SCYL2
SCY1-like protein 2
Also known as: CVAK104, KIAA1360, SCYL2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q6P3W7
- Gene
- SCYL2
- Ensembl
- ENSG00000136021
- Chromosome
- 12
- Canonical length
- 929 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
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 clathrin, showing involvement in clathrin-dependent pathways between the trans-Golgi network and the endosomal system. In addition, this protein has a role in the Wnt signaling pathway by targeting frizzled 5 (Fzd5) for lysosomal degradation. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2015]
Canonical amino-acid sequenceUniProt
929 residues, UniProt reviewed canonical sequence.
>Q6P3W7|SCYL2
1 MESMLNKLKS TVTKVTADVT SAVMGNPVTR EFDVGRHIAS GGNGLAWKIF NGTKKSTKQE
61 VAVFVFDKKL IDKYQKFEKD QIIDSLKRGV QQLTRLRHPR LLTVQHPLEE SRDCLAFCTE
121 PVFASLANVL GNWENLPSPI SPDIKDYKLY DVETKYGLLQ VSEGLSFLHS SVKMVHGNIT
181 PENIILNKSG AWKIMGFDFC VSSTNPSEQE PKFPCKEWDP NLPSLCLPNP EYLAPEYILS
241 VSCETASDMY SLGTVMYAVF NKGKPIFEVN KQDIYKSFSR QLDQLSRLGS SSLTNIPEEV
301 REHVKLLLNV TPTVRPDADQ MTKIPFFDDV GAVTLQYFDT LFQRDNLQKS QFFKGLPKVL
361 PKLPKRVIVQ RILPCLTSEF VNPDMVPFVL PNVLLIAEEC TKEEYVKLIL PELGPVFKQQ
421 EPIQILLIFL QKMDLLLTKT PPDEIKNSVL PMVYRALEAP SIQIQELCLN IIPTFANLID
481 YPSMKNALIP RIKNACLQTS SLAVRVNSLV CLGKILEYLD KWFVLDDILP FLQQIPSKEP
541 AVLMGILGIY KCTFTHKKLG ITKEQLAGKV LPHLIPLSIE NNLNLNQFNS FISVIKEMLN
601 RLESEHKTKL EQLHIMQEQQ KSLDIGNQMN VSEEMKVTNI GNQQIDKVFN NIGADLLTGS
661 ESENKEDGLQ NKHKRASLTL EEKQKLAKEQ EQAQKLKSQQ PLKPQVHTPV ATVKQTKDLT
721 DTLMDNMSSL TSLSVSTPKS SASSTFTSVP SMGIGMMFST PTDNTKRNLT NGLNANMGFQ
781 TSGFNMPVNT NQNFYSSPST VGVTKMTLGT PPTLPNFNAL SVPPAGAKQT QQRPTDMSAL
841 NNLFGPQKPK VSMNQLSQQK PNQWLNQFVP PQGSPTMGSS VMGTQMNVIG QSAFGMQGNP
901 FFNPQNFAQP PTTMTNSSSA SNDLKDLFGLocalizationUniProt · AlphaFold · HPA
Whether an antibody against SCYL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 27 nTPM
Expression across tissuesHPA
Tissue
- liver: 27 nTPM
- rectum: 25 nTPM
- colon: 22 nTPM
- esophagus: 21 nTPM
- bone marrow: 20 nTPM
- urinary bladder: 20 nTPM
Single-cell type
- neutrophils: 254 nCPM
- neutrophil progenitors: 174 nCPM
- granulosa cells: 171 nCPM
- esophageal apical cells: 169 nCPM
- lactotrophs: 152 nCPM
- pituicytes/fscs: 145 nCPM
Immune cell
- basophil: 12 nTPM
- eosinophil: 10 nTPM
- NK-cell: 8.6 nTPM
- neutrophil: 6.8 nTPM
- myeloid DC: 6.7 nTPM
- intermediate monocyte: 6.5 nTPM
Brain region
- cerebellum: 28 nTPM
- hypothalamus: 26 nTPM
- cerebral cortex: 25 nTPM
- choroid plexus: 24 nTPM
- white matter: 23 nTPM
- basal ganglia: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about SCYL2.
Disease | AllUniProt
Conditions SCYL2 is implicated in, by any mechanism.
- Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum (AMC4) MIM:618766
Disease | GeneticClinVar
9 pathogenic / likely-pathogenic of 159 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum
- Inborn genetic diseases
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.42
- gnomAD pLI
- 0.08
- gnomAD missense Z
- 1.25
- DepMap mean gene effect
- 0.03
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- brain development
- clathrin-dependent endocytosis
- endosome to lysosome transport
- negative regulation of canonical Wnt signaling pathway
- pyramidal neuron development
- receptor internalization
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of SCYL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads SCYL2 as an antibody target. Whether an autoantibody or antibody against SCYL2 could matter depends on whether native SCYL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
SCYL2 is annotated at the cell surface, where native SCYL2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label SCYL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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