HNF1A

Summary

HNF1A (HNF1 homeobox A, HGNC:11621) is a protein-coding gene on chromosome 12q24.31, encoding Hepatocyte nuclear factor 1-alpha (P20823). Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. It is haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5’-GTTAATNATTAAC-3’. Defects in this gene are a cause of maturity onset diabetes of the young type 3 (MODY3) and also can result in the appearance of hepatic adenomas. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 6927 — RefSeq curated summary.

At a glance

• Gene–disease (curated): monogenic diabetes (Definitive, ClinGen) — +6 more curated relationships
• GWAS associations: 138
• Clinical variants (ClinVar): 1,142 total — 192 pathogenic, 169 likely-pathogenic
• Phenotypes (HPO): 70
• Druggable target: yes
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 2 cancer types
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• Transcription factor: yes — 166 downstream targets (CollecTRI)
• MANE Select transcript: NM_000545

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11621
Approved symbol	HNF1A
Name	HNF1 homeobox A
Location	12q24.31
Locus type	gene with protein product
Status	Approved
Aliases	HNF1, LFB1, HNF1α
Ensembl gene	ENSG00000135100
Ensembl biotype	protein_coding
OMIM	142410
Entrez	6927

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 6 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000257555, ENST00000400024, ENST00000402929, ENST00000535955, ENST00000538626, ENST00000538646, ENST00000540108, ENST00000541395, ENST00000541924, ENST00000543255, ENST00000544413, ENST00000544574, ENST00000560968, ENST00000886299, ENST00000886300

RefSeq mRNA: 3 — MANE Select: NM_000545 NM_000545, NM_001306179, NM_001406915

CCDS: CCDS76611, CCDS9209

Canonical transcript exons

ENST00000257555 — 10 exons

Exon	Start	End
ENSE00001893688	120978543	120979094
ENSE00003478630	120997474	120997665
ENSE00003514431	120999268	120999389
ENSE00003675631	120999483	120999627
ENSE00003696575	120996262	120996413
ENSE00003697565	120996541	120996742
ENSE00003700642	120988833	120989032
ENSE00003701736	120994164	120994405
ENSE00003741801	120993520	120993706
ENSE00003901210	121001065	121002512

Expression profiles

Bgee: expression breadth broad, 81 present calls, max score 88.21.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2578 / max 25.8696, expressed in 51 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
128386	0.1625	40
128387	0.0676	30
128388	0.0277	14

Top tissues by expression

229 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
right lobe of liver	UBERON:0001114	88.21	gold quality
mucosa of transverse colon	UBERON:0004991	85.67	gold quality
liver	UBERON:0002107	81.18	gold quality
pancreatic ductal cell	CL:0002079	80.44	silver quality
adult mammalian kidney	UBERON:0000082	78.02	gold quality
triceps brachii	UBERON:0001509	77.89	silver quality
duodenum	UBERON:0002114	77.76	gold quality
body of pancreas	UBERON:0001150	77.60	gold quality
oocyte	CL:0000023	77.58	silver quality
gluteal muscle	UBERON:0002000	77.12	gold quality
small intestine Peyer’s patch	UBERON:0003454	74.79	gold quality
jejunal mucosa	UBERON:0000399	74.77	gold quality
small intestine	UBERON:0002108	74.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.41	silver quality
secondary oocyte	CL:0000655	74.26	gold quality
pancreas	UBERON:0001264	73.63	gold quality
kidney	UBERON:0002113	72.57	gold quality
ileal mucosa	UBERON:0000331	72.05	silver quality
transverse colon	UBERON:0001157	71.43	gold quality
metanephros cortex	UBERON:0010533	71.24	gold quality
colonic mucosa	UBERON:0000317	71.21	gold quality
body of stomach	UBERON:0001161	70.81	gold quality
cortex of kidney	UBERON:0001225	70.35	gold quality
parotid gland	UBERON:0001831	70.22	gold quality
buccal mucosa cell	CL:0002336	70.19	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	70.13	gold quality
mucosa of sigmoid colon	UBERON:0004993	69.99	silver quality
jejunum	UBERON:0002115	69.23	silver quality
metanephros	UBERON:0000081	68.77	gold quality
vena cava	UBERON:0004087	68.77	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.41

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

166 targets.

Target	Regulation
ABCA1	Unknown
ABCC2	Unknown
ACAT2	Activation
ACE2	Unknown
ADAM2
ADH1A	Activation
AFM	Unknown
AFP	Activation
AGT	Unknown
AKR1C4	Unknown
ALB	Unknown
ALDH3A1	Unknown
ALDOB	Activation
ANPEP	Unknown
APOA1
APOA2	Activation
APOB	Unknown
APOC3
APOH	Activation
APOM	Unknown
B3GALT5	Activation
C4BPA	Unknown
CAT
CD3E
CDH1
CDH17	Activation
CEBPA
CEL
CFTR	Activation
CIP2A

JASPAR motifs

Motif	Name	Family
MA0046.1	HNF1A	POU domain factors
MA0046.2	HNF1A	POU domain factors
MA0046.3	HNF1A	POU domain factors

JASPAR matrix evidence (PMIDs): PMID:9047360

Upstream regulators (CollecTRI, top): AR, CDX2, FOXA1, FOXA2, FOXM1, HNF1A, HNF1B, HNF4A, HNF4G, ISL1, NCOA1, NCOA2, NFIC, NKX6-1, NR0B2, NR2F1, NR2F2, NR5A2, PITX2, RBPJ, RXRA, ZHX2

miRNA regulators (miRDB)

58 targeting HNF1A, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-3934-3P	99.76	65.51	1351
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-486-3P	99.51	66.82	1901
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6815-3P	99.13	68.98	1530
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4324	99.04	70.14	1569

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• analysis of a non-functional mutation in Japanese subjects with familial type 1 diabetes (PMID:11668618)
• Mutation in hepatocyte nuclear factor-1alpha is not a common cause of MODY and early-onset type 2 diabetes in Korea. (PMID:11827432)
• Prevalence of the missense mutation Gly574Ser in the hepatocyte nuclear factor-1alpha in Africans with diabetes (PMID:11938027)
• Physical interaction with GATA-5 results in synergistic activation of the human lactase-phlorizin hydrolase promoter. (PMID:12011060)
• mutations in maturity-onset diabetes of the young (MODY) candidate genes in 22 Spanish families. (PMID:12050210)
• Mutations in the HNF-1 alpha gene seem to be an important cause of MODY in southern Chinese. The mutations could affect normal islet function by altering the expression of target genes. (PMID:12107757)
• These findings provide genetic evidence that HNF-1alpha serves as an upstream regulator of HNF-4alpha and interacts directly with the P2 promoter in human pancreatic cells. (PMID:12235114)
• results indicate that inactivation of TCF1, whether sporadic or associated with MODY3, is an important genetic event in the occurrence of human liver adenoma, and may be an early step in the development of some HCCs (PMID:12355088)
• Abnormal splicing is demonstrated in this gene in maturity-onset diabetes of the young. (PMID:12378390)
• Three HNF1A mutations, of which two were novel, namely 1051delCA and Q250X, were identified in Canadian MODY patients. (PMID:12442280)
• x-ray crystallography reveals a stable interface that further distinguishes HNF-1alpha from other flexible POU-homeodomain proteins (PMID:12453420)
• A missense mutation is prevalent in Canadian aboriginal youth with type 2 diabetes. (PMID:12453961)
• maternal hyperglycemia during pregnancy probably increases the penetrance of HNF-1alpha mutations (PMID:12453975)
• Mutations in HNF-1alpha accounts for diabetes in a small proportion of families with a dominant pattern of inheritance; age at onset of diabetes in MODY3 families varied widely and is influenced by familial factors (PMID:12453976)
• The L107I/HNF1alpha protein showed normal nuclear targeting but impaired binding to an HNF1 alpha consensus sequence. L107I substitution represents a MODY3 mutation which impairs beta-cell function by a loss-of-function mechanism. (PMID:12488960)
• Non-obese Japanese patients with non-Type 1 diabetes of youth have HNF-1alpha-deficient diabetes. Lack of obesity could well be a characteristic feature of this form of diabetes. (PMID:12488961)
• The L518P519fsTCC –> A was identified for the first time and this mutation might be a common cause of Japanese MODY3 in Okinawa area. In addition, both the T521I and V617I mutations were present in two patients in the same family. (PMID:12488962)
• haploinsufficiency of HNF1alpha is responsible for the pathogenesis of MODY3 (PMID:12530534)
• results suggest that the expression level of dihydrodiol dehydrogenase 4 mRNA is cooperatively regulated by the amounts of HNF-1 alpha, HNF-4 alpha and HNF-4 gamma (PMID:12544512)
• prevalence of HNF-1alpha mutations in families with three generations of diabetes, representing a subpopulation in which misclassification was likely (PMID:12547858)
• Data reveal DCoH/HNF-1 alpha expression and transcriptional activity in human epidermal melanocytes in vitro and in situ and identified tyrosinase, the key enzyme for pigmentation, as a new transcriptional target. (PMID:12565907)
• that beta-cell dysfunction in MODY3 is caused by loss-of-function mechanisms like reduced DNA binding, impaired transcriptional activation, and defects in subcellular localization. (PMID:12574234)
• 20 different mutations in the HNF-4alpha, GCK and HNF-1alpha in 29 families. Three of 3, 10 of 11 and 1 of 6 of the mutations identified in HNF-4alpha, GCK and HNF-1alpha respectively, were new. (PMID:12627330)
• loss of expression of this transcription factor in a subset of peripheral t-cell lymphomas (PMID:12707037)
• Mutation of HNF-1alpha at codon 263 from arginine to leucine leads to the development of MODY3. (PMID:12712243)
• role for HNF1 in microsatellite instability status in colorectal carcinogenesis (PMID:12730871)
• Single nucleotide polymorphism is not associated with ketosis-prone atypical diabetes. (PMID:12743700)
• Gene expression data from transgenic mice lacking HNF1alpha can be used to identify DNA binding sites for that factor. (PMID:12762846)
• role of the I27L polymorphism in the pathogenesis of type 2 diabetes (PMID:12773136)
• HNF-1 alpha gene locus is associated with serum HDL-c level, and Ile27 allele is a risk marker for atherosclerosis. (PMID:12788852)
• A newly characterized binding site for HNF-1 upstream of the STAT6 site in intron 1 of the human polymeric Ig receptor gene shows that HNF-1 is required for complete function of the IL-4-responsive enhancer in HT-29 epithelial cells. (PMID:12794133)
• HNF1 functionally replaces both vHNF1 isoforms, suggesting that the different developmental functions of these transcription factors are mainly due to the acquisition of novel expression patterns (PMID:12860991)
• findings suggest that HNF1 may have a major role in upregulating alternative transcription of the AE2 gene in the liver, and therefore it may contribute to the biliary secretion of bicarbonate in response to certain stimuli (PMID:14575719)
• HNF1 and hB1F are involved together in the viral gene expression regulation of the Hepatitis B virus. (PMID:14728801)
• study provides the first evidence that HNF-1alpha PTC mutations may be subject to nonsense-mediated decay (PMID:14747304)
• identifed systematically the genes occupied by the transcriptional regulators HNF1alpha, HNF4alpha, and HNF6, together with RNA polymerase II in human liver and pancreatic islets (PMID:14988562)
• diabetes phenotype due to HNF-1beta mutations is similar to that in HNF-1alpha (PMID:15111528)
• HNF1 did not affect the Hepatitis B virus WT core promoter, but suppressed the precore RNA expression of the double mutant in Huh7 hepatoma cells (PMID:15194767)
• Cdx-2 is a permissive factor that influences basal CaBP expression in enterocytes and that HNF-1alpha modulates CaBP gene expression during cellular differentiation. (PMID:15217781)
• Polymorphism contributes to glucose intolerance in a South Indian population (PMID:15277395)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Hnf1a	ENSMUSG00000029556
rattus_norvegicus	Hnf1a	ENSRNOG00000001183

