Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
22806
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
IKAROS family zinc finger 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
IKZF3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
AIO, AIOLOS, IMD84, ZNFN1A3 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
IMD84 |
Chromosome
Chromosome number
|
17 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
17q12-q21.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene prod |
UniProt ID |
Q9UKT9
|
Protein name |
Zinc finger protein Aiolos (Ikaros family zinc finger protein 3) |
Protein function |
Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 ex |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00096
|
zf-C2H2 |
146 → 168 |
Zinc finger, C2H2 type |
Domain |
PF00096
|
zf-C2H2 |
202 → 223 |
Zinc finger, C2H2 type |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed most strongly in peripheral blood leukocytes, the spleen, and the thymus. {ECO:0000269|PubMed:17646674}. |
Sequence |
MEDIQTNAELKSTQEQSVPAESAAVLNDYSLTKSHEMENVDSGEGPANEDEDIGDDSMKV KDEYSERDENVLKSEPMGNAEEPEIPYSYSREYNEYENIKLERHVVSFDSSRPTSGKMNC DVCGLSCISFNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHTGEKPFKCHLCN YACQRRDALTGHLRTHSVEKPYKCEFCGRSYKQRSSLEEHKERCRTFLQSTDPGDTASAE ARHIKAEMGSERALVLDRLASNVAKRKSSMPQKFIGEKRHCFDVNYNSSYMYEKESELIQ TRMMDQAINNAISYLGAEALRPLVQTPPAPTSEMVPVISSMYPIALTRAEMSNGAPQELE KKSIHLPEKSVPSERGLSPNNSGHDSTDTDSNHEERQNHIYQQNHMVLSRARNGMPLLKE VPRSYELLKPPPICPRDSVKVINKEGEVMDVYRCDHCRVLFLDYVMFTIHMGCHGFRDPF ECNMCGYRSHDRYEFSSHIARGEHRALLK
|
|
Sequence length |
509 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Dermatitis |
Dermatitis, Atopic |
rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174 |
26542096 |
Esophagus neoplasm |
Esophageal Neoplasms |
rs28934578, rs121918714, rs1567556006, rs1575166666 |
22960999 |
Immunoglobulin a deficiency |
Immunoglobulin A deficiency (disorder) |
rs72553883, rs72553882, rs144718007 |
27723758 |
Lymphoblastic leukemia |
Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor Cell Lymphoblastic Leukemia Lymphoma |
rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591 View all (13 more) |
23334668 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs587776843 |
23143596 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Asthma |
Asthma, Childhood asthma |
|
24388013, 25256354, 24406073, 30787307, 28461288, 20860503, 21804549, 26542096, 17611496 |
ClinVar, GWAS |
Immunodeficiency |
immunodeficiency 84 |
|
|
GenCC |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Biliary Cholangitis |
Biliary Cholangitis |
|
|
GWAS |
Biliary Cirrhosis |
Biliary Cirrhosis |
|
|
GWAS |
Inflammatory Bowel Disease |
Inflammatory Bowel Disease |
|
|
GWAS |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
Myasthenia Gravis |
Myasthenia Gravis |
|
|
GWAS |
Polycystic Ovary Syndrome |
Polycystic Ovary Syndrome |
|
|
GWAS |
Ulcerative colitis |
Ulcerative colitis |
|
|
GWAS |
Crohn Disease |
Crohn Disease |
|
|
GWAS |
Hypothyroidism |
Hypothyroidism |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Associate
|
16849520 |
Adenocarcinoma Of Esophagus |
Associate
|
16849520 |
Agammaglobulinemia |
Associate
|
38015619 |
Arthritis Rheumatoid |
Stimulate
|
29193869 |
Arthritis Rheumatoid |
Inhibit
|
35883614 |
Asthma |
Associate
|
21985515, 23154084, 24406073, 28241063, 28668238, 32078577, 36967681, 38494094, 40105091 |
Atherosclerosis |
Associate
|
38193570 |
Autoimmune Diseases |
Associate
|
38015619 |
Breast Neoplasms |
Associate
|
21247443 |
Breast Neoplasms Male |
Associate
|
25906114 |
Chronobiology Disorders |
Associate
|
38015619 |
Colorectal Neoplasms |
Associate
|
29955133 |
Delayed Cranial Ossification due to CBFB Haploinsufficiency |
Associate
|
38015619 |
Diabetes Mellitus |
Associate
|
38193570 |
Diabetes Mellitus Type 1 |
Associate
|
25170024, 29343548, 31558544 |
Drug Hypersensitivity |
Associate
|
38015619 |
Drug Related Side Effects and Adverse Reactions |
Stimulate
|
32591583 |
Fibrosis |
Associate
|
35903097 |
Graves Disease |
Associate
|
29510406, 35509980 |
Immune System Diseases |
Associate
|
25271777, 38015619 |
Immunologic Deficiency Syndromes |
Associate
|
34920454 |
Inflammation |
Stimulate
|
26484354 |
Leukemia |
Associate
|
11745366, 17296582, 21247443, 31487824, 38018448 |
Leukemia Lymphocytic Chronic B Cell |
Associate
|
18184862, 21139082, 36287107 |
Leukemia Prolymphocytic T Cell |
Associate
|
26466571, 28584254 |
Liver Cirrhosis |
Associate
|
35903097 |
Liver Cirrhosis Biliary |
Associate
|
23000144, 25690649, 28588209 |
Lung Neoplasms |
Associate
|
24823631, 24823637, 31251838 |
Lupus Erythematosus Systemic |
Associate
|
22464253, 25271777, 29437559, 29945920, 33727237 |
Lymphoma B Cell |
Associate
|
30087459 |
Lymphoma Follicular |
Associate
|
11745366 |
Melanoma Cutaneous Malignant |
Associate
|
37401304 |
Metabolic Syndrome |
Associate
|
38193570 |
Multiple Myeloma |
Associate
|
24292625, 26269456, 26430725, 26823144, 27881177, 28643330, 29729093, 30228232, 30234487, 30696815, 30760870, 32591583, 33547076, 36196173, 37934799, 39704419 View all (1 more) |
Multiple Sclerosis |
Associate
|
27080863 |
Multiple Sclerosis Relapsing Remitting |
Associate
|
34385287 |
Neoplasm Metastasis |
Associate
|
31251838 |
Neoplasms |
Associate
|
18206652, 21247443, 24823637, 25869284, 26466571, 31251838, 33205076, 34583995, 37596276 |
Neoplasms Squamous Cell |
Associate
|
33687433 |
Periodontitis |
Associate
|
27302879 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
38018448 |
Precursor T Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
12028018 |
Respiratory Sounds |
Associate
|
23154084, 36967681 |
Scleroderma Systemic |
Associate
|
32977850 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
36930079 |
Status Asthmaticus |
Associate
|
25256354 |
Thyroiditis Autoimmune |
Associate
|
29510406 |
Urinary Bladder Neoplasms |
Associate
|
36211821 |
Uterine Cervical Neoplasms |
Associate
|
39206965 |
|