Details for: HNF4A

Gene ID: 3172

Symbol: HNF4A

Ensembl ID: ENSG00000101076

Description: hepatocyte nuclear factor 4 alpha

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: precursor cell (CL0011115)
    Fold Change: 12.2082
    Cell Significance Index: 92.5800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 6.1337
    Cell Significance Index: 278.0200
  • Cell Name: tuft cell of small intestine (CL0009080)
    Fold Change: 5.3886
    Cell Significance Index: 54.3600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 4.5946
    Cell Significance Index: 99.5400
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 3.4896
    Cell Significance Index: 29.6600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 3.1966
    Cell Significance Index: 92.1000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 2.9985
    Cell Significance Index: 50.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.9534
    Cell Significance Index: 586.1100
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 2.4854
    Cell Significance Index: 270.3400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 2.3191
    Cell Significance Index: 57.9700
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 2.2125
    Cell Significance Index: 15.5700
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 2.1887
    Cell Significance Index: 23.7200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.9655
    Cell Significance Index: 319.6700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 1.9561
    Cell Significance Index: -5.2400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.6467
    Cell Significance Index: 34.1600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.6433
    Cell Significance Index: 191.5100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.5293
    Cell Significance Index: 32.5700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.4676
    Cell Significance Index: 21.9900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.3207
    Cell Significance Index: 31.9900
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.0706
    Cell Significance Index: 6.1700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.0590
    Cell Significance Index: 8.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 1.0144
    Cell Significance Index: 35.6500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7399
    Cell Significance Index: 44.4200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.5712
    Cell Significance Index: 8.1800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5258
    Cell Significance Index: 52.0100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.5185
    Cell Significance Index: 8.7200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4463
    Cell Significance Index: 84.9400
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.3786
    Cell Significance Index: 9.4400
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3528
    Cell Significance Index: 24.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2847
    Cell Significance Index: 9.1200
  • Cell Name: colonocyte (CL1000347)
    Fold Change: 0.1537
    Cell Significance Index: 0.9500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1500
    Cell Significance Index: 2.5700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1485
    Cell Significance Index: 25.3600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1132
    Cell Significance Index: 102.1800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1030
    Cell Significance Index: 1.5200
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.0669
    Cell Significance Index: 0.6600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.0439
    Cell Significance Index: 5.0100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0389
    Cell Significance Index: 7.8000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.0386
    Cell Significance Index: 0.3000
  • Cell Name: liver dendritic cell (CL2000055)
    Fold Change: 0.0379
    Cell Significance Index: 0.1000
  • Cell Name: intrahepatic cholangiocyte (CL0002538)
    Fold Change: 0.0345
    Cell Significance Index: 0.1300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0169
    Cell Significance Index: 0.1800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0038
    Cell Significance Index: 0.6900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0016
    Cell Significance Index: 2.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0014
    Cell Significance Index: 1.8400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0013
    Cell Significance Index: 2.0000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0010
    Cell Significance Index: 0.7100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0009
    Cell Significance Index: 1.7300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.0001
    Cell Significance Index: 0.0200
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0001
    Cell Significance Index: -0.0900
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: -0.0011
    Cell Significance Index: -0.0100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0013
    Cell Significance Index: -0.7200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0015
    Cell Significance Index: -0.8600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0021
    Cell Significance Index: -0.7600
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.0032
    Cell Significance Index: -0.0200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0032
    Cell Significance Index: -0.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0050
    Cell Significance Index: -0.5700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0054
    Cell Significance Index: -1.5400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0063
    Cell Significance Index: -4.6200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0069
    Cell Significance Index: -4.3600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0074
    Cell Significance Index: -3.3800
  • Cell Name: stem cell (CL0000034)
    Fold Change: -0.0083
    Cell Significance Index: -0.0600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0182
    Cell Significance Index: -2.2400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0184
    Cell Significance Index: -0.2800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0213
    Cell Significance Index: -2.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0223
    Cell Significance Index: -3.0600
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0271
    Cell Significance Index: -1.1800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0279
    Cell Significance Index: -0.7800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0300
    Cell Significance Index: -3.1200
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: -0.0358
    Cell Significance Index: -0.2900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0372
    Cell Significance Index: -2.2800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0373
    Cell Significance Index: -2.5100
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0417
    Cell Significance Index: -0.4400
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0465
    Cell Significance Index: -1.4700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0474
    Cell Significance Index: -1.2700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0490
    Cell Significance Index: -5.7800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0491
    Cell Significance Index: -0.7400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0529
    Cell Significance Index: -4.1900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0536
    Cell Significance Index: -4.1100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0546
    Cell Significance Index: -1.7400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0615
    Cell Significance Index: -1.5800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0616
    Cell Significance Index: -0.4200
  • Cell Name: goblet cell (CL0000160)
    Fold Change: -0.0619
    Cell Significance Index: -0.5600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0631
    Cell Significance Index: -1.0400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0703
    Cell Significance Index: -4.3200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0786
    Cell Significance Index: -4.4100
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0796
    Cell Significance Index: -2.7900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0823
    Cell Significance Index: -3.6400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0864
    Cell Significance Index: -2.8300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0876
    Cell Significance Index: -4.5500
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0893
    Cell Significance Index: -1.5400
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.0920
    Cell Significance Index: -0.6000
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: -0.0954
    Cell Significance Index: -0.5600
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: -0.0969
    Cell Significance Index: -1.0000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0969
    Cell Significance Index: -3.6700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0981
    Cell Significance Index: -6.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1002
    Cell Significance Index: -2.8600
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1027
    Cell Significance Index: -5.3900
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.1031
    Cell Significance Index: -0.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1049
    Cell Significance Index: -4.8900