Paralogs (1): HNF1B (ENSG00000275410)

Protein

Protein identifiers

Hepatocyte nuclear factor 1-alpha — P20823 (reviewed: P20823)

Alternative names: Liver-specific transcription factor LF-B1, Transcription factor 1

All UniProt accessions (6): P20823, A0A0A0MTK8, E0YMI8, F5H0K0, F5H3Z5, U3KQS6

UniProt curated annotations — full annotation on UniProt →

Function. Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver. Binds to the inverted palindrome 5’-GTTAATNATTAAC-3’. Activates the transcription of CYP1A2, CYP2E1 and CYP3A11. (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the activity of one of the critical cis-elements in the hepatitis B virus genome enhancer II (ENII).

Subunit / interactions. Binds DNA as a dimer. Heterotetramer with PCBD1; formed by a dimer of dimers. Interacts with PCBD1. Interacts with BHLHE41. Interacts with NR5A2. Interacts with SPOP; this interaction promotes ubiquitination and degradation of HNF1A.

Subcellular location. Nucleus.

Tissue specificity. Liver.

Post-translational modifications. Ubiquitinated in s SPOP-dependent manner; leading to prteasomal degradation.

Disease relevance. Hepatic adenomas familial (HEPAF) [MIM:142330] Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3). The disease is caused by variants affecting the gene represented in this entry. Bi-allelic inactivation of HNF1A, whether sporadic or associated with MODY3, may be an early step in the development of some hepatocellular carcinomas. Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. The disease is caused by variants affecting the gene represented in this entry. Type 1 diabetes mellitus 20 (T1D20) [MIM:612520] A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Polymorphism. The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses.

Miscellaneous. Due to intron retention.

Similarity. Belongs to the HNF1 homeobox family.

Isoforms (8)

UniProt ID	Names	Canonical?
P20823-1	A	yes
P20823-2	B
P20823-3	C
P20823-4	4
P20823-5	5
P20823-6	6
P20823-7	7, insIVS8
P20823-8	8, delta 2

RefSeq proteins (3): NP_000536, NP_001293108, NP_001393844 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR006897	HNF1b_C	Domain
IPR006898	HNF1a_C	Domain
IPR006899	HNF-1_N	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR010982	Lambda_DNA-bd_dom_sf	Homologous_superfamily
IPR023219	HNF1_dimer_N_dom_sf	Homologous_superfamily
IPR039066	HNF-1	Family
IPR044866	HNF_P1	Domain
IPR044869	HNF-1_POU	Domain

Pfam: PF04812, PF04813, PF04814

UniProt features (122 total): sequence variant 60, splice variant 14, helix 12, region of interest 11, mutagenesis site 9, modified residue 5, domain 2, turn 2, compositionally biased region 2, chain 1, sequence conflict 1, short sequence motif 1, cross-link 1, DNA-binding region 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
2GYP	X-RAY DIFFRACTION	1.4
8PI8	X-RAY DIFFRACTION	2.3
1IC8	X-RAY DIFFRACTION	2.6
8PI9	X-RAY DIFFRACTION	2.8
8PIA	X-RAY DIFFRACTION	2.8
8PI7	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P20823-F1	58.40	0.23

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (6): 70, 74, 93, 247, 313, 117

Mutagenesis-validated functional residues (9):

Position	Phenotype
132	abolishes transcription activation.
177	no significant effect on transcription activation.
186	no effect on transcription activation.
190	no effect on transcription activation.
202	reduces transcription activation by 70%.
246	reduces transcription activation by 75%.
257	reduces transcription activation by 70%.
117	strong loss of spop-mediated ubiquitination.
127	abolishes transcription activation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-210745	Regulation of gene expression in beta cells

MSigDB gene sets: 370 (showing top): GOBP_HEPATICOBILIARY_SYSTEM_DEVELOPMENT, GOBP_CARBOHYDRATE_TRANSPORT, FREAC2_01, GU_PDEF_TARGETS_DN, MORF_MSH3, BIOCARTA_MAL_PATHWAY, PID_HNF3B_PATHWAY, CMYB_01, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_INSULIN_SECRETION, MORF_BRCA1, NIKOLSKY_OVERCONNECTED_IN_BREAST_CANCER, GOBP_REGULATION_OF_HORMONE_LEVELS, AREB6_01, GOBP_HORMONE_TRANSPORT

GO Biological Process (10): liver development (GO:0001889), regulation of transcription by RNA polymerase II (GO:0006357), insulin secretion (GO:0030073), pancreas development (GO:0031016), renal D-glucose absorption (GO:0035623), glucose homeostasis (GO:0042593), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), obsolete D-glucose import (GO:0046323), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (10): transcription cis-regulatory region binding (GO:0000976), RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700), protein homodimerization activity (GO:0042803), protein heterodimerization activity (GO:0046982), protein dimerization activity (GO:0046983), protein binding (GO:0005515)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737), protein-containing complex (GO:0032991)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Regulation of beta-cell development	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
positive regulation of transcription by RNA polymerase II	2
protein dimerization activity	2
cellular anatomical structure	2
gland development	1
hepaticobiliary system development	1
protein secretion	1
peptide hormone secretion	1
animal organ development	1
renal absorption	1
D-glucose transmembrane transport	1
carbohydrate homeostasis	1
DNA-templated transcription	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
transcription initiation at RNA polymerase II promoter	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
nucleic acid binding	1
transcription cis-regulatory region binding	1
transcription regulator activity	1
identical protein binding	1
protein binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular_component	1

