Gene Gene information from NCBI Gene database.
Entrez ID 63898
Gene name SH2 domain containing 4A
Gene symbol SH2D4A
Synonyms (NCBI Gene)
PPP1R38SH2A
Chromosome 8
Chromosome location 8p21.3
miRNA miRNA information provided by mirtarbase database.
144
miRTarBase ID miRNA Experiments Reference
MIRT002747 hsa-miR-1-3p Microarray 15685193
MIRT649407 hsa-miR-4461 HITS-CLIP 23824327
MIRT649406 hsa-miR-6832-3p HITS-CLIP 23824327
MIRT649404 hsa-miR-4469 HITS-CLIP 23824327
MIRT649405 hsa-miR-7113-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 19060904, 19389623, 20936779, 25416956, 26496610, 27107012, 27173435, 27880917, 28330616, 28514442, 29892012, 31515488, 32296183, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0019902 Function Phosphatase binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614968 26102 ENSG00000104611
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H788
Protein name SH2 domain-containing protein 4A (Protein SH(2)A) (Protein phosphatase 1 regulatory subunit 38)
Protein function Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function. {ECO:0000269|PubM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 347 423 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Aberrantly expressed in some cancers. {ECO:0000269|PubMed:12476414}.
Sequence
MLKQILSEMYIDPDLLAELSEEQKQILFFKMREEQIRRWKEREAAMERKESLPVKPRPKK
ENGKSVHWKLGADKEVWVWVMGEHHLDKPYDVLCNEIIAERARLKAEQEAEEPRKTHSEE
FTNSLKTKSQYHDLQAPDNQQTKDIWKKVAEKEELEQGSRPAPTLEEEKIRSLSSSSRNI
QQMLADSINRMKAYAFHQKKESMKKKQDEEINQIEEERTKQICKSWKEDSEWQASLRKSK
AADEKRRSLAKQAREDYKRLSLGAQKGRGGERLQSPLRVPQKPERPPLPPKPQFLNSGAY
PQKPLRNQGVVRTLSSSAQEDIIRWFKEEQLPLRAGYQKTSDTIAPWFHGILTLKKANEL
LLSTGMPGSFLIRVSERIKGYALSYLSEDGCKHFLIDASADAYSFLGVDQLQHATLADLV
EYH
KEEPITSLGKELLLYPCGQQDQLPDYLELFE
Sequence length 454
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALUNION FRACTURE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenocarcinoma Associate 34893760
★☆☆☆☆
Found in Text Mining only
Adenoma Associate 34893760
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 34893760
★☆☆☆☆
Found in Text Mining only
Chromosomal Instability Inhibit 34893760
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 34893760
★☆☆☆☆
Found in Text Mining only
Esophageal Squamous Cell Carcinoma Inhibit 38043670
★☆☆☆☆
Found in Text Mining only
Glioma Associate 37698534
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 34893760
★☆☆☆☆
Found in Text Mining only
Neoplasms Inhibit 38043670
★☆☆☆☆
Found in Text Mining only