PCDHGC4
entrez
56098
canonical
uniprot
Q9Y5F7
canonical
ensembl
ENSG00000242419
resolver
ensp
ENSP00000306918
resolver
ensp
ENSP00000478541
resolver
ensp
ENSP00000483845
resolver
enst
ENST00000618371
resolver
genesymbol
PCDHGC4
resolver
hgnc
HGNC:8717
resolver
uniprot
A0A087WUC2
resolver
uniprot
Q495T2
resolver
uniprot
Q9Y5C3
resolver
uniprot_entry
A0A087WUC2_HUMAN
resolver
uniprot_entry
PCDGL_HUMAN
resolver
uniprot_sec
Q495T2
resolver
uniprot_sec
Q9Y5C3
resolver
amino_acid_sequence
MLRKVRSWTEIWRWATLLFLFYHLGYVCGQIRYPVPEESQEGTFVGNVAQDFLLDTDSLSARRLQVAGEVNQRHFRVDLDSGALLIKNPIDREALCGLSASCIVPLEFVTEGPLEMYRAEVEIVDVNDHAPRFPRQQLDLEIGEAAPPGQRFPLEKAQDADVGSNSISSYRLSSNEHFALDVKKRSDGSLVPELLLEKPLDREKQSDYRLVLTAVDGGNPPRSGTAELRVSVLDVNDNAPAFQQSSYRISVLESAPAGMVLIQLNASDPDLGPSGNVTFYFSGHTPDRVRNLFSLHPTTGKLTLLGPLDFESENYYEFDVRARDGGSPAMEQHCSLRVDLLDVNDNAPYITVTSELGTLPESAEPGTVVALISVQDPDSGSNGDVSLRIPDHLPFALKSAFRNQFSLVTAGPLDREAKSSYDIMVTASDAGNPPLSTHRTIFLNISDVNDNPPSFFQRSHEVFVPENNRPGDLLCSLAASDPDSGLNALISYSLLEPRNRDVSASSFISLNPQTGAVHATRSFDYEQTQTLQFEVQARDRGNPPLSSTVTVRLFVLDLNDNAPAVLRPRARPGSLCPQALPPSVGAGHLITKVTAVDLDSGYNAWVSYQLLEAPDPSLFAVSRYAGEVRTAVPIPADLPPQKLVIVVKDSGSPPLSTSVTLLVSLEEDTHPVVPDLRESSAPREGESRLTLYLAVSLVAICFVSFGSFVALLSKCLRGAACGVTCFPAGTCACLTRSRRREGLPPSNGILRIQLGSDDPIKFVDVGGHSHGCTPLASAPTRSDSFMMVKSPSAPMAGEPVRPSCPPSDLLYGLEQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGPQFTLQHVPDYRQNVYIPGSNATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) [MIM:619880]: An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals present with progressive microcephaly, hypotonia, delayed walking, poor or absent speech, intellectual disability, and variable skeletal anomalies. Variable features include seizures, non-specific dysmorphic facial features, oculomotor apraxia, and non-specific brain imaging abnormalities. {ECO:0000269|PubMed:34244665}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
uniprot
proteins
mass_dalton
101214
uniprot
proteins
pubmed
10380929
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
34244665
uniprot
proteins
sequence_length
938
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Single-pass type I membrane protein {ECO:0000250}.
uniprot
proteins
transmembrane_region
TRANSMEM 693..713; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins