Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54440
Gene name	SAM and SH3 domain containing 3
Gene symbol	SASH3
Synonyms (NCBI Gene)	753P9CXorf9HACS2IMD102SH3D6CSLY
Chromosome	X
Chromosome location	Xq26.1
Summary	The protein encoded by this gene contains a Src homology-3 (SH3) domain and a sterile alpha motif (SAM), both of which are found in proteins involved in cell signaling. This protein may function as a signaling adapter protein in lymphocytes.[provided by R

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT379572	hsa-miR-595	PAR-CLIP	22012620
MIRT529150	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT529149	hsa-miR-3657	PAR-CLIP	22012620
MIRT529148	hsa-miR-4669	PAR-CLIP	22012620
MIRT529147	hsa-miR-4436b-5p	PAR-CLIP	22012620
MIRT379572	hsa-miR-595	PAR-CLIP	22012620
MIRT529150	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT529149	hsa-miR-3657	PAR-CLIP	22012620
MIRT529148	hsa-miR-4669	PAR-CLIP	22012620
MIRT529147	hsa-miR-4436b-5p	PAR-CLIP	22012620
MIRT1326517	hsa-miR-4437	CLIP-seq
MIRT2096961	hsa-miR-106a	CLIP-seq
MIRT2096962	hsa-miR-106b	CLIP-seq
MIRT2096963	hsa-miR-142-5p	CLIP-seq
MIRT2096964	hsa-miR-17	CLIP-seq
MIRT2096965	hsa-miR-185	CLIP-seq
MIRT2096966	hsa-miR-1910	CLIP-seq
MIRT2096967	hsa-miR-20a	CLIP-seq
MIRT2096968	hsa-miR-20b	CLIP-seq
MIRT2096969	hsa-miR-3125	CLIP-seq
MIRT2096970	hsa-miR-3150b-3p	CLIP-seq
MIRT2096971	hsa-miR-3151	CLIP-seq
MIRT2096972	hsa-miR-3609	CLIP-seq
MIRT2096973	hsa-miR-3612	CLIP-seq
MIRT2096974	hsa-miR-3916	CLIP-seq
MIRT2096975	hsa-miR-4306	CLIP-seq
MIRT2096976	hsa-miR-4443	CLIP-seq
MIRT2096977	hsa-miR-4447	CLIP-seq
MIRT2096978	hsa-miR-4472	CLIP-seq
MIRT2096979	hsa-miR-4644	CLIP-seq
MIRT2096980	hsa-miR-4666-5p	CLIP-seq
MIRT2096981	hsa-miR-4689	CLIP-seq
MIRT2096982	hsa-miR-4710	CLIP-seq
MIRT2096983	hsa-miR-4784	CLIP-seq
MIRT2096984	hsa-miR-4796-3p	CLIP-seq
MIRT2096985	hsa-miR-4802-3p	CLIP-seq
MIRT2096986	hsa-miR-491-5p	CLIP-seq
MIRT2096987	hsa-miR-519d	CLIP-seq
MIRT2096988	hsa-miR-548ah	CLIP-seq
MIRT2096989	hsa-miR-650	CLIP-seq
MIRT2096990	hsa-miR-93	CLIP-seq
MIRT2096970	hsa-miR-3150b-3p	CLIP-seq
MIRT2096971	hsa-miR-3151	CLIP-seq
MIRT2096973	hsa-miR-3612	CLIP-seq
MIRT2096976	hsa-miR-4443	CLIP-seq
MIRT2096977	hsa-miR-4447	CLIP-seq
MIRT2096978	hsa-miR-4472	CLIP-seq
MIRT2096981	hsa-miR-4689	CLIP-seq
MIRT2096982	hsa-miR-4710	CLIP-seq
MIRT2096983	hsa-miR-4784	CLIP-seq
MIRT2096986	hsa-miR-491-5p	CLIP-seq
MIRT2096989	hsa-miR-650	CLIP-seq
MIRT2096970	hsa-miR-3150b-3p	CLIP-seq
MIRT2096971	hsa-miR-3151	CLIP-seq
MIRT2394043	hsa-miR-3184	CLIP-seq
MIRT2096973	hsa-miR-3612	CLIP-seq
MIRT2394044	hsa-miR-423-5p	CLIP-seq
MIRT2096976	hsa-miR-4443	CLIP-seq
MIRT2096977	hsa-miR-4447	CLIP-seq
MIRT2394045	hsa-miR-4459	CLIP-seq
MIRT2096978	hsa-miR-4472	CLIP-seq
MIRT2096981	hsa-miR-4689	CLIP-seq
MIRT2096982	hsa-miR-4710	CLIP-seq
MIRT2394046	hsa-miR-4755-3p	CLIP-seq
MIRT2394047	hsa-miR-4779	CLIP-seq
MIRT2096983	hsa-miR-4784	CLIP-seq
MIRT2096986	hsa-miR-491-5p	CLIP-seq
MIRT2096989	hsa-miR-650	CLIP-seq
MIRT2394048	hsa-miR-665	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence
GO:0001782	Process	B cell homeostasis	IEA
GO:0002639	Process	Positive regulation of immunoglobulin production	IBA
GO:0002639	Process	Positive regulation of immunoglobulin production	IEA
GO:0002726	Process	Positive regulation of T cell cytokine production	IEA
GO:0002821	Process	Positive regulation of adaptive immune response	IBA
GO:0002821	Process	Positive regulation of adaptive immune response	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0030890	Process	Positive regulation of B cell proliferation	IBA
GO:0030890	Process	Positive regulation of B cell proliferation	IEA
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032733	Process	Positive regulation of interleukin-10 production	IEA
GO:0032743	Process	Positive regulation of interleukin-2 production	IEA
GO:0032753	Process	Positive regulation of interleukin-4 production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0042098	Process	T cell proliferation	IEA
GO:0042100	Process	B cell proliferation	IEA
GO:0042102	Process	Positive regulation of T cell proliferation	IEA
GO:0043367	Process	CD4-positive, alpha-beta T cell differentiation	IEA
GO:0043372	Process	Positive regulation of CD4-positive, alpha-beta T cell differentiation	IEA
GO:0046622	Process	Positive regulation of organ growth	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0051251	Process	Positive regulation of lymphocyte activation	IEA
GO:1902531	Process	Regulation of intracellular signal transduction	IBA

MIM	HGNC	e!Ensembl
300441	15975	ENSG00000122122

O75995

Protein name

SAM and SH3 domain-containing protein 3 (SH3 protein expressed in lymphocytes homolog)

Protein function

May function as a signaling adapter protein in lymphocytes.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12485	SLY	21 → 174	Lymphocyte signaling adaptor protein	Family
PF07653	SH3_2	177 → 232	Variant SH3 domain	Domain
PF07647	SAM_2	250 → 314	SAM domain (Sterile alpha motif)	Domain

Sequence

MLRRKPSNASEKEPTQKKKLSLQRSSSFKDFAKSKPSSPVVSEKEFNLDDNIPEDDSGVP
TPEDAGKSGKKLGKKWRAVISRTMNRKMGKMMVKALSEEMADTLEEGSASPTSPDYSLDS
PGPEKMALAFSEQEEHELPVLSRQASTGSELCSPSPGSGSFGEEPPAPQYTGPFCGRARV
HTDFTPSPYDHDSLKLQKGDVIQIIEKPPVGTWLGLLNGKVGSFKFIYVDVLPEEAVGHA
RPSRRQSKGKRPKPKTLHELLERIGLEEHTSTLLLNGYQTLEDFKELRETHLNELNIMDP
QHRAKLLTAAELLLDYDTGSEEAEEGAESSQEPVAHTVSEPKVDIPRDSGCFEGSESGRD
DAELAGTEEQLQGLSLAGAP

Sequence length

380

Interactions

View interactions

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 102	Pathogenic; Likely pathogenic	rs2124084444, rs1382441067, rs2124083267, rs2124082775	RCV002251711 RCV002251712 RCV002251713 RCV002251714	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
COMBINED IMMUNODEFICIENCY, X-LINKED	—	ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMBINED IMMUNODEFICIENCY DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED COMBINED IMMUNODEFICIENCY DUE TO SASH3 DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	30587197	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	33274208	★★★★★ ★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Associate	35464398	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diverticulitis	Associate	28619727	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Associate	35464398	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Associate	35464398	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	25694352	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Associate	25694352	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	34091115	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	37963845	★★★★★ ★☆☆☆☆ Found in Text Mining only
X Linked Combined Immunodeficiency Diseases	Associate	35464398	★★★★★ ★☆☆☆☆ Found in Text Mining only

SASH3 (SAM and SH3 domain containing 3)