SPSB2 (splA/ryanodine receptor domain and SOCS box containing 2)

Gene

• Entrez ID: 84727
• Gene name: SplA/ryanodine receptor domain and SOCS box containing 2
• Gene symbol: SPSB2
• Synonyms (NCBI Gene): GRCC9, SSB2
• Chromosome: 12
• Chromosome location: 12p13.31
• Summary: This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1386580	hsa-miR-1207-3p	CLIP-seq
MIRT1386581	hsa-miR-1226	CLIP-seq
MIRT1386582	hsa-miR-214	CLIP-seq
MIRT1386583	hsa-miR-3619-5p	CLIP-seq
MIRT1386584	hsa-miR-3663-5p	CLIP-seq
MIRT1386585	hsa-miR-4291	CLIP-seq
MIRT1386586	hsa-miR-4733-3p	CLIP-seq
MIRT1386587	hsa-miR-601	CLIP-seq
MIRT1386588	hsa-miR-646	CLIP-seq
MIRT1386589	hsa-miR-761	CLIP-seq
MIRT1386590	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15601820, 19159283, 20561531, 21199876, 23455924, 25814554, 32296183, 32814053, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	21199876
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	21199876
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0016567	Process	Protein ubiquitination	IDA	21199876
GO:0016567	Process	Protein ubiquitination	IEA
GO:0019005	Component	SCF ubiquitin ligase complex	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IEA
GO:1990756	Function	Ubiquitin-like ligase-substrate adaptor activity	IPI	21199876

Other IDs

• MIM: 611658
• HGNC: 29522
• e!Ensembl: ENSG00000111671

Protein

• UniProt ID: Q99619
• Protein name: SPRY domain-containing SOCS box protein 2 (SSB-2) (Gene-rich cluster protein C9)
• Protein function: Substrate recognition component of a SCF-like ECS (Elongin BC-CUL2/5-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins (PubMed:15601820, PubMed:21199
• PDB: 3EMW, 5XN3, 6DN5, 6DN6, 6JKJ, 6JWM, 6JWN, 6KEY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00622	SPRY	88 → 218	SPRY domain	Family
  PF07525	SOCS_box	224 → 262	SOCS box	Domain

• Sequence:

  MGQTALAGGSSSTPTPQALYPDLSCPEGLEELLSAPPPDLGAQRRHGWNPKDCSENIEVK
  EGGLYFERRPVAQSTDGARGKRGYSRGLHAWEISWPLEQRGTHAVVGVATALAPLQTDHY
  AALLGSNSESWGWDIGRGKLYHQSKGPGAPQYPAGTQGEQLEVPERLLVVLDMEEGTLGY
  AIGGTYLGPAFRGLKGRTLYPAVSAVWGQCQVRIRYLGERRAEPHSLLHLSRLCVRHNLG
  DTRLGQVSALPLPPAMKRYLLYQ

• Sequence length: 263

Pathways

Reactome:

Neddylation
Antigen processing: Ubiquitination & Proteasome degradation

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	25612291	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	31257464		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	40149497	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40149497	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26965516	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	31344133	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31257464		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Regular astigmatism - corneal	Corneal astigmatism	GWASCAT_DG	30306274		★☆☆☆☆ Found in Text Mining only