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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SH2D1A Gene

protein-coding GIFtS: 67
GCID: GC0XP123480

SH2 domain containing 1A

(Previous names: lymphoproliferative syndrome, SH2 domain protein 1A )
(Previous symbols: IMD5, LYP)

Explore 38 diseases affiliated with
SH2D1A via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
SH2 Domain Containing 1A¹ ²		Duncan Disease SH2-Protein² ³
DSHP¹ ² ³		SLAM-Associated Protein² ³
SAP¹ ² ³		T-Cell Signal Transduction Molecule SAP² ³
IMD5¹ ² ⁵		Lymphoproliferative Syndrome¹
LYP¹ ² ⁵		SH2 Domain Protein 1A¹
XLP¹ ² ⁵		SAP/SH2D1A²
XLPD¹ ² ⁵		SH2 Domain-Containing Protein 1A²
EBVS¹ ²		Signaling Lymphocyte Activation Molecule-Associated Protein²
MTCP1¹ ²		SLAM Associated Protein/SH2 Domain Protein 1A²
Signaling Lymphocytic Activation Molecule-Associated Protein² ³		T Cell Signal Transduction Molecule SAP²

External Ids:	HGNC: 10820¹	Entrez Gene: 4068²	Ensembl: ENSG00000183918⁷	OMIM: 300490⁵	UniProtKB: O60880³

Export aliases for SH2D1A gene to outside databases

Previous GC identifers: GC0XP118197 GC0XP120373 GC0XP121432 GC0XP122177 GC0XP123205 GC0XP123307 GC0XP112860

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

Entrez Gene 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, Jul 2008)

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. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3

Gene Wiki entry for SH2D1A

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000023.10 NC_018934.1 NT_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SH2D1A gene promoter:
AML1a AP-1 Brachyury ATF-2 NF-kappaB MEF-2A Pax-3 aMEF-2 c-Jun NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SH2D1A promoter sequence

Search SABiosciences Chromatin IP Primers for SH2D1A

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SH2D1A

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq25 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)
SH2D1A gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP123480: view genomic region (about GC identifiers)

Start:	123,480,132 bp from pter	End:	123,507,010 bp from pter
Size:	26,879 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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 NTRK1, NTRK2 and NTRK3 (By similarity). Interacts with CD84, CD244, LY9, SLAMF1 and FYN

Subcellular location: Cytoplasm (Probable)

6 PDB 3D structures from and Proteopedia for SH2D1A:

1D1Z (3D)

1D4T (3D)

1D4W (3D)

1KA6 (3D)

1KA7 (3D)

1M27 (3D)

Secondary accessions: A8MSW0 O95383 O95384 O95385 O95386 Q6FGS6 Q9UNR0

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

Explore the universe of human proteins at neXtProt for SH2D1A: NX_O60880

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O60880

SH2D1A Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001108409.1 NP_002342.1

ENSEMBL proteins:

ENSP00000360181 ENSP00000353126

Human Recombinant Protein Products:

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	Uscn Proteins for SH2D1A

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

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

SH2D1A for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SH2D1A

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SH2D1A for domains About GeneDecksing

2 InterPro domains/families:

IPR017289 SH2_prot_1A

IPR000980 SH2

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 ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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. May also regulate the activity of the neurotrophin receptors NTRK1, NTRK2 and NTRK3

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

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		hsa-miR-142-5p hsa-miR-548j hsa-miR-548i hsa-miR-548k hsa-miR-605 hsa-miR-885-5p hsa-miR-624 hsa-miR-340

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SH2D1A

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005070	SH3/SH2 adaptor activity	NAS	9774102

SH2D1A for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for SH2D1A: Sh2d1a^tm1Pls Sh2d1a^tm2.1Vei Sh2d1a^tm1Cpt Sh2d1a^tm1Lyin
     3 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Sh2d1a):

cellular

hematopoietic system

immune system

SH2D1A for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Tyrosine Kinases / Adaptors

Tyrosine Kinases / Adaptors

1.00

Lymphocyte Signaling

Lymphocyte Signaling

1.00

Direct p53 effectors

Direct p53 effectors

1.00

Natural killer cell mediated cytotoxicity

Natural killer cell mediated cytotoxicity

1.00

Measles

Measles

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Cell Signaling Technology (CST) Pathways for SH2D1A

