TCL1A

Summary

TCL1A (TCL1 family AKT coactivator A, HGNC:11648) is a protein-coding gene on chromosome 14q32.13, encoding T-cell leukemia/lymphoma protein 1A (P56279). Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3.

Overexpression of the TCL1 gene in humans has been implicated in the development of mature T cell leukemia, in which chromosomal rearrangements bring the TCL1 gene in close proximity to the T-cell antigen receptor (TCR)-alpha (MIM 186880) or TCR-beta (MIM 186930) regulatory elements (summarized by Virgilio et al., 1998 [PubMed 9520462]). In normal T cells TCL1 is expressed in CD4-/CD8- cells, but not in cells at later stages of differentiation. TCL1 functions as a coactivator of the cell survival kinase AKT (MIM 164730) (Laine et al., 2000 [PubMed 10983986]).

Source: NCBI Gene 8115 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 11 total
• Cancer driver (intOGen): loss-of-function (tumor-suppressor-like) across 1 cancer types
• MANE Select transcript: NM_021966

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11648
Approved symbol	TCL1A
Name	TCL1 family AKT coactivator A
Location	14q32.13
Locus type	gene with protein product
Status	Approved
Aliases	TCL1
Ensembl gene	ENSG00000100721
Ensembl biotype	protein_coding
OMIM	186960
Entrez	8115

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 5 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000402399, ENST00000553467, ENST00000554012, ENST00000554119, ENST00000555202, ENST00000555886, ENST00000556156, ENST00000556450, ENST00000557043

RefSeq mRNA: 2 — MANE Select: NM_021966 NM_001098725, NM_021966

CCDS: CCDS9941

Canonical transcript exons

ENST00000402399 — 4 exons

Exon	Start	End
ENSE00000870300	95709947	95710881
ENSE00003581016	95712220	95712396
ENSE00003634288	95711749	95711802
ENSE00003848722	95713947	95714125

Expression profiles

Bgee: expression breadth ubiquitous, 153 present calls, max score 99.83.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 13.8976 / max 2469.6633, expressed in 123 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
144804	13.6429	119
207356	0.1657	32
207357	0.0890	27

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	99.83	gold quality
secondary oocyte	CL:0000655	99.43	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	95.41	gold quality
granulocyte	CL:0000094	93.14	gold quality
lymph node	UBERON:0000029	92.15	gold quality
vermiform appendix	UBERON:0001154	91.80	gold quality
spleen	UBERON:0002106	89.93	gold quality
caecum	UBERON:0001153	86.64	gold quality
blood	UBERON:0000178	86.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.61	gold quality
bone marrow	UBERON:0002371	85.06	gold quality
ileal mucosa	UBERON:0000331	83.53	gold quality
epithelium of nasopharynx	UBERON:0001951	82.31	gold quality
bone marrow cell	CL:0002092	80.58	gold quality
superficial temporal artery	UBERON:0001614	77.60	gold quality
leukocyte	CL:0000738	76.48	gold quality
trabecular bone tissue	UBERON:0002483	75.60	gold quality
mononuclear cell	CL:0000842	74.68	gold quality
monocyte	CL:0000576	74.35	gold quality
tonsil	UBERON:0002372	74.34	gold quality
right testis	UBERON:0004534	73.75	gold quality
left testis	UBERON:0004533	72.76	gold quality
testis	UBERON:0000473	72.33	gold quality
gall bladder	UBERON:0002110	71.91	gold quality
mucosa of transverse colon	UBERON:0004991	70.07	gold quality
rectum	UBERON:0001052	67.44	gold quality
tibialis anterior	UBERON:0001385	67.11	silver quality
small intestine Peyer’s patch	UBERON:0003454	64.99	gold quality
superior surface of tongue	UBERON:0007371	62.68	gold quality
oral cavity	UBERON:0000167	62.14	gold quality

Single-cell (SCXA)

Detected in 16 experiment(s), a significant marker in 16.

Experiment	Marker?	Max mean expression
E-MTAB-9801	yes	6946.33
E-CURD-112	yes	5703.00
E-MTAB-9067	yes	5670.39
E-MTAB-7407	yes	3678.59
E-HCAD-4	yes	2815.29
E-CURD-122	yes	2793.90
E-MTAB-6386	yes	2378.07
E-HCAD-1	yes	1108.93
E-MTAB-8410	yes	996.84
E-CURD-77	yes	987.55
E-GEOD-75688	yes	754.77
E-ANND-5	yes	716.00
E-CURD-88	yes	75.01
E-HCAD-10	yes	26.76
E-MTAB-10553	yes	16.02

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): KLF2, KLF5, NR4A1, POU5F1, SP1, TCF3, ZFP57

miRNA regulators (miRDB)

28 targeting TCL1A, 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-4455	100.00	65.48	1587
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-512-3P	99.97	67.35	1049
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-3160-3P	99.07	64.78	955
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-6511B-5P	97.98	65.64	823
HSA-MIR-6811-5P	97.98	64.96	848
HSA-MIR-558	97.50	67.16	977
HSA-MIR-4786-5P	97.45	67.89	924
HSA-MIR-125A-3P	97.04	66.92	902
HSA-MIR-6729-3P	96.91	66.79	703
HSA-MIR-6875-5P	96.87	65.49	958
HSA-MIR-3126-5P	96.87	65.83	912
HSA-MIR-212-5P	96.83	67.43	950
HSA-MIR-885-3P	95.14	63.08	448

Literature-anchored findings (GeneRIF, showing 40)

• An exposed hydrophobic patch composed of two discontinuous amino acid stretches has been identified near one end of the TCL1 beta-barrel that is required for TCL1-AKT binding association. (PMID:12009899)
• Increased TCL1 expression correlates with PBC-ALL progression and loss of TEL expression. TCL1 expression is important for the maturation of precursor lymphocytes but not differentiated B or T cells. (PMID:12127395)
• data demonstrate that TCL1 is a powerful oncogene that, when overexpressed in both B and T cells, predominantly yields mature B cell lymphomas (PMID:12381789)
• oncogene transactivation by Sp1 (PMID:12421830)
• results further support derivation of blastic tumors of skin from dendritic cells and demonstrate TCL1 proto-oncogene protein expression in this tumor (PMID:12576313)
• altered expression in Burkitt lymphomas in the presence of Epstein-Barr virus (PMID:12672960)
• Involved in the pathogenesis of mature leukemias and lymphomas: mature T-cell leukemia and chronic lymphocytic leukemia(review) (PMID:15325703)
• Akt kinase activity can be inhibited by a peptide spanning the betaA strand of the proto-oncogene TCL1 (PMID:15459205)
• Detailed mechanism for TCL1-augmented signaling helps explain the delayed occurrence of mature T cell expansions and leukemias despite tumorigenic TCL1 dysregulation that begins in early thymocytes. (PMID:16002684)
• In EBV-negative diffuse large B-cell lymphoma and Burkitt lymphoma-derived cell lines infected in vitro with a recombinant EBV, high expression of EBNA2 inversely correlated with expression of germinal center-associated genes, BCL6 and TCL1. (PMID:17151114)
• Expression levels of microRNA generally inversely correlated with Tcl1 expression in chronic lymphocytic leukemia. (PMID:17178851)
• Biological action of the proto-oncogene TCL1 family and the development avenues for a suppressive drug specific for Akt, a core intracellular survival regulator.[REVIEW] (PMID:17360849)
• TORC2 regulates germinal center repression of the TCL1 oncoprotein to promote B cell development and inhibit transformation. (PMID:17548807)
• TCL1 expression in B-cell tumors parallels its regulation in non-neoplastic B cells and can be used diagnostically as an indicator of the differentiation stage of a given B-cell tumor. (PMID:17592280)
• TCL1A deregulation may be caused by faulty gene silencing as a potential consequence of losses of 7q miRNAs in splenic marginal zone lymphoma. (PMID:17625607)
• Lower TCL-1 levels were associated with improved complete remission rate and progression-free survival (PMID:17659340)
• TCL1 inhibits activation-induced cell death in T cells by blocking PKCtheta and ERK activation, upon cellular activation (PMID:17846228)
• in T-cell prolymphocytic leukemia, TCL1 represents a highly regulated, targetable modulator of T cell receptor-mediated AKT growth signaling (PMID:17890451)
• mediates intracellular signals to regulate a variety of cellular responses and its genomic mutations and alterations underlie cancer, viral and/or bacterial infections.[review] (PMID:18546844)
• TCL1A expression delineates biological and clinical variability in B-cell lymphoma. (PMID:18820675)
• The results indicate that Tcl1 overexpression causes B cell chronic lymphocytic leukemia by directly enhancing NF-kappaB activity and inhibiting AP-1. (PMID:19064921)
• Tcl1A unique set of molecules, Tcl1 and galectin-1, defines distinct B cell receptor signaling cascades, dictating survival and death of human naive and immunoglobulin M-positive (IgM+) memory B cells. (PMID:19155496)
• Recurrent loss, but lack of mutations, of the SMARCB1 tumor suppressor gene in T-cell prolymphocytic leukemia with TCL1A-TCRAD juxtaposition. (PMID:19480937)
• MIR34B/MIR34C regulates TCL1 expression in chronic lymphocytic leukemia (PMID:19536169)
• establish that the association between TCL1A and IkappaB is compatible with AKT binding to TCL1A, but incompatible with IkappaB binding to NF-kappaB (PMID:19668332)
• The authors confirmed that EBNA3C upregulates TCL1 and discovered that EBNA3C upregulates TCL1 through RBP-Jkappa, indicating a central role for EBNA3C interaction with RBP-Jkappa in mediating cell gene transcription. (PMID:19776126)
• TCL1 mRNA expression may predict clinical outcome in CLL and that the IGHV3-21 subset, regardless of mutational status, displays high TCL1 expression. (PMID:19889012)
• CD5+CD23+ leukemic cell populations in TCL1 transgenic mice show significantly increased proliferation and Akt phosphorylation. (PMID:20357824)
• TCL1 positivity was predominantly found in germinal center phenotype diffuse large B-cell lymphoma. (PMID:20382409)
• Immunohistochemical evaluation of TCL1 expression may be useful for substantiating a diagnosis of unclassified type of intratubular germ cell neoplasia or seminoma. (PMID:20395523)
• TCL1 is a diagnostic marker for intratubular germ cell neoplasia and classic seminoma. (PMID:20553335)
• Data indicate an inverse correlation between miR-16-1, miR-181a, miR-181b, and level of expression of TCL-1 and BCL-2, which suggest that these miRNAs may implicate in negatively regulating target mRNA at transcriptional level. (PMID:21130495)
• This study identified 4 single nucleotide polymorphisms related to TCL1A that, when present, were associated with musculoskeletal adverse effects to anastrozole or exemestane treatment in postmenopausal women with stage I to III breast cancer. (PMID:21172079)
• Using primary chronic lymphocytic leukemia cells we have shown an inverse relationship between TCL1 and PTPROt expression. (PMID:22001392)
• genetic association studies in a Japanese population: Data suggest that a substantial number of patients with T-cell prolymphocytic leukemia exhibit abnormal expression of TCL1A probably due to rearrangement in region of TCL1 gene. (PMID:22189846)
• CLL samples with high Tcl1 expression showed a decrease in DNA methylation compared with CLL samples with low Tcl1 expression (PMID:22308499)
• SNPs near the 3’ terminus of TCL1A were associated with aromatase inhibitors-dependent musculoskeletal pain. Estradiol induced SNP-dependent TCL1A expression. (PMID:22405131)
• 100% of dysgerminomas were positive for TCL1, but all immature teratomas were negative. (PMID:22448662)
• These findings demonstrate that the microenvironment has a proactive role in the regulation of the known signaling enhancer and pro-survival molecule TCL1 in CLL. (PMID:22460735)
• Data indicate that up-regulated transcription of TCL1A was observed in two cases. (PMID:22553924)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tcl1	ENSMUSG00000041359
rattus_norvegicus	Tcl1a	ENSRNOG00000025233

