Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10320
Gene name Gene Name - the full gene name approved by the HGNC.
IKAROS family zinc finger 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IKZF1
Synonyms (NCBI Gene) Gene synonyms aliases
CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1, PPP1R92, PRO0758, ZNFN1A1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CVID13
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p12.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs374333820 A>G Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs530073586 C>A,T Pathogenic Intron variant, stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs770551610 G>A,T Pathogenic Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs778820674 G>A Likely-pathogenic Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs869312883 A>G Pathogenic Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT029793 hsa-miR-26b-5p Microarray 19088304
MIRT170951 hsa-miR-19a-3p HITS-CLIP 22473208
MIRT170952 hsa-miR-19b-3p HITS-CLIP 22473208
MIRT1063091 hsa-miR-1263 CLIP-seq
MIRT1063092 hsa-miR-4291 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0003677 Function DNA binding IDA 21548011, 22106042
GO:0003700 Function DNA-binding transcription factor activity IBA 21873635
GO:0005515 Function Protein binding IPI 15491138, 21516116, 25416956, 29892012, 31515488
GO:0005634 Component Nucleus IDA 21548011, 22106042
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603023 13176 ENSG00000185811
Protein
UniProt ID Q13422
Protein name DNA-binding protein Ikaros (Ikaros family zinc finger protein 1) (Lymphoid transcription factor LyF-1)
Protein function Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delt
PDB 6H0F , 8D7Z , 8D80 , 8RQC , 8TNP , 8TNQ , 8TNR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 145 167 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 173 195 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 201 224 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine. {ECO:0000269|PubMed:8543809, ECO:0000269|PubMed:8964602}.
Sequence
MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVE
TQSDEENGRACEMNGEECAEDLRMLDASGEKMNGSHRDQGSSALSGVGGIRLPNGKLKCD
ICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY
ACRRRDALTGHLRTH
SVGKPHKCGYCGRSYKQRSSLEEHKERCHNYLESMGLPGTLYPVI
KEETNHSEMAEDLCKIGSERSLVLDRLASNVAKRKSSMPQKFLGDKGLSDTPYDSSASYE
KENEMMKSHVMDQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPR
SNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIYLTNHIAP
HARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIH
MGCHGFRDPFECNMCGYHSQDRYEFSSHITRGEHRFHMS
Sequence length 519
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Burkitt`s lymphoma Burkitt Lymphoma rs28933407, rs121918683, rs121918684 19129520, 18408710, 23751147, 19770381
Common variable immunodeficiency Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, IMMUNODEFICIENCY, COMMON VARIABLE, 13 rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113
View all (35 more)
26981933, 21548011
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
25751624
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction ClinVar
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Pancreatitis Pancreatitis ClinVar
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
22q11 Deletion Syndrome Associate 34410295
Adenocarcinoma Associate 38644767
Adenocarcinoma of Lung Associate 32787735
Anemia Associate 17934067, 32845957, 37833543
Anemia Diamond Blackfan Associate 34162668
Arthritis Psoriatic Inhibit 33568645
Arthritis Rheumatoid Inhibit 33568645, 35883614
Arthritis Rheumatoid Associate 40048636
Ataxia Telangiectasia Associate 34980595
Autoimmune Diseases Associate 28552951, 33031316