TBPL1

Summary

TBPL1 (TATA-box binding protein like 1, HGNC:11589) is a protein-coding gene on chromosome 6q23.2, encoding TATA box-binding protein-like 1 (P62380). Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5’-TCT-3’ motif which is a core promoter element at these genes.

This gene encodes a member of the TATA box-binding protein family. TATA box-binding proteins play a critical role in transcription by RNA polymerase II as components of the transcription factor IID (TFIID) complex. The encoded protein does not bind to the TATA box and initiates transcription from TATA-less promoters. This gene plays a critical role in spermatogenesis, and single nucleotide polymorphisms in this gene may be associated with male infertility. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 3.

Source: NCBI Gene 9519 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 13 total
• Transcription factor: yes — 43 downstream targets (CollecTRI)
• MANE Select transcript: NM_004865

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11589
Approved symbol	TBPL1
Name	TATA-box binding protein like 1
Location	6q23.2
Locus type	gene with protein product
Status	Approved
Aliases	TLP, STUD, TRF2, TLF
Ensembl gene	ENSG00000028839
Ensembl biotype	protein_coding
OMIM	605521
Entrez	9519

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000237264, ENST00000367869, ENST00000367871, ENST00000416965, ENST00000457715, ENST00000477527, ENST00000481694, ENST00000613034

RefSeq mRNA: 2 — MANE Select: NM_004865 NM_001253676, NM_004865

CCDS: CCDS5168

Canonical transcript exons

ENST00000237264 — 7 exons

Exon	Start	End
ENSE00000798782	133982568	133982650
ENSE00001445816	133953224	133953425
ENSE00003515009	133982817	133982880
ENSE00003539569	133984577	133984671
ENSE00003651011	133986961	133990432
ENSE00003791632	133984376	133984479
ENSE00003799061	133980082	133980260

Expression profiles

Bgee: expression breadth ubiquitous, 288 present calls, max score 99.25.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.6284 / max 410.9384, expressed in 1820 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69865	33.9738	1819
69864	2.7411	1419
69860	0.4041	54
69862	0.3043	137
69859	0.1560	46
69858	0.0468	9
69861	0.0023	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.25	gold quality
secondary oocyte	CL:0000655	98.81	gold quality
left testis	UBERON:0004533	98.39	gold quality
right testis	UBERON:0004534	98.19	gold quality
adult organism	UBERON:0007023	97.36	gold quality
testis	UBERON:0000473	97.19	gold quality
sperm	CL:0000019	97.17	gold quality
cortical plate	UBERON:0005343	96.69	gold quality
male germ cell	CL:0000015	96.65	gold quality
ganglionic eminence	UBERON:0004023	96.52	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.21	gold quality
prefrontal cortex	UBERON:0000451	94.65	gold quality
Brodmann (1909) area 9	UBERON:0013540	94.47	gold quality
middle temporal gyrus	UBERON:0002771	94.22	gold quality
cerebellar hemisphere	UBERON:0002245	94.21	gold quality
cerebellar cortex	UBERON:0002129	94.19	gold quality
right frontal lobe	UBERON:0002810	94.02	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.89	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	93.67	gold quality
monocyte	CL:0000576	93.42	gold quality
granulocyte	CL:0000094	93.40	gold quality
leukocyte	CL:0000738	93.27	gold quality
mononuclear cell	CL:0000842	93.20	gold quality
adenohypophysis	UBERON:0002196	93.19	gold quality
cingulate cortex	UBERON:0003027	93.05	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	92.97	gold quality
endothelial cell	CL:0000115	92.96	gold quality
embryo	UBERON:0000922	92.94	gold quality
cerebellum	UBERON:0002037	92.93	gold quality
anterior cingulate cortex	UBERON:0009835	92.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.41

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

43 targets.

