SH2D1A - SH2 domain containing 1A Gene

Homo sapiens

Also known as LYP; SAP; XLP; DSHP; EBVS; IMD5; XLPD; MTCP1; XLPD1; SAP/SH2D1A

Gene ID: 4068 | Gene type: protein coding

About SH2D1A

Cytogenetic location: Xq25 Genomic coordinates (GRCh38): X:124,346,563-124,373,160 (from NCBI)

This gene has 16 transcripts (splice variants), 199 orthologues, 13 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 17.0), spleen (RPKM 6.1) and 7 other tissues.

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 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]

SH2D1A Products(2)

mRNA	Protein	Name
NM_001114937.3	NP_001108409.1	SH2 domain-containing protein 1A isoform 2
NM_002351.5	NP_002342.1	SH2 domain-containing protein 1A isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	9774102	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	15713798	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in natural killer cell activation	IDA IDA: Inferred from direct assay	15713798	GOA
involved in negative regulation of T cell receptor signaling pathway	IDA IDA: Inferred from direct assay	9774102	GOA
involved in regulation of immune response	IMP IMP: Inferred from mutant phenotype	9774102	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	9774102	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SH2D1A Protein Structure

SH2

0
100
128 a.a.

Protein Preferred Names

Protein Names

SH2 domain-containing protein 1A

Duncan disease SH2-protein

Recombinant SH2D1A Proteins

Cat. No.	Product Name	Accession	Purity
HY-P71038	SH2D1A Protein, Human (His)	O60880 (M1-P128)	≥95%

Related Diseases

Diseases

Alias

Lymphoproliferative Syndrome, X-Linked, 1

Lymphomatoid Papulosis	Duncan Disease
Purtilo Syndrome	X-Linked Lymphoproliferative Syndrome
Xlp	X-Linked Lymphoproliferative Disease
XLP1	Lyp
Lymphoproliferative Disease, X-Linked	Xlpd
X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency	Ebv Infection, Severe, Susceptibility To
Ebvs	Immunodeficiency 5
Imd5	X-Linked Lymphoproliferative Syndrome 1
Epstein-Barr Virus Infection, Familial Fatal	Ebv Infection, Severe
Infectious Mononucleosis, Severe	Infectious Mononucleosis, Severe, Susceptibility To
Immunodeficiency, X-Linked Progressive Combined Variable	Epstein Barr Virus Infection, Familial Fatal
X-Linked Progressive Combined Variable Immunodeficiency 5	Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males
Familial Fatal Epstein-Barr Infection	Severe Susceptibility To Ebv Infection
Severe Susceptibility To Infectious Mononucleosis	Sap Deficiency
Sh2d1a/Slam-Associated Protein Deficiency	X-Linked Lymphoproliferative Syndrome Type 1
X-Linked Progressive Combined Variable Immunodeficiency	Lymphoproliferative Syndrome, X-Linked
Sap	X-Linked Lymphoproliferative Disorder

Lymphoproliferative Syndrome

Lymphoproliferative Disorder	Lymphoproliferative Disorders
Lymphoproliferative Disorders, Susceptibility To

Dysgammaglobulinemia

Hemophagocytic Lymphohistiocytosis

Lymphohistiocytosis, Hemophagocytic	Haemophagocytic Syndrome
Lymphohistiocytosis Hemophagocytic	Hemophagocytic Syndrome
Familial Hemophagocytic Lymphocytosis	Histiocytoses Of Mononuclear Phagocytes
Haemophagocytic Lymphohistiocytosis Nos

Pfeiffer Syndrome

Infectious Mononucleosis	Acs5
Craniofacial-Skeletal-Dermatologic Dysplasia	Acs V
Noack Syndrome	Gammaherpesviral Mononucleosis
Acrocephalosyndactyly Type 5	Pfeiffer Syndrome Type 3
Acrocephalosyndactyly, Type V	Glandular Fever
Pfeiffer Type Acrocephalosyndactyly	Pfeiffer Syndrome Type 2
Acrocephalosyndactylia Type V	Filatov'S Disease
Monocytic Angina	Mononucleosis
Pfeiffer'S Disease	Acsv
Acrocephalosyndactyly, Type 5	Craniofacial-Skeletal-Dermatologic Syndrome
Pfeiffer Syndrome Type 1	Classic Pfeiffer Syndrome
PS	Pfeiffer Syndrome Variant
Dysplasia, Craniofacial-Skeletal-Dermatologic	Pfeiffer
Kissing Disease	Infectious Adenitis
Pfeiffer Disease

Selective Immunoglobulin Deficiency Disease

Lymphoma

Lymphoid Cancer	Lymphomas
Lymphoid Cancers	Lymphoid Neoplasm
Lymphoma Nos	Nhl - [Non-Hodgkin Lymphoma]
Non-Hodgkin Lymphoma	Non-Hodgkin Lymphoma, Nos
Non-Hodgkin Malignant Lymphoma Nos

Common Variable Immunodeficiency

Cvid	Common Variable Agammaglobulinemia
Common Variable Immune Deficiency	Acquired Hypogammaglobulinemia
Hypogamma-Globulinemia, Acquired	Idiopathic Immunoglobulin Deficiency
Primary Antibody Deficiency	Primary Hypogammaglobulinemia
Acquired Agammaglobulinemia	Sporadic Hypogammaglobulinemia
Common Variable Hypogamma-Globulinemia	Immunoglobulin Deficiency, Late-Onset
Common Variable Hypogammaglobulinemia	Immunodeficiency, Common Variable

Lymphoproliferative Syndrome, X-Linked, 2

XLP2	Xiap Deficiency
X-Linked Lymphoproliferative Syndrome 2	X-Linked Lymphoproliferative Disease Due To Xiap Deficiency
Xiap-Related Lymphoproliferative Disease, X-Linked	X-Linked Lymphoproliferative Syndrome Type 2
Xiap Deficiency Syndrome

Autoinflammatory Syndrome

Agammaglobulinemia

Hypogammaglobulinemia	Ighm
Mu Heavy Chain Deficiency	Mu-Heavy Chain Disease
Mu-Hcd	Mu-Chain Disease

Hemophagocytic Lymphohistiocytosis, Familial, 1

Familial Hemophagocytic Lymphohistiocytosis	Fhl
Familial Erythrophagocytic Lymphohistiocytosis	Hemophagocytic Syndrome
FHL1	Hplh1
Hlh1	Fel
Familial Hemophagocytic Lymphohistiocytosis 1	Primary Hemophagocytic Lymphohistiocytosis
Familial Hlh	Hlh
Familial Hemophagocytic Lymphocytosis	Hemophagocytic Lymphohistiocytosis, Familial
Reticulosis, Familial Histiocytic	Hemophagocytic Reticulosis, Familial
Erythrophagocytic Lymphohistiocytosis, Familial	Familial Histiocytic Reticulosis
Familial Hemophagocytic Histiocytosis	Familial Hemophagocytic Reticulosis
Fhlh	Hplh
Primary Hemophagocytic Hymphohistiocytosis	Genetic Hemophagocytic Lymphohistiocytosis
Hemophagocytic Lymphohistiocytosis	Familial Hemophagocytic Lymphohistiocytosis Type 1

Burkitt Lymphoma

Burkitt'S Lymphoma	BL
Burkitt Lymphoma, Somatic	Burkitt Lymphoma/Leukaemia
Burkitt'S Tumor	Burkitt'S Tumor Or Lymphoma
Malignant Lymphoma, Burkitt'S Type	Small Non-Cleaved Cell Lymphoma, Burkitt'S Type
Small Non-Cleaved Cell Lymphoma	Burkitt Tumor
Burkitts Lymphoma	Lymphoma, Small Noncleaved-Cell
Burkitt Tumour	Diffuse Small Noncleaved Malignant Burkitt Lymphoma
Malignant Burkitt Lymphoma	“Burkitt-Like” Lymphoma
Undifferentiated Burkitt Lymphoma	Small Noncleaved Cell Burkitt Lymphoma

