ZFAT

Summary

ZFAT (zinc finger and AT-hook domain containing, HGNC:19899) is a protein-coding gene on chromosome 8q24.22, encoding Zinc finger protein ZFAT (Q9P243). May be involved in transcriptional regulation.

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 splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 57623 — RefSeq curated summary.

At a glance

• GWAS associations: 60
• Clinical variants (ClinVar): 170 total
• Phenotypes (HPO): 1
• MANE Select transcript: NM_020863

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19899
Approved symbol	ZFAT
Name	zinc finger and AT-hook domain containing
Location	8q24.22
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1485
Ensembl gene	ENSG00000066827
Ensembl biotype	protein_coding
OMIM	610931
Entrez	57623

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 11 protein_coding, 3 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000377838, ENST00000429442, ENST00000517307, ENST00000518191, ENST00000518408, ENST00000519827, ENST00000520214, ENST00000520356, ENST00000520727, ENST00000521673, ENST00000522257, ENST00000522723, ENST00000522974, ENST00000523040, ENST00000523243, ENST00000523399, ENST00000523924, ENST00000922182, ENST00000969886

RefSeq mRNA: 6 — MANE Select: NM_020863 NM_001029939, NM_001167583, NM_001174157, NM_001174158, NM_001289394, NM_020863

CCDS: CCDS43768, CCDS47924, CCDS55275, CCDS55276

Canonical transcript exons

ENST00000377838 — 16 exons

Exon	Start	End
ENSE00002128386	134477788	134478721
ENSE00003471969	134520883	134521001
ENSE00003496803	134608729	134608879
ENSE00003505735	134657561	134657737
ENSE00003518772	134588246	134588395
ENSE00003527503	134565333	134565421
ENSE00003535061	134637461	134637712
ENSE00003535873	134610470	134610655
ENSE00003537612	134601477	134602933
ENSE00003547853	134590268	134590355
ENSE00003553263	134583832	134584005
ENSE00003553904	134600436	134600668
ENSE00003626090	134532834	134532972
ENSE00003648504	134509619	134509749
ENSE00003654732	134512475	134512601
ENSE00003841474	134712845	134713031

Expression profiles

Bgee: expression breadth ubiquitous, 170 present calls, max score 91.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0498 / max 481.1654, expressed in 1738 samples.

FANTOM5 promoters (18 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95266	5.2546	1724
95267	0.4545	218
95259	0.2469	28
95264	0.2310	9
95258	0.2299	31
95255	0.1905	22
95256	0.0949	14
95252	0.0844	16
95247	0.0651	5
95254	0.0610	25

Top tissues by expression

240 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	91.78	silver quality
placenta	UBERON:0001987	90.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.62	gold quality
mucosa of stomach	UBERON:0001199	85.19	gold quality
upper arm skin	UBERON:0004263	85.15	gold quality
muscle layer of sigmoid colon	UBERON:0035805	85.15	gold quality
bone marrow cell	CL:0002092	84.66	gold quality
gastrocnemius	UBERON:0001388	83.95	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	83.61	gold quality
muscle of leg	UBERON:0001383	83.39	gold quality
apex of heart	UBERON:0002098	83.25	gold quality
lower esophagus muscularis layer	UBERON:0035833	83.24	gold quality
lower esophagus	UBERON:0013473	83.21	gold quality
sural nerve	UBERON:0015488	82.63	gold quality
sperm	CL:0000019	80.73	silver quality
adult mammalian kidney	UBERON:0000082	80.40	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.72	gold quality
left testis	UBERON:0004533	79.65	gold quality
lymph node	UBERON:0000029	79.59	gold quality
tibial artery	UBERON:0007610	79.25	gold quality
popliteal artery	UBERON:0002250	79.24	gold quality
colonic epithelium	UBERON:0000397	79.06	gold quality
right testis	UBERON:0004534	79.03	gold quality
granulocyte	CL:0000094	78.88	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.84	gold quality
cortical plate	UBERON:0005343	78.52	gold quality
esophagus	UBERON:0001043	78.44	gold quality
testis	UBERON:0000473	77.99	gold quality
tonsil	UBERON:0002372	77.89	gold quality
kidney	UBERON:0002113	77.88	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-9067	yes	15.14
E-CURD-122	yes	13.85
E-MTAB-8498	yes	13.68
E-MTAB-9801	yes	6.88
E-ANND-3	yes	6.28
E-MTAB-6678	yes	5.28

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
GATA1	Unknown
TAL1	Unknown
ZFAT-AS1	Unknown

miRNA regulators (miRDB)

40 targeting ZFAT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4455	100.00	65.48	1587
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-12133	99.92	71.82	2006
HSA-MIR-1271-5P	99.91	71.99	1972
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-200A-5P	99.76	69.10	949
HSA-MIR-200B-5P	99.76	69.05	948
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4777-3P	99.15	68.92	626
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421

Literature-anchored findings (GeneRIF, showing 14)

• Polymorphism, Single Nucleotide in ZFAT is associated with autoimmune thyroid disease (PMID:15294872)
• ZFAT protein is a critical regulator involved in apoptosis and cell survival for immune-related cells (PMID:19162026)
• It plays a specific role in differentiation and immunologic stimulation in B and T cells to cause autoimmune thyroid disease and contains AT-hook domain and 18 C2H2-type zin finger domain. (PMID:20453441)
• These results suggest that ZFAT may have critical roles in the capillary-like network formation that is involved in vascular remodeling. (PMID:20645017)
• ZFAT polymorphism was associated with the Hashimoto disease severity but not with its development. (PMID:22706687)
• ZFAT is paternally expressed in the placenta (as ZFAT-AS1, a non-coding antisense RNA)but biallelic in other tissues. (PMID:22894909)
• We describe the structural features of the ZFAT ZFs, including the structural differences on the putative DNA recognition surfaces among the ZFAT ZFs, and the unique interaction mode within the tandem ZFs of ZF4 and ZF5 (PMID:25801860)
• The present study observed, for the first time, that in an Arabian Gulf population, the ZFAT rs733254 polymorphism (T>G) is a genderspecific risk marker for multiple sclerosis. (PMID:27572828)
• Analysis of PTPN22, ZFAT and MYO9B polymorphisms in Turner Syndrome and risk of autoimmune disease. (PMID:28627089)
• Identification of pelvic organ prolapse risk susceptibility gene SNP locus in Xinjiang women. (PMID:31270553)
• Zfat knockdown partially inhibited CD71(-/low)Ter119(-) to CD71(high)Ter119(-) transition of fetal liver erythroid progenitors with impairment in the elevation of CD71 expression. Zfat plays a critical role for erythropoiesis in the fetal liver (PMID:31366551)
• ZFAT binds to centromeres to control noncoding RNA transcription through the KAT2B-H4K8ac-BRD4 axis. (PMID:32997115)
• CENP-B promotes the centromeric localization of ZFAT to control transcription of noncoding RNA. (PMID:34547289)
• Death domain-associated protein DAXX regulates noncoding RNA transcription at the centromere through the transcription regulator ZFAT. (PMID:36162510)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	zfat	ENSDARG00000077987
mus_musculus	Zfat	ENSMUSG00000022335
rattus_norvegicus	Zfat	ENSRNOG00000025140
drosophila_melanogaster	CG10543	FBGN0034570
caenorhabditis_elegans	spr-4	WBGENE00005009

Paralogs (38): ZFX (ENSG00000005889), ZBTB11 (ENSG00000066422), ZFY (ENSG00000067646), ZNF586 (ENSG00000083828), IKZF5 (ENSG00000095574), ZNF419 (ENSG00000105136), ZNF549 (ENSG00000121406), ZSCAN20 (ENSG00000121903), ZNF304 (ENSG00000131845), PRDM15 (ENSG00000141956), ZNF660 (ENSG00000144792), ZNF711 (ENSG00000147180), ZNF773 (ENSG00000152439), ZNF256 (ENSG00000152454), ZNF837 (ENSG00000152475), ZNF691 (ENSG00000164011), ZNF610 (ENSG00000167554), E4F1 (ENSG00000167967), ZNF562 (ENSG00000171466), ZNF561 (ENSG00000171469), ZNF584 (ENSG00000171574), ZIK1 (ENSG00000171649), ZNF570 (ENSG00000171827), ZSCAN2 (ENSG00000176371), ZNF552 (ENSG00000178935), ZNF154 (ENSG00000179909), ZNF792 (ENSG00000180884), ZNF793 (ENSG00000188227), ZNF548 (ENSG00000188785), ZNF79 (ENSG00000196152), ZNF418 (ENSG00000196724), ZNF772 (ENSG00000197128), ZNF583 (ENSG00000198440), ZNF480 (ENSG00000198464), ZNF551 (ENSG00000204519), ZNF134 (ENSG00000213762), ZNF587B (ENSG00000269343), ZNF8 (ENSG00000278129)

Protein

Protein identifiers

Zinc finger protein ZFAT — Q9P243 (reviewed: Q9P243)

Alternative names: Zinc finger gene in AITD susceptibility region, Zinc finger protein 406

All UniProt accessions (9): Q9P243, E5RGN2, E5RH37, E5RJL9, E5RJT2, E9PBN4, F8W7M8, H0YBJ1, H0YC51

UniProt curated annotations — full annotation on UniProt →

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.

Subcellular location. Nucleus. Cytoplasm. Cytosol.

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, CD19+ B-cells and CD14+ monocytes.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9P243-1	1, ZFAT-1	yes
Q9P243-2	2, ZFAT-2, ZFAT-3
Q9P243-3	3, TR-ZFAT
Q9P243-4	4

RefSeq proteins (6): NP_001025110, NP_001161055, NP_001167628, NP_001167629, NP_001276323, NP_065914* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR050688	Zinc_finger/UBP_domain	Family

Pfam: PF00096, PF13909

UniProt features (122 total): binding site 48, strand 20, zinc finger region 19, helix 12, turn 5, region of interest 5, compositionally biased region 4, splice variant 4, sequence variant 4, chain 1

Structure

Experimental structures (PDB)

26 structures.

PDB	Method	Resolution (Å)
2ELM	SOLUTION NMR
2ELN	SOLUTION NMR
2ELO	SOLUTION NMR
2ELP	SOLUTION NMR
2ELQ	SOLUTION NMR
2ELR	SOLUTION NMR
2ELS	SOLUTION NMR
2ELT	SOLUTION NMR
2ELU	SOLUTION NMR
2ELV	SOLUTION NMR
2RSH	SOLUTION NMR
2RSI	SOLUTION NMR
2RSJ	SOLUTION NMR
2RUT	SOLUTION NMR
2RUU	SOLUTION NMR
2RUV	SOLUTION NMR
2RUW	SOLUTION NMR
2RUX	SOLUTION NMR
2RUY	SOLUTION NMR
2RUZ	SOLUTION NMR
2RV0	SOLUTION NMR
2RV1	SOLUTION NMR
2RV2	SOLUTION NMR
2RV3	SOLUTION NMR
2RV6	SOLUTION NMR
2RV7	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P243-F1	57.81	0.01

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (48): 273; 276; 289; 293; 301; 304; 317; 321; 328; 331; 344; 349 …

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 73 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, CACCAGC_MIR138, YY1_02, KMCATNNWGGA_UNKNOWN, TGGAAA_NFAT_Q4_01, GCCATNTTG_YY1_Q6, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, WAKABAYASHI_ADIPOGENESIS_PPARG_RXRA_BOUND_8D, chr8q24, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, CAVIN1_TARGET_GENES

GO Biological Process (5): hematopoietic progenitor cell differentiation (GO:0002244), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), hemopoiesis (GO:0030097), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (7): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), zinc ion binding (GO:0008270), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
cellular anatomical structure	2
hemopoiesis	1
cell differentiation	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
cell development	1
positive regulation of DNA-templated transcription	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
transition metal ion binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1232 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ZFAT	NCAPG	Q9BPX3	644
ZFAT	TG	P01266	639
ZFAT	LCORL	Q8N3X6	634
ZFAT	SLC26A4	O43511	559
ZFAT	TPO	P07202	524
ZFAT	PTPN22	Q9Y2R2	521
ZFAT	FOXD3	Q9UJU5	511
ZFAT	ZC3H12C	Q9C0D7	508
ZFAT	SLC5A5	Q92911	497
ZFAT	LASP1	Q14847	494
ZFAT	F5H6H0	F5H6H0	457
ZFAT	CD19	P15391	452
ZFAT	MAGI2	Q86UL8	446
ZFAT	ENO1	P06733	444
ZFAT	SPNS3	Q6ZMD2	443

IntAct

12 interactions, top by confidence:

A	B	Type	Score
DAXX	ZFAT	psi-mi:“MI:0915”(physical association)	0.520
CENPB	ZFAT	psi-mi:“MI:0915”(physical association)	0.400
YY1AP1	ZFAT	psi-mi:“MI:0915”(physical association)	0.370
HSPB1	ZFAT	psi-mi:“MI:0915”(physical association)	0.370
SUPV3L1	BLTP3B	psi-mi:“MI:2364”(proximity)	0.270
NPM1	SBNO1	psi-mi:“MI:2364”(proximity)	0.270
TULP3	ZFAT	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (15): ZFAT (Two-hybrid), ZFAT (Synthetic Lethality), ZFAT (Affinity Capture-RNA), ZFAT (Two-hybrid), ZFAT (Affinity Capture-MS), ZFAT (Negative Genetic), ZFAT (Negative Genetic), ZFAT (Affinity Capture-Western), DAXX (Affinity Capture-Western), CENPB (Affinity Capture-Western), ZFAT (Affinity Capture-Western), ZFAT (Protein-peptide), ZFAT (Two-hybrid), ZFAT (Affinity Capture-RNA), ZFAT (Two-hybrid)

ESM2 similar proteins: A0A1D5NS60, A0JN76, A1YFX5, A2T7G6, A6NJL1, D2HQI1, F1MJR8, O14901, P0CG00, P10754, P22227, P98182, Q0IJ29, Q1L8W0, Q3SWU4, Q5DW34, Q5EAC5, Q5EXX3, Q5RHB5, Q5SXI5, Q5T619, Q66H04, Q6NRM8, Q6NV66, Q6ZSB9, Q7M6U3, Q7TS63, Q7TSH3, Q7ZWZ4, Q801P1, Q86VK4, Q8BKX7, Q8BXX2, Q8NAM6, Q8NAP3, Q8NCP5, Q8R0A2, Q91VW9, Q96IT1, Q96N77

Diamond homologs: A1L2U9, A2A884, A2ANX9, B0X0K1, B0X9H6, B0XS89, B1WAZ8, B1WBU4, E9PZZ1, E9Q6W4, G5EBU4, O15090, O60315, O62836, O73694, O75362, O77459, P08048, P10925, P15822, P17010, P17012, P20662, P26635, P28166, P28575, P28698, P31509, P31629, P36197, P52739, P53243, P60319, P78871, P80944, Q00453, Q00900, Q01800, Q02026, Q02027

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

170 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	130
Likely benign	10
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

3677 predictions. Top by Δscore:

Variant	Effect	Δscore
8:134478721:CCTG:C	acceptor_loss	1.0000
8:134478723:T:G	acceptor_loss	1.0000
8:134509613:CCCTA:C	donor_loss	1.0000
8:134509614:CCTAC:C	donor_loss	1.0000
8:134509616:TACC:T	donor_loss	1.0000
8:134509618:C:CA	donor_loss	1.0000
8:134509618:CCTG:C	donor_gain	1.0000
8:134509747:CGC:C	acceptor_gain	1.0000
8:134509747:CGCCT:C	acceptor_gain	1.0000
8:134509748:GCC:G	acceptor_loss	1.0000
8:134509749:CCT:C	acceptor_gain	1.0000
8:134509750:C:CC	acceptor_gain	1.0000
8:134509751:T:C	acceptor_gain	1.0000
8:134509751:T:TC	acceptor_gain	1.0000
8:134512474:CCA:C	donor_gain	1.0000
8:134512474:CCACT:C	donor_gain	1.0000
8:134520873:A:C	donor_gain	1.0000
8:134520884:T:TA	donor_gain	1.0000
8:134520885:C:A	donor_gain	1.0000
8:134532829:CCTA:C	donor_loss	1.0000
8:134532830:CTAC:C	donor_loss	1.0000
8:134532831:TACCT:T	donor_loss	1.0000
8:134532832:A:T	donor_loss	1.0000
8:134532833:C:A	donor_loss	1.0000
8:134532833:CCTTG:C	donor_gain	1.0000
8:134532970:AGG:A	acceptor_gain	1.0000
8:134532973:C:CC	acceptor_gain	1.0000
8:134565327:TCTTA:T	donor_loss	1.0000
8:134565328:CTTAC:C	donor_loss	1.0000
8:134565329:TTAC:T	donor_loss	1.0000

AlphaMissense

8223 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:134520990:A:G	C1043R	1.000
8:134532952:G:C	C999W	1.000
8:134532954:A:G	C999R	1.000
8:134532961:A:C	C996W	1.000
8:134532963:A:G	C996R	1.000
8:134565359:G:C	H984D	1.000
8:134565367:A:G	L981P	1.000
8:134565398:A:G	C971R	1.000
8:134565407:A:G	C968R	1.000
8:134583854:G:C	H955Q	1.000
8:134583854:G:T	H955Q	1.000
8:134583856:G:C	H955D	1.000
8:134583864:A:G	L952P	1.000
8:134583881:G:C	F946L	1.000
8:134583881:G:T	F946L	1.000
8:134583882:A:G	F946S	1.000
8:134583883:A:G	F946L	1.000
8:134583895:A:G	C942R	1.000
8:134583902:A:C	C939W	1.000
8:134583903:C:G	C939S	1.000
8:134583903:C:T	C939Y	1.000
8:134583904:A:G	C939R	1.000
8:134583904:A:T	C939S	1.000
8:134583938:A:C	H927Q	1.000
8:134583938:A:T	H927Q	1.000
8:134583940:G:C	H927D	1.000
8:134583948:A:G	L924P	1.000
8:134583979:A:G	C914R	1.000
8:134583988:A:G	C911R	1.000
8:134588304:A:C	C885W	1.000

dbSNP variants (sampled 300 via entrez): RS1000010895 (8:134614022 C>T), RS1000011504 (8:134651772 A>G), RS1000028331 (8:134733730 C>T), RS1000030647 (8:134714407 T>C), RS1000036243 (8:134514551 T>G), RS1000040177 (8:134768891 G>C), RS1000044489 (8:134559263 T>C), RS1000049334 (8:134599444 T>C,G), RS1000064316 (8:134688837 C>T), RS1000068570 (8:134740724 G>A,T), RS1000080587 (8:134613732 C>T), RS1000082040 (8:134791632 T>A,C), RS1000091013 (8:134575058 G>A), RS1000091397 (8:134503399 A>C), RS1000097226 (8:134520404 A>G)

Disease associations

OMIM: gene MIM:610931 | disease phenotypes: MIM:608175

GenCC curated gene-disease

Mondo (1): autoimmune thyroid disease, susceptibility to, 3 (MONDO:0011982)

Orphanet (0):

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0100646	Thyroiditis

GWAS associations

60 associations (top):

Study	Trait	p-value
GCST000817_55	Height	2.000000e-14
GCST001263_10	Height	2.000000e-06
GCST001524_10	Visceral adipose tissue/subcutaneous adipose tissue ratio	5.000000e-06
GCST002647_76	Height	1.000000e-30
GCST002702_86	Height	2.000000e-07
GCST004066_8	Hip circumference	5.000000e-06
GCST004066_92	Hip circumference	2.000000e-08
GCST004067_103	Hip circumference adjusted for BMI	1.000000e-08
GCST004067_34	Hip circumference adjusted for BMI	4.000000e-07
GCST004138_6	Early-onset Parkinson’s disease	3.000000e-96
GCST004279_7	Systolic blood pressure	3.000000e-08
GCST004570_11	Iron status biomarkers (iron levels)	4.000000e-07
GCST004630_274	Mean corpuscular hemoglobin	1.000000e-10
GCST006254_1	Short-term memory (visuospatial task)	4.000000e-06
GCST006979_374	Heel bone mineral density	2.000000e-09
GCST007060_8	Response to SSRI (symptom remission)	7.000000e-07
GCST007061_4	Response to antidepressants (symptom remission)	7.000000e-07
GCST007267_335	Systolic blood pressure	4.000000e-09
GCST007269_226	Pulse pressure	2.000000e-08
GCST007576_141	Chronotype	8.000000e-09
GCST007576_432	Chronotype	3.000000e-08
GCST008839_467	Height	7.000000e-16
GCST009391_1743	Metabolite levels	6.000000e-06
GCST009391_1887	Metabolite levels	9.000000e-06
GCST012227_39	Hip circumference adjusted for BMI	1.000000e-08
GCST012227_40	Hip circumference adjusted for BMI	8.000000e-12
GCST012227_41	Hip circumference adjusted for BMI	6.000000e-12
GCST012227_42	Hip circumference adjusted for BMI	2.000000e-11
GCST012227_43	Hip circumference adjusted for BMI	8.000000e-10
GCST90000025_302	Appendicular lean mass	1.000000e-35

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0004767	visceral:subcutaneous adipose tissue ratio
EFO:0008039	BMI-adjusted hip circumference
EFO:0006335	systolic blood pressure
EFO:0004527	mean corpuscular hemoglobin
EFO:0004874	memory performance
EFO:0009270	heel bone mineral density
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0005763	pulse pressure measurement
EFO:0008328	chronotype measurement
EFO:0010348	cholesteryl ester 20:4 measurement
EFO:0010414	triacylglycerol 52:2 measurement
EFO:0004980	appendicular lean mass
EFO:0007991	eosinophil percentage of leukocytes
EFO:0010701	mean reticulocyte volume
EFO:0004305	erythrocyte count
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, decreases expression	3
Aflatoxin B1	increases methylation	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
alpha-pinene	affects cotreatment, affects expression, increases abundance	1
pirinixic acid	affects binding, decreases expression, increases activity	1
bisphenol A	decreases methylation, affects cotreatment, increases methylation	1
trichostatin A	affects expression	1
arsenite	affects binding, decreases reaction	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
methacrylaldehyde	affects expression, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
bisphenol S	affects cotreatment, increases methylation	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Acrolein	affects expression, increases abundance, affects cotreatment	1
Air Pollutants	affects cotreatment, affects expression, increases abundance	1
Arsenic	affects methylation	1
Vehicle Emissions	increases abundance, increases expression	1
Catechin	affects cotreatment, decreases expression	1
Cisplatin	affects cotreatment, decreases expression	1
Doxorubicin	decreases expression	1
Ozone	affects cotreatment, affects expression, increases abundance	1
Smoke	decreases expression	1
Urethane	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.