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This page presents information relevant for one locus, which is identified by its unique Genomatix LocusID. The data includes information collected from a number of publicly available sources as well as Genomatix curated data.
Identification and Functional Information shows
the Genomatix LocusID, the official or preferred gene name and gene symbol
from EntrezGene, synonyms etc. For genes identified as transcription factor,
the binding site description from the MatInspector matrix
library is listed (if available).
A click on the "Genome Browser" image will open the
Genomatix Genome Browser
preloaded with the selected locus.
Example:
Identification ![]() | |
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LocusID | GXL_316835 |
Name | hepatocyte nuclear factor 4 alpha |
Protein Name | HNF4alpha10/11/12,TCF-14,hepatic nuclear factor 4 alpha,hepatocyte nuclear factor 4, alpha,nuclear receptor subfamily 2 group A member 1,transcription factor 14,transcription factor HNF-4 |
Symbol | HNF4A |
Synonyms | FRTS4, HNF4, HNF4A, HNF4a7, HNF4a8, HNF4a9, HNF4alpha, MODY, MODY1, NR2A1, NR2A21, TCF, TCF14, hepatic nuclear factor 4alpha , hepatocyte nuclear factor (HNF)-4alpha, hepatocyte nuclear factor 4alpha, Hepatocyte Nuclear Factor 4{alpha}, hepatocyte nuclear factor-4, Hepatocyte nuclear factor-4alpha, Hepatocyte nuclear factors 4alpha |
Organism | Homo sapiens (human) |
Chromosomal Location | 20q13.12 |
GeneID at NCBI | 3172 |
GeneID at Ensembl | ENSG00000101076 |
Unigene Cluster | Hs.116462 |
Identified as Transcription Factor. DNA binding sites are described by V$NR2F. |
Functional Information | |
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The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012] |
References provides a list of manually curated references to PubMed relevant for this gene. The data is extracted from GeneRIF (NCBI).
Example:
Functional Reference | |
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Observational study of gene-disease association. (HuGE Navigator) | PubMed Link |
Control transcription of aldehyde dehydrogenase 2 | PubMed Link |
HNF4 alpha activates the insulin gene directly, through a previously unrecognized cis element | PubMed Link |
HNF-4alpha is involved in regulating cancer cell transmigration by modulating the Fas-FasL system | PubMed Link |
mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. | PubMed Link |
... |
If available, interactions between genes and transcription factors are displayed. These interactions have been extracted manually from PubMed abstracts by Genomatix experts. The table shows the type of the interaction (e.g. activating), the sentences of the PubMed abstracts from which the information has been derived from as well as a link to the complete PubMed abstracts.
Additionally, a link to all gene-gene co-citations from the Genomatix Literature Mining is available (will open a new window).
Example:
Gene-TF interactions (based on Genomatix' PubMed Literature Mining, 2013-11-19) | |||
---|---|---|---|
Genes | Type | Description | Citation |
CEBPA cooperates with HNF4A | - |
|
PubMed Link |
PPARGC1A regulates HNF4A | - |
| PubMed Link |
CREB1 cooperates with HNF4A | - |
|
PubMed Link |
... |
If available, signal transduction pathway associations extracted by LitInspector are displayed. The table shows the number of PubMed references where these pathway associations are described as well as links to graphical pathway representations of KEGG (if available).
Example:
Signal Transduction Pathway associations and potential interactions | |||
---|---|---|---|
Ref. | Pathway Component | Signaling Pathway | |
10 | MAPK | mitogen activated protein kinase signaling | |
9 | INS | insulin signaling | |
5 | PPARA | peroxisome proliferative activated receptor alpha signaling (KEGG) | |
5 | TGF BETA | tgf beta signaling (KEGG) | |
4 | NFKB | nf kappa b signaling | |
... |
All transcripts of the gene which have been mapped to the genomic sequences are listed. Redundant transcripts sharing an identical exon/intron structure with an other transcript are marked respectively. Prior to ElDorado 04-2019, redundant transcripts are only listed here and cannot be accessed in Eldorado. Starting with ElDorado 04-2019, information on redundant transcripts is shown, e.g. in the "Alternative Transcripts" view. The table shows the Genomatix transcript ID, the accession number of the mapped cDNA sequence, the description of the cDNA sequence, and the Pfam family.
Example:
Transcripts | |||
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TranscriptID | cDNA Accession | Description | Pfam family |
GXT_2815203 | NM_178850 | Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 3, mRNA This variant (3) includes an alternate segment compared to variant 2, that causes a frameshift. The resulting isoform (c) is shorter and has a distinct C-terminus compared to isoform b. | Hormone_recep | zf-C4 |
GXT_2807165 | NM_178849 | Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 1, mRNA This variant (1) uses an alternate in-frame splice site in the 3' coding region compared to variant 2, resulting in a shorter isoform (a) compared to isoform b. | Hormone_recep | zf-C4 |
GXT_21914753 | NM_175914 | Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 4, mRNA This variant (4) also known as variant 8, differs in the 5' UTR and has multiple coding region differences, compared to variant 2. These differences cause translation initiation at an upstream AUG and an isoform (d) with a shorter N-terminus compared to isoform b. | Hormone_recep | zf-C4 |
GXT_24881729 | NM_001258355 | Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 7, mRNA This variant (7) contains an alternate coding exon compared to variant 2, that causes a frameshift. The resulting isoform (g) has a shorter and distinct N-terminus compared to isoform b. | Hormone_recep | zf-C4 |
... |
All genes in the Genomatix homology group of the input genes are listed.
