TFCP2L1

Summary

TFCP2L1 (transcription factor CP2 like 1, HGNC:17925) is a protein-coding gene on chromosome 2q14.2, encoding Transcription factor CP2-like protein 1 (Q9NZI6). Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs).

Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus.

Source: NCBI Gene 29842 — RefSeq curated summary.

At a glance

• GWAS associations: 22
• Clinical variants (ClinVar): 64 total — 1 likely-pathogenic
• MANE Select transcript: NM_014553

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17925
Approved symbol	TFCP2L1
Name	transcription factor CP2 like 1
Location	2q14.2
Locus type	gene with protein product
Status	Approved
Aliases	LBP-9, CRTR1
Ensembl gene	ENSG00000115112
Ensembl biotype	protein_coding
OMIM	609785
Entrez	29842

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000263707, ENST00000464621, ENST00000879577, ENST00000879578, ENST00000879579, ENST00000879580, ENST00000879581

RefSeq mRNA: 1 — MANE Select: NM_014553 NM_014553

CCDS: CCDS2134

Canonical transcript exons

ENST00000263707 — 15 exons

Exon	Start	End
ENSE00000775403	121237802	121237850
ENSE00001071543	121216587	121224387
ENSE00001202122	121234091	121234194
ENSE00001202125	121235221	121235311
ENSE00001202128	121237623	121237716
ENSE00001202134	121239558	121239649
ENSE00001202143	121248982	121249087
ENSE00001202151	121249571	121249647
ENSE00001202154	121281120	121281271
ENSE00001306521	121285048	121285202
ENSE00001670864	121248164	121248270
ENSE00001745093	121246818	121246970
ENSE00001783149	121242359	121242469
ENSE00003563837	121225562	121225613
ENSE00003680210	121231826	121231968

Expression profiles

Bgee: expression breadth ubiquitous, 209 present calls, max score 97.90.

FANTOM5 (CAGE): breadth broad, TPM avg 3.4257 / max 472.7551, expressed in 478 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
30448	3.4257	478

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	97.90	gold quality
saliva-secreting gland	UBERON:0001044	94.67	gold quality
minor salivary gland	UBERON:0001830	93.94	gold quality
metanephros cortex	UBERON:0010533	93.65	gold quality
renal medulla	UBERON:0000362	93.62	gold quality
adult mammalian kidney	UBERON:0000082	93.23	gold quality
nasal cavity epithelium	UBERON:0005384	92.77	gold quality
right lobe of thyroid gland	UBERON:0001119	91.95	gold quality
buccal mucosa cell	CL:0002336	91.29	gold quality
mouth mucosa	UBERON:0003729	91.19	gold quality
left lobe of thyroid gland	UBERON:0001120	91.15	gold quality
nasal cavity mucosa	UBERON:0001826	91.15	gold quality
thyroid gland	UBERON:0002046	90.32	gold quality
upper leg skin	UBERON:0004262	89.94	gold quality
rectum	UBERON:0001052	88.58	gold quality
skin of leg	UBERON:0001511	88.27	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	87.95	gold quality
colonic mucosa	UBERON:0000317	87.90	gold quality
mucosa of transverse colon	UBERON:0004991	87.56	gold quality
kidney	UBERON:0002113	87.31	gold quality
skin of abdomen	UBERON:0001416	86.92	gold quality
mucosa of sigmoid colon	UBERON:0004993	86.52	gold quality
mucosa of paranasal sinus	UBERON:0005030	85.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.76	gold quality
zone of skin	UBERON:0000014	85.64	gold quality
skin of hip	UBERON:0001554	85.28	gold quality
ileal mucosa	UBERON:0000331	82.43	silver quality
corpus epididymis	UBERON:0004359	82.03	gold quality
lower esophagus mucosa	UBERON:0035834	81.77	gold quality
transverse colon	UBERON:0001157	81.06	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 6.

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	214.55
E-CURD-114	yes	33.47
E-CURD-119	yes	22.60
E-HCAD-1	yes	21.86
E-HCAD-10	yes	13.67
E-ANND-3	no	0.00

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

3 targets.

Target	Regulation
CYP11A1	Unknown
GRHL1	Activation
KDM3A

miRNA regulators (miRDB)

346 targeting TFCP2L1, 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-3689D	100.00	66.14	1181
HSA-MIR-6851-5P	100.00	65.63	1294
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-4713-3P	100.00	65.92	505
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-12136	99.98	72.81	5713

Literature-anchored findings (GeneRIF, showing 11)

• LBP-1b is an important SF1-independent transcriptional activator stimulating P450scc expression in human placental JEG-3 cells, whereas LBP-9 modulates the action of LBP-1b, exerting both positive and negative effects (PMID:15471945)
• LBP-1b and LBP-9 both stimulate LBP-32/MGR promoter activity. (PMID:18004979)
• Study show that CRTR-1 is generally an activator of transcription and that it modulates the activity of other family members, CP2, NF2d9 and altNF2d9, in a cell specific manner. (PMID:20661472)
• these findings reveal the unique and crucial role of Tfcp2l1 in the determination of human embryonic stem cell fate. (PMID:29323720)
• Studies reveal that TFCP2, TFCP2L1, UBP1 belong to a transcription factors subfamily and involved in various aspects of cancer types and development as either proto-oncogenes or tumor suppressors. They can directly interact with each other; TFCP2, TFCP2L1 and UBP1 can form heteromeric DNA-binding complexes. In addition, TFCP2L1 can modulate the activity of TFCP2 and UBP1. [review] (PMID:29410248)
• These findings indicate that TFCP2L1 functions differently in naive and primed pluripotency, insights that may help elucidate the different states of pluripotency. (PMID:30782842)
• Phosphorylation of TFCP2L1 by CDK1 is required for stem cell pluripotency and bladder carcinogenesis. (PMID:31709755)
• Divergent roles for KLF4 and TFCP2L1 in naive ground state pluripotency and human primordial germ cell development. (PMID:34399163)
• The transcription factor Tfcp2l1 promotes primordial germ cell-like cell specification of pluripotent stem cells. (PMID:34555410)
• The Transcription Factor TFCP2L1 is Associated with Myelination via miR708-5p Regulation in the Peripheral Nerve System. (PMID:34581937)
• SMARCB1 regulates a TFCP2L1-MYC transcriptional switch promoting renal medullary carcinoma transformation and ferroptosis resistance. (PMID:37236926)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tfcp2l1	ENSDARG00000029497
mus_musculus	Tfcp2l1	ENSMUSG00000026380
rattus_norvegicus	Tfcp2l1	ENSRNOG00000002414
drosophila_melanogaster	gem	FBGN0050011
caenorhabditis_elegans	grh-1	WBGENE00001707

Paralogs (5): GRHL2 (ENSG00000083307), GRHL1 (ENSG00000134317), TFCP2 (ENSG00000135457), UBP1 (ENSG00000153560), GRHL3 (ENSG00000158055)

Protein

Protein identifiers

Transcription factor CP2-like protein 1 — Q9NZI6 (reviewed: Q9NZI6)

Alternative names: CP2-related transcriptional repressor 1, Transcription factor LBP-9

All UniProt accessions (1): Q9NZI6

UniProt curated annotations — full annotation on UniProt →

Function. Transcription factor that facilitates establishment and maintenance of pluripotency in embryonic stem cells (ESCs). With KLF2, acts as the major effector of self-renewal that mediates induction of pluripotency downstream of LIF/STAT3 and Wnt/beta-catenin signaling. Required for normal duct development in the salivary gland and kidney. Coordinates the development of the kidney collecting ducts intercalated (IC) and principal (PC) cells, which regulate acid-base and salt-water homeostasis, respectively. Regulates the expression of IC genes including subunits B1 and D2 of the V-ATPase complex, OXGR1, CA12, SLC4A1, AQP6 and IC-specific transcription factor FOXI1. Also regulates the expression of JAG1 and subsequent notch signaling in the collecting duct. JAG1 initiates notch signaling in PCs but inhibits notch signaling in ICs. Acts as a transcriptional suppressor that may suppress UBP1-mediated transcriptional activation. Modulates the placental expression of CYP11A1.

Subunit / interactions. Forms homohexamers via its SAM-like domain. Interacts with MTA1; which is indispensable for TFCP2l1-mediated self-renewal-promoting effect and endoderm-inhibiting action.

Subcellular location. Nucleus.

Tissue specificity. Highly expressed in placental JEG-3 cells and very low levels of expression in non-steroidogenic cells. No expression was seen in adrenal NCI-H295A cells or in adrenal tissue.

Domain organisation. The Grh/CP2 DB domain is required for direct DNA-binding. The Grh/CP2 DB domain is essential to maintain the undifferentiated state of embryonic stem cells. The SAM-like domain is required for homohexamerization.

Similarity. Belongs to the grh/CP2 family. CP2 subfamily.

RefSeq proteins (1): NP_055368* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007604	CP2	Domain
IPR013761	SAM/pointed_sf	Homologous_superfamily
IPR037598	TFCP2L1_SAM	Domain
IPR040167	TF_CP2-like	Family
IPR041418	SAM_3	Domain
IPR057520	GRHL1/CP2_C	Domain

Pfam: PF04516, PF18016, PF25416

UniProt features (8 total): region of interest 3, compositionally biased region 2, chain 1, domain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NZI6-F1	79.32	0.58

Functional residue map

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

Mutagenesis-validated functional residues (1):

Position	Phenotype
345	impairs the formation of oligomeric homo-complexes in solution.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 187 (showing top): LIANG_HEMATOPOIESIS_STEM_CELL_NUMBER_SMALL_VS_HUGE_UP, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_EPITHELIAL_CELL_DEVELOPMENT, GOBP_SALIVARY_GLAND_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_GROWTH, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_1, GTGCCTT_MIR506, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, MCBRYAN_PUBERTAL_BREAST_3_4WK_UP, GOBP_EXOCRINE_SYSTEM_DEVELOPMENT, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, BENPORATH_ES_CORE_NINE_CORRELATED

GO Biological Process (9): negative regulation of transcription by RNA polymerase II (GO:0000122), cell morphogenesis (GO:0000902), epithelial cell maturation (GO:0002070), regulation of transcription by RNA polymerase II (GO:0006357), cytoplasm organization (GO:0007028), salivary gland development (GO:0007431), determination of adult lifespan (GO:0008340), positive regulation of growth (GO:0045927), positive regulation of transcription by RNA polymerase II (GO:0045944)

GO Molecular Function (8): 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), sequence-specific double-stranded DNA binding (GO:1990837), transcription cis-regulatory region binding (GO:0000976), RNA polymerase II transcription regulatory region sequence-specific DNA binding (GO:0000977), DNA binding (GO:0003677), DNA-binding transcription factor activity (GO:0003700)

GO Cellular Component (4): chromatin (GO:0000785), nucleus (GO:0005634), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of transcription by RNA polymerase II	3
transcription by RNA polymerase II	3
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
cellular anatomical structure	3
regulation of DNA-templated transcription	2
transcription cis-regulatory region binding	2
negative regulation of DNA-templated transcription	1
anatomical structure morphogenesis	1
epithelial cell development	1
cell maturation	1
cellular component organization	1
exocrine system development	1
gland development	1
multicellular organismal process	1
growth	1
regulation of growth	1
positive regulation of biological process	1
positive regulation of DNA-templated transcription	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
positive regulation of transcription by RNA polymerase II	1
double-stranded DNA binding	1
sequence-specific DNA binding	1
transcription regulatory region nucleic acid binding	1
sequence-specific double-stranded DNA binding	1
nucleic acid binding	1
transcription regulator activity	1
chromosome	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1080 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TFCP2L1	ESRRB	O95718	791
TFCP2L1	CYP11A1	P05108	754
TFCP2L1	TET2	Q6N021	656
TFCP2L1	PRDM14	Q9GZV8	656
TFCP2L1	KLF17	Q5JT82	652
TFCP2L1	KLF4	P78338	650
TFCP2L1	NANOG	Q9H9S0	641
TFCP2L1	TBX3	O15119	635
TFCP2L1	ZFP42	Q96MM3	624
TFCP2L1	KLF2	Q9Y5W3	615
TFCP2L1	POU5F1	P31359	612
TFCP2L1	DPPA3	Q6W0C5	594
TFCP2L1	NR0B1	P51843	584
TFCP2L1	SALL4	Q9UJQ4	574
TFCP2L1	SOX2	P48431	553

IntAct

8 interactions, top by confidence:

A	B	Type	Score
HSPB8	VWA8	psi-mi:“MI:0914”(association)	0.530
TFCP2L1	TFCP2L1	psi-mi:“MI:0915”(physical association)	0.370
CFAP20	TFCP2L1	psi-mi:“MI:0915”(physical association)	0.370
TFCP2	IP6K1	psi-mi:“MI:0914”(association)	0.350
	ARID1A	psi-mi:“MI:0914”(association)	0.350
TFCP2	CNP	psi-mi:“MI:0914”(association)	0.350
UBP1	PTPN5	psi-mi:“MI:0914”(association)	0.350

BioGRID (12): TFCP2L1 (Affinity Capture-MS), TFCP2L1 (Affinity Capture-MS), TFCP2L1 (Affinity Capture-MS), TFCP2L1 (Affinity Capture-MS), TFCP2L1 (Affinity Capture-MS), TFCP2L1 (Affinity Capture-MS), TFCP2 (Cross-Linking-MS (XL-MS)), TFCP2L1 (Proximity Label-MS), TFCP2L1 (Proximity Label-MS), TFCP2L1 (Affinity Capture-MS), TFCP2L1 (Co-fractionation), TFCP2L1 (Two-hybrid)

ESM2 similar proteins: A0A0G2JTR4, A0A2R8QFQ6, A0JM95, A4IFE4, A6QNS3, C1C3R6, D3Z649, D4ABL6, E9PV86, F1QH17, G3MWR8, O46404, Q0VAM2, Q12800, Q12979, Q13507, Q28EC1, Q3ULA2, Q3UNW5, Q4V860, Q5R6F2, Q5RB16, Q5RC04, Q5SSL4, Q5VWJ9, Q5ZLX4, Q63789, Q64143, Q6DHR3, Q6NZH6, Q6UVM3, Q6UVM4, Q6ZPR4, Q7RTP6, Q7T2U9, Q7Z6J6, Q8CE50, Q8CJ19, Q8JZL7, Q8N431

Diamond homologs: G5EDF0, P13002, Q12800, Q3UNW5, Q4V860, Q5EY87, Q5FWH3, Q5M7R9, Q5PPL8, Q5RAR8, Q5RB16, Q6GL65, Q6ISB3, Q6NZH6, Q7T2U9, Q811S7, Q8K5C0, Q8TE85, Q921D9, Q9ERA0, Q9NZI5, Q9NZI6, Q9NZI7

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CDK1	“up-regulates activity”	TFCP2L1	phosphorylation

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	48
Likely benign	0
Benign	4

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1344815	NM_014553.3(TFCP2L1):c.689del (p.Asp230fs)	Likely pathogenic

SpliceAI

3208 predictions. Top by Δscore:

Variant	Effect	Δscore
2:121231965:TACA:T	acceptor_gain	1.0000
2:121231966:ACA:A	acceptor_gain	1.0000
2:121231967:CA:C	acceptor_gain	1.0000
2:121231967:CAC:C	acceptor_gain	1.0000
2:121231969:C:CC	acceptor_gain	1.0000
2:121234086:CTCA:C	donor_loss	1.0000
2:121234087:TCACC:T	donor_loss	1.0000
2:121234088:CA:C	donor_loss	1.0000
2:121234089:A:AC	donor_gain	1.0000
2:121234090:C:CA	donor_gain	1.0000
2:121234090:C:G	donor_loss	1.0000
2:121234090:CCAG:C	donor_gain	1.0000
2:121234090:CCAGA:C	donor_gain	1.0000
2:121234190:CATTC:C	acceptor_gain	1.0000
2:121234192:TTC:T	acceptor_gain	1.0000
2:121234192:TTCC:T	acceptor_loss	1.0000
2:121234193:TC:T	acceptor_gain	1.0000
2:121234193:TCCT:T	acceptor_loss	1.0000
2:121234194:CC:C	acceptor_gain	1.0000
2:121234195:C:CA	acceptor_loss	1.0000
2:121234195:C:CC	acceptor_gain	1.0000
2:121234196:T:C	acceptor_loss	1.0000
2:121234199:C:CT	acceptor_gain	1.0000
2:121234200:A:T	acceptor_gain	1.0000
2:121235217:CTA:C	donor_loss	1.0000
2:121235219:A:AC	donor_gain	1.0000
2:121235219:ACCGG:A	donor_gain	1.0000
2:121235220:C:CT	donor_gain	1.0000
2:121235220:CCGG:C	donor_gain	1.0000
2:121235220:CCGGC:C	donor_gain	1.0000

AlphaMissense

3153 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:121235242:A:G	L358P	1.000
2:121235251:C:T	G355E	1.000
2:121235252:C:A	G355W	1.000
2:121235252:C:G	G355R	1.000
2:121235252:C:T	G355R	1.000
2:121242439:C:G	D230H	1.000
2:121242449:T:A	K226N	1.000
2:121242449:T:G	K226N	1.000
2:121242450:T:A	K226I	1.000
2:121242451:T:C	K226E	1.000
2:121242451:T:G	K226Q	1.000
2:121242453:C:A	R225L	1.000
2:121242453:C:G	R225P	1.000
2:121242453:C:T	R225Q	1.000
2:121242454:G:A	R225W	1.000
2:121242454:G:C	R225G	1.000
2:121242459:G:T	A223D	1.000
2:121242462:C:A	G222V	1.000
2:121242462:C:T	G222E	1.000
2:121242463:C:G	G222R	1.000
2:121242463:C:T	G222R	1.000
2:121242464:C:A	K221N	1.000
2:121242464:C:G	K221N	1.000
2:121242466:T:C	K221E	1.000
2:121246818:C:A	K219N	1.000
2:121246818:C:G	K219N	1.000
2:121246820:T:C	K219E	1.000
2:121246821:G:C	F218L	1.000
2:121246821:G:T	F218L	1.000
2:121246822:A:C	F218C	1.000

dbSNP variants (sampled 300 via entrez): RS1000102098 (2:121240832 C>T), RS1000149142 (2:121230335 C>A), RS1000262849 (2:121235927 C>G), RS1000297179 (2:121271118 A>C), RS1000329722 (2:121277958 T>C), RS1000344866 (2:121246516 C>T), RS1000352696 (2:121224081 G>A,C), RS1000396096 (2:121277554 A>T), RS1000460733 (2:121238305 G>A,C), RS1000501932 (2:121254006 G>A), RS1000530726 (2:121216136 T>C), RS1000550282 (2:121217769 G>C), RS1000578042 (2:121259638 G>C), RS1000605172 (2:121268161 T>C), RS1000696695 (2:121235739 CAT>C)

Disease associations

OMIM: gene MIM:609785 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): chronic kidney disease (MONDO:0005300)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

22 associations (top):

Study	Trait	p-value
GCST001768_1	Behcet’s disease	5.000000e-09
GCST002875_13	Diisocyanate-induced asthma	4.000000e-06
GCST004601_34	Red blood cell count	6.000000e-11
GCST004604_79	Hematocrit	1.000000e-12
GCST004615_5	Hemoglobin concentration	1.000000e-11
GCST004713_1	Testicular germ cell tumor	2.000000e-08
GCST005984_5	Glomerular filtration rate	2.000000e-13
GCST005985_6	Creatinine levels	2.000000e-13
GCST005986_4	Blood urea nitrogen levels	4.000000e-10
GCST006624_7	Systolic blood pressure	2.000000e-11
GCST007267_199	Systolic blood pressure	3.000000e-08
GCST008058_92	Estimated glomerular filtration rate	2.000000e-20
GCST008059_85	Estimated glomerular filtration rate	6.000000e-20
GCST008062_80	Blood urea nitrogen levels	7.000000e-13
GCST008064_18	Chronic kidney disease	3.000000e-06
GCST008971_67	Urate levels	1.000000e-07
GCST008972_42	Urate levels	1.000000e-09
GCST010083_175	Hemoglobin levels	4.000000e-23
GCST012053_4	Weight	7.000000e-09
GCST90002383_187	Hematocrit	4.000000e-25
GCST90002384_232	Hemoglobin	1.000000e-23
GCST90002403_117	Red blood cell count	3.000000e-19

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0006995	response to diisocyanate
EFO:0004305	erythrocyte count
EFO:0004348	hematocrit
EFO:0004509	hemoglobin measurement
EFO:0006335	systolic blood pressure
EFO:0004531	urate measurement
EFO:0004338	body weight

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007676	Kidney Failure, Chronic	C12.050.351.968.419.780.750.500; C12.200.777.419.780.750.500; C12.950.419.780.750.500; C23.550.291.500.906.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, affects cotreatment	4
sodium arsenite	decreases expression, increases expression	2
entinostat	increases expression, affects cotreatment	2
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	affects methylation, increases methylation	2
Nickel	decreases expression	2
Silicon Dioxide	decreases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	increases expression	1
propionaldehyde	increases expression	1
bisphenol A	decreases methylation	1
deoxynivalenol	decreases expression	1
glycidyl methacrylate	increases expression	1
lead acetate	decreases expression	1
trichostatin A	increases expression	1
butyraldehyde	increases expression	1
cupric chloride	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dimethylarsinous acid	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Zoledronic Acid	decreases expression	1
Ethanol	increases expression	1
Calcitriol	increases expression	1
Copper	affects cotreatment, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Estradiol	increases expression	1
Progesterone	decreases expression	1

Cellosaurus cell lines

5 cell lines: 5 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A7H6	SEES3-1V human TFCP2L1, clone1	Embryonic stem cell	Male
CVCL_A7H7	SEES3-1V human TFCP2L1, clone2	Embryonic stem cell	Male
CVCL_A7H8	SEES3-1V human TFCP2L1, clone3	Embryonic stem cell	Male
CVCL_A7H9	SEES3-1V human TFCP2L1, clone4	Embryonic stem cell	Male
CVCL_A7I0	SEES3-1V human TFCP2L1, clone5	Embryonic stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00073710	PHASE4	COMPLETED	Study to Evaluate the Effects of Zemplar Injection and Calcijex on Intestinal Absorption of Calcium
NCT00125593	PHASE4	COMPLETED	Study of Heart and Renal Protection
NCT00132431	PHASE4	COMPLETED	START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism
NCT00155246	PHASE4	COMPLETED	Efficacy of Pentoxifylline on Chronic Kidney Disease
NCT00175149	PHASE4	TERMINATED	Active Vitamin D Effect on Left Ventricular Hypertrophy
NCT00184769	PHASE4	COMPLETED	Growth Hormone Treatment in Infants Aged 1 to 2 Years With Chronic Renal Insufficiency (CRI) and Growth Retardation.
NCT00190580	PHASE4	COMPLETED	Kanagawa Valsartan Trial (KVT): Effects of Valsartan on Renal and Cardiovascular Disease
NCT00194961	PHASE4	TERMINATED	Effect of Growth Hormone on Leptin, Cytokines and Body Composition of Children With Growth Failure Due to Chronic Kidney Disease
NCT00239642	PHASE4	COMPLETED	Safety and Efficacy of Iron Sucrose in Children
NCT00324571	PHASE4	COMPLETED	Dialysis Clinical Outcomes Revisited (DCOR) Trial
NCT00364884	PHASE4	UNKNOWN	Keto-/Amino Acid Supplemented Low Protein Diet in Patients With Chronic Kidney Disease
NCT00368901	PHASE4	COMPLETED	STAAR-2 Clinical Study
NCT00369733	PHASE4	COMPLETED	STAAR-3 Clinical Study
NCT00369772	PHASE4	COMPLETED	STAAR-1 Clinical Study
NCT00379899	PHASE4	COMPLETED	ADVANCE: Study to Evaluate Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease Receiving Hemodialysis
NCT00384618	PHASE4	TERMINATED	Anti-Oxidant Therapy In Chronic Renal Insufficiency (ATIC) Study
NCT00478543	PHASE4	COMPLETED	Loop Diuretics in Chronic Kidney Disease
NCT00632125	PHASE4	COMPLETED	Post-authorization Safety Study in CKD Subjects Receiving HX575 i.v.
NCT00644046	PHASE4	COMPLETED	Chronic Kidney Disease Prevention of An-Lo District, Keelung
NCT00719316	PHASE4	UNKNOWN	Aliskiren and Muscle Sympathetic Nerve Activity
NCT00725517	PHASE4	COMPLETED	Efficacy and Safety of a 7.5% Icodextrin Peritoneal Dialysis Solution in Once-Daily Long Dwell Exchange
NCT00741585	PHASE4	COMPLETED	Prognostic Value of the Circadian Pattern of Ambulatory Blood Pressure for Multiple Risk Assessment
NCT00749736	PHASE4	COMPLETED	The Role of Vitamin D in Immune Function in Patients With Chronic Kidney Disease (CKD) Stages 3 and 4.
NCT00752102	PHASE4	COMPLETED	Vitamin D and Coronary Calcification Study
NCT00756145	PHASE4	COMPLETED	The Use of Low Molecular Weight Heparin in Hemodiafiltration
NCT00768638	PHASE4	COMPLETED	Study of Atorvastatin Dose Dependent Reduction of Proteinuria
NCT00786136	PHASE4	COMPLETED	Rosuvastatin Prevent Contrast Induced Acute Kidney Injury in Patients With Diabetes
NCT00803712	PHASE4	COMPLETED	20070360 Incident Dialysis
NCT00812123	PHASE4	COMPLETED	Calcineurin Free Immunosuppression in Renal Transplant Recipients
NCT00823303	PHASE4	COMPLETED	Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3/4 Chronic Kidney Disease (CKD) With Secondary Hyperparathyroidism (SHPT)
NCT00830037	PHASE4	TERMINATED	A Clinical Trial of Oral Versus IV Iron in Patients With Chronic Kidney Disease
NCT00852969	PHASE4	COMPLETED	Niacin and Endothelial Function in Early CKD
NCT00858299	PHASE4	UNKNOWN	The Change of Urinary Angiotensinogen Excretion After Valsartan Treatment in Patients With Persistent Proteinuria
NCT00860431	PHASE4	COMPLETED	Kremezin Study Against Renal Disease Progression in Korea
NCT00882401	PHASE4	COMPLETED	Vitamin D, Chronic Kidney Disease (CKD) and the Microcirculation
NCT00889629	PHASE4	COMPLETED	Pilot Study Evaluating Doxercalciferol Replacement Therapy in Kidney Transplant Recipients
NCT00892892	PHASE4	WITHDRAWN	Sympathetic Nerve Activity in Renal Failure
NCT00893425	PHASE4	COMPLETED	Effect of Renin Angiotensin System Blockade on the Fas Antigen (CD95) and Asymmetric Dimethylarginine (ADMA) Levels in Type-2 Diabetic Patients With Proteinuria
NCT00908310	PHASE4	COMPLETED	Post-marketing Safety Study in Patients With Moderate Renal Insufficiency Who Receive Omniscan for Contrast-enhanced Magnetic Resonance Imaging (MRI)
NCT00958451	PHASE4	COMPLETED	Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients