SH2D1A - SH2 domain containing 1A Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4068

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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

SH2: SH2 domain (7 - 86)

  • 0
  • 100
  • 128 a.a.
Protein Preferred Names Protein Names

SH2 domain-containing protein 1A

  • Duncan disease SH2-protein

SH2D1A Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SH2D1A O60880 MET Homo sapiens P08581
FPS
24728074
Intra
SH2D1A O60880 CD247 Homo sapiens P20963 22912825
Intra
SH2D1A O60880 TNK2 Homo sapiens Q07912-2 25910212
Intra
SH2D1A O60880 TNK2 Homo sapiens Q07912-2 25910212
Intra
SH2D1A O60880 TNK2 Homo sapiens Q07912-2 25910212
Intra
SH2D1A O60880 LHX3 Homo sapiens Q9UBR4-2 32296183
Intra
SH2D1A O60880 LHX3 Homo sapiens Q9UBR4-2 32296183
Intra
SH2D1A O60880 LHX3 Homo sapiens Q9UBR4-2 32296183
Intra
SH2D1A O60880 SLAMF6 Homo sapiens Q96DU3 16920955
Intra
SH2D1A O60880 SLAMF6 Homo sapiens Q96DU3 24688028
Intra
SH2D1A O60880 SLAMF6 Homo sapiens Q96DU3 22912825
Intra
SH2D1A O60880 CD244 Homo sapiens Q9BZW8 23346089
Intra
SH2D1A O60880 CD244 Homo sapiens Q9BZW8 16920955
Intra
SH2D1A O60880 LHX4 Homo sapiens Q969G2 25910212
Intra
SH2D1A O60880 LHX4 Homo sapiens Q969G2 25910212
Intra
SH2D1A O60880 LHX4 Homo sapiens Q969G2 25910212
Intra
SH2D1A O60880 LHX4 Homo sapiens Q969G2 25416956
Intra
SH2D1A O60880 LHX4 Homo sapiens Q969G2 25416956
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291
FPS
10607564
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291
FPS
14674764
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291
Y2H
9774102
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291 10549287
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291 11806999
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291 11477068
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291
Y2H
11389028
Intra
SH2D1A O60880 SLAMF1 Homo sapiens Q13291
NMR
12225753
Intra
SH2D1A O60880 TNK2 Homo sapiens Q07912 25416956
Intra
SH2D1A O60880 TNK2 Homo sapiens Q07912 25416956
Intra
SH2D1A O60880 SRC Homo sapiens P12931 32814053
Intra
SH2D1A O60880 SRC Homo sapiens P12931 32814053
Intra
SH2D1A O60880 SRC Homo sapiens P12931 32814053
Intra
SH2D1A O60880 DDIT4L Homo sapiens Q96D03 32296183
Intra
SH2D1A O60880 DDIT4L Homo sapiens Q96D03 32296183
Intra
SH2D1A O60880 DDIT4L Homo sapiens Q96D03 32296183
Intra
SH2D1A O60880 FOS Homo sapiens P01100 32814053
Intra
SH2D1A O60880 FOS Homo sapiens P01100 32814053
Intra
SH2D1A O60880 FOS Homo sapiens P01100 32814053
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant SH2D1A Proteins

Cat. No. Product Name Accession Purity
HY-P71038 SH2D1A Protein, Human (His) O60880 (M1-P128) ≥ 95%, as determined by reducing SDS-PAGE.

SH2D1A Antibodies

Cat. No. Product Name Application Reactivity
HY-P82205 SH2D1A Antibody (YA1950) WB Human, Mouse, Rat
HY-P82205A SH2D1A Antibody (YA1950)(PBS only) WB Human, Mouse, Rat

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

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

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