Gene Gene information from NCBI Gene database.
Entrez ID 54466
Gene name Spindlin family member 2A
Gene symbol SPIN2A
Synonyms (NCBI Gene)
DXF34SPIN2TDRD25dJ323P24.1
Chromosome X
Chromosome location Xp11.21
Summary This gene encodes one of three members of the DXF34 gene family, located in a 100-kb region of chromosome Xp11.21. [provided by RefSeq, Nov 2009]
miRNA miRNA information provided by mirtarbase database.
19
miRTarBase ID miRNA Experiments Reference
MIRT1384250 hsa-miR-1227 CLIP-seq
MIRT1384251 hsa-miR-1283 CLIP-seq
MIRT1384252 hsa-miR-129-5p CLIP-seq
MIRT1384253 hsa-miR-3618 CLIP-seq
MIRT1384254 hsa-miR-3692 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29061846
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300621 20694 ENSG00000147059
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99865
Protein name Spindlin-2A (Protein DXF34) (Spindlin-like protein 2A) (SPIN-2) (SPIN-2A)
Protein function May be involved in the regulation of cell cycle progression (By similarity). Exhibits H3K4me3-binding activity (PubMed:29061846).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02513 Spin-Ssty 50 99 Spin/Ssty Family Repeat
PF02513 Spin-Ssty 129 178 Spin/Ssty Family Repeat
PF02513 Spin-Ssty 210 255 Spin/Ssty Family Repeat
Sequence
MKTPNAQEAEGQQTRAAAGRATGSANMTKKKVSQKKQRGRPSSQPRRNIVGCRISHGWKE
GDEPITQWKGTVLDQVPINPSLYLVKYDGIDCVYGLELH
RDERVLSLKILSDRVASSHIS
DANLANTIIGKAVEHMFEGEHGSKDEWRGMVLAQAPIMKAWFYITYEKDPVLYMYQLLDD
YKEGDLRIMPESSESPPTEREPGGVVDGLIGKHVEYTKEDGSKRIGMVIHQVETKPSVYF
IKFDDDFHIYVYDLV
KKS
Sequence length 258
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations