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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. HNF1A, HNF1 homeobox A
Sequence ID:NM_000545
RefSeqGene ID:NG_011731
Entrez Gene ID:6927
Ensembl ID:ENSG00000135100

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
DIABETES MELLITUS, INSULIN-DEPENDENTFOXP3
HLA-DQB1
HLA-DQB1
ITPR3
OAS1
PTPN22
SH2B3
DIABETES MELLITUS, NON-INSULIN-DEPENDENTABCC8
AKT2
CDKAL1
ENPP1
GCGR
GCK
GPD2
HMGA1
HMGA1
HNF1B
HNF4A
IGF2BP2
IL6
IRS1
IRS2
KCNJ11
LIPC
MAPK8IP1
MTNR1B
NEUROD1
NEUROD1
NEUROD1
PAX4
PDX1
PPARG
PTPN1
RETN
SLC2A4
SLC30A8
TCF7L2
VEGFA
WFS1
WFS1
DIABETESMELLITUS, INSULIN-DEPENDENT, 20 
HEPATIC ADENOMA, SOMATIC 
MODY, TYPE III 
RENAL CARCINOMA, CHROMOPHOBE, SOMATICDIRC2
FLCN
HNF1B
OGG1
RNF139
VHL

Cytogenetic Location (from UniGene)

Cytogenetic Location:12q24.2Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:12: 121416497 - 121439995

NM_000545 exon info from UCSC:

Transcript StartTranscript EndChromosomal Start Chromosomal End
1349121416548121416896
350549121426635121426834
550736121431322121431508
737978121431966121432207
9791130121434064121434215
11311332121434343121434544
13331524121435276121435467
15251646121437070121437191
16471791121437285121437429
17923236121438867121440311

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
8143911Full LengthBC104908HNF1 homeobox A
8143913Full LengthBC104910HNF1 homeobox A

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000536  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000545 NP_000536 P20823 HNF-1B_C
HNF-1A_C
HNF-1_N

Related Sequences

 
mRNAGenPeptSwissProt
M57732 AAA88077 P20823
BC104908 AAI04909 P20823
BC104910 AAI04911 P20823
EU446660 ABZ92189  
HM449088 ADK56177 E2I9R4
HM449089 ADK56178 E2I9R5
HM116541 ADM43481 E0YMI7
HM116542 ADM43482 E0YMI8
HM116543 ADM43483 E0YMI9
HM116544 ADM43484 E0YMJ0
HM116545 ADM43485 E0YMJ1
HM116546 ADM43486 E0YMJ2
HM116547 ADM43487 E0YMJ3
HM116548 ADM43488 E0YMJ4
HM116552 ADM43489 E0YMJ5
HM116557 ADM43494 E0YMK0
HM116558 ADM43495 E0YMK1
HM116559 ADM43496 E0YMK2
HM116561 ADM43497 E0YMK3
HM116563 ADM43498 E0YMK2
AK298422 BAG60646 B4DPN4
X71346 CAB59201 P20823

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens HNF1A NP_000536 R.norvegicus Hnf1a 24817   NP_036801 95
M.musculus Hnf1a 21405 Gene Info NP_033353 95

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)

BioCarta Pathways
Pathway information courtesy of BioCarta