SCYL2
entrez
55681
canonical
uniprot
Q6P3W7
canonical
ensembl
ENSG00000136021
resolver
ensp
ENSP00000354061
resolver
ensp
ENSP00000489123
resolver
ensp
ENSP00000543052
resolver
ensp
ENSP00000543056
resolver
ensp
ENSP00000543057
resolver
enst
ENST00000360820
resolver
enst
ENST00000635101
resolver
enst
ENST00000872993
resolver
enst
ENST00000872997
resolver
enst
ENST00000872998
resolver
genesymbol
SCYL2
resolver
genesymbol_syn
CVAK104
resolver
genesymbol_syn
KIAA1360
resolver
hgnc
HGNC:19286
resolver
uniprot
A0A0U1RQQ9
resolver
uniprot
A8KAB5
resolver
uniprot
Q96EF4
resolver
uniprot
Q96ST4
resolver
uniprot
Q9H7V5
resolver
uniprot
Q9NVH3
resolver
uniprot
Q9P2I7
resolver
uniprot_entry
A0A0U1RQQ9_HUMAN
resolver
uniprot_entry
SCYL2_HUMAN
resolver
uniprot_sec
A8KAB5
resolver
uniprot_sec
Q96EF4
resolver
uniprot_sec
Q96ST4
resolver
uniprot_sec
Q9H7V5
resolver
uniprot_sec
Q9NVH3
resolver
uniprot_sec
Q9P2I7
resolver
amino_acid_sequence
MESMLNKLKSTVTKVTADVTSAVMGNPVTREFDVGRHIASGGNGLAWKIFNGTKKSTKQEVAVFVFDKKLIDKYQKFEKDQIIDSLKRGVQQLTRLRHPRLLTVQHPLEESRDCLAFCTEPVFASLANVLGNWENLPSPISPDIKDYKLYDVETKYGLLQVSEGLSFLHSSVKMVHGNITPENIILNKSGAWKIMGFDFCVSSTNPSEQEPKFPCKEWDPNLPSLCLPNPEYLAPEYILSVSCETASDMYSLGTVMYAVFNKGKPIFEVNKQDIYKSFSRQLDQLSRLGSSSLTNIPEEVREHVKLLLNVTPTVRPDADQMTKIPFFDDVGAVTLQYFDTLFQRDNLQKSQFFKGLPKVLPKLPKRVIVQRILPCLTSEFVNPDMVPFVLPNVLLIAEECTKEEYVKLILPELGPVFKQQEPIQILLIFLQKMDLLLTKTPPDEIKNSVLPMVYRALEAPSIQIQELCLNIIPTFANLIDYPSMKNALIPRIKNACLQTSSLAVRVNSLVCLGKILEYLDKWFVLDDILPFLQQIPSKEPAVLMGILGIYKCTFTHKKLGITKEQLAGKVLPHLIPLSIENNLNLNQFNSFISVIKEMLNRLESEHKTKLEQLHIMQEQQKSLDIGNQMNVSEEMKVTNIGNQQIDKVFNNIGADLLTGSESENKEDGLQNKHKRASLTLEEKQKLAKEQEQAQKLKSQQPLKPQVHTPVATVKQTKDLTDTLMDNMSSLTSLSVSTPKSSASSTFTSVPSMGIGMMFSTPTDNTKRNLTNGLNANMGFQTSGFNMPVNTNQNFYSSPSTVGVTKMTLGTPPTLPNFNALSVPPAGAKQTQQRPTDMSALNNLFGPQKPKVSMNQLSQQKPNQWLNQFVPPQGSPTMGSSVMGTQMNVIGQSAFGMQGNPFFNPQNFAQPPTTMTNSSSASNDLKDLFG
uniprot
proteins
disease_involvement
DISEASE: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum (AMC4) [MIM:618766]: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMC4 is an autosomal recessive, severe form with onset in utero. Patients manifest little or no fetal movements, significant contractures affecting the upper and lower limbs, dysmorphic facial features, optic atrophy, limb fractures, profound global developmental delay, seizures, and peripheral neuropathy. Many patients die in early childhood. {ECO:0000269|PubMed:31960134}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the AP2-containing clathrin coat that may regulate clathrin-dependent trafficking at plasma membrane, TGN and endosomal system (Probable). A possible serine/threonine-protein kinase toward the beta2-subunit of the plasma membrane adapter complex AP2 and other proteins in presence of poly-L-lysine has not been confirmed (PubMed:15809293, PubMed:16914521). By regulating the expression of excitatory receptors at synapses, plays an essential role in neuronal function and signaling and in brain development (By similarity). {ECO:0000250|UniProtKB:Q8CFE4, ECO:0000269|PubMed:15809293, ECO:0000269|PubMed:16914521, ECO:0000305|PubMed:15809293, ECO:0000305|PubMed:16914521}.
uniprot
proteins
mass_dalton
103709
uniprot
proteins
post_translational_modification
PTM: Could autophosphorylate in presence of poly-L-lysine. {ECO:0000269|PubMed:15809293}.
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
pubmed
10718198
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15809293
uniprot
proteins
pubmed
16903783
uniprot
proteins
pubmed
16914521
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
31960134
uniprot
proteins
sequence_length
929
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasmic vesicle, clathrin-coated vesicle {ECO:0000269|PubMed:15809293, ECO:0000269|PubMed:16914521}. Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:16914521}. Endosome membrane {ECO:0000269|PubMed:16914521}. Note=Colocalizes to the trans-Golgi network (TGN) and to endosomal membranes with clathrin, transferrin and plasma membrane adapter AP1 and AP3 complexes. {ECO:0000269|PubMed:16914521}.
uniprot
proteins