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** HNF4A is a transcription factor that belongs to the nuclear receptor superfamily. It is a DNA-binding protein that regulates gene expression by binding to specific DNA sequences, known as HNF4A response elements. HNF4A is primarily expressed in tissues of mesodermal origin, including the liver, pancreas, kidney, and intestine. It is also present in stem cells and embryonic tissues, where it plays a critical role in development and patterning. **Pathways and Functions** HNF4A regulates a wide range of biological processes, including: 1. **Cell differentiation**: HNF4A is involved in regulating the differentiation of various cell types, including hepatocytes, pancreatic beta cells, and kidney proximal tubule epithelial cells. 2. **Gene expression**: HNF4A regulates the expression of numerous genes involved in metabolism, growth, and development. 3. **Metabolic regulation**: HNF4A plays a key role in regulating glucose, lipid, and cholesterol homeostasis. 4. **Cell proliferation**: HNF4A inhibits cell proliferation and promotes apoptosis in certain contexts. 5. **Developmental biology**: HNF4A is involved in regulating embryonic development, including gastrulation and organogenesis. **Clinical Significance** Dysregulation of HNF4A has been implicated in several diseases, including: 1. **Type 2 diabetes**: Mutations in the HNF4A gene have been associated with maturity-onset diabetes of the young (MODY) type 1, a form of diabetes characterized by early onset and autosomal dominant inheritance. 2. **Liver disease**: HNF4A is involved in regulating liver function and metabolism. Dysregulation of HNF4A has been implicated in liver disease, including non-alcoholic fatty liver disease (NAFLD) and cirrhosis. 3. **Cancer**: HNF4A has been identified as a tumor suppressor gene in certain contexts, and its dysregulation has been implicated in various types of cancer, including pancreatic cancer and kidney cancer. 4. **Metabolic disorders**: HNF4A plays a key role in regulating metabolic homeostasis, and its dysregulation has been implicated in metabolic disorders, including obesity and insulin resistance. **Significantly Expressed Cells** HNF4A is expressed in a variety of tissues, including: 1. **Colon epithelial cell**: HNF4A is involved in regulating the differentiation of colon epithelial cells. 2. **Hepatoblast**: HNF4A plays a critical role in regulating the development of hepatoblasts, the precursors to mature hepatocytes. 3. **Choroid plexus epithelial cell**: HNF4A is involved in regulating the differentiation of choroid plexus epithelial cells, which produce cerebrospinal fluid. 4. **Enterocyte**: HNF4A regulates the differentiation of enterocytes, the cells that line the intestine. 5. **Kidney proximal straight tubule epithelial cell**: HNF4A plays a key role in regulating the differentiation of kidney proximal straight tubule epithelial cells. In conclusion, HNF4A is a crucial transcription factor that regulates a wide range of biological processes, including cell differentiation, gene expression, and metabolic regulation. Its dysregulation has been implicated in several diseases, including diabetes, liver disease, and cancer. Further research is needed to fully understand the mechanisms by which HNF4A regulates gene expression and its clinical significance.

Genular Protein ID: 943854242

Symbol: HNF4A_HUMAN

Name: Hepatocyte nuclear factor 4-alpha

UniProtKB Accession Codes:

P41235 A5JW41 B2RPP8 O00659 O00723 Q14540 Q5QPB8 Q6B4V5 Q6B4V6 Q6B4V7 Q92653 Q92654 Q92655 Q99864 Q9NQH0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 6 CDD 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 EMBL 32 Ensembl 6 EvolutionaryTrace 1 ExpressionAtlas 1 GO 44 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 8 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PIR 3 PRINTS 3 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 7 RNAct 1 Reactome 3 RefSeq 9 SIGNOR 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8964514

Title: Isolation and characterization of a third isoform of human hepatocyte nuclear factor 4.