	Lymphocyte Signaling
	Tyrosine Kinases / Adaptors

1 BioSystems Pathway for SH2D1A

Direct p53 effectors

2 Kegg Pathways (Kegg details for SH2D1A):

	Natural killer cell mediated cytotoxicity
	Measles

SH2D1A for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/27 Interacting proteins for SH2D1A (O60880^{2, 3} ENSP00000360181⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SLAMF1	Q13291²^,³, ENSP00000306190⁴	MINT-8031819 MINT-8031894 MINT-8031924 MINT-59435 MINT-8031803 MINT-8031939 MINT-8031784 MINT-8031668 MINT-8031709 MINT-8031694 MINT-8031879 MINT-8031909 MINT-8027270 I2D: score=8 STRING: ENSP00000306190
ARHGEF7	Q14155²^,³, ENSP00000364893⁴	MINT-3371844 MINT-3371676 MINT-3371742 MINT-3371897 MINT-3371714 MINT-3374885 I2D: score=2 STRING: ENSP00000364893
FYN	P06241²^,³, ENSP00000357656⁴	MINT-3371929 MINT-3371954 I2D: score=6 STRING: ENSP00000357656
DOK1	Q99704²^,³, ENSP00000233668⁴	MINT-8037441 MINT-8037456 I2D: score=4 STRING: ENSP00000233668
ARHGEF6	Q15052²^,³, ENSP00000250617⁴	MINT-3371695 MINT-3371874 I2D: score=2 STRING: ENSP00000250617

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

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	--

SH2D1A for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SH2D1A for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SH2D1A
6 Novoseek chemical compound relationships for SH2D1A gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
phosphotyrosine	50.9	7	10549287 (2), 11258422 (1), 11689425 (1), 10607564 (1) (see all 5)
tyrosine	45	38	16847311 (2), 11806999 (2), 11313386 (2), 11477403 (2) (see all 22)
inositol	19.9	5	11313386 (1), 15315965 (1)
fluconazole	19.6	6	10203490 (2), 19685156 (1), 10395861 (1)
calcium	0	7	19150402 (3), 16983070 (1)
threonine	0	1	11806999 (1)

Search CenterWatch for drugs/clinical trials and news about SH2D1A / SH21A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SH2D1A gene (2 alternative transcripts):

NM_001114937.2 NM_002351.4

Unigene Cluster for SH2D1A:

SH2 domain containing 1A

Hs.349094 [show with all ESTs]

Unigene Representative Sequence: AL023657

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000371139(uc004euf.4 uc004euh.4 uc004eug.4 uc010nqw.3 uc004eui.4 uc010nqx.3)

ENST00000360027 ENST00000470647 ENST00000491950 ENST00000494073 ENST00000477673

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		hsa-miR-142-5p hsa-miR-548j hsa-miR-548i hsa-miR-548k hsa-miR-605 hsa-miR-885-5p hsa-miR-624 hsa-miR-340

		SwitchGear 3'UTR luciferase reporter plasmid: SH2D1A 3' UTR sequence

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Additional cDNA sequence:

AB586694.1 AF072930.1 AF073019.1 AF100541.1 AF100542.1 AF100543.1 AK311645.1 AK311911.1

AL023657.1 BC020732.1 CR542031.1 CR542043.1 JX512648.1

2 DOTS entries:

DT.409997 DT.121297086

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

AF100539 AF100540 AF100541 AF100542 AL023657 BC020732 CR542043 AI399641

CR542031 AW183584 NM_002351 AF072930 AU185696 AF100543 BF056252 BX105118

AI203763 BP432686 AW327502 AL596614 BX456820 N89899 CD640907 AA243694

GeneLoc Exon Structure

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

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

ECgene alternative splicing isoforms for SH2D1A

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SH2D1A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

SH2D1A expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See SH2D1A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SH2D1A

SOURCE GeneReport for Unigene cluster: Hs.349094

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.

