Format

Send to:

Choose Destination

CASS4 Cas scaffold protein family member 4 [ Homo sapiens (human) ]

Gene ID: 57091, updated on 23-Nov-2021

Summary

Official Symbol
CASS4provided by HGNC
Official Full Name
Cas scaffold protein family member 4provided by HGNC
Primary source
HGNC:HGNC:15878
See related
Ensembl:ENSG00000087589 MIM:618888
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CAS4; HEFL; HEPL; C20orf32
Expression
Broad expression in lung (RPKM 5.8), appendix (RPKM 4.9) and 15 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CASS4 in Genome Data Viewer
Location:
20q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (56411550..56460382)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (54987092..55035438)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene aurora kinase A Neighboring gene cleavage stimulation factor subunit 1 Neighboring gene ribosomal protein L39 pseudogene Neighboring gene replication termination factor 2 Neighboring gene uncharacterized LOC105372681 Neighboring gene glucosaminyl (N-acetyl) transferase family member 7 Neighboring gene family with sequence similarity 209 member A Neighboring gene family with sequence similarity 209 member B

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
GeneReviews: Not available
Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in focal adhesion IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
cas scaffolding protein family member 4
Names
HEF-like protein
HEF1-EFS-p130Cas-like protein

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001164114.2NP_001157586.1  cas scaffolding protein family member 4 isoform b

    See identical proteins and their annotated locations for NP_001157586.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction at the 3' end of an exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK027760, AK295613, AL121914, DA584687
    UniProtKB/Swiss-Prot
    Q9NQ75
    UniProtKB/TrEMBL
    B4DII4
    Related
    ENSP00000505834.1, ENST00000679529.1
    Conserved Domains (3) summary
    cd11551
    Location:381539
    Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
    cd12000
    Location:1470
    SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
    pfam12026
    Location:541731
    DUF3513; Domain of unknown function (DUF3513)
  2. NM_001164115.2NP_001157587.1  cas scaffolding protein family member 4 isoform c

    See identical proteins and their annotated locations for NP_001157587.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (c) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK027760, AK295613, AL121914, DA584687
    Consensus CDS
    CCDS54475.1
    UniProtKB/Swiss-Prot
    Q9NQ75
    UniProtKB/TrEMBL
    B4DII4
    Related
    ENSP00000410027.1, ENST00000434344.2
    Conserved Domains (2) summary
    cd12000
    Location:1470
    SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
    cl13463
    Location:228349
    FAT-like_CAS_C; C-terminal FAT-like Four helix bundle domain, also called DUF3513, of CAS (Crk-Associated Substrate) scaffolding proteins; a protein interaction module
  3. NM_001164116.2NP_001157588.1  cas scaffolding protein family member 4 isoform a

    See identical proteins and their annotated locations for NP_001157588.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AJ276678, AK027760, AK295613, AK314653, AL121914
    Consensus CDS
    CCDS33492.1
    UniProtKB/Swiss-Prot
    Q9NQ75
    UniProtKB/TrEMBL
    B4DII4
    Related
    ENSP00000353462.3, ENST00000360314.7
    Conserved Domains (3) summary
    cd11551
    Location:435593
    Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
    cd12000
    Location:1470
    SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
    pfam12026
    Location:595785
    DUF3513; Domain of unknown function (DUF3513)
  4. NM_020356.4NP_065089.2  cas scaffolding protein family member 4 isoform a

    See identical proteins and their annotated locations for NP_065089.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode isoform a.
    Source sequence(s)
    AK027760, AK295613, AK314653, AL121914, DA584687
    Consensus CDS
    CCDS33492.1
    UniProtKB/Swiss-Prot
    Q9NQ75
    UniProtKB/TrEMBL
    B4DII4
    Related
    ENSP00000506506.1, ENST00000679887.1
    Conserved Domains (3) summary
    cd11551
    Location:435593
    Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
    cd12000
    Location:1470
    SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
    pfam12026
    Location:595785
    DUF3513; Domain of unknown function (DUF3513)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    56411550..56460382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723831.3XP_006723894.1  cas scaffolding protein family member 4 isoform X1

    See identical proteins and their annotated locations for XP_006723894.1

    UniProtKB/TrEMBL
    B4DII4
    Conserved Domains (3) summary
    cd11551
    Location:381539
    Serine_rich_CASS4; Serine rich Four helix bundle domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4; a protein interaction module
    cd12000
    Location:1470
    SH3_CASS4; Src homology 3 domain of CAS (Crk-Associated Substrate) scaffolding protein family member 4
    pfam12026
    Location:541731
    DUF3513; Domain of unknown function (DUF3513)
Support Center