Candidiasis

Systemic Candidiasis	Invasive Candidiasis
Disseminated Candidiasis	Systemic Candida Infections
Candidiasis, Invasive

Limbic Encephalitis

Meningoencephalitis

Acquired Toxoplasmal Meningoencephalitis	Meningoencephalitis Due To Acquired Toxoplasmosis
Meningoencephalitis Due To Toxoplasmosis	Toxoplasma Meningoencephalitis

Ras-Associated Autoimmune Leukoproliferative Disorder

RALD	Autoimmune Lymphoproliferative Syndrome Type 4
Alps4	Autoimmune Lymphoproliferative Syndrome, Type Iv
Ras-Associated Autoimmune Leukoproliferative Disease	Ras-Associated Autoimmune Lymphoproliferative Syndrome Type Iv, Somatic
Alps Type 4	Alps Type Iv
Autoimmune Lymphoproliferative Syndrome Type Iv	Autoimmune Lymphoproliferative Syndrome 4

Familial Hemophagocytic Lymphohistiocytosis 5

Fhl5	Hlh5
Hplh5	Lymphohistiocytosis, Hemophagocytic, Familial, Type 5

Immune Deficiency Disease

Immunodeficiency	Primary Immunodeficiency
Primary Immunodeficiency Disease	Immunologic Deficiency Syndromes
Hypoimmunity	Immune Deficiency Disorder
Immunodeficiency Syndrome	Immune Disorder
Primary Immune Deficiency Disorder	Immune System Diseases
Human Immunodeficiency Virus Infection	Hiv - [Human Immunodeficiency Virus Infection]
Hiv Positive Nos	Hiv Disease
Acquired Immune Deficiency Syndrome-Related Complex	Aids-Like Syndrome
Aids-Related Complex Nos	Arc - [Aids-Related Complex]
Immunodeficiency Due To Human Immunodeficiency Virus Infection	Unspecified Human Immunodeficiency Virus Disease
Hiv Disease Nos	Human Immunodeficiency Virus Positive Nos
Hiv Nos	Deficiency Of Complement Initial Pathway
Deficiency Of Complement Terminal Pathway	Cfdd - [Complement Factor D Deficiency]
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency	Nonfamilial Hypogammaglobulinaemia
Common Variable Immune Deficiency	Nonfamilial Agammaglobulinaemia
Common Variable Agammaglobulinaemia	Agammaglobulinaemia Nos
Agammaglobulinaemia Antibody Deficiency Syndrome	Hypogammaglobulinaemia Antibody Deficiency Syndrome
Acquired Agammaglobulinaemia Nos	Hypogammaglobulinaemia Nos
Hyper Igm

Cd40 Ligand Deficiency

X-Linked Hyper Igm Syndrome	Hyperimmunoglobulin M Syndrome
Higm1	Hyper-Igm Syndrome Type 1
X-Linked Hyper-Igm Syndrome	Xhigm
Higmx-1	X-Linked Hyper-Igm Immunodeficiency
Hyper-Igm Syndrome 1	Immunodeficiency With Hyper-Igm, Type 1
Hyper-Igm Syndrome Due To Cd40 Ligand Deficiency	Hyper-Igm Syndrome Due To Cd40l Deficiency
Hyper-Igm Immunodeficiency Syndrome	Hyper-Igm Immunodeficiency Syndrome, Type 1

Pancytopenia

Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia

XMEN	X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia
X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection And Neoplasia
Cid Due To Magt1 Deficiency	Combined Immunodeficiency Due To Magt1 Deficiency
X-Linked Immunodeficiency With Magnesium Defect, Epstein-Barr Virus Infection An	X-Linked Magnesium Deficiency With Epstein-Barr Virus Infection And Neoplasia

Lymphoproliferative Syndrome 2

Cd27 Deficiency	LPFS2
Combined Immunodeficiency Due To Cd27 Deficiency	Autosomal Recessive Lymphoproliferative Disease Due To Cd27 Deficiency

Cd3zeta Deficiency

Vasculitis

Angiitis	Autoimmune Vasculitis
Systemic Vasculitis	Vasculitis, Autoimmune

Hemophagocytic Lymphohistiocytosis, Familial, 2

Familial Hemophagocytic Lymphohistiocytosis 2	FHL2
Hplh2	Hlh2
Hemophagocytic Lymphohistiocytosis, Familial, 2, Susceptibility To	Lymphohistiocytosis, Hemophagocytic, Familial, Type 2

Immunodeficiency 14

Activated Pi3k-Delta Syndrome	Apds
Pasli Disease	Imd14
Senescent T-Cells-Lymphadenopathy-Immunodeficiency Syndrome Due To P110delta-Activating Mutation	P110 Delta-Activating Mutation Causing Senescent T Cells, Lymphadenopathy, And Immunodeficiency

Hemophagocytic Lymphohistiocytosis, Familial, 3

Familial Hemophagocytic Lymphohistiocytosis 3	FHL3
Hplh3	Hlh3
Lymphohistiocytosis, Hemophagocytic, Familial, Type 3

Griscelli Syndrome

Chediak-Higashi-Like Syndrome	Griscelli-Prunieras Syndrome
Partial Albinism-Immunodeficiency Syndrome	Griscelli Disease
Gs	Hypopigmentation Immunodeficiency Disease
Partial Albinism With Immunodeficiency	Immunodeficiency Syndrome With Hypopigmentation
Hypopigmentation-Immunodeficiency Disease

Griscelli Syndrome, Type 2

Griscelli Syndrome Type 2	GS2
Griscelli Syndrome With Hemophagocytic Syndrome	Partial Albinism And Immunodeficiency Syndrome
Paid Syndrome	Hypopigmentation-Immunodeficiency With Or Without Neurologic Impairment Syndrome
Griscelli-Prunieras Syndrome Type 2	Griscelli-Pruniéras Syndrome Type 2
Griscelli Syndrome 2

Rheumatoid Arthritis

RA	Arthritis, Rheumatoid
Rheumatoid Arthritis, Susceptibility To	Arthritis Or Polyarthritis, Rheumatic
Atrophic Arthritis	Rheumatism Arthritis
Rheumatoid Polyarthritis

Immunodeficiency 7

Tcr-Alpha-Beta-Positive T-Cell Deficiency	IMD7
T-Cell Receptor-Alpha/Beta Deficiency	Immunodeficiency 7, Tcr-Alpha/Beta Deficient
Tcr-Alpha/Beta Deficiency	Tcr-Alpha-Beta+ T-Cell Deficiency
T-Cell Receptor Alpha/Beta Deficiency

B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency	B Cell Deficiencies
Immunoglobulin Heavy Chain Deletion	Humoral Immune Defect

Arthritis

Inflammatory Joint Disease

Inflammatory Disorder Of Joint

Lymphoma, Hodgkin, Classic

Hodgkin Lymphoma	Hodgkin Disease
Hodgkin'S Lymphoma	Hodgkins Lymphoma
Classic Hodgkin Lymphoma	CHL
Hodgkin Lymphoma, Susceptibility To	Hl
Hodgkin'S Sarcoma	Stage I Subdiaphragmatic Hodgkin Lymphoma
Stage Ii Subdiaphragmatic Hodgkin Lymphoma	Lymphoma, Hodgkin'S
Classic Hodgkin Disease	Hodgkin'S Disease
Lymphoma, Hodgkin, Susceptibility To	Hodgkin'S Disease Of Intrapelvic Lymph Nodes
Hodgkin'S Disease Of Lymph Nodes Of Inguinal Region And/Or Lower Limb	Malignant Lymphogranuloma
Malignant Lymphogranulomatosis	Malignant Hodgkin Lymphoma
Classical Hodgkin Lymphoma, Type Not Specified

Chediak-Higashi Syndrome

CHS	Chédiak-Higashi Syndrome
Chediak - Steinbrinck Anomaly	Chediak Higashi Syndrome
Chediak-Steinbrinck-Higashi Syndrome	Oculocutaneous Albinism With Leukocyte Defect
Chediak-Higashi Disease	Chediak-Higashi-Steinbrink Syndrome

Systemic Epstein-Barr Virus Positive T-Cell Lymphoma Of Childhood

Ebv-Positive T-Cell Lymphoproliferative Disorder Of Childhood	Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma Of Childhood
Systemic Ebv-Positive T-Cell Lymphoma Of Childhood	Systemic Ebv+ T-Cell Lymphoma Of Childhood

Aplastic Anemia

Aplastic Anemia, Susceptibility To	Anemia Aplastic
Idiopathic Aplastic Anemia	Secondary Aplastic Anemia
Idiopathic Bone Marrow Failure	Aplastic Anemia Idiopathic
AA	Anemia, Aplastic
Aplastic Anemia, Idiopathic	Erythroid Aplasia
Aa - [Aplastic Anaemia]	Haematopoietic Aplasia
Aleukia Haemorrhagica	Anaemia Due To Decreased Red Cell Production
Aplasia Bone Marrow	Aplastic Bone Marrow
Hypoplastic Anaemia Nos	Myeloid Bone Marrow Aplasia
Pancytopenia	Panhaematopenia
Hypoproliferative Anaemia	Medullary Hypoplasia
Red Blood Cells Hypoplastic Anaemia	Panmyelophthisis
Panhemocytopenia	Refractive Hypoproliferative Anaemia
Toxic Anaemia	Toxic Aplastic Anaemia
Aplastic Anaemia Due To Toxic Cause	Idiopathic Aplastic Anaemia Nos

Acute Hemorrhagic Encephalitis

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma	Lymphoma, Non-Hodgkin
NHL	Lymphoma, Non-Hodgkin, Somatic
Lymphoma, Follicular, Somatic	Familial Non-Hodgkin Lymphoma
Lymphoma Non-Hodgkins	Follicular Lymphoma, Somatic
Lymphosarcoma	Non-Hodgkins Lymphoma

Autoimmune Lymphoproliferative Syndrome

ALPS	Canale-Smith Syndrome
Autoimmune Lymphoproliferative Syndrome, Type Ia	Autoimmune Lymphoproliferative Syndrome, Type Ib
Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant	Css
Autoimmune Lymphoproliferative Syndrome, Type 1b	Autoimmune Lymphoproliferative Syndrome, Type 1a
Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant	Fas Deficiency
Autoimmune Lymphoproliferative Syndrome 1a	ALPS1A
Autoimmune Lymphoproliferative Syndrome Type Ia	Autoimmune Lymphoproliferative Syndrome 1b
ALPS1B	Autoimmune Lymphoproliferative Syndrome Type Ib

Hermansky-Pudlak Syndrome

Hps	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
Hermanski-Pudlak Syndrome	Hermansky Pudlak Syndrome
Platelet Storage Pool Deficiency

Epidermodysplasia Verruciformis 1

Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis, Susceptibility To, 1
Lutz-Lewandowsky Epidermodysplasia Verruciformis	EV1
Lewandowsky-Lutz Syndrome	Ev

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12821	SH2D1A Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SH2D1A	MGD	MGI:1328352
Bos taurus	SH2D1A	VGNC	VGNC:56954
Canis familiaris	SH2D1A	VGNC	VGNC:54598
Rattus norvegicus	SH2D1A	RGD	RGD:1562408
Felis catus	SH2D1A	VGNC	VGNC:65091
Macaca mulatta	SH2D1A	VGNC	VGNC:97828
Others	SH2D1A	NCBI