Gene Gene information from NCBI Gene database.
Entrez ID 79685
Gene name SAP30 like
Gene symbol SAP30L
Synonyms (NCBI Gene)
NS4ATP2
Chromosome 5
Chromosome location 5q33.2
miRNA miRNA information provided by mirtarbase database.
197
miRTarBase ID miRNA Experiments Reference
MIRT020717 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT048488 hsa-miR-100-5p CLASH 23622248
MIRT046659 hsa-miR-222-3p CLASH 23622248
MIRT530919 hsa-miR-4714-5p PAR-CLIP 22012620
MIRT530918 hsa-miR-514a-5p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000118 Component Histone deacetylase complex IBA
GO:0000118 Component Histone deacetylase complex IDA 18070604
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 18070604
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 9651585, 22865885
GO:0001650 Component Fibrillar center IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610398 25663 ENSG00000164576
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HAJ7
Protein name Histone deacetylase complex subunit SAP30L (HCV non-structural protein 4A-transactivated protein 2) (Sin3 corepressor complex subunit SAP30L) (Sin3-associated protein p30-like)
Protein function [Isoform 1]: Functions as a transcription repressor, probably via its interaction with histone deacetylase complexes (PubMed:16820529, PubMed:18070604). Involved in the functional recruitment of the class 1 Sin3-histone deacetylase complex (HDAC
PDB 2N1U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13866 zf-SAP30 24 95 SAP30 zinc-finger Domain
PF13867 SAP30_Sin3_bdg 114 166 Sin3 binding region of histone deacetylase complex subunit SAP30 Family
Tissue specificity TISSUE SPECIFICITY: Detected in brain and ovary, and at lower levels in heart, small intestine, lung, kidney, skeletal muscle, stomach and spleen (at protein level) (PubMed:18070604). Ubiquitous; expressed in all tissues tested with highest levels in test
Sequence
Sequence length 183
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Epstein-Barr virus infection   HDACs deacetylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
POLYCYSTIC OVARY SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 28650998
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hypertension Associate 32664164
★☆☆☆☆
Found in Text Mining only
Necrosis Associate 37335630
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 29614511
★☆☆☆☆
Found in Text Mining only
Prostatic Hyperplasia Stimulate 29614511
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Associate 29614511
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 37335630
★☆☆☆☆
Found in Text Mining only
Ventricular Remodeling Stimulate 32664164
★☆☆☆☆
Found in Text Mining only