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Gene Gene information from NCBI Gene database.
Entrez ID 139886
Gene name Spindlin family member 4
Gene symbol SPIN4
Synonyms (NCBI Gene)
LJBSTDRD28
Chromosome X
Chromosome location Xq11.1
miRNA miRNA information provided by mirtarbase database.
385 Show/Hide all (385)
miRTarBase ID miRNA Experiments Reference
MIRT019605 hsa-miR-340-5p Sequencing 20371350
MIRT020392 hsa-miR-29c-3p Sequencing 20371350
MIRT026613 hsa-miR-192-5p Microarray 19074876
MIRT027915 hsa-miR-96-5p Sequencing 20371350
MIRT030544 hsa-miR-24-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15 Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 36927955
GO:0005515 Function Protein binding IPI 29061846
GO:0005634 Component Nucleus IDA 36927955
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301113 27040 ENSG00000186767
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q56A73
Protein name Spindlin-4
Protein function Binds to acetylated and methylated histones, including H3K4me3 and H4K20me3, probably acting as a histone reader that recognizes chromatin marks and mediates downstream cellular effects (PubMed:29061846, PubMed:36927955). Promotes canonical WNT
PDB 4UY4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02513 Spin-Ssty 41 → 90 Spin/Ssty Family Repeat
PF02513 Spin-Ssty 119 → 168 Spin/Ssty Family Repeat
PF02513 Spin-Ssty 201 → 246 Spin/Ssty Family Repeat
Sequence
MSPPTVPPMGVDGVSAYLMKKRHTHRKQRRKPTFLTRRNIVGCRIQHGWKEGNEPVEQWK
GTVLEQVSVKPTLYIIKYDGKDSVYGLELH
RDKRVLALEILPERVPTPRIDSRLADSLIG
KAVEHVFEGEHGTKDEWKGMVLARAPVMDTWFYITYEKDPVLYMYTLL
DDYKDGDLRIIP
DSNYYFPTAEQEPGEVVDSLVGKQVEHAKDDGSKRTGIFIHQVVAKPSVYFIKFDDDIHI
YVYGLV
KTP
Sequence length 249
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Lui-Jee-Baron syndrome Pathogenic rs2519642745 RCV003448950
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Wilms Tumor Wilms tumor Pubtator 31701684 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only