Protein interactions and networks

STRING

2350 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HNF1A	HNF4A	P41235	935
HNF1A	ONECUT1	Q9UBC0	914
HNF1A	GCK	P35557	898
HNF1A	FOXA2	Q9Y261	893
HNF1A	PAX4	O43316	888
HNF1A	INS	P01308	868
HNF1A	NEUROD1	Q13562	856
HNF1A	FOXA1	P55317	847
HNF1A	PCBD1	P61457	843
HNF1A	KCNJ11	Q14654	829
HNF1A	PDX1	P52945	828
HNF1A	ABCC8	Q09428	819
HNF1A	PTF1A	Q7RTS3	801
HNF1A	PHTF1	Q9UMS5	791
HNF1A	HNF1B	P35680	786

IntAct

43 interactions, top by confidence:

A	B	Type	Score
HNF1A	PCBD2	psi-mi:“MI:0914”(association)	0.760
PCBD1	HNF1A	psi-mi:“MI:0915”(physical association)	0.710
DYRK1B	HNF1A	psi-mi:“MI:0407”(direct interaction)	0.710
DYRK1B	HNF1A	psi-mi:“MI:0217”(phosphorylation reaction)	0.710
HNF1A	DYRK1B	psi-mi:“MI:0217”(phosphorylation reaction)	0.710
HNF1B	HNF1A	psi-mi:“MI:0915”(physical association)	0.560
HNF1A	SMAD4	psi-mi:“MI:0915”(physical association)	0.550
SMAD4	HNF1A	psi-mi:“MI:2364”(proximity)	0.550
HNF1A	SMAD4	psi-mi:“MI:2364”(proximity)	0.550
HNF1A	PROX1	psi-mi:“MI:0915”(physical association)	0.520
PROX1	HNF1A	psi-mi:“MI:0915”(physical association)	0.520
RNF14	HNF1A	psi-mi:“MI:0915”(physical association)	0.480
RNF14	HNF1A	psi-mi:“MI:0914”(association)	0.480
HNF1A	ctnnb1	psi-mi:“MI:0407”(direct interaction)	0.440
HNF1A	HSPA4L	psi-mi:“MI:0914”(association)	0.420
	HNF1A	psi-mi:“MI:0915”(physical association)	0.400
HNF1A		psi-mi:“MI:0915”(physical association)	0.400
Sp7	HNF1A	psi-mi:“MI:0915”(physical association)	0.400
HNF1A		psi-mi:“MI:0914”(association)	0.350
HNF1B	GFPT2	psi-mi:“MI:0914”(association)	0.350
	POLR3A	psi-mi:“MI:0914”(association)	0.350
HNF1A	WNT10A	psi-mi:“MI:0914”(association)	0.350
BCL6	CACNA1A	psi-mi:“MI:0914”(association)	0.350
HNF1A	KMT2D	psi-mi:“MI:2364”(proximity)	0.270
AKT1	HNF1A	psi-mi:“MI:2364”(proximity)	0.270
HNF1A	SPOP	psi-mi:“MI:2364”(proximity)	0.270
SPOP	HNF1A	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (98): HNF1A (Affinity Capture-Western), HNF1A (Affinity Capture-Western), NCOA1 (Reconstituted Complex), NCOA3 (Reconstituted Complex), HNF1A (Reconstituted Complex), PCBD1 (Affinity Capture-MS), PCBD2 (Affinity Capture-MS), CALM3 (Affinity Capture-MS), SNRPA1 (Affinity Capture-MS), RHPN2 (Affinity Capture-MS), HNF1B (Reconstituted Complex), HNF1A (Affinity Capture-Western), HNF1A (Affinity Capture-Western), CREBBP (Reconstituted Complex), KAT2B (Reconstituted Complex)

ESM2 similar proteins: A0A1L8FFY5, A1L0Z1, A1L1N5, A2BEA6, A4IFD2, O15409, O54826, P0CF24, P15257, P20823, P20912, P22361, P23899, P27889, P31362, P31363, P31364, P31365, P35680, P42571, P55197, P58462, P58463, P79745, Q03365, Q05041, Q2LE08, Q3BJS1, Q498D1, Q4QQQ7, Q4VYR7, Q4VYS1, Q561L5, Q58NQ4, Q5QL03, Q5RER5, Q5W1J5, Q6DJN3, Q8HZ00, Q8MJ97

Diamond homologs: A1L1N5, P15257, P20823, P22361, P23899, P27889, P35680, Q03365, Q05041, Q5RER5, Q8UW00, Q90867, Q91474, Q91739, Q91910

SIGNOR signaling

18 interactions.

A	Effect	B	Mechanism
ATM	up-regulates	HNF1A	phosphorylation
HNF1A	“up-regulates quantity by expression”	AKR1C4	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	IGF1	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	ALDOB	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	CDH17	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	UGT1A10	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	UGT1A8	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	UGT1A9	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	AFP	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	UGT1A1	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	SLC22A9	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	SLC22A10	“transcriptional regulation”
HNF1A	“up-regulates quantity by expression”	Aldolase	“transcriptional regulation”
HOXC11	up-regulates	HNF1A
DYRK1B	up-regulates	HNF1A	phosphorylation
HNF1A	“up-regulates quantity by expression”	SLCO1B3	“transcriptional regulation”

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 2 cancer types — HCC, PRCC.

Clinical variants and AI predictions

ClinVar

1142 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	192
Likely pathogenic	169
Uncertain significance	382
Likely benign	196
Benign	48

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1033090	NM_000545.8(HNF1A):c.58G>A (p.Gly20Arg)	Pathogenic
1256569	NM_000545.8(HNF1A):c.1080_1081dup (p.Ser361fs)	Pathogenic
1256571	NM_000545.8(HNF1A):c.1641_1642del (p.Glu548fs)	Pathogenic
1256576	NM_000545.8(HNF1A):c.576del (p.Asp192fs)	Pathogenic
129235	NM_000545.8(HNF1A):c.608G>A (p.Arg203His)	Pathogenic
1323060	NM_000545.8(HNF1A):c.1043dup (p.His349fs)	Pathogenic
1327593	NM_000545.8(HNF1A):c.319C>A (p.Leu107Ile)	Pathogenic
1327596	NM_000545.8(HNF1A):c.736G>T (p.Val246Leu)	Pathogenic
1327599	NM_000545.8(HNF1A):c.58G>C (p.Gly20Arg)	Pathogenic
1327606	NM_000545.8(HNF1A):c.427C>T (p.His143Tyr)	Pathogenic
1327620	NM_000545.8(HNF1A):c.425C>T (p.Ser142Phe)	Pathogenic
1327621	NM_000545.8(HNF1A):c.956-1G>T	Pathogenic
1328238	NM_000545.8(HNF1A):c.863_864insC (p.Pro289fs)	Pathogenic
1334144	NM_000545.8(HNF1A):c.709A>G (p.Asn237Asp)	Pathogenic
1334148	NM_000545.8(HNF1A):c.320T>G (p.Leu107Arg)	Pathogenic
1335121	NM_000545.8(HNF1A):c.819A>T (p.Lys273Asn)	Pathogenic
1338235	NM_000545.8(HNF1A):c.1147_1157del (p.Leu383fs)	Pathogenic
1338381	NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys)	Pathogenic
1338446	NM_000545.8(HNF1A):c.526+1G>C	Pathogenic
1338456	NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter)	Pathogenic
1338508	NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)	Pathogenic
1338520	NM_000545.8(HNF1A):c.326+1G>T	Pathogenic
1342949	NM_000545.8(HNF1A):c.2T>C (p.Met1Thr)	Pathogenic
1342951	NM_000545.8(HNF1A):c.17G>A (p.Ser6Asn)	Pathogenic
1365349	NM_000545.8(HNF1A):c.366C>A (p.Tyr122Ter)	Pathogenic
14927	NM_000545.8(HNF1A):c.872dup (p.Gly292fs)	Pathogenic
14928	NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu)	Pathogenic
14929	NM_000545.8(HNF1A):c.876del (p.Pro293fs)	Pathogenic
14931	NM_000545.8(HNF1A):c.815G>A (p.Arg272His)	Pathogenic
14933	NG_011731.2:g.4741A>C	Pathogenic

SpliceAI

1503 predictions. Top by Δscore:

Variant	Effect	Δscore
12:120979092:GCA:G	donor_gain	1.0000
12:120979095:G:GG	donor_gain	1.0000
12:120988827:TCCCA:T	acceptor_loss	1.0000
12:120988828:CCCA:C	acceptor_loss	1.0000
12:120988829:CCA:C	acceptor_loss	1.0000
12:120988830:CA:C	acceptor_loss	1.0000
12:120988830:CAGGG:C	acceptor_gain	1.0000
12:120988831:A:AG	acceptor_gain	1.0000
12:120988831:A:C	acceptor_loss	1.0000
12:120988831:AG:A	acceptor_gain	1.0000
12:120988831:AGGGA:A	acceptor_gain	1.0000
12:120988832:G:GA	acceptor_loss	1.0000
12:120988832:G:GG	acceptor_gain	1.0000
12:120988832:GG:G	acceptor_gain	1.0000
12:120988832:GGGA:G	acceptor_gain	1.0000
12:120988832:GGGAG:G	acceptor_gain	1.0000
12:120989028:GCAGC:G	donor_gain	1.0000
12:120989029:CAGC:C	donor_gain	1.0000
12:120989030:AGC:A	donor_gain	1.0000
12:120989031:GC:G	donor_gain	1.0000
12:120989031:GCG:G	donor_gain	1.0000
12:120989032:CG:C	donor_loss	1.0000
12:120989033:G:GG	donor_gain	1.0000
12:120989034:T:TG	donor_loss	1.0000
12:120989035:AAG:A	donor_loss	1.0000
12:120989037:G:GG	donor_gain	1.0000
12:120996257:TCCA:T	acceptor_loss	1.0000
12:120996259:CA:C	acceptor_loss	1.0000
12:120996261:GGT:G	acceptor_gain	1.0000
12:120996410:GCTG:G	donor_gain	1.0000

AlphaMissense

4076 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:120988862:T:A	V119D	1.000
12:120988874:T:C	L123P	1.000
12:120988882:C:G	H126D	1.000
12:120988896:G:C	Q130H	1.000
12:120988896:G:T	Q130H	1.000
12:120988907:T:A	V134D	1.000
12:120988922:T:A	L139H	1.000
12:120988922:T:C	L139P	1.000
12:120988924:A:G	N140D	1.000
12:120988926:C:A	N140K	1.000
12:120988926:C:G	N140K	1.000
12:120988929:G:C	Q141H	1.000
12:120988929:G:T	Q141H	1.000
12:120988931:C:T	S142F	1.000
12:120988933:C:A	H143N	1.000
12:120988933:C:G	H143D	1.000
12:120988934:A:G	H143R	1.000
12:120988935:C:A	H143Q	1.000
12:120988935:C:G	H143Q	1.000
12:120988937:T:A	L144Q	1.000
12:120988937:T:C	L144P	1.000
12:120988939:T:C	S145P	1.000
12:120988940:C:T	S145F	1.000
12:120988943:A:C	Q146P	1.000
12:120988944:A:C	Q146H	1.000
12:120988944:A:T	Q146H	1.000
12:120988945:C:G	H147D	1.000
12:120988946:A:C	H147P	1.000
12:120988946:A:G	H147R	1.000
12:120988947:C:A	H147Q	1.000

dbSNP variants (sampled 300 via entrez): RS1000123997 (12:121002255 G>A), RS1000199108 (12:120981907 G>C), RS1000316406 (12:120979884 T>C), RS1000347475 (12:120987870 T>C), RS1000425895 (12:120988412 T>C), RS1000446652 (12:120991653 A>C,G), RS1000651296 (12:120983311 G>A,T), RS1000717469 (12:120982115 G>A,T), RS1000729517 (12:120989489 A>C), RS1000759247 (12:120989828 G>A), RS1000954246 (12:120977667 AAC>A,AACAC), RS1001035045 (12:120991364 C>A,T), RS1001749496 (12:120983003 C>T), RS1001758189 (12:121001576 C>G), RS1001854457 (12:120978866 C>A,G,T)

Disease associations

OMIM: gene MIM:142410 | disease phenotypes: MIM:222100, MIM:125853, MIM:142330, MIM:144700, MIM:600496, MIM:612520, MIM:125850, MIM:606391, MIM:167000, MIM:188400, MIM:162200

GenCC curated gene-disease

Disease	Classification	Inheritance
monogenic diabetes	Definitive	Autosomal dominant
type 1 diabetes mellitus 20	Definitive	Autosomal dominant
diabetes mellitus, noninsulin-dependent	Strong	Autosomal dominant
maturity-onset diabetes of the young type 3	Strong	Autosomal dominant
hyperinsulinism due to HNF1A deficiency	Supportive	Autosomal dominant
maturity-onset diabetes of the young	Supportive	Autosomal dominant
nonpapillary renal cell carcinoma	No Known Disease Relationship	Unknown

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
monogenic diabetes	Definitive	AD

Mondo (19): type 1 diabetes mellitus (MONDO:0005147), type 2 diabetes mellitus (MONDO:0005148), hepatic adenomas, familial (MONDO:0007718), nonpapillary renal cell carcinoma (MONDO:0007763), maturity-onset diabetes of the young type 3 (MONDO:0010894), type 1 diabetes mellitus 20 (MONDO:0012919), maturity-onset diabetes of the young (MONDO:0018911), monogenic diabetes (MONDO:0015967), ovarian cancer (MONDO:0008170), clear cell renal carcinoma (MONDO:0005005), DiGeorge syndrome (MONDO:0008564), hyperinsulinism due to HNF1A deficiency (MONDO:0017935), chromophobe renal cell carcinoma (MONDO:0017885), neurofibromatosis type 1 (MONDO:0018975), breast carcinoma (MONDO:0004989)

Orphanet (11): Hereditary clear cell renal cell carcinoma (Orphanet:422526), MODY (Orphanet:552), Rare genetic diabetes mellitus (Orphanet:183625), Rare ovarian cancer (Orphanet:213500), Clear cell renal carcinoma (Orphanet:319276), 22q11.2 deletion syndrome (Orphanet:567), Hyperinsulinism due to HNF1A deficiency (Orphanet:324575), Chromophobe renal cell carcinoma (Orphanet:319303), Neurofibromatosis type 1 (Orphanet:636), Hereditary breast and/or ovarian cancer syndrome (Orphanet:145), NON RARE IN EUROPE: Diabetes mellitus type 1 (Orphanet:243377)

HPO phenotypes

70 total (30 of 70 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000077	Abnormality of the kidney
HP:0000103	Polyuria
HP:0000107	Renal cyst
HP:0000112	Nephropathy
HP:0000119	Abnormality of the genitourinary system
HP:0000147	Polycystic ovaries
HP:0000488	Retinopathy
HP:0000713	Agitation
HP:0000819	Diabetes mellitus
HP:0000825	Hyperinsulinemic hypoglycemia
HP:0000831	Insulin-resistant diabetes mellitus
HP:0000842	Hyperinsulinemia
HP:0000855	Insulin resistance
HP:0000956	Acanthosis nigricans
HP:0000980	Pallor
HP:0001069	Episodic hyperhidrosis
HP:0001254	Lethargy
HP:0001279	Syncope
HP:0001319	Neonatal hypotonia
HP:0001325	Hypoglycemic coma
HP:0001511	Intrauterine growth retardation
HP:0001513	Obesity
HP:0001518	Small for gestational age
HP:0001520	Large for gestational age
HP:0001649	Tachycardia
HP:0001738	Exocrine pancreatic insufficiency
HP:0001952	Glucose intolerance
HP:0001953	Diabetic ketoacidosis
HP:0001959	Polydipsia

GWAS associations

138 associations (top):

Study	Trait	p-value
GCST000178_3	C-reactive protein	7.000000e-17
GCST000179_3	C-reactive protein	2.000000e-08
GCST000248_11	Liver enzyme levels	2.000000e-10
GCST000287_10	LDL cholesterol	2.000000e-08
GCST000338_2	Coronary heart disease	5.000000e-07
GCST000430_2	C-reactive protein	1.000000e-30
GCST000712_16	Type 2 diabetes	2.000000e-08
GCST000759_21	LDL cholesterol	1.000000e-15
GCST000760_36	Cholesterol, total	1.000000e-14
GCST000785_5	Longevity	1.000000e-06
GCST000925_2	N-glycan levels	2.000000e-08
GCST000925_6	N-glycan levels	4.000000e-08
GCST000933_4	C-reactive protein	3.000000e-08
GCST000965_7	C-reactive protein levels	2.000000e-124
GCST001070_4	Type 2 diabetes	2.000000e-08
GCST001093_2	C-reactive protein	1.000000e-08
GCST001234_2	Gamma glutamyl transpeptidase	7.000000e-30
GCST001277_3	Liver enzyme levels (gamma-glutamyl transferase)	7.000000e-45
GCST001307_2	Gamma glutamyl transferase levels	2.000000e-18
GCST001605_6	C-reactive protein and white blood cell count	3.000000e-09
GCST001650_10	C-reactive protein	1.000000e-10
GCST001650_6	C-reactive protein	3.000000e-10
GCST001737_33	Chronic obstructive pulmonary disease-related biomarkers	1.000000e-06
GCST001791_7	Urate levels	8.000000e-08
GCST002086_3	C-reactive protein	4.000000e-12
GCST002087_12	Homocysteine levels	1.000000e-12
GCST002221_57	Cholesterol, total	4.000000e-17
GCST002222_28	LDL cholesterol	6.000000e-21
GCST002352_51	Type 2 diabetes	4.000000e-06
GCST002424_2	C-reactive protein levels	3.000000e-10

EFO canonical traits (19, from GWAS)

EFO ID	Trait name
EFO:0004458	C-reactive protein measurement
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement
EFO:0004999	N-glycan measurement
EFO:0004531	urate measurement
EFO:0004578	homocysteine measurement
EFO:0006796	very long-chain saturated fatty acid measurement
EFO:0008000	peak insulin response measurement
EFO:0006831	acute insulin response measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004329	alcohol drinking
EFO:0009961	Insulinogenic index measurement
EFO:0004344	birth weight
EFO:0004533	alkaline phosphatase measurement
EFO:0008137	galectin-3 measurement
EFO:0004509	hemoglobin measurement
EFO:0004615	apolipoprotein B measurement
EFO:0009101	age at first birth measurement

MeSH disease descriptors (12)

Descriptor	Name	Tree numbers
D004062	DiGeorge Syndrome	C05.660.207.103.500; C14.240.400.021.500; C14.280.400.044.500; C15.604.451.249.500; C16.131.077.019.500; C16.131.240.400.021.500; C16.131.260.019.500; C16.131.482.249.500; C16.131.621.207.103.500; C16.320.180.019.500; C19.642.482.500.500
D003920	Diabetes Mellitus	C18.452.394.750; C19.246
D003922	Diabetes Mellitus, Type 1	C18.452.394.750.124; C19.246.267; C20.111.327
D003924	Diabetes Mellitus, Type 2	C18.452.394.750.149; C19.246.300
D061325	Hereditary Breast and Ovarian Cancer Syndrome	C04.588.180.483; C04.588.322.455.431; C04.700.517; C12.050.351.500.056.630.705.431; C12.050.351.937.418.685.431; C12.100.250.056.630.705.431; C12.900.418.685.431; C16.320.700.517; C17.800.090.500.483; C19.344.410.431; C19.391.630.705.431
D009456	Neurofibromatosis 1	C04.557.580.600.580.590.650; C04.700.631.650; C10.562.600.500; C10.574.500.549.400; C10.668.829.675; C16.320.400.560.400; C16.320.700.633.650
D010051	Ovarian Neoplasms	C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705
C567286	Diabetes Mellitus, Insulin-Dependent, 20 (supp.)
C564190	Hepatic Adenomas, Familial (supp.)
C562772	Mason-Type Diabetes (supp.)
C565101	Maturity-Onset Diabetes of the Young, Type 1 (supp.)
C563933	Maturity-Onset Diabetes of the Young, Type 3 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066477 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB variants

2 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1169288	HNF1A		0.00	0
rs2464196	HNF1A		0.00	0

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects binding, increases reaction, decreases expression	3
Acetaminophen	decreases expression, increases reaction, decreases reaction	3
perfluorooctanoic acid	decreases activity, decreases expression	2
oltipraz	decreases expression, decreases reaction	2
N-acetylsphingosine	decreases expression, increases reaction	2
Benzo(a)pyrene	affects methylation, decreases expression, decreases methylation	2
Aflatoxin B1	decreases expression, decreases methylation	2
thymoquinone	decreases expression	1
urushiol	decreases expression	1
propionaldehyde	decreases expression	1
butyraldehyde	decreases expression	1
baicalin	increases reaction, affects binding, decreases reaction, decreases expression, decreases secretion	1
isolariciresinol	decreases expression	1
salvianolic acid B	decreases reaction, decreases expression	1
6-formylindolo(3,2-b)carbazole	decreases reaction, increases expression	1
K 7174	decreases expression	1
pyrazolanthrone	decreases expression, decreases reaction	1
prothioconazole	decreases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	increases expression	1
Decitabine	increases expression, increases reaction	1
Ethanol	decreases expression, decreases reaction	1
Azacitidine	decreases methylation, increases expression, decreases reaction	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Carmustine	decreases expression	1
Cisplatin	decreases expression	1
Dexamethasone	increases reaction, affects cotreatment, affects binding	1
Diclofenac	affects expression	1
Fluorouracil	affects expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5526095	Binding	Binding affinity to HNF1alpha in human HepG2 cells assessed as increase in thermal stability at 10 uM after 1 hr by CETSA	Novel Jatrophane Diterpenoids from Euphorbia esula Promotes Lipid Clearance by Transcriptional Regulation of PCSK9. — J Med Chem

Cellosaurus cell lines

26 cell lines: 20 cancer cell line, 3 embryonic stem cell, 3 induced pluripotent stem cell

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_0179	BT-474	Cancer cell line	Female
CVCL_4V65	BT474-5FU[r]	Cancer cell line	Female
CVCL_4Y08	BT-474/CMV-Luc	Cancer cell line	Female
CVCL_A2GH	LR-BT474	Cancer cell line	Female
CVCL_A2U6	SEES3-1V human HNF1A, clone1	Embryonic stem cell	Male
CVCL_A2U7	SEES3-1V human HNF1A, clone2	Embryonic stem cell	Male
CVCL_A2U8	SEES3-1V human HNF1A, clone3	Embryonic stem cell	Male
CVCL_A4AK	BT-474 Tam2	Cancer cell line	Female
CVCL_A4CL	BT-474 Ecadherin EmGFP	Cancer cell line	Female
CVCL_AQ07	BT-474 Clone 5	Cancer cell line	Female

Clinical trials (associated diseases)

599 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04239586	PHASE4	UNKNOWN	Switching From Insulin to Sulfonylurea in Diabetes Associated With Variants in MODY Genes
NCT00414765	PHASE4	COMPLETED	Aldesleukin in Participants With Metastatic Renal Cell Carcinoma or Metastatic Melanoma
NCT00777504	PHASE4	UNKNOWN	Study to the Optimal Duration of Therapy With Oral Angiogenesis Inhibitors
NCT00930345	PHASE4	TERMINATED	Biological, Pathological and Imagery Markers in the First-line Treatment of Metastatic Clear-cell Renal Cell Carcinoma
NCT01206764	PHASE4	COMPLETED	A Trial of Everolimis in Patients With Advanced Renal Cell Carcinoma.
NCT01266837	PHASE4	COMPLETED	Open Label, Single Arm Trial to Characterize Patients With Metastatic RCC Treated With Everolimus After Failure of the First VEGF-targeted Therapy (MARC-2)
NCT02056587	PHASE4	COMPLETED	Everolimus in Patients With Metastatic Renal Cell Carcinoma Following Progression on Prior Bevacizumab Treatment
NCT02338570	PHASE4	TERMINATED	Outcome-related Factors in Patients With Metastatic Renal Cell Carcinoma Treated With Everolimus (ORCHIDEE)
NCT02596035	PHASE4	COMPLETED	An Investigational Immuno-therapy Safety Trial of Nivolumab in Patients With Advanced or Metastatic Renal Cell Carcinoma
NCT02982954	PHASE4	COMPLETED	A Study to Evaluate the Safety of Nivolumab and Ipilimumab in Subjects With Previously Untreated Advanced or Metastatic Renal Cell Cancer
NCT05949424	PHASE4	UNKNOWN	OPTI - DOSE: Optimal Dosing of Oral Anticancer Drugs in Older Adults
NCT07028125	PHASE4	RECRUITING	Digital Monitoring of Self-reported Symptoms by Patients Treated With Cabozantinib Plus Nivolumab for Advanced Clear-cell Renal Carcinoma
NCT07405086	PHASE4	RECRUITING	Morning Versus Afternoon Administration of Immunotherapy for the Treatment of Advanced or Metastatic Solid Tumors, The Knight SHIFT Study
NCT00145353	PHASE4	UNKNOWN	Insulin NovoRapid Versus Actrapid in Treatment of Type 1 Diabetic Patients During Daily Adjustment of Insulin Dose
NCT00145379	PHASE4	COMPLETED	The Effect of Metformin in Overweight Patients With Dysregulated Type 1 Diabetes Mellitus
NCT00206401	PHASE4	COMPLETED	Lantus in the Treatment of Type 1 Diabetes Children
NCT00276393	PHASE4	COMPLETED	Treatment Trial Evaluating Long Acting Insulin in Type 1 Diabetes
NCT00291772	PHASE4	COMPLETED	Continuous Subcutaneous Infusion of Pramlintide and Insulin
NCT00315952	PHASE4	COMPLETED	Study to Estimate the Effects of Inhaled Versus Intravenous (IV) Infusion of Human Insulin in Subjects With Type 1 Diabetes
NCT00340613	PHASE4	COMPLETED	Lunch Time Insulin Injection by School Nurse for Poorly Controlled Diabetes
NCT00346996	PHASE4	COMPLETED	Insulin Analogues and Severe Hypoglycaemia
NCT00360984	PHASE4	COMPLETED	Prevention of Severe Hypoglycemia in Type 1 Diabetes
NCT00372086	PHASE4	COMPLETED	Rosiglitazone and Insulin in T1DM Adolescents
NCT00442767	PHASE4	COMPLETED	Post-meal Insulin Dosing With Adjuvant Pre-meal Pramlintide in Children With Type 1 Diabetes Mellitus
NCT00453934	PHASE4	TERMINATED	Patient Preference of h-Patch vs. Pen or Needle/Syringe as Insulin Administration Device
NCT00461331	PHASE4	COMPLETED	Comparison of Insulins Aspart and Lispro in Insulin Pumps
NCT00472875	PHASE4	UNKNOWN	Do Sulphonylureas Preserve Cortical Function During Hypoglycaemia?
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NCT00542399	PHASE4	COMPLETED	Comparing the Metabolic Control of Once to Twice-daily Insulin Detemir Injections
NCT00564395	PHASE4	COMPLETED	Detemir: Role in Type 1 Diabetes
NCT00814476	PHASE4	COMPLETED	The Effects of Regular Home Use Vs Diabetic Team- Supported Use of the Medtronic CareLink Therapy Management System.
NCT00898534	PHASE4	COMPLETED	Effect of Immediate Hemoglobin A1c on Glycemic Control in Children With Type I Diabetes Mellitus
NCT00913497	PHASE4	COMPLETED	The Effect of Insulin Glulisine Compared With Insulin Aspart on Breakfast Post Prandial Glucose Levels in Prepubertal Children
NCT00978796	PHASE4	COMPLETED	Assessing Glucose Effects of Sitagliptin (Januvia) in Adult Patients With Type 1 Diabetes
NCT01019486	PHASE4	COMPLETED	Regadenoson Blood Flow in Type 1 Diabetes (RABIT1D)
NCT01235819	PHASE4	COMPLETED	Comparison Between GLP 1 Analogues and DPP 4 Inhibitors in Type 1 Diabetes Mellitus
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