Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55681
Gene name	SCY1 like pseudokinase 2
Gene symbol	SCYL2
Synonyms (NCBI Gene)	AMC4AMCNACCCVAK104
Chromosome	12
Chromosome location	12q23.1
Summary	The protein encoded by this gene associates with clathrin-coated complexes at the plasma membrane and with endocytic coated vesicles. The encoded protein phosphorylates the beta2 subunit of the plasma membrane adapter complex AP2 and interacts with clathr

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Show/Hide all (143)

miRTarBase ID	miRNA	Experiments	Reference
MIRT049398	hsa-miR-92a-3p	CLASH	23622248
MIRT1330994	hsa-miR-1244	CLIP-seq
MIRT1330995	hsa-miR-1257	CLIP-seq
MIRT1330996	hsa-miR-1304	CLIP-seq
MIRT1330997	hsa-miR-1827	CLIP-seq
MIRT1330998	hsa-miR-196a	CLIP-seq
MIRT1330999	hsa-miR-196b	CLIP-seq
MIRT1331000	hsa-miR-224	CLIP-seq
MIRT1331001	hsa-miR-298	CLIP-seq
MIRT1331002	hsa-miR-3120-3p	CLIP-seq
MIRT1331003	hsa-miR-323-3p	CLIP-seq
MIRT1331004	hsa-miR-3622b-5p	CLIP-seq
MIRT1331005	hsa-miR-3647-3p	CLIP-seq
MIRT1331006	hsa-miR-371b-5p	CLIP-seq
MIRT1331007	hsa-miR-4270	CLIP-seq
MIRT1331008	hsa-miR-4441	CLIP-seq
MIRT1331009	hsa-miR-4520a-3p	CLIP-seq
MIRT1331010	hsa-miR-4720-5p	CLIP-seq
MIRT1331011	hsa-miR-4728-3p	CLIP-seq
MIRT1331012	hsa-miR-4756-3p	CLIP-seq
MIRT1331013	hsa-miR-4760-3p	CLIP-seq
MIRT1331014	hsa-miR-4762-5p	CLIP-seq
MIRT1331015	hsa-miR-4772-3p	CLIP-seq
MIRT1331016	hsa-miR-4778-3p	CLIP-seq
MIRT1331017	hsa-miR-4799-3p	CLIP-seq
MIRT1331018	hsa-miR-494	CLIP-seq
MIRT1331019	hsa-miR-515-3p	CLIP-seq
MIRT1331020	hsa-miR-519e	CLIP-seq
MIRT1331021	hsa-miR-520d-5p	CLIP-seq
MIRT1331022	hsa-miR-524-5p	CLIP-seq
MIRT1331023	hsa-miR-556-3p	CLIP-seq
MIRT1331024	hsa-miR-561	CLIP-seq
MIRT1331025	hsa-miR-591	CLIP-seq
MIRT1331026	hsa-miR-600	CLIP-seq
MIRT1331027	hsa-miR-759	CLIP-seq
MIRT1331028	hsa-miR-922	CLIP-seq
MIRT2097896	hsa-miR-142-5p	CLIP-seq
MIRT1331000	hsa-miR-224	CLIP-seq
MIRT2097897	hsa-miR-340	CLIP-seq
MIRT2097898	hsa-miR-3671	CLIP-seq
MIRT2097899	hsa-miR-410	CLIP-seq
MIRT1331007	hsa-miR-4270	CLIP-seq
MIRT2097900	hsa-miR-4312	CLIP-seq
MIRT1331008	hsa-miR-4441	CLIP-seq
MIRT2097901	hsa-miR-4691-5p	CLIP-seq
MIRT1331019	hsa-miR-515-3p	CLIP-seq
MIRT1331020	hsa-miR-519e	CLIP-seq
MIRT1331023	hsa-miR-556-3p	CLIP-seq
MIRT1331024	hsa-miR-561	CLIP-seq
MIRT1331027	hsa-miR-759	CLIP-seq
MIRT1330994	hsa-miR-1244	CLIP-seq
MIRT1331000	hsa-miR-224	CLIP-seq
MIRT2322397	hsa-miR-3065-3p	CLIP-seq
MIRT2322398	hsa-miR-3591-3p	CLIP-seq
MIRT2322399	hsa-miR-3609	CLIP-seq
MIRT2097898	hsa-miR-3671	CLIP-seq
MIRT2322400	hsa-miR-3691-3p	CLIP-seq
MIRT1331007	hsa-miR-4270	CLIP-seq
MIRT2097900	hsa-miR-4312	CLIP-seq
MIRT1331008	hsa-miR-4441	CLIP-seq
MIRT2322401	hsa-miR-4700-3p	CLIP-seq
MIRT2322402	hsa-miR-4799-5p	CLIP-seq
MIRT1331019	hsa-miR-515-3p	CLIP-seq
MIRT1331020	hsa-miR-519e	CLIP-seq
MIRT2322403	hsa-miR-548ah	CLIP-seq
MIRT2322404	hsa-miR-548t	CLIP-seq
MIRT1331024	hsa-miR-561	CLIP-seq
MIRT1331025	hsa-miR-591	CLIP-seq
MIRT1331027	hsa-miR-759	CLIP-seq
MIRT2322405	hsa-miR-875-5p	CLIP-seq
MIRT2394122	hsa-miR-1178	CLIP-seq
MIRT2394123	hsa-miR-4264	CLIP-seq
MIRT2394124	hsa-miR-593	CLIP-seq
MIRT2394125	hsa-miR-622	CLIP-seq
MIRT2618660	hsa-miR-1208	CLIP-seq