Target	Regulation
ACHE
C6
CD44
CD74
CDKN1A
CXCL11
DNTT
EDN1
FOS	Repression
GSTP1
GTF2A1
GTF2B
H1-2
LCT
MC1R
MT-ATP6
NF1	Activation
OXTR
PAM
PCNA
PDP1
PMEL
POLI
POT1
SLC3A1
SLU7
SPI1
SPINT2
SULT2A1
TAF7

Upstream regulators (CollecTRI, top): NKX3-1, TBPL1, TP53

miRNA regulators (miRDB)

90 targeting TBPL1, 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-4668-3P	100.00	68.74	2635
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-454-3P	99.91	74.01	1925
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805

Literature-anchored findings (GeneRIF, showing 9)

• Data show that during interphase, endogenous or exogenously expressed TRF2 is located almost exclusively in the nucleolus (PMID:15269281)
• TLF is a functional regulator of transcription with targets distinct from those of TBP. (PMID:15767669)
• the knockdown of the endogenous TLP reduced etoposide-induced apoptosis through repression of TAp63 expression. Taken together, our present study identifies a TLP-TAp63 pathway that is further implicated in stress-induced apoptosis. (PMID:19858204)
• TLP mediates p53-governed transcriptional activation of the p21 upstream promoter. (PMID:22511763)
• results suggest that activation of the p21 upstream promoter is mediated by interaction between specific regions of TLP and p53 (PMID:24594805)
• Western blotting and immunohistochemistry both indicated a higher TBPL1 protein expression level in colorectal cancer tissue. siRNA for TBPL1 transfection obviously slowed down the cell proliferation in both SW-620 and HT-29 cells. (PMID:24870791)
• miR18a exhibits a protective role in colorectal cancer (CRC) via inhibiting proliferation, invasion and migration of CRC cells by directly targeting the TBPL1 gene. (PMID:26398009)
• The interaction of TBP-like protein with TFIIA is essential to suppress proteasome-dependent turnover of TBP-like protein (PMID:27696626)
• TLP Prevents p53 Degradation through Disrupting the p53-MDM2 Interaction. (PMID:28082682)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	tbpl1	ENSDARG00000036868
mus_musculus	Tbpl1	ENSMUSG00000071359
rattus_norvegicus	Tbpl1	ENSRNOG00000066988
drosophila_melanogaster	Trf2	FBGN0261793
caenorhabditis_elegans	tlf-1	WBGENE00006577

Paralogs (2): TBP (ENSG00000112592), TBPL2 (ENSG00000182521)

Protein

Protein identifiers

TATA box-binding protein-like 1 — P62380 (reviewed: P62380)

Alternative names: 21 kDa TBP-like protein, Second TBP of unique DNA protein, TATA box-binding protein-related factor 2, TBP-like factor, TBP-related protein

All UniProt accessions (5): P62380, Q7Z6T9, Q7Z6U0, Q7Z6U1, Q7Z6U2

UniProt curated annotations — full annotation on UniProt →

Function. Part of a specialized transcription system that mediates the transcription of most ribosomal proteins through the 5’-TCT-3’ motif which is a core promoter element at these genes. Seems to also mediate the transcription of NF1. Does not bind the TATA box.

Subunit / interactions. Binds TFIIA and TFIIB.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitously expressed, with highest levels in the testis and ovary.

Similarity. Belongs to the TBP family.

RefSeq proteins (2): NP_001240605, NP_004856* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000814	TBP	Family
IPR012295	TBP_dom_sf	Homologous_superfamily
IPR015445	TBP-like	Family

Pfam: PF00352

UniProt features (2 total): chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P62380-F1	95.16	0.94

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 257 (showing top): TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_VESICLE_ORGANIZATION, GCANCTGNY_MYOD_Q6, GOBP_PYRIMIDINE_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, RACCACAR_AML_Q6, MEF2_02, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, EFC_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, AACWWCAANK_UNKNOWN, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS

GO Biological Process (7): acrosome assembly (GO:0001675), dTTP biosynthetic process (GO:0006235), DNA-templated transcription initiation (GO:0006352), transcription by RNA polymerase II (GO:0006366), spermatid nucleus differentiation (GO:0007289), spermatogenesis (GO:0007283), nucleobase-containing compound biosynthetic process (GO:0034654)

GO Molecular Function (5): RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979), RNA polymerase II general transcription initiation factor activity (GO:0016251), general transcription initiation factor activity (GO:0140223), DNA binding (GO:0003677), protein binding (GO:0005515)

GO Cellular Component (4): male germ cell nucleus (GO:0001673), transcription factor TFIIA complex (GO:0005672), cytoplasm (GO:0005737), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	3
developmental process involved in reproduction	2
spermatid development	2
cellular component assembly involved in morphogenesis	1
cellular process involved in reproduction in multicellular organism	1
secretory granule organization	1
organelle assembly	1
deoxyribonucleoside triphosphate biosynthetic process	1
pyrimidine deoxyribonucleoside triphosphate biosynthetic process	1
pyrimidine deoxyribonucleotide biosynthetic process	1
dTTP metabolic process	1
RNA biosynthetic process	1
nucleus organization	1
male gamete generation	1
nucleobase-containing compound metabolic process	1
biosynthetic process	1
RNA polymerase II transcription regulatory region sequence-specific DNA binding	1
core promoter sequence-specific DNA binding	1
transcription by RNA polymerase II	1
general transcription initiation factor activity	1
molecular_function	1
nucleic acid binding	1
binding	1
germ cell nucleus	1
RNA polymerase II, holoenzyme	1
RNA polymerase II transcription regulator complex	1
intracellular anatomical structure	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

2844 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TBPL1	GTF2A1	P52655	858
TBPL1	GTF2B	Q00403	813
TBPL1	TAF7L	Q5H9L4	751
TBPL1	CREM	Q03060	703
TBPL1	HPR	P00739	692
TBPL1	TERF1	P54274	677
TBPL1	POLI	Q9UNA4	659
TBPL1	CTNNB1	P35222	630
TBPL1	APOL1	O14791	623
TBPL1	NUBPL	Q8TB37	599
TBPL1	LINGO2	Q7L985	598
TBPL1	TAF7	Q15545	594
TBPL1	GTF2A1L	Q9UNN4	557
TBPL1	TAF2	Q6P1X5	546
TBPL1	ZBED1	O96006	539

IntAct

173 interactions, top by confidence:

A	B	Type	Score
GTF2A1	TBPL1	psi-mi:“MI:0915”(physical association)	0.850
TBPL1	GTF2A1	psi-mi:“MI:0915”(physical association)	0.850
GTF2A1	TBP	psi-mi:“MI:0914”(association)	0.740
TBPL1	DVL3	psi-mi:“MI:0915”(physical association)	0.680
TBPL1	DVL3	psi-mi:“MI:0407”(direct interaction)	0.680
TNNT1	TBPL1	psi-mi:“MI:0915”(physical association)	0.560
TBPL1	TNNT1	psi-mi:“MI:0915”(physical association)	0.560
TBPL1	LSM5	psi-mi:“MI:0915”(physical association)	0.560
GRN	TBPL1	psi-mi:“MI:0915”(physical association)	0.560
TBPL1	WFS1	psi-mi:“MI:0915”(physical association)	0.560
TBPL1	RNF11	psi-mi:“MI:0915”(physical association)	0.560
GTF2A1	INPPL1	psi-mi:“MI:0914”(association)	0.530
TBPL1	MAST2	psi-mi:“MI:0407”(direct interaction)	0.440
TBPL1	TAMALIN	psi-mi:“MI:0407”(direct interaction)	0.440
TBPL1	MAST1	psi-mi:“MI:0407”(direct interaction)	0.440
PARD3B	TBPL1	psi-mi:“MI:0407”(direct interaction)	0.440
TBPL1	NHERF4	psi-mi:“MI:0407”(direct interaction)	0.440
TBPL1	PDZD7	psi-mi:“MI:0407”(direct interaction)	0.440
TBPL1	LIN7C	psi-mi:“MI:0407”(direct interaction)	0.440
APBA3	TBPL1	psi-mi:“MI:0407”(direct interaction)	0.440
TBPL1	LNX1	psi-mi:“MI:0407”(direct interaction)	0.440
TBPL1	TIAM2	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (53): TBPL1 (Affinity Capture-MS), TBPL1 (Two-hybrid), TBPL1 (Affinity Capture-MS), TBPL1 (Reconstituted Complex), TBPL1 (Reconstituted Complex), TBPL1 (Affinity Capture-Western), TP53 (Affinity Capture-Western), TBPL1 (Affinity Capture-MS), GTF2A1 (Affinity Capture-MS), GTF2A2 (Affinity Capture-MS), PMVK (Affinity Capture-MS), TBPL1 (Biochemical Activity), TBPL1 (Affinity Capture-MS), TBPL1 (Affinity Capture-MS), TBPL1 (Affinity Capture-MS)

ESM2 similar proteins: A0B5H8, A6ZQM4, A7UFC2, B3LQ11, B7XHS8, C4M7H7, O13270, O17488, O43133, O45211, P13393, P17871, P26355, P27633, P29037, P32086, P35875, P39677, P52653, P53360, P53361, P62340, P62380, P91809, Q07953, Q12731, Q1JPY4, Q27850, Q27896, Q28DH2, Q28GG8, Q32LB1, Q4R848, Q54N48, Q54QA6, Q550C8, Q5R7U8, Q5U385, Q5UE94, Q6DIY4

Diamond homologs: A0B5H8, A1RSQ1, A3MV36, A5UL47, A6H907, A6H909, A6URP5, A6UTF6, A6VIP7, A7UFC2, A9A840, B1Y949, B6YXI6, C4M7H7, C6A0R1, D4GZA2, D4H071, O13270, O17488, O27664, O29874, O43133, O45211, O52004, O52018, O58737, P13393, P17871, P20226, P20227, P26354, P26355, P26356, P26357, P27633, P28147, P28148, P29037, P32085, P32086

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
CHEK2	“down-regulates activity”	TBPL1	phosphorylation

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Ras activation upon Ca2+ influx through NMDA receptor	5	39.1×	9e-06
Unblocking of NMDA receptors, glutamate binding and activation	5	37.2×	9e-06
Negative regulation of NMDA receptor-mediated neuronal transmission	5	37.2×	9e-06
Assembly and cell surface presentation of NMDA receptors	10	34.8×	3e-11
Dopamine Neurotransmitter Release Cycle	5	34.0×	1e-05
Long-term potentiation	5	32.6×	1e-05
Neurexins and neuroligins	11	29.7×	2e-11
Protein-protein interactions at synapses	7	25.5×	9e-07

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	11	62.1×	5e-15
protein localization to synapse	6	44.6×	5e-07
receptor clustering	7	42.4×	7e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	7	33.7×	3e-07
cell-cell adhesion	10	9.9×	8e-06
protein-containing complex assembly	8	8.8×	2e-04
chemical synaptic transmission	7	5.2×	1e-02
intracellular signal transduction	11	4.1×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	5
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1110 predictions. Top by Δscore:

Variant	Effect	Δscore
6:133980073:A:AG	acceptor_gain	1.0000
6:133980074:T:G	acceptor_gain	1.0000
6:133980076:TCTCA:T	acceptor_loss	1.0000
6:133980077:CTCAG:C	acceptor_loss	1.0000
6:133980078:TCA:T	acceptor_loss	1.0000
6:133980079:CAGG:C	acceptor_loss	1.0000
6:133980080:A:AG	acceptor_gain	1.0000
6:133980080:AG:A	acceptor_gain	1.0000
6:133980080:AGGAT:A	acceptor_gain	1.0000
6:133980081:G:GC	acceptor_gain	1.0000
6:133980081:GG:G	acceptor_gain	1.0000
6:133980081:GGA:G	acceptor_gain	1.0000
6:133980081:GGAT:G	acceptor_gain	1.0000
6:133980081:GGATG:G	acceptor_gain	1.0000
6:133980256:TTGGA:T	donor_gain	1.0000
6:133980258:GGA:G	donor_gain	1.0000
6:133980259:GA:G	donor_gain	1.0000
6:133980259:GAG:G	donor_gain	1.0000
6:133980259:GAGT:G	donor_loss	1.0000
6:133980260:AGTA:A	donor_loss	1.0000
6:133980261:G:GG	donor_gain	1.0000
6:133980262:TAA:T	donor_loss	1.0000
6:133982567:GAAA:G	acceptor_gain	1.0000
6:133982807:A:AG	acceptor_gain	1.0000
6:133982808:A:AG	acceptor_gain	1.0000
6:133982809:A:AG	acceptor_gain	1.0000
6:133982810:A:AG	acceptor_gain	1.0000
6:133982812:C:A	acceptor_gain	1.0000
6:133982815:A:AG	acceptor_gain	1.0000
6:133982816:G:GC	acceptor_gain	1.0000

AlphaMissense

1212 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:133982605:C:A	A58D	1.000
6:133982623:G:A	G64E	1.000
6:133982623:G:T	G64V	1.000
6:133984644:T:C	F152L	1.000
6:133984646:T:A	F152L	1.000
6:133984646:T:G	F152L	1.000
6:133984654:G:A	G155E	1.000
6:133984654:G:T	G155V	1.000
6:133980202:T:C	L26S	0.999
6:133982604:G:C	A58P	0.999
6:133982611:T:A	I60N	0.999
6:133982622:G:A	G64R	0.999
6:133982622:G:C	G64R	0.999
6:133982634:T:C	C68R	0.999
6:133982636:C:G	C68W	0.999
6:133982641:G:A	G70E	0.999
6:133982827:G:C	A77P	0.999
6:133982837:G:A	G80D	0.999
6:133982840:C:A	A81D	0.999
6:133982855:G:C	R86P	0.999
6:133984407:T:A	V105D	0.999
6:133984412:G:C	A107P	0.999
6:133984413:C:A	A107E	0.999
6:133984430:T:C	F113L	0.999
6:133984432:T:A	F113L	0.999
6:133984432:T:G	F113L	0.999
6:133984644:T:A	F152I	0.999
6:133984644:T:G	F152V	0.999
6:133986961:G:A	G161E	0.999
6:133980170:T:A	N15K	0.998

dbSNP variants (sampled 300 via entrez): RS1000023863 (6:133959329 G>A), RS1000068185 (6:133968621 C>G,T), RS1000185644 (6:133974562 C>T), RS1000196692 (6:133971894 G>A), RS1000332130 (6:133971625 T>C), RS1000452551 (6:133978552 C>T), RS1000489439 (6:133965936 G>A), RS1000511043 (6:133985810 C>T), RS1000597856 (6:133985190 A>C), RS1000704557 (6:133978996 A>AT), RS1000767960 (6:133980438 T>C), RS1000832374 (6:133954575 C>A), RS1000886755 (6:133978767 A>T), RS1000987894 (6:133986044 C>T), RS1001025780 (6:133961154 T>A,C)

Disease associations

OMIM: gene MIM:605521 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003542_172	Night sleep phenotypes	1.000000e-06
GCST008163_80	Height	6.000000e-06
GCST009467_3	Hemoglobin levels	3.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004509	hemoglobin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, decreases expression, affects cotreatment, increases abundance, increases expression	4
Valproic Acid	affects expression, decreases methylation, increases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
arsenite	affects binding, increases reaction	1
butyraldehyde	increases expression	1
perfluorooctanoic acid	increases expression	1
manganese chloride	increases abundance, increases expression, affects cotreatment	1
aflatoxin B2	decreases methylation	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	increases reaction, affects binding	1
chloropicrin	increases expression	1
deguelin	increases expression	1
corosolic acid	decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	increases abundance, decreases expression	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Dimethyl Sulfoxide	increases expression	1
Manganese	increases abundance, increases expression, affects cotreatment	1
Phenobarbital	affects expression	1
Rotenone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 telomerase immortalized cell line

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

Cellosaurus	Name	Category	Sex
CVCL_C3KK	N/Tert-1 TBPL1	Telomerase immortalized cell line	Male

Clinical trials (associated diseases)

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