PubMed ID: 8964514

DOI: 10.1016/0378-1119(96)00183-7

PubMed ID: 8622695

Title: Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes.

PubMed ID: 8622695

DOI: 10.1128/mcb.16.3.925

PubMed ID: 8945471

Title: Mutations in the hepatocyte nuclear factor-4alpha gene in maturity-onset diabetes of the young (MODY1).

PubMed ID: 8945471

DOI: 10.1038/384458a0

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

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

PubMed ID: 7926813

Title: Cloning and sequencing of cDNAs encoding the human hepatocyte nuclear factor 4 indicate the presence of two isoforms in human liver.

PubMed ID: 7926813

DOI: 10.1016/0378-1119(94)90079-5

PubMed ID: 7568236

Title: Recruitment of hepatocyte nuclear factor 4 into specific intranuclear compartments depends on tyrosine phosphorylation that affects its DNA-binding and transactivation potential.

PubMed ID: 7568236

DOI: 10.1073/pnas.92.21.9876

PubMed ID: 12740371

Title: AMP-activated protein kinase regulates HNF4alpha transcriptional activity by inhibiting dimer formation and decreasing protein stability.

PubMed ID: 12740371

DOI: 10.1074/jbc.m304112200

PubMed ID: 21708125

Title: Multiple post-translational modifications in hepatocyte nuclear factor 4alpha.

PubMed ID: 21708125

DOI: 10.1016/j.bbrc.2011.06.033

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: 28128295

Title: RNA helicase DDX3 maintains lipid homeostasis through upregulation of the microsomal triglyceride transfer protein by interacting with HNF4 and SHP.

PubMed ID: 28128295

DOI: 10.1038/srep41452

PubMed ID: 30468856

Title: Nuclear hormone receptors: Ancient 9aaTAD and evolutionally gained NCoA activation pathways.

PubMed ID: 30468856

DOI: 10.1016/j.jsbmb.2018.11.008

PubMed ID: 30597922

Title: HNF4A regulates the formation of hepatic progenitor cells from human iPSC-Derived endoderm by facilitating efficient recruitment of RNA Pol II.

PubMed ID: 30597922

DOI: 10.3390/genes10010021

PubMed ID: 30530698

Title: Nuclear receptor HNF4A transrepresses CLOCK:BMAL1 and modulates tissue-specific circadian networks.

PubMed ID: 30530698

DOI: 10.1073/pnas.1816411115

PubMed ID: 14982928

Title: Structural basis for HNF-4alpha activation by ligand and coactivator binding.

PubMed ID: 14982928

DOI: 10.1074/jbc.m400864200

PubMed ID: 9313765

Title: Organization and partial sequence of the hepatocyte nuclear factor-4-alpha/MODY1 gene and identification of a missense mutation, R127W, in a Japanese family with MODY.

PubMed ID: 9313765

DOI: 10.2337/diacare.46.10.1652

PubMed ID: 9243109

Title: A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.

PubMed ID: 9243109

DOI: 10.1007/s001250050760

PubMed ID: 9267996

Title: Studies of the genetic variability of the coding region of the hepatocyte nuclear factor-4alpha in Caucasians with maturity onset NIDDM.

PubMed ID: 9267996

DOI: 10.1007/s001250050778

PubMed ID: 9449683

Title: A missense mutation in hepatocyte nuclear factor-4-alpha, resulting in a reduced transactivation activity, in human late-onset non-insulin-dependent diabetes mellitus.

PubMed ID: 9449683

DOI: 10.1172/jci1403

PubMed ID: 10389854

Title: Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).

PubMed ID: 10389854

DOI: 10.2337/diabetes.48.7.1459

PubMed ID: 17407387

Title: Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.

PubMed ID: 17407387

DOI: 10.1371/journal.pmed.0040118

PubMed ID: 22802087

Title: Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

PubMed ID: 22802087

DOI: 10.1210/jc.2012-1356

PubMed ID: 24285859

Title: The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a beta cell phenotype.

PubMed ID: 24285859

DOI: 10.1136/jmedgenet-2013-102066

Sequence Information:

  • Length: 474
  • Mass: 52785
  • Checksum: 5F1309B89D95DCAF
  • Sequence:
    • MRLSKTLVDM DMADYSAALD PAYTTLEFEN VQVLTMGNDT SPSEGTNLNA PNSLGVSALC 
AICGDRATGK HYGASSCDGC KGFFRRSVRK NHMYSCRFSR QCVVDKDKRN QCRYCRLKKC 
FRAGMKKEAV QNERDRISTR RSSYEDSSLP SINALLQAEV LSRQITSPVS GINGDIRAKK 
IASIADVCES MKEQLLVLVE WAKYIPAFCE LPLDDQVALL RAHAGEHLLL GATKRSMVFK 
DVLLLGNDYI VPRHCPELAE MSRVSIRILD ELVLPFQELQ IDDNEYAYLK AIIFFDPDAK 
GLSDPGKIKR LRSQVQVSLE DYINDRQYDS RGRFGELLLL LPTLQSITWQ MIEQIQFIKL 
FGMAKIDNLL QEMLLGGSPS DAPHAHHPLH PHLMQEHMGT NVIVANTMPT HLSNGQMCEW 
PRPRGQAATP ETPQPSPPGG SGSEPYKLLP GAVATIVKPL SAIPQPTITK QEVI

Genular Protein ID: 127878254

Symbol: F1D8T0_HUMAN

Name: N/A

UniProtKB Accession Codes:

F1D8T0

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 ExpressionAtlas 1 GO 20 Gene3D 2 InterPro 8 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 3 PROSITE 5 Pfam 2 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

Sequence Information:

  • Length: 452
  • Mass: 50150
  • Checksum: 96854D18F389B0F9
  • Sequence:
    • MVSVNAPLGA PVESSYDTSP SEGTNLNAPN SLGVSALCAI CGDRATGKHY GASSCDGCKG 
FFRRSVRKNH MYSCRFSRQC VVDKDKRNQC RYCRLKKCFR AGMKKEAVQN ERDRISTRRS 
SYEDSSLPSI NALLQAEVLS RQITSPVSGI NGDIRAKKIA SIADVCESMK EQLLVLVEWA 
KYIPAFCELP LDDQVALLRA HAGEHLLLGA TKRSMVFKDV LLLGNDYIVP RHCPELAEMS 
RVSIRILDEL VLPFQELQID DNEYAYLKAI IFFDPDAKGL SDPGKIKRLR SQVQVSLEDY 
INDRQYDSRG RFGELLLLLP TLQSITWQMI EQIQFIKLFG MAKIDNLLQE MLLGGSPSDA 
PHAHHPLHPH LMQEHMGTNV IVANTMPTHL SNGQMCEWPR PRGQAATPET PQPSPPGGSG 
SEPYKLLPGA VATIVKPLSA IPQPTITKQE VI

Genular Protein ID: 1536292568

Symbol: B9VVT8_HUMAN

Name: N/A

UniProtKB Accession Codes:

B9VVT8

Database IDs:

ARBA 9 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 2 GO 4 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 4 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 3 PeptideAtlas 1 Pfam 1 Proteomes 2 RefSeq 3 SAM 1 SMART 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11780052

Title: The DNA sequence and comparative analysis of human chromosome 20.

PubMed ID: 11780052

DOI: 10.1038/414865a

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 103
  • Mass: 11507
  • Checksum: DEC3966F09802721
  • Sequence:
    • MSDWGQGFPQ DPPDTSPSEG TNLNAPNSLG VSALCAICGD RATGKHYGAS SCDGCKGFFR 
RSVRKNHMYS CRFSRQCVVD KDKRNQCRYC RLKKCFRAGM KKE

Genular Protein ID: 206450864

Symbol: F1D8S2_HUMAN

Name: N/A

UniProtKB Accession Codes:

F1D8S2

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 GO 6 Gene3D 2 HOGENOM 1 InterPro 8 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 3 PROSITE 5 Pfam 2 RefSeq 1 RuleBase 1 SAM 1 SMART 2 SMR 1 SUPFAM 2 VEuPathDB 1 iPTMnet 1

Sequence Information:

  • Length: 464
  • Mass: 51619
  • Checksum: FF0A4FB233ADCC56
  • Sequence:
    • MRLSKTLVDM DMADYSAALD PAYTTLEFEN VQVLTMGNDT SPSEGTNLNA PNSLGVSALC 
AICGDRATGK HYGASSCDGC KGFFRRSVRK NHMYSCRFSR QCVVDKDKRN QCRYCRLKKC 
FRAGMKKEAV QNERDRISTR RSSYEDSSLP SINALLQAEV LSRQITSPVS GINGDIRAKK 
IASIADVCES MKEQLLVLVE WAKYIPAFCE LPLDDQVALL RAHAGEHLLL GATKRSMVFK 
DVLLLGNDYI VPRHCPELAE MSRVSIRILD ELVLPFQELQ IDDNEYAYLK AIIFFDPDAK 
GLSDPGKIKR LRSQVQVSLE DYINDRQYDS RGRFGELLLL LPTLQSITWQ MIEQIQFIKL 
FGMAKIDNLL QEMLLGGSPS DAPHAHHPLH PHLMQEHMGT NVIVANTMPT HLSNGQMSTP 
ETPQPSPPGG SGSEPYKLLP GAVATIVKPL SAIPQPTITK QEVI

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.