Details for: HNF4A

Gene ID: 3172

Symbol: HNF4A

Ensembl ID: ENSG00000101076

Description: hepatocyte nuclear factor 4 alpha

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 2.35
    Marker Score: 7389
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 2.2
    Marker Score: 7197
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 1.87
    Marker Score: 1719
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 1.72
    Marker Score: 8258
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.71
    Marker Score: 4031
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 1.66
    Marker Score: 8924
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.66
    Marker Score: 10660
  • Cell Name: midzonal region hepatocyte (CL0019028)
    Fold Change: 1.57
    Marker Score: 6788
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 1.5
    Marker Score: 5335
  • Cell Name: stem cell (CL0000034)
    Fold Change: 1.47
    Marker Score: 3499
  • Cell Name: intestinal crypt stem cell (CL0002250)
    Fold Change: 1.34
    Marker Score: 503.5
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.31
    Marker Score: 1303
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.3
    Marker Score: 322
  • Cell Name: precursor cell (CL0011115)
    Fold Change: 1.15
    Marker Score: 279
  • Cell Name: acinar cell (CL0000622)
    Fold Change: 1.14
    Marker Score: 804
  • Cell Name: enterocyte of colon (CL1000347)
    Fold Change: 1.13
    Marker Score: 1745
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 1.1
    Marker Score: 1059
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.07
    Marker Score: 6484
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71819
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48043
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 507
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 461
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.96
    Marker Score: 1551
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5354
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 0.93
    Marker Score: 5945
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2738
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.82
    Marker Score: 562
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.79
    Marker Score: 353
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 395
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.74
    Marker Score: 1408
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.74
    Marker Score: 384
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.73
    Marker Score: 468
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.73
    Marker Score: 664
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.7
    Marker Score: 281.5
  • Cell Name: mucus secreting cell (CL0000319)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.68
    Marker Score: 2858
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.65
    Marker Score: 188
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.65
    Marker Score: 696
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.64
    Marker Score: 185
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: 0.63
    Marker Score: 234
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 0.61
    Marker Score: 231
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 0.6
    Marker Score: 206
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.57
    Marker Score: 1169
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.57
    Marker Score: 1213
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 0.57
    Marker Score: 1292
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 441
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.55
    Marker Score: 8602
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.52
    Marker Score: 350
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: 0.51
    Marker Score: 136
  • Cell Name: progenitor cell of endocrine pancreas (CL0002351)
    Fold Change: 0.51
    Marker Score: 110
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.5
    Marker Score: 200
  • Cell Name: paneth cell (CL0000510)
    Fold Change: 0.46
    Marker Score: 323.5
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: 0.45
    Marker Score: 118
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.45
    Marker Score: 142
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 0.45
    Marker Score: 231
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.45
    Marker Score: 442
  • Cell Name: cholangiocyte (CL1000488)
    Fold Change: 0.43
    Marker Score: 162
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.43
    Marker Score: 418
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.41
    Marker Score: 190
  • Cell Name: enterocyte of epithelium proper of ileum (CL1000342)
    Fold Change: 0.4
    Marker Score: 116
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.39
    Marker Score: 126
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.39
    Marker Score: 101
  • Cell Name: type L enteroendocrine cell (CL0002279)
    Fold Change: 0.37
    Marker Score: 102
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.37
    Marker Score: 774
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.36
    Marker Score: 219
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.35
    Marker Score: 105
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.34
    Marker Score: 143
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.34
    Marker Score: 149
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.34
    Marker Score: 106
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 0.33
    Marker Score: 331
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.33
    Marker Score: 338
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.29
    Marker Score: 212
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.29
    Marker Score: 107
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.28
    Marker Score: 133
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.28
    Marker Score: 438
  • Cell Name: epithelial fate stem cell (CL0000036)
    Fold Change: 0.27
    Marker Score: 78
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.26
    Marker Score: 275
  • Cell Name: inflammatory macrophage (CL0000863)
    Fold Change: 0.25
    Marker Score: 79
  • Cell Name: type I enteroendocrine cell (CL0002277)
    Fold Change: 0.24
    Marker Score: 60
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.23
    Marker Score: 139
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.23
    Marker Score: 65
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.21
    Marker Score: 63
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.21
    Marker Score: 48
  • Cell Name: peptic cell (CL0000155)
    Fold Change: 0.19
    Marker Score: 81
  • Cell Name: ciliated cell (CL0000064)
    Fold Change: 0.19
    Marker Score: 656
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.19
    Marker Score: 357
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.19
    Marker Score: 75
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.18
    Marker Score: 67
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.18
    Marker Score: 106
  • Cell Name: multi-ciliated epithelial cell (CL0005012)
    Fold Change: 0.18
    Marker Score: 342
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.18
    Marker Score: 251
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.18
    Marker Score: 61
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.17
    Marker Score: 282
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.16
    Marker Score: 173
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.16
    Marker Score: 71
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 0.16
    Marker Score: 43
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.15
    Marker Score: 52

Hover over a box to see details here...

Hover over a box to see details here...

Hover over a box to see details here...

Other Information

**Key characteristics:** - HNF4A is a nuclear transcription factor that belongs to the HNF4 family. - It is highly expressed in hepatocytes and is also expressed in other cell types, such as epithelial cells and stem cells. - HNF4A has a complex expression pattern that is regulated by various factors, including growth factors, hormones, and cell type. **Pathways and functions:** - HNF4A is a key regulator of liver development. - It is required for the differentiation of hepatoblasts, which are cells that develop into hepatocytes. - HNF4A also plays a role in the regulation of liver function, including the regulation of bile production, gluconeogenesis, and metabolism. **Clinical significance:** - Mutations in the HNF4A gene have been linked to certain liver diseases, including hepatoblastoma and cholangiocarcinoma. - Understanding the role of HNF4A in liver development and function could lead to the development of new treatments for liver diseases. **Additional notes:** - HNF4A is a highly conserved protein that is found in all vertebrates. - It is a well-known target for cancer therapy due to its role in hepatocarcinogenesis. - Studies of HNF4A have revealed that it is a key regulator of cell growth, differentiation, and apoptosis.

Genular Protein ID: 943854242

Symbol: HNF4A_HUMAN

Name: Hepatocyte nuclear factor 4-alpha

UniProtKB Accession Codes:

Database IDs:

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: 1536292568

Symbol: B9VVT8_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11780052

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

PubMed ID: 11780052

DOI: 10.1038/414865a

Sequence Information:

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

Genular Protein ID: 127878254

Symbol: F1D8T0_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

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: 206450864

Symbol: F1D8S2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

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. For the full schema, download it here.