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Q14541

- HNF4G_HUMAN

UniProt

Q14541 - HNF4G_HUMAN

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Protein
Hepatocyte nuclear factor 4-gamma
Gene
HNF4G, NR2A2
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcription factor. Has a lower transcription activation potential than HNF4-alpha.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi9 – 8476Nuclear receptor
Add
BLAST
Zinc fingeri12 – 3221NR C4-type
Add
BLAST
Zinc fingeri48 – 7225NR C4-type
Add
BLAST

GO - Molecular functioni

  1. ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity Source: InterPro
  2. sequence-specific DNA binding Source: InterPro
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc
  4. steroid hormone receptor activity Source: InterPro
  5. zinc ion binding Source: InterPro

GO - Biological processi

  1. endocrine pancreas development Source: Reactome
  2. gene expression Source: Reactome
  3. positive regulation of transcription, DNA-templated Source: Ensembl
  4. regulation of transcription from RNA polymerase II promoter Source: ProtInc
  5. transcription initiation from RNA polymerase II promoter Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Receptor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding, Metal-binding, Zinc

Enzyme and pathway databases

ReactomeiREACT_13819. Regulation of gene expression in beta cells.
REACT_15525. Nuclear Receptor transcription pathway.
SignaLinkiQ14541.

Names & Taxonomyi

Protein namesi
Recommended name:
Hepatocyte nuclear factor 4-gamma
Short name:
HNF-4-gamma
Alternative name(s):
Nuclear receptor subfamily 2 group A member 2
Gene namesi
Name:HNF4G
Synonyms:NR2A2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:5026. HNF4G.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29351.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 408408Hepatocyte nuclear factor 4-gamma
PRO_0000053562Add
BLAST

Proteomic databases

MaxQBiQ14541.
PaxDbiQ14541.
PRIDEiQ14541.

PTM databases

PhosphoSiteiQ14541.

Expressioni

Tissue specificityi

Expressed in pancreas, kidney, small intestine and testis. Weakly expressed in colon. Not expressed in liver, skeletal muscle, lung, placenta, brain, heart, peripheral blood, ovary, prostate, thymus and spleen.

Gene expression databases

ArrayExpressiQ14541.
BgeeiQ14541.
CleanExiHS_HNF4G.
GenevestigatoriQ14541.

Organism-specific databases

HPAiHPA005438.

Interactioni

Protein-protein interaction databases

BioGridi109416. 12 interactions.
STRINGi9606.ENSP00000379701.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi103 – 11614
Helixi136 – 15520
Helixi158 – 1614
Helixi167 – 1748
Helixi176 – 18813
Beta strandi191 – 1966
Beta strandi202 – 2043
Turni210 – 2123
Helixi213 – 22210
Helixi224 – 2307
Helixi234 – 24512
Helixi256 – 27520
Beta strandi277 – 2804
Turni281 – 2833
Helixi284 – 2896
Helixi292 – 31120
Helixi319 – 3246
Turni325 – 3273

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1LV2X-ray2.70A103-328[»]
ProteinModelPortaliQ14541.
SMRiQ14541. Positions 11-328.

Miscellaneous databases

EvolutionaryTraceiQ14541.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Zinc-finger

Phylogenomic databases

eggNOGiNOG241134.
HOGENOMiHOG000260822.
HOVERGENiHBG005606.
InParanoidiQ14541.
KOiK08037.
OMAiANYSEVL.
OrthoDBiEOG7K3TKX.
PhylomeDBiQ14541.
TreeFamiTF352097.

Family and domain databases

Gene3Di1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProiIPR003068. COUP_TF.
IPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PfamiPF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view]
PRINTSiPR01282. COUPTNFACTOR.
PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTiSM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view]
SUPFAMiSSF48508. SSF48508. 1 hit.
PROSITEiPS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q14541-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

MNTTDNGVNC LCAICGDRAT GKHYGASSCD GCKGFFRRSI RKSHVYSCRF    50
SRQCVVDKDK RNQCRYCRLR KCFRAGMKKE AVQNERDRIS TRRSTFDGSN 100
IPSINTLAQA EVRSRQISVS SPGSSTDINV KKIASIGDVC ESMKQQLLVL 150
VEWAKYIPAF CELPLDDQVA LLRAHAGEHL LLGATKRSMM YKDILLLGNN 200
YVIHRNSCEV EISRVANRVL DELVRPFQEI QIDDNEYACL KAIVFFDPDA 250
KGLSDPVKIK NMRFQVQIGL EDYINDRQYD SRGRFGELLL LLPTLQSITW 300
QMIEQIQFVK LFGMVKIDNL LQEMLLGGAS NDGSHLHHPM HPHLSQDPLT 350
GQTILLGPMS TLVHADQIST PETPLPSPPQ GSGQEQYKIA ANQASVISHQ 400
HLSKQKQL 408
Length:408
Mass (Da):45,877
Last modified:November 13, 2007 - v3
Checksum:iC75410E10251AE9F
GO
Isoform 2 (identifier: Q14541-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MDMANYSEVLDPTYTTLEFETMQILYNSSDSSAPETSM

Show »
Length:445
Mass (Da):50,041
Checksum:iCA8F19E4AF99E81B
GO

Sequence cautioni

The sequence CAE11875.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti190 – 1901M → I.1 Publication
Corresponds to variant rs1805098 [ dbSNP | Ensembl ].
VAR_009704

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MDMANYSEVLDPTYTTLEFE TMQILYNSSDSSAPETSM in isoform 2.
VSP_037691

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti28 – 281S → T in CAA89990. 1 Publication
Sequence conflicti28 – 281S → T in AAF00110. 1 Publication
Sequence conflicti45 – 451V → I in CAA89990. 1 Publication
Sequence conflicti45 – 451V → I in AAF00110. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z49826 mRNA. Translation: CAA89990.2.
BX571750 mRNA. Translation: CAE11875.1. Different initiation.
AF133504
, AF133496, AF133497, AF133498, AF133499, AF133500, AF133501, AF133502, AF133503 Genomic DNA. Translation: AAF00110.1.
AF207953 Genomic DNA. No translation available.
BC105009 mRNA. Translation: AAI05010.1.
BC105011 mRNA. Translation: AAI05012.1.
CCDSiCCDS6220.2. [Q14541-2]
PIRiJC6095.
RefSeqiNP_004124.4. NM_004133.4. [Q14541-2]
UniGeneiHs.241529.

Genome annotation databases

EnsembliENST00000354370; ENSP00000346339; ENSG00000164749. [Q14541-1]
ENST00000396423; ENSP00000379701; ENSG00000164749. [Q14541-2]
GeneIDi3174.
KEGGihsa:3174.
UCSCiuc003yaq.3. human. [Q14541-1]

Polymorphism databases

DMDMi160110004.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Hepatocyte nuclear factors entry

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
Z49826 mRNA. Translation: CAA89990.2 .
BX571750 mRNA. Translation: CAE11875.1 . Different initiation.
AF133504
, AF133496 , AF133497 , AF133498 , AF133499 , AF133500 , AF133501 , AF133502 , AF133503 Genomic DNA. Translation: AAF00110.1 .
AF207953 Genomic DNA. No translation available.
BC105009 mRNA. Translation: AAI05010.1 .
BC105011 mRNA. Translation: AAI05012.1 .
CCDSi CCDS6220.2. [Q14541-2 ]
PIRi JC6095.
RefSeqi NP_004124.4. NM_004133.4. [Q14541-2 ]
UniGenei Hs.241529.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1LV2 X-ray 2.70 A 103-328 [» ]
ProteinModelPortali Q14541.
SMRi Q14541. Positions 11-328.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109416. 12 interactions.
STRINGi 9606.ENSP00000379701.

Chemistry

ChEMBLi CHEMBL1961786.

PTM databases

PhosphoSitei Q14541.

Polymorphism databases

DMDMi 160110004.

Proteomic databases

MaxQBi Q14541.
PaxDbi Q14541.
PRIDEi Q14541.

Protocols and materials databases

DNASUi 3174.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000354370 ; ENSP00000346339 ; ENSG00000164749 . [Q14541-1 ]
ENST00000396423 ; ENSP00000379701 ; ENSG00000164749 . [Q14541-2 ]
GeneIDi 3174.
KEGGi hsa:3174.
UCSCi uc003yaq.3. human. [Q14541-1 ]

Organism-specific databases

CTDi 3174.
GeneCardsi GC08P076370.
H-InvDB HIX0007597.
HGNCi HGNC:5026. HNF4G.
HPAi HPA005438.
MIMi 605966. gene.
neXtProti NX_Q14541.
PharmGKBi PA29351.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG241134.
HOGENOMi HOG000260822.
HOVERGENi HBG005606.
InParanoidi Q14541.
KOi K08037.
OMAi ANYSEVL.
OrthoDBi EOG7K3TKX.
PhylomeDBi Q14541.
TreeFami TF352097.

Enzyme and pathway databases

Reactomei REACT_13819. Regulation of gene expression in beta cells.
REACT_15525. Nuclear Receptor transcription pathway.
SignaLinki Q14541.

Miscellaneous databases

ChiTaRSi HNF4G. human.
EvolutionaryTracei Q14541.
GeneWikii Hepatocyte_nuclear_factor_4_gamma.
GenomeRNAii 3174.
NextBioi 12594.
PROi Q14541.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q14541.
Bgeei Q14541.
CleanExi HS_HNF4G.
Genevestigatori Q14541.

Family and domain databases

Gene3Di 1.10.565.10. 1 hit.
3.30.50.10. 1 hit.
InterProi IPR003068. COUP_TF.
IPR008946. Nucl_hormone_rcpt_ligand-bd.
IPR000536. Nucl_hrmn_rcpt_lig-bd_core.
IPR001723. Str_hrmn_rcpt.
IPR001628. Znf_hrmn_rcpt.
IPR013088. Znf_NHR/GATA.
[Graphical view ]
Pfami PF00104. Hormone_recep. 1 hit.
PF00105. zf-C4. 1 hit.
[Graphical view ]
PRINTSi PR01282. COUPTNFACTOR.
PR00398. STRDHORMONER.
PR00047. STROIDFINGER.
SMARTi SM00430. HOLI. 1 hit.
SM00399. ZnF_C4. 1 hit.
[Graphical view ]
SUPFAMi SSF48508. SSF48508. 1 hit.
PROSITEi PS00031. NUCLEAR_REC_DBD_1. 1 hit.
PS51030. NUCLEAR_REC_DBD_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human hepatocyte nuclear factor 4 isoforms are encoded by distinct and differentially expressed genes."
    Drewes T., Senkel S., Holewa B., Ryffel G.U.
    Mol. Cell. Biol. 16:925-931(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
    Tissue: Kidney.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  3. "Hepatocyte nuclear factor-4gamma: cDNA sequence, gene organization, and mutation screening in early-onset autosomal-dominant type 2 diabetes."
    Plengvidhya N., Antonellis A., Wogan L.T., Poleev A., Borgschulze M., Warram J.H., Ryffel G.U., Krolewski A.S., Doria A.
    Diabetes 48:2099-2102(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT ILE-190.
  4. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  6. Cited for: X-RAY CRYSTALLOGRAPHY (2.7 ANGSTROMS) OF 103-328.

Entry informationi

Entry nameiHNF4G_HUMAN
AccessioniPrimary (citable) accession number: Q14541
Secondary accession number(s): Q7Z2V9, Q9UH81, Q9UIS6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 13, 2007
Last modified: September 3, 2014
This is version 149 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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