Gene Gene information from NCBI Gene database.
Entrez ID 57623
Gene name Zinc finger and AT-hook domain containing
Gene symbol ZFAT
Synonyms (NCBI Gene)
AITD3ZFAT1ZNF406
Chromosome 8
Chromosome location 8q24.22
Summary 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.
81
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
GO:0002244 Process Hematopoietic progenitor cell differentiation IEA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610931 19899 ENSG00000066827
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs75824083 RCV005913514
Autoimmune thyroid disease, susceptibility to, 3 risk factor; Uncertain significance rs16905194, rs1428157950, rs2488654636 RCV000001139
RCV002272659
RCV003988761
Cervical cancer Benign rs75824083 RCV005913515
Melanoma Uncertain significance rs192292042 RCV005929020
Associations from Text MiningDisease associations identified through Pubtator
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