Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57091
Gene name Gene Name - the full gene name approved by the HGNC.
Cas scaffold protein family member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CASS4
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf32, CAS4, HEFL, HEPL
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20q13.31
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 23001926
GO:0005737 Component Cytoplasm IMP 27677288
GO:0005856 Component Cytoskeleton IEA
GO:0005886 Component Plasma membrane IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
618888 15878 ENSG00000087589
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
30320580, 30617256, 24162737
Unknown
Disease term Disease name Evidence References Source
Dementia Dementia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33280515
Alzheimer Disease Associate 25114068, 28199971, 33213512, 35436980, 38044212
Carcinoma Non Small Cell Lung Associate 23001926, 27677288
Cognition Disorders Associate 28199971
Inflammation Associate 35528167
Leukemia Myeloid Acute Associate 35528167
Lung Neoplasms Associate 23001926, 27677288
Lymphatic Metastasis Stimulate 23001926
Lymphatic Metastasis Associate 27677288
Neoplasm Metastasis Associate 23001926