Details for: ZFHX3

Gene ID: 463

Symbol: ZFHX3

Ensembl ID: ENSG00000140836

Description: zinc finger homeobox 3

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 605.0973
    Cell Significance Index: -94.1200
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 368.7066
    Cell Significance Index: -93.5200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 201.6637
    Cell Significance Index: -95.2100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 173.3385
    Cell Significance Index: -70.4200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 167.6370
    Cell Significance Index: -86.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 76.7667
    Cell Significance Index: -94.6500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 73.7476
    Cell Significance Index: -70.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 24.2120
    Cell Significance Index: -52.9900
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 23.9962
    Cell Significance Index: -94.6900
  • Cell Name: suprabasal keratinocyte (CL4033013)
    Fold Change: 9.2096
    Cell Significance Index: 148.0900
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 8.3226
    Cell Significance Index: 56.3900
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 3.5596
    Cell Significance Index: 37.0800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.8851
    Cell Significance Index: 1309.4700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.8162
    Cell Significance Index: 558.8800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 2.8007
    Cell Significance Index: 71.9900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.6719
    Cell Significance Index: 24.6100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 2.3251
    Cell Significance Index: 56.7300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.0601
    Cell Significance Index: 371.3800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.9365
    Cell Significance Index: 238.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 1.8462
    Cell Significance Index: 81.6600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 1.8330
    Cell Significance Index: 69.4100
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 1.5821
    Cell Significance Index: 15.9600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.1300
    Cell Significance Index: 8.7100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 1.0360
    Cell Significance Index: 20.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.9705
    Cell Significance Index: 1827.3300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.8970
    Cell Significance Index: 68.8400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.8910
    Cell Significance Index: 565.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.8843
    Cell Significance Index: 49.6200
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.7785
    Cell Significance Index: 99.8000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.7604
    Cell Significance Index: 415.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6560
    Cell Significance Index: 64.9000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.5585
    Cell Significance Index: 16.0100
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 0.5528
    Cell Significance Index: 8.4100
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.4735
    Cell Significance Index: 6.8000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4697
    Cell Significance Index: 324.8300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.4496
    Cell Significance Index: 46.8100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4214
    Cell Significance Index: 151.1500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.4162
    Cell Significance Index: 5.1900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3965
    Cell Significance Index: 27.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.3856
    Cell Significance Index: 593.5800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.3550
    Cell Significance Index: 16.5500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.3462
    Cell Significance Index: 638.4600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3427
    Cell Significance Index: 15.5400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2572
    Cell Significance Index: 15.4400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2027
    Cell Significance Index: 40.6700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1713
    Cell Significance Index: 4.9400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1542
    Cell Significance Index: 4.3100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1162
    Cell Significance Index: 6.0400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0933
    Cell Significance Index: 2.5000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0887
    Cell Significance Index: 120.5600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0526
    Cell Significance Index: 10.0100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0317
    Cell Significance Index: 5.4100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0163
    Cell Significance Index: 7.2100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0100
    Cell Significance Index: -0.3500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0454
    Cell Significance Index: -33.6000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0568
    Cell Significance Index: -1.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0658
    Cell Significance Index: -9.0400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0696
    Cell Significance Index: -51.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0791
    Cell Significance Index: -49.4000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1049
    Cell Significance Index: -2.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.1094
    Cell Significance Index: -17.7900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1170
    Cell Significance Index: -88.5400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1226
    Cell Significance Index: -69.1500
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -0.1574
    Cell Significance Index: -2.5400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1601
    Cell Significance Index: -9.8400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1772
    Cell Significance Index: -18.1000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2169
    Cell Significance Index: -5.9100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2276
    Cell Significance Index: -33.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2323
    Cell Significance Index: -48.9200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2591
    Cell Significance Index: -74.5500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3292
    Cell Significance Index: -6.8900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.4286
    Cell Significance Index: -7.2200
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4833
    Cell Significance Index: -6.1000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.5106
    Cell Significance Index: -59.5100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.5383
    Cell Significance Index: -61.6700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5537
    Cell Significance Index: -13.8400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.6245
    Cell Significance Index: -80.6800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.6581
    Cell Significance Index: -42.4600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.6771
    Cell Significance Index: -79.8500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.7997
    Cell Significance Index: -91.2900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.8120
    Cell Significance Index: -13.5900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.8595
    Cell Significance Index: -17.8300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.9481
    Cell Significance Index: -70.6600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.9537
    Cell Significance Index: -75.5300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -1.0385
    Cell Significance Index: -69.8300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -1.0537
    Cell Significance Index: -66.4100
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -1.0793
    Cell Significance Index: -15.9300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -1.0890
    Cell Significance Index: -77.0200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -1.1035
    Cell Significance Index: -57.4800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -1.1362
    Cell Significance Index: -53.4000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.1706
    Cell Significance Index: -24.9300
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -1.2480
    Cell Significance Index: -40.8600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.2852
    Cell Significance Index: -44.6600
  • Cell Name: peg cell (CL4033014)
    Fold Change: -1.3803
    Cell Significance Index: -31.8900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.4874
    Cell Significance Index: -91.1900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -1.4966
    Cell Significance Index: -78.5800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -1.6124
    Cell Significance Index: -81.4800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.6182
    Cell Significance Index: -51.8300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -1.7275
    Cell Significance Index: -55.0200
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: -1.9422
    Cell Significance Index: -18.7900

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The ZFHX3 gene encodes a transcription factor that belongs to the homeobox family, which is characterized by the presence of a zinc finger domain and a homeodomain. The gene is highly conserved across species, with a high degree of sequence similarity to other homeobox genes. ZFHX3 is a transcriptional repressor, meaning it regulates the expression of genes by binding to specific DNA sequences and modulating the activity of RNA polymerase II. The gene is also involved in various signaling pathways, including those mediated by transforming growth factor-beta (TGF-β) and the Runx3 transcription factor. **Pathways and Functions:** The ZFHX3 gene is involved in several key cellular processes, including: 1. **Muscle Development and Differentiation:** ZFHX3 regulates the expression of genes involved in muscle development and differentiation, including the transcriptional repressor cdkn1a. 2. **Cell Adhesion:** The gene is involved in regulating cell adhesion, particularly in the context of muscle development and contraction. 3. **Circadian Regulation:** ZFHX3 is expressed in cells involved in the regulation of the circadian rhythm, including the ciliary muscle cell and the renal interstitial pericyte. 4. **Transcriptional Regulation:** The gene acts as a transcriptional repressor, modulating the expression of genes involved in various cellular processes. **Clinical Significance:** Dysregulation of the ZFHX3 gene has been implicated in several diseases, including: 1. **Muscular Dystrophy:** Mutations in the ZFHX3 gene have been associated with muscular dystrophy, a group of genetic disorders characterized by progressive muscle weakness and degeneration. 2. **Circadian Rhythm Disorders:** Alterations in the expression of ZFHX3 have been linked to circadian rhythm disorders, including delayed sleep phase syndrome and non-24-hour sleep-wake disorder. 3. **Cancer:** The gene is involved in regulating cell growth and proliferation, making it a potential target for cancer therapy. **Significantly Expressed Cells:** The ZFHX3 gene is highly expressed in a variety of cell types, including: 1. **Chromaffin Cells:** ZFHX3 is expressed in chromaffin cells, which are involved in the regulation of the sympathetic nervous system. 2. **Taste Receptor Cells:** The gene is expressed in taste receptor cells, which are involved in the detection of taste stimuli. 3. **Skeletal Muscle Fibers:** ZFHX3 is expressed in skeletal muscle fibers, where it regulates muscle development and contraction. 4. **Renal Interstitial Pericytes:** The gene is expressed in renal interstitial pericytes, which are involved in the regulation of blood pressure and kidney function. In conclusion, the ZFHX3 gene is a critical regulator of various cellular processes, including transcription, cell adhesion, and muscle development. Its dysregulation has been implicated in several diseases, highlighting the importance of this gene in maintaining tissue homeostasis and overall health. Further research is needed to fully elucidate the functions and significance of the ZFHX3 gene.

Genular Protein ID: 2090749973

Symbol: ZFHX3_HUMAN

Name: Zinc finger homeobox protein 3

UniProtKB Accession Codes:

Q15911 D3DWS8 O15101 Q13719 Q6ZP98

Database IDs:

AGR 1 Antibodypedia 1 Bgee 1 BioGRID 2 BioGRID-ORCS 2 BioMuta 2 CCDS 2 CDD 1 CTD 1 ChiTaRS 2 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 3 EvolutionaryTrace 1 GO 26 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 5 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 2 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7592926

Title: Cloning and characterization of an ATBF1 isoform that expresses in a neuronal differentiation-dependent manner.

PubMed ID: 7592926

DOI: 10.1074/jbc.270.45.26840

PubMed ID: 1719379

Title: A human alpha-fetoprotein enhancer-binding protein, ATBF1, contains four homeodomains and seventeen zinc fingers.

PubMed ID: 1719379

DOI: 10.1128/mcb.11.12.6041-6049.1991

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10493829

Title: Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.

PubMed ID: 10493829

DOI: 10.1006/geno.1999.5927

PubMed ID: 11312261

Title: Positive and negative regulation of myogenic differentiation of C2C12 cells by isoforms of the multiple homeodomain zinc finger transcription factor ATBF1.

PubMed ID: 11312261

DOI: 10.1074/jbc.m010378200

PubMed ID: 14715251

Title: ATBF1 enhances the suppression of STAT3 signaling by interaction with PIAS3.

PubMed ID: 14715251

DOI: 10.1016/j.bbrc.2003.12.054

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17330845

Title: Subcellular localization of ATBF1 regulates MUC5AC transcription in gastric cancer.

PubMed ID: 17330845

DOI: 10.1002/ijc.22654

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 19597491

Title: A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke.

PubMed ID: 19597491

DOI: 10.1038/ng.417

PubMed ID: 19597492

Title: Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry.

PubMed ID: 19597492

DOI: 10.1038/ng.416

PubMed ID: 20599712

Title: Tumor suppressor, AT motif binding factor 1 (ATBF1), translocates to the nucleus with runt domain transcription factor 3 (RUNX3) in response to TGF-beta signal transduction.

PubMed ID: 20599712

DOI: 10.1016/j.bbrc.2010.06.090

PubMed ID: 20720010

Title: ATBF1 inhibits estrogen receptor (ER) function by selectively competing with AIB1 for binding to the ER in ER-positive breast cancer cells.

PubMed ID: 20720010

DOI: 10.1074/jbc.m110.128330

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 22452784

Title: Oestrogen causes ATBF1 protein degradation through the oestrogen-responsive E3 ubiquitin ligase EFP.

PubMed ID: 22452784

DOI: 10.1042/bj20111890

PubMed ID: 23145062

Title: Human ALKBH4 interacts with proteins associated with transcription.

PubMed ID: 23145062

DOI: 10.1371/journal.pone.0049045

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25105025

Title: TGF-beta signaling cooperates with AT motif-binding factor-1 for repression of the alpha -fetoprotein promoter.

PubMed ID: 25105025

DOI: 10.1155/2014/970346

PubMed ID: 24651376

Title: Characterization of nuclear localization and SUMOylation of the ATBF1 transcription factor in epithelial cells.

PubMed ID: 24651376

DOI: 10.1371/journal.pone.0092746

PubMed ID: 28112733

Title: Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation.

PubMed ID: 28112733

DOI: 10.1038/nsmb.3366

PubMed ID: 37449401

Title: Loss of the atrial fibrillation-related gene, Zfhx3, results in atrial dilation and arrhythmias.

PubMed ID: 37449401

DOI: 10.1161/circresaha.123.323029

PubMed ID: 38035881

Title: Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease.

PubMed ID: 38035881

DOI: 10.1016/j.ajhg.2023.11.008

PubMed ID: 38684900

Title: A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.

PubMed ID: 38684900

DOI: 10.1038/s41588-024-01719-5

Sequence Information:

  • Length: 3703
  • Mass: 404419
  • Checksum: 395F5D14A08112CB
  • Sequence:
    • MEGCDSPVVS GKDNGCGIPQ HQQWTELNST HLPDKPSSME QSTGESHGPL DSLRAPFNER 
LAESTASAGP PSEPASKEVT CNECSASFAS LQTYMEHHCP SARPPPPLRE ESASDTGEEG 
DEESDVENLA GEIVYQPDGS AYIVESLSQL TQGGGACGSG SGSGPLPSLF LNSLPGAGGK 
QGDPSCAAPV YPQIINTFHI ASSFGKWFEG PDQAFPNTSA LAGLSPVLHS FRVFDVRHKS 
NKDYLNSDGS AKSSCVSKDV PNNVDLSKFD GFVLYGKRKP ILMCFLCKLS FGYVRSFVTH 
AVHDHRMTLS EDERKILSNK NISAIIQGIG KDKEPLVSFL EPKNKNFQHP LVSTANLIGP 
GHSFYGKFSG IRMEGEEALP AGSAAGPEQP QAGLLTPSTL LNLGGLTSSV LKTPITSVPL 
GPLASSPTKS SEGKDSGAAE GEKQEVGDGD CFSEKVEPAE EEAEEEEEEE EAEEEEEEEE 
EEEEEEEDEG CKGLFPSELD EELEDRPHEE PGAAAGSSSK KDLALSNQSI SNSPLMPNVL 
QTLSRGTAST SSNSASSFVV FDGANRRNRL SFNSEGVRAN VAEGGRRLDF ADESANKDNA 
TAPEPNESTE GDDGGFVPHH QHAGSLCELG VGECPSGSGV ECPKCDTVLG SSRSLGGHMT 
MMHSRNSCKT LKCPKCNWHY KYQQTLEAHM KEKHPEPGGS CVYCKSGQPH PRLARGESYT 
CGYKPFRCEV CNYSTTTKGN LSIHMQSDKH LNNMQNLQNG GGEQVFSHTA GAAAAAVAAA 
AAAANISSSC GAPSPTKPKT KPTWRCEVCD YETNVARNLR IHMTSEKHMH NMMLLQQNMT 
QIQHNRHLGL GSLPSPAEAE LYQYYLAQNM NLPNLKMDSA ASDAQFMMSG FQLDPAGPMA 
AMTPALVGGE IPLDMRLGGG QLVSEELMNL GESFIQTNDP SLKLFQCAVC NKFTTDNLDM 
LGLHMNVERS LSEDEWKAVM GDSYQCKLCR YNTQLKANFQ LHCKTDKHVQ KYQLVAHIKE 
GGKANEWRLK CVAIGNPVHL KCNACDYYTN SLEKLRLHTV NSRHEASLKL YKHLQQHESG 
VEGESCYYHC VLCNYSTKAK LNLIQHVRSM KHQRSESLRK LQRLQKGLPE EDEDLGQIFT 
IRRCPSTDPE EAIEDVEGPS ETAADPEELA KDQEGGASSS QAEKELTDSP ATSKRISFPG 
SSESPLSSKR PKTAEEIKPE QMYQCPYCKY SNADVNRLRV HAMTQHSVQP MLRCPLCQDM 
LNNKIHLQLH LTHLHSVAPD CVEKLIMTVT TPEMVMPSSM FLPAAVPDRD GNSNLEEAGK 
QPETSEDLGK NILPSASTEQ SGDLKPSPAD PGSVREDSGF ICWKKGCNQV FKTSAALQTH 
FNEVHAKRPQ LPVSDRHVYK YRCNQCSLAF KTIEKLQLHS QYHVIRAATM CCLCQRSFRT 
FQALKKHLET SHLELSEADI QQLYGGLLAN GDLLAMGDPT LAEDHTIIVE EDKEEESDLE 
DKQSPTGSDS GSVQEDSGSE PKRALPFRKG PNFTMEKFLD PSRPYKCTVC KESFTQKNIL 
LVHYNSVSHL HKLKRALQES ATGQPEPTSS PDNKPFKCNT CNVAYSQSST LEIHMRSVLH 
QTKARAAKLE AASGSSNGTG NSSSISLSSS TPSPVSTSGS NTFTTSNPSS AGIAPSSNLL 
SQVPTESVGM PPLGNPIGAN IASPSEPKEA NRKKLADMIA SRQQQQQQQQ QQQQQQQQQQ 
QAQTLAQAQA QVQAHLQQEL QQQAALIQSQ LFNPTLLPHF PMTTETLLQL QQQQHLLFPF 
YIPSAEFQLN PEVSLPVTSG ALTLTGTGPG LLEDLKAQVQ VPQQSHQQIL PQQQQNQLSI 
AQSHSALLQP SQHPEKKNKL VIKEKEKESQ RERDSAEGGE GNTGPKETLP DALKAKEKKE 
LAPGGGSEPS MLPPRIASDA RGNATKALLE NFGFELVIQY NENKQKVQKK NGKTDQGENL 
EKLECDSCGK LFSNILILKS HQEHVHQNYF PFKQLERFAK QYRDHYDKLY PLRPQTPEPP 
PPPPPPPPPP LPAAPPQPAS TPAIPASAPP ITSPTIAPAQ PSVPLTQLSM PMELPIFSPL 
MMQTMPLQTL PAQLPPQLGP VEPLPADLAQ LYQHQLNPTL LQQQNKRPRT RITDDQLRVL 
RQYFDINNSP SEEQIKEMAD KSGLPQKVIK HWFRNTLFKE RQRNKDSPYN FSNPPITSLE 
ELKIDSRPPS PEPPKQEYWG SKRSSRTRFT DYQLRVLQDF FDANAYPKDD EFEQLSNLLN 
LPTRVIVVWF QNARQKARKN YENQGEGKDG ERRELTNDRY IRTSNLNYQC KKCSLVFQRI 
FDLIKHQKKL CYKDEDEEGQ DDSQNEDSMD AMEILTPTSS SCSTPMPSQA YSAPAPSANN 
TASSAFLQLT AEAEELATFN SKTEAGDEKP KLAEAPSAQP NQTQEKQGQP KPELQQQEQP 
EQKTNTPQQK LPQLVSLPSL PQPPPQAPPP QCPLPQSSPS PSQLSHLPLK PLHTSTPQQL 
ANLPPQLIPY QCDQCKLAFP SFEHWQEHQQ LHFLSAQNQF IHPQFLDRSL DMPFMLFDPS 
NPLLASQLLS GAIPQIPASS ATSPSTPTST MNTLKRKLEE KASASPGEND SGTGGEEPQR 
DKRLRTTITP EQLEILYQKY LLDSNPTRKM LDHIAHEVGL KKRVVQVWFQ NTRARERKGQ 
FRAVGPAQAH RRCPFCRALF KAKTALEAHI RSRHWHEAKR AGYNLTLSAM LLDCDGGLQM 
KGDIFDGTSF SHLPPSSSDG QGVPLSPVSK TMELSPRTLL SPSSIKVEGI EDFESPSMSS 
VNLNFDQTKL DNDDCSSVNT AITDTTTGDE GNADNDSATG IATETKSSSA PNEGLTKAAM 
MAMSEYEDRL SSGLVSPAPS FYSKEYDNEG TVDYSETSSL ADPCSPSPGA SGSAGKSGDS 
GDRPGQKRFR TQMTNLQLKV LKSCFNDYRT PTMLECEVLG NDIGLPKRVV QVWFQNARAK 
EKKSKLSMAK HFGINQTSYE GPKTECTLCG IKYSARLSVR DHIFSQQHIS KVKDTIGSQL 
DKEKEYFDPA TVRQLMAQQE LDRIKKANEV LGLAAQQQGM FDNTPLQALN LPTAYPALQG 
IPPVLLPGLN SPSLPGFTPS NTALTSPKPN LMGLPSTTVP SPGLPTSGLP NKPSSASLSS 
PTPAQATMAM GPQQPPQQQQ QQQQPQVQQP PPPPAAQPPP TPQLPLQQQQ QRKDKDSEKV 
KEKEKAHKGK GEPLPVPKKE KGEAPTATAA TISAPLPTME YAVDPAQLQA LQAALTSDPT 
ALLTSQFLPY FVPGFSPYYA PQIPGALQSG YLQPMYGMEG LFPYSPALSQ ALMGLSPGSL 
LQQYQQYQQS LQEAIQQQQQ RQLQQQQQQK VQQQQPKASQ TPVPPGAPSP DKDPAKESPK 
PEEQKNTPRE VSPLLPKLPE EPEAESKSAD SLYDPFIVPK VQYKLVCRKC QAGFSDEEAA 
RSHLKSLCFF GQSVVNLQEM VLHVPTGGGG GGSGGGGGGG GGGGGGGSYH CLACESALCG 
EEALSQHLES ALHKHRTITR AARNAKEHPS LLPHSACFPD PSTASTSQSA AHSNDSPPPP 
SAAAPSSASP HASRKSWPQV VSRASAAKPP SFPPLSSSST VTSSSCSTSG VQPSMPTDDY 
SEESDTDLSQ KSDGPASPVE GPKDPSCPKD SGLTSVGTDT FRL

Genular Protein ID: 1744688580

Symbol: Q8N2Y6_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q8N2Y6

Database IDs:

ARBA 3 AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 5 Gene3D 1 IntAct 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 1 SAM 2 SMART 2 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 886
  • Mass: 98584
  • Checksum: D53825266E5B7EC2
  • Sequence:
    • MRLGGGQLVS EELMNLGESF IQTNDPSLKL FQCAVCNKFT TDNLDMLGLH MNVERSLSED 
EWKAVMGDSY QCKLCRYNTQ LKANFQLHCK TDKHVQKYQL VAHIKEGGKA NEWRLKCVAI 
GNPVHLKCNA CDYYTNSLEK LRLHTVNSRH EASLKLYKHL QQHESGVEGE SCYYHCVLCN 
YSTKAKLNLI QHVRSMKHQR SESLRKLQRL QKGLPEEDED LGQIFTIRRC PSTDPEEAIE 
DVEGPSETAA DPEELAKDQE GGASSSQAEK ELTDSPATSK RISFPGSSES PLSSKRPKTA 
EEIKPEQMYQ CPYCKYSNAD VNRLRVHAMT QHSVQPMLRC PLCQDMLNNK IHLQLHLTHL 
HSVAPDCVEK LIMTVTTPEM VMPSSMFLPA AVPDRDGNSN LEEAGKQPET SEDLGKNILP 
SASTEQSGDL KPSPADPGSV REDSGFICWK KGCNQVFKTS AALQTHFNEV HAKRPQLPVS 
DRHVYKYRCN QCSLAFKTIE KLQLHSQYHV IRAATMCCLC QRSFRTFQAL KKHLETSHLE 
LSEADIQQLY GGLLANGDLL AMGDPTLAED HTIIVEEDKE EESDLEDKQS PTGSDSGSVQ 
EDSGSEPKRA LPFRKGPNFT MEKFLDPSRP YKCTVCKESF TQKNILLVHY NSVSHLHKLK 
RALQESATGQ PEPTSSPDNK PFKCNTCNVA YSQSSTLEIH MRSVLHQTKA RAAKLEAASG 
SSNGTGNSSS ISLSSSTPSP VSTSGSNTFT TSNPSSAGIA PSSNLLSQVP TESVGMPPLG 
NPIGANIASP SEPKEANRKK LADMIASRQQ QQQQQQQQQQ QQQQQQQAQT LAQAQAQVQA 
HLQQELQQQA ALIQSQLFNP TLLPHFPMTT ETLLQLQQQQ HPLYPL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.