MIRT2618661	hsa-miR-1229	CLIP-seq
MIRT1330995	hsa-miR-1257	CLIP-seq
MIRT1330996	hsa-miR-1304	CLIP-seq
MIRT1330997	hsa-miR-1827	CLIP-seq
MIRT2618662	hsa-miR-205	CLIP-seq
MIRT1331001	hsa-miR-298	CLIP-seq
MIRT1331002	hsa-miR-3120-3p	CLIP-seq
MIRT2618663	hsa-miR-3121-3p	CLIP-seq
MIRT2618664	hsa-miR-3148	CLIP-seq
MIRT1331003	hsa-miR-323-3p	CLIP-seq
MIRT2322399	hsa-miR-3609	CLIP-seq
MIRT2618665	hsa-miR-3646	CLIP-seq
MIRT2618666	hsa-miR-3662	CLIP-seq
MIRT2618667	hsa-miR-3682-5p	CLIP-seq
MIRT2322400	hsa-miR-3691-3p	CLIP-seq
MIRT1331006	hsa-miR-371b-5p	CLIP-seq
MIRT2618668	hsa-miR-4459	CLIP-seq
MIRT2618669	hsa-miR-4698	CLIP-seq
MIRT2322401	hsa-miR-4700-3p	CLIP-seq
MIRT2618670	hsa-miR-4738-3p	CLIP-seq
MIRT2618671	hsa-miR-4753-3p	CLIP-seq
MIRT1331014	hsa-miR-4762-5p	CLIP-seq
MIRT1331016	hsa-miR-4778-3p	CLIP-seq
MIRT2322402	hsa-miR-4799-5p	CLIP-seq
MIRT2618672	hsa-miR-491-3p	CLIP-seq
MIRT1331018	hsa-miR-494	CLIP-seq
MIRT2618673	hsa-miR-500a	CLIP-seq
MIRT1331021	hsa-miR-520d-5p	CLIP-seq
MIRT1331022	hsa-miR-524-5p	CLIP-seq
MIRT2322403	hsa-miR-548ah	CLIP-seq
MIRT2322404	hsa-miR-548t	CLIP-seq
MIRT1331024	hsa-miR-561	CLIP-seq
MIRT1331025	hsa-miR-591	CLIP-seq
MIRT1331026	hsa-miR-600	CLIP-seq
MIRT1331028	hsa-miR-922	CLIP-seq
MIRT2618674	hsa-miR-942	CLIP-seq
MIRT2618660	hsa-miR-1208	CLIP-seq
MIRT2618661	hsa-miR-1229	CLIP-seq
MIRT1330995	hsa-miR-1257	CLIP-seq
MIRT1330996	hsa-miR-1304	CLIP-seq
MIRT1330997	hsa-miR-1827	CLIP-seq
MIRT2618662	hsa-miR-205	CLIP-seq
MIRT1331001	hsa-miR-298	CLIP-seq
MIRT1331002	hsa-miR-3120-3p	CLIP-seq
MIRT2618663	hsa-miR-3121-3p	CLIP-seq
MIRT2618664	hsa-miR-3148	CLIP-seq
MIRT1331003	hsa-miR-323-3p	CLIP-seq
MIRT2322399	hsa-miR-3609	CLIP-seq
MIRT2618667	hsa-miR-3682-5p	CLIP-seq
MIRT2322400	hsa-miR-3691-3p	CLIP-seq
MIRT2690299	hsa-miR-4325	CLIP-seq
MIRT2690300	hsa-miR-4426	CLIP-seq
MIRT2618668	hsa-miR-4459	CLIP-seq
MIRT2690301	hsa-miR-4647	CLIP-seq
MIRT2690302	hsa-miR-4662b	CLIP-seq
MIRT2618669	hsa-miR-4698	CLIP-seq
MIRT2322401	hsa-miR-4700-3p	CLIP-seq
MIRT2618670	hsa-miR-4738-3p	CLIP-seq
MIRT2618671	hsa-miR-4753-3p	CLIP-seq
MIRT2322402	hsa-miR-4799-5p	CLIP-seq
MIRT2618672	hsa-miR-491-3p	CLIP-seq
MIRT2618673	hsa-miR-500a	CLIP-seq
MIRT2690303	hsa-miR-507	CLIP-seq
MIRT2322403	hsa-miR-548ah	CLIP-seq
MIRT2322404	hsa-miR-548t	CLIP-seq
MIRT2690304	hsa-miR-557	CLIP-seq
MIRT1331025	hsa-miR-591	CLIP-seq
MIRT2618674	hsa-miR-942	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004672	Function	Protein kinase activity	IEA
GO:0005102	Function	Signaling receptor binding	IPI	19643732
GO:0005515	Function	Protein binding	IPI	19643732
GO:0005524	Function	ATP binding	IEA
GO:0005768	Component	Endosome	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	ISS
GO:0008333	Process	Endosome to lysosome transport	IDA	19643732
GO:0010008	Component	Endosome membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0021860	Process	Pyramidal neuron development	IEA
GO:0021860	Process	Pyramidal neuron development	ISS
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031623	Process	Receptor internalization	IDA	19643732
GO:0072583	Process	Clathrin-dependent endocytosis	IDA	19643732
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	19643732

