Gene Gene information from NCBI Gene database.
Entrez ID 57091
Gene name Cas scaffold protein family member 4
Gene symbol CASS4
Synonyms (NCBI Gene)
C20orf32CAS4HEFLHEPL
Chromosome 20
Chromosome location 20q13.31
miRNA miRNA information provided by mirtarbase database.
332
miRTarBase ID miRNA Experiments Reference
MIRT619050 hsa-miR-508-5p HITS-CLIP 23824327
MIRT619049 hsa-miR-1273g-3p HITS-CLIP 23824327
MIRT619048 hsa-miR-6849-3p HITS-CLIP 23824327
MIRT619047 hsa-miR-1292-3p HITS-CLIP 23824327
MIRT619046 hsa-miR-766-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28514442, 31413325, 32296183
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 23001926
GO:0005737 Component Cytoplasm IEA
GO:0005737 Component Cytoplasm IMP 27677288
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618888 15878 ENSG00000087589
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQ75
Protein name Cas scaffolding protein family member 4 (HEF-like protein) (HEF1-EFS-p130Cas-like protein) (HEPL)
Protein function Docking protein that plays a role in tyrosine kinase-based signaling related to cell adhesion and cell spreading. Regulates PTK2/FAK1 activity, focal adhesion integrity, and cell spreading.
PDB 2CRE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14604 SH3_9 18 69 Variant SH3 domain Domain
PF08824 Serine_rich 435 591 Serine rich protein interaction domain Domain
PF12026 CAS_C 593 785 Crk-Associated Substrate C-terminal domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed abundantly in lung and spleen. Also highly expressed in ovarian and leukemia cell lines. {ECO:0000269|PubMed:18256281}.
Sequence
MKGTGIMDCAPKALLARALYDNCPDCSDELAFSRGDILTILEQHVPESEGWWKCLLHGRQ
GLAPANRLQ
ILTEVAADRPCPPFLRGLEEAPASSEETYQVPTLPRPPTPGPVYEQMRSWA
EGPQPPTAQVYEFPDPPTSARIICEKTLSFPKQAILTLPRPVRASLPTLPSQVYDVPTQH
RGPVVLKEPEKQQLYDIPASPKKAGLHPPDSQASGQGVPLISVTTLRRGGYSTLPNPQKS
EWIYDTPVSPGKASVRNTPLTSFAEESRPHALPSSSSTFYNPPSGRSRSLTPQLNNNVPM
QKKLSLPEIPSYGFLVPRGTFPLDEDVSYKVPSSFLIPRVEQQNTKPNIYDIPKATSSVS
QAGKELEKAKEVSENSAGHNSSWFSRRTTSPSPEPDRLSGSSSDSRASIVSSCSTTSTDD
SSSSSSEESAKELSLDLDVAKETVMALQHKVVSSVAGLMLFVSRKWRFRDYLEANIDAIH
RSTDHIEESVREFLDFARGVHGTACNLTDSNLQNRIRDQMQTISNSYRILLETKESLDNR
NWPLEVLVTDSVQNSPDDLERFVMVARMLPEDIKRFASIVIANGRLLFKRN
CEKEETVQL
TPNAEFKCEKYIQPPQRETESHQKSTPSTKQREDEHSSELLKKNRANICGQNPGPLIPQP
SSQQTPERKPRLSEHCRLYFGALFKAISAFHGSLSSSQPAEIITQSKLVIMVGQKLVDTL
CMETQERDVRNEILRGSSHLCSLLKDVALATKNAVLTYPSPAALGHLQAEAEKLEQHTRQ
FRGTL
G
Sequence length 786
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Confusional Senile Dementia Senile Dementia CTD_human_DG 30320580
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25114068, 28199971, 33213512, 35436980, 38044212 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Early Onset Alzheimer disease CTD_human_DG 30320580
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease CTD_human_DG 30320580
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 24162737, 30617256
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASDB_DG 24162737
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease CTD_human_DG 30320580
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease, Focal Onset Alzheimer disease CTD_human_DG 30320580
★☆☆☆☆
Found in Text Mining only
Autonomic nervous system disorders Autonomic Central Nervous System Diseases BEFREE 30796135
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 27677288
★☆☆☆☆
Found in Text Mining only