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CASS4 (Cas scaffold protein family member 4)

Identity

Alias (NCBI)C20orf32
CAS4
HEFL
HEPL
HGNC (Hugo) CASS4
HGNC Alias symbHEFL
HEPL
HGNC Alias nameHEF-like protein
 HEF1-Efs-p130Cas-like
HGNC Previous nameC20orf32
HGNC Previous namechromosome 20 open reading frame 32
 Cas scaffolding protein family member 4
LocusID (NCBI) 57091
Atlas_Id 53239
Location 20q13.31  [Link to chromosome band 20q13]
Location_base_pair Starts at 56412260 and ends at 56460381 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CASS4 (20q13.2) / BOLA2 (16p11.2)CASS4 (20q13.2) / CAPS2 (12q21.1)VAPB (20q13.32) / CASS4 (20q13.2)
VAPB 20q13.32 / CASS4 20q13.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)CASS4   15878
Cards
Entrez_Gene (NCBI)CASS4    Cas scaffold protein family member 4
AliasesC20orf32; CAS4; HEFL; HEPL
GeneCards (Weizmann)CASS4
Ensembl hg19 (Hinxton)ENSG00000087589 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087589 [Gene_View]  ENSG00000087589 [Sequence]  chr20:56412260-56460381 [Contig_View]  CASS4 [Vega]
ICGC DataPortalENSG00000087589
TCGA cBioPortalCASS4
AceView (NCBI)CASS4
Genatlas (Paris)CASS4
SOURCE (Princeton)CASS4
Genetics Home Reference (NIH)CASS4
Genomic and cartography
GoldenPath hg38 (UCSC)CASS4  -     chr20:56412260-56460381 +  20q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASS4  -     20q13.31   [Description]    (hg19-Feb_2009)
GoldenPathCASS4 - 20q13.31 [CytoView hg19]  CASS4 - 20q13.31 [CytoView hg38]
ImmunoBaseENSG00000087589
Genome Data Viewer NCBICASS4 [Mapview hg19]  
OMIM618888   
Gene and transcription
Genbank (Entrez)AJ276678 AK027760 AK295613 AK308057 AK314653
RefSeq transcript (Entrez)NM_001164114 NM_001164115 NM_001164116 NM_020356
Consensus coding sequences : CCDS (NCBI)CASS4
Gene ExpressionCASS4 [ NCBI-GEO ]   CASS4 [ EBI - ARRAY_EXPRESS ]   CASS4 [ SEEK ]   CASS4 [ MEM ]
Gene Expression Viewer (FireBrowse)CASS4 [ Firebrowse - Broad ]
GenevisibleExpression of CASS4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57091
GTEX Portal (Tissue expression)CASS4
Human Protein AtlasENSG00000087589-CASS4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ75   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQ75  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQ75
PhosPhoSitePlusQ9NQ75
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)CAS_C    CAS_fam    CASS4    CASS4_SH3    Serine_rich_dom    Serine_rich_sf    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)CAS_C (PF12026)    Serine_rich (PF08824)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam12026    pfam08824    pfam14604   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)CASS4
PDB (RSDB)2CRE   
PDB Europe2CRE   
PDB (PDBSum)2CRE   
PDB (IMB)2CRE   
Structural Biology KnowledgeBase2CRE   
SCOP (Structural Classification of Proteins)2CRE   
CATH (Classification of proteins structures)2CRE   
SuperfamilyQ9NQ75
AlphaFold pdb e-kbQ9NQ75   
Human Protein Atlas [tissue]ENSG00000087589-CASS4 [tissue]
HPRD09842
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ75
IntAct (EBI)Q9NQ75
BioGRIDCASS4
STRING (EMBL)CASS4
ZODIACCASS4
Ontologies - Pathways
QuickGOQ9NQ75
Ontology : AmiGOcytoplasm  cytoplasm  cytoplasm  cytoskeleton  plasma membrane  focal adhesion  cell adhesion  transmembrane receptor protein tyrosine kinase signaling pathway  cell migration  positive regulation of cell migration  positive regulation of protein kinase B signaling  positive regulation of protein tyrosine kinase activity  actin filament reorganization  positive regulation of substrate adhesion-dependent cell spreading  protein tyrosine kinase binding  
Ontology : EGO-EBIcytoplasm  cytoplasm  cytoplasm  cytoskeleton  plasma membrane  focal adhesion  cell adhesion  transmembrane receptor protein tyrosine kinase signaling pathway  cell migration  positive regulation of cell migration  positive regulation of protein kinase B signaling  positive regulation of protein tyrosine kinase activity  actin filament reorganization  positive regulation of substrate adhesion-dependent cell spreading  protein tyrosine kinase binding  
NDEx NetworkCASS4
Atlas of Cancer Signalling NetworkCASS4
Wikipedia pathwaysCASS4
Orthology - Evolution
OrthoDB57091
GeneTree (enSembl)ENSG00000087589
Phylogenetic Trees/Animal Genes : TreeFamCASS4
Homologs : HomoloGeneCASS4
Homology/Alignments : Family Browser (UCSC)CASS4
Gene fusions - Rearrangements
Fusion : MitelmanCASS4/CAPS2 [20q13.2/12q21.1]  
Fusion : MitelmanVAPB/CASS4 [20q13.32/20q13.2]  
Fusion : QuiverCASS4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASS4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASS4
dbVarCASS4
ClinVarCASS4
MonarchCASS4
1000_GenomesCASS4 
Exome Variant ServerCASS4
GNOMAD BrowserENSG00000087589
Varsome BrowserCASS4
ACMGCASS4 variants
VarityQ9NQ75
Genomic Variants (DGV)CASS4 [DGVbeta]
DECIPHERCASS4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASS4 
Mutations
ICGC Data PortalCASS4 
TCGA Data PortalCASS4 
Broad Tumor PortalCASS4
OASIS PortalCASS4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASS4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCASS4
Mutations and Diseases : HGMDCASS4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCASS4
DgiDB (Drug Gene Interaction Database)CASS4
DoCM (Curated mutations)CASS4
CIViC (Clinical Interpretations of Variants in Cancer)CASS4
Cancer3DCASS4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM618888   
Orphanet
DisGeNETCASS4
MedgenCASS4
Genetic Testing Registry CASS4
NextProtQ9NQ75 [Medical]
GENETestsCASS4
Target ValidationCASS4
Huge Navigator CASS4 [HugePedia]
ClinGenCASS4
Clinical trials, drugs, therapy
MyCancerGenomeCASS4
Protein Interactions : CTDCASS4
Pharm GKB GenePA162381095
PharosQ9NQ75
Clinical trialCASS4
Miscellaneous
canSAR (ICR)CASS4
HarmonizomeCASS4
DataMed IndexCASS4
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCASS4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:02:21 CEST 2021

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