MIM	HGNC	e!Ensembl
616365	19286	ENSG00000136021

Q6P3W7

Protein name

SCY1-like protein 2 (Coated vesicle-associated kinase of 104 kDa)

Protein 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 ad

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	32 → 327	Protein kinase domain	Domain

Sequence

MESMLNKLKSTVTKVTADVTSAVMGNPVTREFDVGRHIASGGNGLAWKIFNGTKKSTKQE
VAVFVFDKKLIDKYQKFEKDQIIDSLKRGVQQLTRLRHPRLLTVQHPLEESRDCLAFCTE
PVFASLANVLGNWENLPSPISPDIKDYKLYDVETKYGLLQVSEGLSFLHSSVKMVHGNIT
PENIILNKSGAWKIMGFDFCVSSTNPSEQEPKFPCKEWDPNLPSLCLPNPEYLAPEYILS
VSCETASDMYSLGTVMYAVFNKGKPIFEVNKQDIYKSFSRQLDQLSRLGSSSLTNIPEEV
REHVKLLLNVTPTVRPDADQMTKIPFFDDVGAVTLQYFDTLFQRDNLQKSQFFKGLPKVL
PKLPKRVIVQRILPCLTSEFVNPDMVPFVLPNVLLIAEECTKEEYVKLILPELGPVFKQQ
EPIQILLIFLQKMDLLLTKTPPDEIKNSVLPMVYRALEAPSIQIQELCLNIIPTFANLID
YPSMKNALIPRIKNACLQTSSLAVRVNSLVCLGKILEYLDKWFVLDDILPFLQQIPSKEP
AVLMGILGIYKCTFTHKKLGITKEQLAGKVLPHLIPLSIENNLNLNQFNSFISVIKEMLN
RLESEHKTKLEQLHIMQEQQKSLDIGNQMNVSEEMKVTNIGNQQIDKVFNNIGADLLTGS
ESENKEDGLQNKHKRASLTLEEKQKLAKEQEQAQKLKSQQPLKPQVHTPVATVKQTKDLT
DTLMDNMSSLTSLSVSTPKSSASSTFTSVPSMGIGMMFSTPTDNTKRNLTNGLNANMGFQ
TSGFNMPVNTNQNFYSSPSTVGVTKMTLGTPPTLPNFNALSVPPAGAKQTQQRPTDMSAL
NNLFGPQKPKVSMNQLSQQKPNQWLNQFVPPQGSPTMGSSVMGTQMNVIGQSAFGMQGNP
FFNPQNFAQPPTTMTNSSSASNDLKDLFG

Sequence length

929

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum	Likely pathogenic; Pathogenic	rs2135832560, rs2135832798, rs2500017861, rs2500080530, rs760124743, rs2096362304	RCV001754551 RCV001754552 RCV003154876 RCV003448796 RCV001000099 RCV001000100	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ARTHROGRYPOSIS MULTIPLEX CONGENITA NEUROGENIC TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCYL2-related disorder	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Arthrogryposis	Associate	40243816	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	26420498	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Associate	40243816	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Associate	40243816	★★★★★ ★☆☆☆☆ Found in Text Mining only

SCYL2 (SCY1 like pseudokinase 2)