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SH2D1A Gene

protein-coding GIFtS: 69

GC0XP123307

SH2 domain protein 1A
(Previous name: lymphoproliferative syndrome )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: IMD5, LYP)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
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Aliases
DSHP ^¹, ², ³
EBVS ^¹, ²
FLJ18687 ^²
FLJ92177 ^²
IMD5 ^², ⁵
LYP ^², ⁵
MTCP1 ^¹, ²
OTTHUMP00000023976 ^²
SAP ^¹, ², ³
XLP ^¹, ², ⁵
XLPD ^¹, ², ⁵

Descriptions
Duncan disease SH2-protein ^³
Duncan's disease ^²
SH2 domain protein 1A ^²
SLAM-associated protein ^², ³
Signaling lymphocytic activation molecule-associated protein ^³
T cell signal transduction molecule SAP ^²
T-cell signal transduction molecule SAP ^³
lymphoproliferative syndrome ^¹
signaling lymphocyte activation molecule-associated protein ^²

External Ids
HGNC: 10820¹
Entrez Gene: 4068²
UniProtKB: O60880³
Ensembl: ENSG00000183918⁷

Search outside databases for aliases for SH2D1A gene

Previous GC identifers: GC0XP118197 GC0XP120373 GC0XP121432 GC0XP122177 GC0XP123205

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for SH2D1A:

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 this transmembrane protein by

blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its

docking site. This protein can also bind to other related surface molecules that are expressed on

activated T, B and NK cells, thereby modifying signal transduction pathways in these cells.

Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a

rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr

virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript

variants encoding different isoforms have been found for this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880

Function: Inhibitor of the SLAM self-association. Acts by blocking recruitment of the

SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic

region. Mediates interaction between FYN and SLAMF1

Gene Wiki entry for SH2D1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the SH2D1A gene

Entrez Gene cytogenetic band: Xq25-q26 Ensembl cytogenetic band: Xq25 HGNC cytogenetic band: Xq25

SH2D1A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP123307: (about GC identifiers)

Start:	123,307,831 bp from pter
End:	123,334,686 bp from pter
Size:	26,856 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_011786.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880 (See protein sequence)

Recommended Name: SH2 domain-containing protein 1A

Size: 128 amino acids; 14187 Da

Subunit: Interacts with CD84, CD244, LY9, SLAMF1 and FYN

Subcellular location: Cytoplasm (Probable)

PDB structures from and Proteopedia :

1D1Z (3D)

1D4T (3D)

1D4W (3D)

1KA6 (3D)

1KA7 (3D)

1M27 (3D)

Secondary accessions: O95383 O95384 O95385 O95386 Q9UNR0

Alternative splicing: 6 isoforms: O60880-1 O60880-2 O60880-3 O60880-4 O60880-5 O60880-6

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_001108409.1 NP_002342.1

ENSEMBL proteins:

ENSP00000353126 ENSP00000377985 ENSP00000377986 ENSP00000360181

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (SH2D1A/SAP)
	Human Recombinant Proteins from Abnova (SH2D1A)

OriGene Purified Recombinant Human Protein: SH2D1A

1 Gene Ontology (GO) cellular component term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	9774102

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Antibodies for SH2D1A:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for SH2D1A
	Browse R&D Systems for Antibodies
	Cell Signaling Technology (CST) Antibodies for SH2D1A
	Antibodies from Abcam (SH2D1A/SAP), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (SH2D1A)
	Novus Biologicals Antibodies for SH2D1A

Assays for SH2D1A:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry O60880

ProtoNet protein and cluster: O60880

1 Blocks protein family: IPB000980 SH2 domain signature

UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880

Similarity: Contains 1 SH2 domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SH2D1A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SH2D1A)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002351

Applied Biosystems Silencer® siRNAs for SH2D1A

Sigma-Aldrich siRNA and siRNA Panels for SH2D1A

Sigma-Aldrich shRNA for SH2D1A

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for SH2D1A
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001114937
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001114937
untagged cDNA clones in CMV expression vector (see all 2): NM_001114937

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_002351

UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880

Function: Inhibitor of the SLAM self-association. Acts by blocking recruitment of the

SH2-domain-containing signal-transduction molecule SHP-2 to a docking site in the SLAM cytoplasmic

region. Mediates interaction between FYN and SLAMF1

Genatlas biochemistry entry for SH2D1A:

SH2 domain protein 1A,15kDa,T cell specific SLAM (signaling lymphocyte-activation

molecule)-associated protein,putative regulator of the signal transduction pathways initiated by

interactions between the SLAM molecules at the interface between T and B cells

2 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Sh2d1a):

hematopoietic system

immune system

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005070	SH3/SH2 adaptor activity	NAS	9774102
GO:0005515	protein binding	IEA	--