Expressed in peripheral blood leukocytes, including T lymphocytes. Tends to be expressed at lower levels in peripheral

blood leukocytes in patients with rheumatoid arthritis

SABiosciences Expression via Pathway-Focused PCR Arrays including SH2D1A:

Type I Interferon Response in human mouse rat

Notch Signaling Pathway in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for SH2D1A gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Sh2d1a^{1 , 5}	SH2 domain protein 1A^{1, 5}	85.98(n)¹ 88.89(a)¹	X (23.20 cM)⁵ 20400¹ NM_011364.3¹ NP_035494.1¹ 42502453⁵
chicken (Gallus gallus)	Aves	LOC100857869¹	SH2 domain-containing protein 1A-like	70.03(n) 69.75(a)	100857869 XM_003641119.1 XP_003641167.1
African clawed frog (Xenopus laevis)	Amphibia	Xl.28871²	Xenopus laevis signal transduction regulatory protein more	75.99(n)	AF401351.1
zebrafish (Danio rerio)	Actinopterygii	LOC100148259¹	SH2 domain-containing protein 1A-like	64.71(n) 65.69(a)	100148259 XM_001920613.2 XP_001920648.2

ENSEMBL Gene Tree for SH2D1A (if available)
TreeFam Gene Tree for SH2D1A (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SH2D1A gene

SH2D1B²

7 SIMAP similar genes for SH2D1A using alignment to 4 protein entries: SH21A_HUMAN (see all proteins):

INPP5D SH2D1B INPPL1 BCR-ABL1 e19a2 BCR-ABL1 BCR/ABL fusion

ABL2

SH2D1A for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs111033629^1,2	C	pathogenic	123480495(+)	`GCCATG/TGACGC`	4	M I	mis¹		0	--	--	--	--
rs111033623^1,2	C	pathogenic	123499636(+)	`CATACC/TGAGTG`	4	R *	stg¹		0	--	--	--	--
rs111033630^1,2	C	pathogenic	123499637(+)	`ATACCG/TAGTGT`	4	R L	mis¹		0	--	--	--	--
rs111033628^1,2	C	pathogenic	123499645(+)	`TGTCCC/TAGACA`	4	Q *	stg¹		0	--	--	--	--
rs111033626^1,2	C	pathogenic	123504126(+)	`GTATCC/TAGTTG`	4	P L	mis¹		0	--	--	--	--
rs111033625^1,2	C	pathogenic	123505239(+)	`CCCCAA/TGAAGA`	4	R *	stop-lost		0	--	--	--	--
rs182465377^1,2		--	123478168(+)	`GAAGAA/GAGTCA`	2	--	us2k¹		0	--	--	--	--
rs186882348^1,2		--	123478664(+)	`TGGACC/TGATAT`	2	--	us2k¹		0	--	--	--	--
rs190188266^1,2		--	123478699(+)	`TTTCTA/CTTTGA`	2	--	us2k¹		0	--	--	--	--
rs183470698^1,2		--	123478765(+)	`GGAGAC/GCCCAA`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SH2D1A (123480132 - 123507010 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for SH2D1A: --
Human Gene Mutation Database (HGMD): SH2D1A

Locus Specific Mutation Databases (LSDB): SH2D1A

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SH2D1A

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SH2D1A for disorders           About GeneDecksing

OMIM gene information: 300490
OMIM 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

20/38 diseases for SH2D1A (see all 38): About MalaCards

lymphoproliferative syndrome lymphoproliferative disease, x-linked chediak-higashi syndrome b-cell non-hodgkin lymphoma

common variable immunodeficiency hemophagocytic lymphohistiocytosis immunodeficiency non-hodgkin lymphoma

infectious mononucleosis wiskott-aldrich syndrome dysgammaglobulinemia growth hormone deficiency

limbic encephalitis hodgkin's lymphoma burkitt's lymphoma candidiasis

oral candidiasis aplastic anemia vasculitis lymphocytic vasculitis

8 diseases from the University of Copenhagen DISEASES database for SH2D1A:

Infectious mononucleosis Hemophagocytic lymphohistiocytosis Agammaglobulinemia Dysgammaglobulinemia

Lymphoma Autoimmune lymphoproliferative syndrome Chediak-Higashi syndrome X-linked hyper IgM syndrome

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

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lymphoproliferative syndrome	98.2	72	12629654 (3), 11159547 (2), 19570996 (2), 16720617 (2) (see all 54)
x-linked lymphoproliferative syndrome	96.5	24	19595300 (2), 12545174 (1), 15992610 (1), 10975798 (1) (see all 17)
dysgammaglobulinemia	91.1	2	16105760 (1), 11520777 (1)
ebv infections	86	26	11493483 (3), 12224001 (2), 11049992 (2), 10598819 (1) (see all 17)
infectious mononucleosis	85.5	8	11493483 (2), 15841490 (1), 16105760 (1), 11213803 (1) (see all 6)
hypogammaglobulinemia	80.8	5	15761493 (1), 16788096 (1), 19903677 (1), 11493483 (1) (see all 5)
lymphohistiocytosis hemophagocytic	77.1	1	11159547 (1)
common variable immunodeficiency	70.4	5	15320910 (1), 18223336 (1), 18051214 (1), 12894850 (1)
immunodeficiency	67	35	18212118 (1), 18815745 (1), 10203490 (1), 10898506 (1) (see all 25)
familial hemophagocytic lymphohistiocytosis	66.9	2	18000860 (2)

GeneTests: SH2D1A

Lymphoproliferative Disease, X-Linked

Genetic Association Database (GAD): SH2D1A
Human Genome Epidemiology (HuGE) Navigator: SH2D1A (3 documents)

Export disorders for SH2D1A gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SH2D1A gene, integrated from 9 sources (see all 180):
(articles sorted by number of sources associating them with SH2D1A)

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SH2D1A mutations in Japanese males with severe Epstein-Barr virus- associated illnesses. (PubMed id 11493483)^{1, 2, 4, 9} 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, 9} 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, 9} Coffey A.J.... Bentley D.R. (1998)
Decreased expression of signaling lymphocytic-activation molecule-associated protein (SAP) transcripts in T cells from patients with rheumatoid arthritis. (PubMed id 11282995)^{1, 2, 9} Takei M....Sawada S. (2001)
Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. (PubMed id 11477068)^{1, 2, 9} Morra M.... Terhorst C. (2001)
Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. (PubMed id 15320910)^{1, 4, 9} Eastwood D....Gaspar H.B. (2004)
SAP couples Fyn to SLAM immune receptors. (PubMed id 12545174)^{1, 2, 9} 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, 2, 9} Poy F.... Eck M.J. (1999)
Defective NK cell activation in X-linked lymphoproliferative disease. (PubMed id 11034354)^{1, 2, 9} Benoit L.... Tan R. (2000)
The DNA sequence of the human X chromosome. (PubMed id 15772651)^{1, 2} Ross M.T.... Bentley D.R. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4068	HGNC: 10820	AceView: SH2D1A	Ensembl:ENSG00000183918	euGenes: HUgn4068
ECgene: SH2D1A	Kegg: 4068	H-InvDB: SH2D1A

(According to HUGE)
About This Section

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

Name	Description
PharmGKB entry for SH2D1A	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for SH2D1A	Genetics and Cytogenetics in Oncology and Haematology
SH2D1Abase	http://bioinf.uta.fi/SH2D1Abase/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SH2D1A

Intellectual Property for SH2D1A gene
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SH2D1A Gene

SH2 domain containing 1A

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SH2D1A (Gene Symbol)
SH2 Domain Containing 1A
DSHP
SAP
IMD5
LYP
XLP
XLPD
EBVS
MTCP1
Signaling Lymphocytic Activation Molecule-Associated Protein
Duncan Disease SH2-Protein
SLAM-Associated Protein
T-Cell Signal Transduction Molecule SAP
Lymphoproliferative Syndrome
SH2 Domain Protein 1A
SAP/SH2D1A
SH2 Domain-Containing Protein 1A
Signaling Lymphocyte Activation Molecule-Associated Protein
SLAM Associated Protein/SH2 Domain Protein 1A
T Cell Signal Transduction Molecule SAP

Lymphoma
Autoimmune Diseases
Vasculitis
Candidiasis
Lymphoproliferative Disease, X-Linked
Burkitt Lymphoma
Lymphoproliferative Disorders
Dysgammaglobulinemia
Hodgkin Disease
immunodeficiency
Common Variable Immunodeficiency
familial hemophagocytic lymphohistiocytosis
Leukemia
Lymphohistiocytosis Hemophagocytic
X-Linked Lymphoproliferative Syndrome
Infectious Mononucleosis
Anemia Aplastic
Tumors
EBV Infections
Lymphoma Non-Hodgkins
genetic disorder
LYMPHOPROLIFERATIVE SYNDROME
virus infection
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SH2D1A Gene

SH2 domain containing 1A

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