Example:
Homology Group Hg25393 | ||||
---|---|---|---|---|
Organism | LocusID | Symbol | Description | GeneID |
Macaca mulatta (rhesus monkey) | GXL_553011 | HNF4A | hepatocyte nuclear factor 4, alpha | 717972 |
Canis lupus familiaris (dog) | GXL_337846 | HNF4A | hepatocyte nuclear factor 4, alpha | 485884 |
Danio rerio (zebrafish) | GXL_528771 | hnf4a | hepatocyte nuclear factor 4, alpha | 322358 |
Mus musculus (mouse) | GXL_120457 | Hnf4a | hepatic nuclear factor 4, alpha | 15378 |
Oryctolagus cuniculus (rabbit) | GXL_1216151 | LOC100345457 | hepatocyte nuclear factor 4 alpha | 100345457 |
Sus scrofa (pig) | GXL_1621880 | HNF4A | hepatocyte nuclear factor 4, alpha | 733636 |
Rattus norvegicus (rat) | GXL_21050 | Hnf4a | hepatocyte nuclear factor 4, alpha | 25735 |
Gallus gallus (chicken) | GXL_611999 | HNF4A | hepatocyte nuclear factor 4, alpha | 419198 |
Pan troglodytes (chimp) | GXL_1786092 | HNF4A | hepatocyte nuclear factor 4, alpha | 458269 |
Taeniopygia guttata (zebra finch) | GXL_864927 | HNF4A | hepatocyte nuclear factor 4, alpha | 100221920 |
Bos taurus (cow) | GXL_1431578 | HNF4A | hepatocyte nuclear factor 4, alpha | 509200 |
Equus caballus (horse) | GXL_681304 | HNF4A | hepatocyte nuclear factor 4, alpha | 100056007 |
Monodelphis domestica (opossum) | GXL_699302 | HNF4A | hepatocyte nuclear factor 4, alpha | 100023834 |
Homo sapiens (human) | GXL_316835 | HNF4A | hepatocyte nuclear factor 4, alpha | 3172 |
Xenopus tropicalis (western clawed frog) | GXL_1261572 | hnf4a | hepatocyte nuclear factor 4, alpha | 100492541 |
Probe Sets from several Affymetrix chips which could be mapped to this locus are displayed. The table shows the Genomatix transcript ID and the probe sets of which at least one individual probe is located in the transcript. The number of the single probes that could be mapped to the transcript is given by the first number in the column "Matching Probes". The second number indicates how many probes of the probe set could be mapped to the genome without a mismatch.
Example:
Affymetrix Probe Sets | |||
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TranscriptID | Probe Set | Chip | Matching Probes |
GXT_2815203 | 208429_PM_x_at | Human Genome Array Plate | 5 / 9 |
GXT_2815203 | 36722_s_at | Human Genome U95Av2 | 3 / 16 |
GXT_2815203 | X87871_s_at | Human Genome FL (6800) | 8 / 20 |
GXT_2815203 | 208429_x_at | Human Genome U133A, Human Genome U133A 2.0, Human Genome U133 Plus 2.0 | 6 / 11 |
GXT_2815203 | 11738423_a_at | Human Genome U219 Plate | 11 / 11 |
... |
If this locus has a GeneID which is annotated with terms from Gene Ontology (GO), these term are displayed together with a PubMed reference for supporting evidence:
Example:
Gene Ontology | |||
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Category | Term | Evidence | Citation |
molecular_function | transcription factor activity | inferred from direct assay | PubMed Link |
molecular_function | steroid hormone receptor activity | inferred from electronic annotation | |
molecular_function | receptor binding | inferred from direct assay | PubMed Link |
molecular_function | steroid binding | inferred from electronic annotation | |
molecular_function | fatty acid binding | inferred from direct assay | PubMed Link |
... |
If further ontological annotations are available, they are displayed in a similar fashion:
Example:
Further Annotation | |||
---|---|---|---|
Category | Term | Evidence | Citation |
cellular role | Pol II transcription | not recorded | PubMed Link |
biochemical function | Receptor (signalling) | not recorded | PubMed Link |
subcellular localization | Nuclear | not recorded | PubMed Link |
organismal role | Blood clotting | not recorded | PubMed Link |
If available, enhancers linked with this locus are displayed. The table shows Id, Chr, Start, End and Source. The Id is a link to the 'Enhancer Info' page, while Start and End are links to the 'GenomeBrowser'.
Example:
Enhancer | ||||
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Id | Chr | Start | End | Source |
22_42688461_42688745 | 22 | 42688461 | 42688745 | Fantom5 |
22_42734382_42734730 | 22 | 42734382 | 42734730 | Fantom5 |
22_42743006_42743189 | 22 | 42743006 | 42743189 | Fantom5 |
Example:
Links to External Databases |
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EntrezGene NCBI Variation Viewer for GeneID 3172 HomoloGene for GeneID 3172 OMIM |
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