ZFAT (zinc finger and AT-hook domain containing)

Gene

• Entrez ID: 57623
• Gene name: Zinc finger and AT-hook domain containing
• Gene symbol: ZFAT
• Synonyms (NCBI Gene): AITD3, ZFAT1, ZNF406
• 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

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
MIRT1509759	hsa-miR-4676-3p	CLIP-seq
MIRT1509760	hsa-miR-873	CLIP-seq
MIRT1509761	hsa-miR-1207-5p	CLIP-seq
MIRT1509762	hsa-miR-1226	CLIP-seq
MIRT1509763	hsa-miR-1229	CLIP-seq
MIRT1509764	hsa-miR-1245b-3p	CLIP-seq
MIRT1509765	hsa-miR-1321	CLIP-seq
MIRT1509757	hsa-miR-1324	CLIP-seq
MIRT1509766	hsa-miR-153	CLIP-seq
MIRT1509767	hsa-miR-217	CLIP-seq
MIRT1509768	hsa-miR-29a	CLIP-seq
MIRT1509769	hsa-miR-29b	CLIP-seq
MIRT1509770	hsa-miR-29c	CLIP-seq
MIRT1509771	hsa-miR-3616-3p	CLIP-seq
MIRT1509772	hsa-miR-3663-3p	CLIP-seq
MIRT1509773	hsa-miR-3678-3p	CLIP-seq
MIRT1509774	hsa-miR-4270	CLIP-seq
MIRT1509775	hsa-miR-4287	CLIP-seq
MIRT1509776	hsa-miR-4321	CLIP-seq
MIRT1509777	hsa-miR-4428	CLIP-seq
MIRT1509778	hsa-miR-4441	CLIP-seq
MIRT1509779	hsa-miR-4469	CLIP-seq
MIRT1509780	hsa-miR-4494	CLIP-seq
MIRT1509758	hsa-miR-452	CLIP-seq
MIRT1509759	hsa-miR-4676-3p	CLIP-seq
MIRT1509781	hsa-miR-4685-3p	CLIP-seq
MIRT1509782	hsa-miR-4728-5p	CLIP-seq
MIRT1509783	hsa-miR-4733-3p	CLIP-seq
MIRT1509784	hsa-miR-4739	CLIP-seq
MIRT1509785	hsa-miR-4756-5p	CLIP-seq
MIRT1509786	hsa-miR-4763-3p	CLIP-seq
MIRT1509787	hsa-miR-642a	CLIP-seq
MIRT1509788	hsa-miR-767-5p	CLIP-seq
MIRT1509760	hsa-miR-873	CLIP-seq
MIRT1509789	hsa-miR-137	CLIP-seq
MIRT1509790	hsa-miR-138	CLIP-seq
MIRT1509791	hsa-miR-4299	CLIP-seq
MIRT1509792	hsa-miR-4728-3p	CLIP-seq
MIRT1509793	hsa-miR-628-5p	CLIP-seq
MIRT1509761	hsa-miR-1207-5p	CLIP-seq
MIRT2153544	hsa-miR-1264	CLIP-seq
MIRT1509765	hsa-miR-1321	CLIP-seq
MIRT1509768	hsa-miR-29a	CLIP-seq
MIRT1509769	hsa-miR-29b	CLIP-seq
MIRT1509770	hsa-miR-29c	CLIP-seq
MIRT2153545	hsa-miR-3117-5p	CLIP-seq
MIRT1509771	hsa-miR-3616-3p	CLIP-seq
MIRT1509772	hsa-miR-3663-3p	CLIP-seq
MIRT1509774	hsa-miR-4270	CLIP-seq
MIRT1509777	hsa-miR-4428	CLIP-seq
MIRT1509778	hsa-miR-4441	CLIP-seq
MIRT1509792	hsa-miR-4728-3p	CLIP-seq
MIRT1509782	hsa-miR-4728-5p	CLIP-seq
MIRT1509784	hsa-miR-4739	CLIP-seq
MIRT1509785	hsa-miR-4756-5p	CLIP-seq
MIRT1509786	hsa-miR-4763-3p	CLIP-seq
MIRT1509788	hsa-miR-767-5p	CLIP-seq
MIRT1509760	hsa-miR-873	CLIP-seq
MIRT1509762	hsa-miR-1226	CLIP-seq
MIRT1509763	hsa-miR-1229	CLIP-seq
MIRT2153544	hsa-miR-1264	CLIP-seq
MIRT1509766	hsa-miR-153	CLIP-seq
MIRT1509767	hsa-miR-217	CLIP-seq
MIRT2153545	hsa-miR-3117-5p	CLIP-seq
MIRT1509771	hsa-miR-3616-3p	CLIP-seq
MIRT1509775	hsa-miR-4287	CLIP-seq
MIRT1509779	hsa-miR-4469	CLIP-seq
MIRT1509780	hsa-miR-4494	CLIP-seq
MIRT2373850	hsa-miR-4501	CLIP-seq
MIRT1509781	hsa-miR-4685-3p	CLIP-seq
MIRT1509783	hsa-miR-4733-3p	CLIP-seq
MIRT1509787	hsa-miR-642a	CLIP-seq
MIRT2695667	hsa-miR-127-5p	CLIP-seq
MIRT2695668	hsa-miR-3936	CLIP-seq
MIRT2695669	hsa-miR-4635	CLIP-seq
MIRT2695670	hsa-miR-493	CLIP-seq

Gene ontology (GO)

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
GO:0005515	Function	Protein binding	IPI	36162510
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0030097	Process	Hemopoiesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 610931
• HGNC: 19899
• e!Ensembl: 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
  CPQCSYASAIKANLNVHLRKHTGEKFACDYCSFTCLSKGHLKVHIERVHKKIKQHCRFCK
  KKYSDVKNLIKHIRDAHDPQDKKVKEALDELCLMTREGKRQLLYDCHICERKFKNELDRD
  RHMLVHGDKWPFACELCGHGATKYQALELHVRKHPFVYVCAVCRKKFVSSIRLRTHIKEV
  HGAAQEALVFTSSINQSFCLLEPGGDIQQEALGDQLQLVEEEFALQGVNALKEEACPGDT
  QLEEGRKEPEAPGEMPAPAVHLASPQAESTALPPCELETTVVSSSDLHSQEVVSDDFLLK
  NDTSSAEAHAAPEKPPDMQHRSSVQTQGEVITLLLSKAQSAGSDQESHGAQSPLGEGQNM
  AVLSAGDPDPSRCLRSNPAEASDLLPPVAGGGDTITHQPDSCKAAPEHRSGITAFMKVLN
  SLQKKQMNTSLCERIRKVYGDLECEYCGKLFWYQVHFDMHVRTHTREHLYYCSQCHYSSI
  TKNCLKRHVIQKHSNILLKCPTDGCDYSTPDKYKLQAHLKVHTALDKRSYSCPVCEKSFS
  EDRLIKSHIKTNHPEVSMSTISEVLGRRVQLKGLIGKRAMKCPYCDFYFMKNGSDLQRHI
  WAHEGVKPFKCSLCEYATRSKSNLKAHMNRHSTEKTHLCDMCGKKFKSKGTLKSHKLLHT
  ADGKQFKCTVCDYTAAQKPQLLRHMEQHVSFKPFRCAHCHYSCNISGSLKRHYNRKHPNE
  EYANVGTGELAAEVLIQQGGLKCPVCSFVYGTKWEFNRHLKNKHGLKVVEIDGDPKWETA
  TEAPEEPSTQYLHITEAEEDVQGTQAAVAALQDLRYTSESGDRLDPTAVNILQQIIELGA
  ETHDATALASVVAMAPGTVTVVKQVTEEEPSSNHTVMIQETVQQASVELAEQHHLVVSSD
  DVEGIETVTVYTQGGEASEFIVYVQEAMQPVEEQAVEQPAQEL

• Sequence length: 1243

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune thyroid disease, susceptibility to, 3	risk factor; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROIDITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPITUITARISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROIDITIS, AUTOIMMUNE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	30153862	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28627089		★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	BEFREE	28627089		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	34382870	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	22706687		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	BEFREE	22706687		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	21626137	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASDB_DG	21626137		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	19584924	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27572828		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	27572828	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	GWASDB_DG	22105264		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic organ prolapse	Pubtator	22105264, 30153862	Associate	★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	BEFREE	31270553		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	LHGDN	15294872		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid Diseases	BEFREE	28627089		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	30153862	Associate	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	28627089		★☆☆☆☆ Found in Text Mining only