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for SH2D1A (Your Favorite Gene powered by Ingenuity)

Natural Killer Cell Signaling

GeneDecks SH2D1A for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for SH2D1A

5/30 Interacting proteins for SH2D1A (O60880² ENSP00000360181³) via UniProtKB, MINT, and/or STRING (see all 30 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FYN	P06241², ENSP00000357656³	MINT-3371929 MINT-3371954 STRING (score=.999)
FYB	O15117², ENSP00000263405³	MINT-56628 MINT-56623 STRING (score=.87)
CD244	Q9BZW8², ENSP00000357012³	MINT-3371771 STRING (score=.999)
SLAMF1	Q13291², ENSP00000306190³	MINT-59435 STRING (score=.999)
CDC42P2	P60953², ENSP00000314458³	MINT-3371982 STRING (score=.757)

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006959	humoral immune response	IEA	--
GO:0006968	cellular defense response	NAS	9774102
GO:0007267	cell-cell signaling	IDA	9774102
GO:0045954	positive regulation of natural killer cell mediated cytotoxicity	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for SH2D1A
4 Novoseek chemical compound relationships for SH2D1A gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphotyrosine	52.73	7	10549287 (2), 11258422 (1), 11689425 (1), 10607564 (1) (see all 5)
tyrosine	47.39	38	16847311 (2), 11806999 (2), 11313386 (2), 11477403 (2) (see all 22)
calcium	0.00	7	19150402 (3), 16983070 (1)
threonine	0.00	1	11806999 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (SH2D1A)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (SH2D1A)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_002351

Sigma-Aldrich siRNA and siRNA Panels for SH2D1A

Sigma-Aldrich shRNA for SH2D1A

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_001114937 NM_002351

REFSEQ mRNAs for SH2D1A gene (2 alternative transcripts):

NM_001114937.1 NM_002351.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_001114937 NM_002351

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001114937
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001114937
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_001114937

Additional cDNA sequence:

AF072930.1 AF073019.1 AF100541.1 AF100542.1 AF100543.1 AK311645.1 AK311911.1 AL023657.1

BC020732.1 CR542031.1 CR542043.1

2 DOTS entries:

DT.409997 DT.121297086

24/48 AceView cDNA sequences (see all 48 ):

AU185696 CR542031 BC020732 BF056252 AF100540 AW183584 AL023657 AF100539

AI399641 AF100543 AF100542 NM_002351 AF100541 CR542043 AF072930 AI338791

BE468272 CD700810 AW327502 BX105118 BG547181 AI377357 AA233116 AI203763

highest scoring ESTs for SH2D1A:

AF100539 AL023657 AA190204 AA233116 AA243694 AA585096 AF072930 AF073019 AF100540 AF100541

Unigene Cluster for SH2D1A:

SH2 domain protein 1A

Hs.349094 [show with all ESTs]

Unigene Representative Sequence: AL023657

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SH2D1A (see all 8 )

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	·	4c	·	4d	^	5a	·	5b	·	5c	·	5d
SP1:							-
SP2:
SP3:																					-
SP4:											-				-
SP5:															-

About this scheme

ECgene alternative splicing isoforms for SH2D1A

4 Ensembl transcripts including schematic representations:

ENST00000360027 ENST00000394475 ENST00000394476 ENST00000371139

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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SH2D1A expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for SH2D1A

¹ / ² / ³

10 probe-sets matching SH2D1A gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38147_at²^{, 3}	U95-A	1	1.00	1.00	0.96	1.27	AL023657	1.00	1.00	1.00	1
31945_s_at²^{, 3}	U95-A	1	1.00	1.00	0.89	0.80	AF100539	1.00	1.00	1.00	1
211210_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF100539	1.00	1.00	1.00	1
211209_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF100540	0.80	1.00	0.91	1
211211_x_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF100542	0.80	1.00	0.91	1
210116_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF072930	0.80	1.00	0.91	1
211210_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211209_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
211211_x_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
210116_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks SH2D1A for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
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About these images

CGAP SAGE TAG: --

SOURCE GeneReport for Unigene cluster: Hs.349094
Expression variation in blood from EXPOLDB for SH2D1A
UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880
Tissue specificity: Expressed at a high level in thymus and lung, with a lower level of expression
in spleen and liver

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for SH2D1A gene from 5/6 species (see all 6 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	SH2D1A¹	--	SH2 domain protein 1A	93.49(n) 93.75(a)	612899 XM_847029.1 XP_852122.1
cow (Bos taurus)	SH2D1A¹	--	SH2 domain protein 1A	91.67(n) 93.75(a)	613356 NM_001034733.1 NP_001029905.1
rat (Rattus norvegicus)	Sh2d1a¹	--	SH2 domain protein 1A	87.57(n) 90.48(a)	501502 XM_576903.2 XP_576903.1
mouse (Mus musculus)	Sh2d1a^{1, 5}	X⁵	SH2 domain protein 1A^{1, 5}	85.98(n)¹ 88.89(a)¹	20400¹ NM_011364.3¹ NP_035494.1¹ AA255258⁵ AF072903⁵ (see all 19)
zebrafish (Danio rerio)	LOC100148259¹	--	similar to SH2 domain protein 1A	63.24(n) 63.55(a)	100148259 XM_001920613.1 XP_001920648.1

About this table Species with no ortholog for SH2D1A

ENSEMBL Gene Tree for SH2D1A

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for SH2D1A gene

SH2D1B²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
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10/91 NCBI SNPs in SH2D1A are shown (see all 91 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 27)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--				--
	rs990545^1,2	A,C,F,H,O	123307543(+)	`GCCCAA/GAGTTC`	1	--	ng5¹		13		EA NA EU WA	1032
	rs6649207^1,2	A,C,F,H	123334243(+)	`TCTGGA/GTTGTG`	2	--	ut3¹ ese³		4		EU EA WA	412
	rs7357894^1,2	A,C,F,H	123307680(+)	`TCAGTG/ATGTTT`	1	--	ng5¹		4		EU EA WA	418
	rs12164382^1,2	C,F,H	123307828(+)	`ATCCCT/CGTCTG`	1	--	ng5¹		3		EU EA	284
--	rs5958475^1,2	A,C	123333134(+)	`ATTCCA/GTAGGT`	2	--	ut3¹ ese³		0	--	--	--	--
--	rs7876065^1,2	A,C	123333785(+)	`TTTTTA/TAAAAA`	2	--	ut3¹		0	--	--	--	--
--	rs6608190^1,2	A,C,F,H	123324131(+)	`tgctaT/Gtctca`	1	--	int¹		4		EU EA WA	418
	rs2049995^1,2	A,C,F,H	123327672(+)	`ATTATG/TTACCA`	1	--	int¹		4		EU EA WA	418
	rs5956646^1,2	A,C,F,H	123315919(+)	`TTCTAG/CCTCCA`	1	--	int¹		4		EU EA WA	418
	rs2239481^1,2	A,C,F,H	123331255(-)	`AACCCA/GTCCTC`	1	--	int¹		4		EU EA WA	416

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HapMap Linkage Disequilibrium images for SH2D1A (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 300490 disorders: 308240

UniProtKB/Swiss-Prot: SH21A_HUMAN, O60880

Defects in SH2D1A are a cause of lymphoproliferative syndrome X-linked type 1 (XLP1)

[MIM:308240]; also known as X-linked lymphoproliferative disease (XLPD) or Duncan disease. XLP is

a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr

virus (EBV). Symptoms include severe or fatal mononucleosis, acquired hypogammaglobulinemia,

pancytopenia and malignant lymphoma

10/23 Novoseek disease relationships for SH2D1A gene (see all 23 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
lymphoproliferative syndrome	98.23	64	12629654 (3), 11159547 (2), 16720617 (2), 11049992 (2) (see all 47)
x-linked lymphoproliferative syndrome	96.55	22	12545174 (1), 15992610 (1), 10975798 (1), 11258422 (1) (see all 16)
dysgammaglobulinemia	92.00	2	16105760 (1), 11520777 (1)
ebv infections	86.16	25	11493483 (3), 12224001 (2), 11049992 (2), 10598819 (1) (see all 16)
infectious mononucleosis	85.17	8	11493483 (2), 15841490 (1), 16105760 (1), 11213803 (1) (see all 6)
hypogammaglobulinemia	81.05	4	15761493 (1), 16788096 (1), 11493483 (1), 16328363 (1)
lymphohistiocytosis hemophagocytic	79.32	1	11159547 (1)
common variable immunodeficiency	72.22	5	15320910 (1), 18223336 (1), 18051214 (1), 12894850 (1)
familial hemophagocytic lymphohistiocytosis	69.26	2	18000860 (2)
immunodeficiency	66.77	31	18212118 (1), 18815745 (1), 10203490 (1), 10898506 (1) (see all 24)

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1 PharmGKB disease relationship for SH2D1A gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1	FA GN	12086872 12730115

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GeneTests: SH2D1A

Lymphoproliferative Disease

Human Gene Mutation Database: SH2D1A
Genetic Association Database: SH2D1A
Human Genome Epidemiology Navigator: SH2D1A (2 documents)

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
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10/150 PubMed articles for SH2D1A gene (see all 150 ):

SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. (PubMed id 11493483)^{1, 3, 4, 6} Sumazaki R....Miyawaki T. (2001)
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. (PubMed id 9774102)^{1, 2, 3, 4} Sayos J....Terhorst C. (1998)
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. (PubMed id 9771704)^{1, 2, 3, 4} Coffey A.J.... Bentley D.R. (1998)
Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. (PubMed id 11477068)^{1, 3, 4} Morra M....Terhorst C. (2001)
Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. (PubMed id 15320910)^{1, 3, 6} Eastwood D....Gaspar H.B. (2004)
SAP couples Fyn to SLAM immune receptors. (PubMed id 12545174)^{1, 3, 4} Chan B....Eck M.J. (2003)
Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition. (PubMed id 10549287)^{1, 3, 4} Poy F.... Eck M.J. (1999)
Disease-causing SAP mutants are defective in ligand binding and protein folding. (PubMed id 14674764)^{1, 3, 4} Li C....Shun-Cheng Li S. (2003)
Defective NK cell activation in X-linked lymphoproliferative disease. (PubMed id 11034354)^{1, 3, 4} Benoit L.... Tan R. (2000)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{3, 4} Ross M.T.... Bentley D.R. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 4068	HGNC: 10820	AceView: SH2D1A	Ensembl:ENSG00000183918	euGenes: HUgn4068
ECgene: SH2D1A	H-InvDB: SH2D1A

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for SH2D1A	Genetics and Cytogenetics in Oncology and Haematology
SH2D1Abase	http://bioinf.uta.fi/SH2D1Abase/
GeneReviews	http://www.genetests.org/query?gene=SH2D1A

Licensable Technologies for SH2D1A
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for SH2D1A:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for SH2D1A-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for SH2D1A		Antibodies for SH2D1A
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for SH2D1A		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (SH2D1A)
	Antibodies (SH2D1A)
	Chimera RNAi (SH2D1A)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Antibodies & Assays for SH2D1A

	Recombinant Proteins (SH2D1A/SAP)
	Antibodies (SH2D1A/SAP)

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for SH2D1A

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for SH2D1A

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
SH2D1A Gene at Home site.
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SH2D1A Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for SH2D1A

Summaries
for SH2D1A

Genomic Location
for SH2D1A

Proteins
for SH2D1A

Protein Domains/
Families
for SH2D1A

Gene Function
for SH2D1A

Pathways & Interactions
for SH2D1A

Drugs & Compounds
for SH2D1A

Transcripts
for SH2D1A

Expression
for SH2D1A

Orthologs
for SH2D1A

Paralogs
for SH2D1A

SNPs/Variants
for SH2D1A

Disorders & Mutations
for SH2D1A

Medical News
for SH2D1A

Publications
for SH2D1A

Search for SH2D1A

Genome Databases showing SH2D1A

Other Databases showing SH2D1A

Specialized Databases showing SH2D1A

Licensable Technologies
for SH2D1A

Services
for SH2D1A

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

SH2D1A (Gene Symbol)
DSHP
EBVS
FLJ18687
FLJ92177
IMD5
LYP
MTCP1
OTTHUMP00000023976
SAP
XLP
XLPD
Duncan disease SH2-protein
Duncan's disease
SH2 domain protein 1A
SLAM-associated protein
Signaling lymphocytic activation molecule-associated protein
T cell signal transduction molecule SAP
T-cell signal transduction molecule SAP
lymphoproliferative syndrome
signaling lymphocyte activation molecule-associated protein

SH2D1A Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor SH2D1A

Summariesfor SH2D1A

Genomic Locationfor SH2D1A

Proteinsfor SH2D1A

Protein Domains/Familiesfor SH2D1A

Gene Functionfor SH2D1A

Pathways & Interactionsfor SH2D1A

Drugs & Compoundsfor SH2D1A

Transcriptsfor SH2D1A

Expression for SH2D1A

Orthologsfor SH2D1A

Paralogsfor SH2D1A

SNPs/Variantsfor SH2D1A

Disorders & Mutationsfor SH2D1A

Medical Newsfor SH2D1A

Publicationsfor SH2D1A

Search for SH2D1A

Genome Databases showing SH2D1A

Other Databases showing SH2D1A

Specialized Databases showing SH2D1A

Licensable Technologiesfor SH2D1A

Servicesfor SH2D1A

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for SH2D1A

Summaries
for SH2D1A

Genomic Location
for SH2D1A

Proteins
for SH2D1A

Protein Domains/
Families
for SH2D1A

Gene Function
for SH2D1A

Pathways & Interactions
for SH2D1A

Drugs & Compounds
for SH2D1A

Transcripts
for SH2D1A

Expression
for SH2D1A

Orthologs
for SH2D1A

Paralogs
for SH2D1A

SNPs/Variants
for SH2D1A

Disorders & Mutations
for SH2D1A

Medical News
for SH2D1A

Publications
for SH2D1A

Licensable Technologies
for SH2D1A

Services
for SH2D1A