CASKIN2
Caskin-2
Also known as: ANKS5B, CSKI2_HUMAN, FLJ21609, KIAA1139
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8WXE0
- Gene
- CASKIN2
- Ensembl
- ENSG00000177303
- Chromosome
- 17
- Canonical length
- 1202 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Plasma membrane
OverviewNCBI Gene
This gene encodes a large protein that contains six ankyrin repeats, as well as a Src homology 3 (SH3) domain and two sterile alpha motif (SAM) domains, which may be involved in protein-protein interactions. The C-terminal portion of this protein is proline-rich and contains a conserved region. A related protein interacts with calcium/calmodulin-dependent serine protein kinase (CASK). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
Canonical amino-acid sequenceUniProt
1202 residues, UniProt reviewed canonical sequence.
>Q8WXE0|CASKIN2
1 MGREQDLILA VKNGDVTGVQ KLVAKVKATK TKLLGSTKRL NVNYQDADGF SALHHAALGG
61 SLELIALLLE AQATVDIKDS NGMRPLHYAA WQGRLEPVRL LLRASAAVNA ASLDGQIPLH
121 LAAQYGHYEV SEMLLQHQSN PCLVNKAKKT PLDLACEFGR LKVAQLLLNS HLCVALLEGE
181 AKDPCDPNYT TPLHLAAKNG HREVIRQLLR AGIEINRQTK TGTALHEAAL YGKTEVVRLL
241 LEGGVDVNIR NTYNQTALDI VNQFTTSQAS REIKQLLREA SGILKVRALK DFWNLHDPTA
301 LNVRAGDVIT VLEQHPDGRW KGHIHESQRG TDRIGYFPPG IVEVVSKRVG IPAARLPSAP
361 TPLRPGFSRT PQPPAEEPPH PLTYSQLPRV GLSPDSPAGD RNSVGSEGSV GSIRSAGSGQ
421 SSEGTNGHGP GLLIENAQPL PSAGEDQVLP GLHPPSLADN LSHRPLANCR SGEQIFTQDV
481 RPEQLLEGKD AQAIHNWLSE FQLEGYTAHF LQAGYDVPTI SRMTPEDLTA IGVTKPGHRK
541 KIASEIAQLS IAEWLPSYIP TDLLEWLCAL GLPQYHKQLV SSGYDSMGLV ADLTWEELQE
601 IGVNKLGHQK KLMLGVKRLA ELRRGLLQGE ALSEGGRRLA KGPELMAIEG LENGEGPATA
661 GPRLLTFQGS ELSPELQAAM AGGGPEPLPL PPARSPSQES IGARSRGSGH SQEQPAPQPS
721 GGDPSPPQER NLPEGTERPP KLCSSLPGQG PPPYVFMYPQ GSPSSPAPGP PPGAPWAFSY
781 LAGPPATPPD PPRPKRRSHS LSRPGPTEGD AEGEAEGPVG STLGSYATLT RRPGRSALVR
841 TSPSVTPTPA RGTPRSQSFA LRARRKGPPP PPPKRLSSVS GPSPEPPPLD ESPGPKEGAT
901 GPRRRTLSEP AGPSEPPGPP APAGPASDTE EEEPGPEGTP PSRGSSGEGL PFAEEGNLTI
961 KQRPKPAGPP PRETPVPPGL DFNLTESDTV KRRPKCRERE PLQTALLAFG VASATPGPAA
1021 PLPSPTPGES PPASSLPQPE PSSLPAQGVP TPLAPSPAMQ PPVPPCPGPG LESSAASRWN
1081 GETEPPAAPA ALLKVPGAGT APKPVSVACT QLAFSGPKLA PRLGPRPVPP PRPESTGTVG
1141 PGQAQQRLEQ TSSSLAAALR AAEKSIGTKE QEGTPSASTK HILDDISTMF DALADQLDAM
1201 LDLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CASKIN2 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
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.53
- Highest tissue expression
- 40 nTPM
Expression across tissuesHPA
Tissue
- lung: 40 nTPM
- adipose tissue: 32 nTPM
- spleen: 30 nTPM
- breast: 29 nTPM
- heart muscle: 28 nTPM
- kidney: 26 nTPM
Single-cell type
- vascular endothelial cells: 75 nCPM
- lymphatic endothelial cells: 43 nCPM
- oligodendrocyte progenitor cells: 30 nCPM
- müller glia: 26 nCPM
- tuft cells: 23 nCPM
- astrocytes: 21 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 52 nTPM
- white matter: 52 nTPM
- basal ganglia: 52 nTPM
- midbrain: 50 nTPM
- cerebellum: 46 nTPM
- thalamus: 46 nTPM
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)
- 0.23
- gnomAD pLI
- 1
- gnomAD missense Z
- 0.74
- DepMap mean gene effect
- -0.18
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Cellular components
Protein domainsUniProt · Pfam · InterPro
- SH3 domain
- Sterile alpha motif domain
- Ankyrin repeat
- Sterile alpha motif/pointed domain superfamily
- Caskin, C-terminal
- Caskin-1, CASK-interaction domain
- Ankyrin repeat and SAM domain-containing protein 1/Caskin
- Caskin1/2, SAM repeat 1
- Caskin1/2, SAM repeat 2
- SH3-like domain superfamily
- Ankyrin repeat-containing domain superfamily
- SAM domain (Sterile alpha motif)
- Variant SH3 domain
- Ankyrin repeats (3 copies)
- Caskin1 CASK-interaction domain
- C-terminal region of Caskin
- Proline rich region of Caskin proteins
- Caskin2, SH3 domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CASKIN2 as an antibody target. Whether an autoantibody or antibody against CASKIN2 could matter depends on whether native CASKIN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CASKIN2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CASKIN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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