ERMARD
entrez
55780
canonical
uniprot
Q5T6L9
canonical
ensembl
ENSG00000130023
resolver
ensembl
ENSG00000276187
resolver
ensp
ENSP00000355734
resolver
ensp
ENSP00000355735
resolver
ensp
ENSP00000375945
resolver
ensp
ENSP00000397661
resolver
ensp
ENSP00000468240
resolver
ensp
ENSP00000486399
resolver
ensp
ENSP00000524271
resolver
ensp
ENSP00000660024
resolver
ensp
ENSP00000660025
resolver
ensp
ENSP00000685380
resolver
enst
ENST00000588451
resolver
enst
ENST00000630950
resolver
genesymbol
ERMARD
resolver
genesymbol_syn
C6orf70
resolver
hgnc
HGNC:21056
resolver
uniprot
B4DFH0
resolver
uniprot
F8WAF1
resolver
uniprot
K7ERF7
resolver
uniprot
Q3ZCS8
resolver
uniprot
Q5T6L8
resolver
uniprot
Q9NUT5
resolver
uniprot
Q9NVU2
resolver
uniprot_entry
EMARD_HUMAN
resolver
uniprot_entry
K7ERF7_HUMAN
resolver
uniprot_sec
B4DFH0
resolver
uniprot_sec
F8WAF1
resolver
uniprot_sec
Q3ZCS8
resolver
uniprot_sec
Q5T6L8
resolver
uniprot_sec
Q9NUT5
resolver
uniprot_sec
Q9NVU2
resolver
amino_acid_sequence
MEVLIGDPITTCLSPSVYDIICNLGFQLRENCDINSIVTQNGEVCWKTITDCVSYTESEQGLDYWGSVRLLGPVCEAVHSHFLSLTKGQFEIRYAPWFQWTSFPELFPEIFDALESLQSPAISLSLMKLTSCLERALGDVFLLIGKECPFLLRDLLSSEELAQVFSQSVMNVLKVFVGSPCGLNLRNVLWHGFASPEEIPPKYCSMMILLTAGLGQLLKSYLQNTKLTLAHRSFISLTNLEDLIVFPDVTYEVLSVLEEVMMKSAFILKIMLPYWEVALVKFKSHRFADCAILLLTQLETGLRNVFATLNRCPKRLLTAESTALYTTFDQILAKHLNDGKINQLPLFLGEPAMEFLWDFLNHQEGPRIRDHLSHGEINLHEFSKETTNQLLAFSLVLLLRFVDDCLLSVFKEKSAVELLISLAEGYSSRCHPVFQLKKQVLSCEESIRVWALLPFPEELTRQAVRLEDNSETNACHSLITKMTDELYHHMPENRCVLKDLDRLPTETWPQLLRELCSTPVPTLFCPRIVLEVLVVLRSISEQCRRVSSQVTVASELRHRQWVERTLRSRQRQNYLRMWSSIRLLSPVLSLILLLIALELVNIHAVCGKNAHEYQQYLKFVKSILQYTENLVAYTSYEKNKWNETINLTHTALLKMWTFSEKKQMLIHLAKKSTSKVLL
uniprot
proteins
disease_involvement
DISEASE: Periventricular nodular heterotopia 6 (PVNH6) [MIM:615544]: A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. {ECO:0000269|PubMed:24056535}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: May play a role in neuronal migration during embryonic development. {ECO:0000269|PubMed:24056535}.
uniprot
proteins
mass_dalton
77788
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
24056535
uniprot
proteins
sequence_length
678
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:24056535}; Multi-pass membrane protein {ECO:0000269|PubMed:24056535}.
uniprot
proteins
transmembrane_region
TRANSMEM 390..410; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 587..607; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins