Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57623
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger and AT-hook domain containing
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZFAT
Synonyms (NCBI Gene) Gene synonyms aliases
AITD3, ZFAT1, ZNF406
Disease Acronyms (UniProt) Disease acronyms from UniProt database
AITD3
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q24.22
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein that likely binds DNA and functions as a transcriptional regulator involved in apoptosis and cell survival. This gene resides in a susceptibility locus for autoimmune thyroid disease (AITD) on chromosome 8q24. Alternative splic
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT047133 hsa-miR-183-5p CLASH 23622248
MIRT439238 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439238 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1509757 hsa-miR-1324 CLIP-seq
MIRT1509758 hsa-miR-452 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:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610931 19899 ENSG00000066827
Protein
UniProt ID Q9P243
Protein name Zinc finger protein ZFAT (Zinc finger gene in AITD susceptibility region) (Zinc finger protein 406)
Protein function May be involved in transcriptional regulation. Overexpression causes down-regulation of a number of genes involved in the immune response. Some genes are also up-regulated (By similarity).
PDB 2ELM , 2ELN , 2ELO , 2ELP , 2ELQ , 2ELR , 2ELS , 2ELT , 2ELU , 2ELV , 2RSH , 2RSI , 2RSJ , 2RUT , 2RUU , 2RUV , 2RUW , 2RUX , 2RUY , 2RUZ , 2RV0 , 2RV1 , 2RV2 , 2RV3 , 2RV6 , 2RV7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 271 293 Zinc finger, C2H2 type Domain
PF13909 zf-H2C2_5 299 323 Domain
PF00096 zf-C2H2 909 931 Zinc finger, C2H2 type Domain
PF13909 zf-H2C2_5 966 989 Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is strongly expressed in placenta, spleen, kidney, testis and peripheral blood leukocytes. Expressed in CD4+ and CD8+ T-cells, CD19+ B-cells and CB14+ monocytes. Isoform 3 is strongly expressed in placenta, ovary, tonsil, CD1
Sequence
METRAAENTAIFMCKCCNLFSPNQSELLSHVSEKHMEEGVNVDEIIIPLRPLSTPEPPNS
SKTGDEFLVMKRKRGRPKGSTKKSSTEEELAENIVSPTEDSPLAPEEGNSLPPSSLECSK
CCRKFSNTRQLRKHICIIVLNLGEEEGEAGNESDLELEKKCKEDDREKASKRPRSQKTEK
VQKISGKEARQLSGAKKPIISVVLTAHEAIPGATKIVPVEAGPPETGATNSETTSADLVP
RRGYQEYAIQQTPYEQPMKSSRLGPTQLKIFTCEYCNKVFKFKHSLQAHLRIHTNEKPYK
CPQCSYASAIKANLNVHLRKHTG
EKFACDYCSFTCLSKGHLKVHIERVHKKIKQHCRFCK
KKYSDVKNLIKHIRDAHDPQDKKVKEALDELCLMTREGKRQLLYDCHICERKFKNELDRD
RHMLVHGDKWPFACELCGHGATKYQALELHVRKHPFVYVCAVCRKKFVSSIRLRTHIKEV
HGAAQEALVFTSSINQSFCLLEPGGDIQQEALGDQLQLVEEEFALQGVNALKEEACPGDT
QLEEGRKEPEAPGEMPAPAVHLASPQAESTALPPCELETTVVSSSDLHSQEVVSDDFLLK
NDTSSAEAHAAPEKPPDMQHRSSVQTQGEVITLLLSKAQSAGSDQESHGAQSPLGEGQNM
AVLSAGDPDPSRCLRSNPAEASDLLPPVAGGGDTITHQPDSCKAAPEHRSGITAFMKVLN
SLQKKQMNTSLCERIRKVYGDLECEYCGKLFWYQVHFDMHVRTHTREHLYYCSQCHYSSI
TKNCLKRHVIQKHSNILLKCPTDGCDYSTPDKYKLQAHLKVHTALDKRSYSCPVCEKSFS
EDRLIKSHIKTNHPEVSMSTISEVLGRRVQLKGLIGKRAMKCPYCDFYFMKNGSDLQRHI
WAHEGVKPFKCSLCEYATRSKSNLKAHMNRHSTEKTHLCDMCGKKFKSKGTLKSHKLLHT
ADGKQFKCTVCDYTAAQKPQLLRHMEQHVSFKPFRCAHCHYSCNISGSLKRHYNRKHPNE
EYANVGTGELAAEVLIQQGGLKCPVCSFVYGTKWEFNRHLKNKHGLKVVEIDGDPKWETA
TEAPEEPSTQYLHITEAEEDVQGTQAAVAALQDLRYTSESGDRLDPTAVNILQQIIELGA
ETHDATALASVVAMAPGTVTVVKQVTEEEPSSNHTVMIQETVQQASVELAEQHHLVVSSD
DVEGIETVTVYTQGGEASEFIVYVQEAMQPVEEQAVEQPAQEL
Sequence length 1243
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hypertension Hypertensive disease rs13306026 21626137
Unknown
Disease term Disease name Evidence References Source
Atrial Fibrillation Atrial Fibrillation GWAS
Diabetes Diabetes GWAS
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 30153862
Cleft Palate Associate 34382870
Hypertension Associate 21626137
Medulloblastoma Associate 19584924
Multiple Sclerosis Associate 27572828
Pelvic Organ Prolapse Associate 22105264, 30153862
Thyroiditis Autoimmune Associate 30153862