMGICTSTGVIRDFAGPYFVSEDNMAFGKPAKYWKLDPAQVYASGPNAWDTAVHDASEEYKHRMHNLCCDNCHSHVALALNLMRYNNSTNWNMVTLCFFCLLYGKYVSVGAFVKTWLPFILLLGIILTVSLVFNLR
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities (NEDMOSBA) [MIM:619470]: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, speech delay, delayed walking, and behavioral abnormalities. Some patients develop spastic tetraplegia with inability to walk independently and never gain proper speech. Affected individuals may have variable additional features, including poor overall growth, hypotonia, tremor, ocular anomalies, seizures, and non-specific dysmorphic facial features. {ECO:0000269|PubMed:33824500}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
mass_dalton
23230
uniprot
proteins
pubmed
11230166
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
33824500
uniprot
proteins
sequence_length
208
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}. Cell projection, dendrite {ECO:0000269|PubMed:33824500}.
uniprot
proteins
transmembrane_region
TRANSMEM 56..76; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 165..185; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 187..207; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins