SH2D1A (SH2 domain containing 1A)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 4068
Gene name SH2 domain containing 1A
Gene symbol SH2D1A
Synonyms (NCBI Gene)
DSHPEBVSIMD5LYPMTCP1SAPSAP/SH2D1AXLPXLPDXLPD1
Chromosome X
Chromosome location Xq25
Summary This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of
SNPs SNP information provided by dbSNP.
16
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
SNP ID Visualize variation Clinical significance Consequence
rs111033623 C>T Pathogenic Coding sequence variant, stop gained
rs111033624 G>C Pathogenic Coding sequence variant, missense variant
rs111033625 T>A,C Pathogenic, likely-pathogenic Terminator codon variant, stop lost
rs111033626 C>T Pathogenic Coding sequence variant, missense variant
rs111033627 C>T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
29
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (29)
miRTarBase ID miRNA Experiments Reference
MIRT021557 hsa-miR-142-3p Microarray 17612493
MIRT722321 hsa-miR-6760-3p HITS-CLIP 19536157
MIRT722320 hsa-miR-1208 HITS-CLIP 19536157
MIRT722319 hsa-miR-5701 HITS-CLIP 19536157
MIRT722318 hsa-miR-181b-2-3p HITS-CLIP 19536157
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
ATF5 Unknown 18832568
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (19)
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 9774102, 10549287, 11389028, 11477068, 11489943, 11806999, 11823424, 12225753, 12545174, 14674764, 15841490, 16920955, 16983070, 20231852, 22912825, 23346089, 24642916, 24688028, 24728074, 25416956, 25910212, 26221972, 32296183, 32814053
GO:0005737 Component Cytoplasm IDA 9774102
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
300490 10820 ENSG00000183918
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60880
Protein name SH2 domain-containing protein 1A (Duncan disease SH2-protein) (Signaling lymphocytic activation molecule-associated protein) (SLAM-associated protein) (T-cell signal transduction molecule SAP)
Protein function Cytoplasmic adapter regulating receptors of the signaling lymphocytic activation molecule (SLAM) family such as SLAMF1, CD244, LY9, CD84, SLAMF6 and SLAMF7. In SLAM signaling seems to cooperate with SH2D1B/EAT-2. Initially it has been proposed t
PDB 1D1Z , 1D4T , 1D4W , 1KA6 , 1KA7 , 1M27
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 6 → 87 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed at a high level in thymus and lung, with a lower level of expression in spleen and liver. Expressed in peripheral blood leukocytes, including T-lymphocytes. Tends to be expressed at lower levels in peripheral blood leukocytes
Sequence
Sequence length 128
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Natural killer cell mediated cytotoxicity   Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Autoinflammatory syndrome Likely pathogenic; Pathogenic rs2147531380, rs2147519353, rs2147534056 RCV002264391
RCV002264437
RCV002264508
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1 Pathogenic rs1603238847 RCV005887430
RCV005931462
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
X-linked lymphoproliferative disease due to SH2D1A deficiency Likely pathogenic; Pathogenic rs2147519353, rs2147534047, rs746035909, rs2147531379, rs2147531326, rs2147534019, rs2522819003, rs2147534056, rs2522819045, rs2522797198, rs111033623, rs111033628, rs2522814882, rs111033624, rs1603238847
View all (13 more)		 RCV001946671
RCV001963121
RCV001949632
RCV002021792
RCV002250349
View all (25 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked lymphoproliferative syndrome Pathogenic rs111033623, rs1569527111 RCV001270156
RCV000781847
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (10)
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
Holoprosencephaly 13, X-linked Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Benign; Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lymphoproliferative disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LYMPHOPROLIFERATIVE DISORDERS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (136)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 11520777, 12447665, 12894850, 15320910, 29083052
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 23136988, 28233628
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 11431691, 25999144
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28331492, 29921391, 30473463, 31034143
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 12224001
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 11159547, 11493483, 23944711 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia BEFREE 23280491
★★★★★
★☆☆☆☆
Found in Text Mining only
Alkaptonuria Alkaptonuria BEFREE 22850426
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 16564782, 19799114, 22850426
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28822818
★★★★★
★☆☆☆☆
Found in Text Mining only