Paralogs (2): TCL1B (ENSG00000213231), MTCP1 (ENSG00000214827)

Protein

Protein identifiers

T-cell leukemia/lymphoma protein 1A — P56279 (reviewed: P56279)

Alternative names: Oncogene TCL-1, Protein p14 TCL1

All UniProt accessions (3): P56279, G3V4T4, H0YJR9

UniProt curated annotations — full annotation on UniProt →

Function. Enhances the phosphorylation and activation of AKT1, AKT2 and AKT3. Promotes nuclear translocation of AKT1. Enhances cell proliferation, stabilizes mitochondrial membrane potential and promotes cell survival.

Subunit / interactions. Homodimer. Interacts with AKT1, AKT2 and AKT3 (via PH domain). Interacts with PNPT1; the interaction has no effect on PNPT1 exonuclease activity.

Subcellular location. Cytoplasm. Nucleus. Microsome. Endoplasmic reticulum.

Tissue specificity. Restricted in the T-cell lineage to immature thymocytes and activated peripheral lymphocytes. Preferentially expressed early in T- and B-lymphocyte differentiation.

Disease relevance. Chromosomal aberrations activating TCL1A are found in chronic T-cell leukemias (T-CLL). Translocation t(14;14)(q11;q32); translocation t(7;14)(q35;q32); inversion inv(14)(q11;q32) that involves the T-cell receptor alpha/delta loci.

Similarity. Belongs to the TCL1 family.

RefSeq proteins (2): NP_001092195, NP_068801* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004832	TCL1_MTCP1	Family
IPR036672	TCL1_MTCP1_sf	Homologous_superfamily

Pfam: PF01840

UniProt features (20 total): strand 9, mutagenesis site 6, chain 1, sequence variant 1, turn 1, helix 1, sequence conflict 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
1JSG	X-RAY DIFFRACTION	2.5
9LQ1	ELECTRON MICROSCOPY	3.36
9LQ2	ELECTRON MICROSCOPY	3.58
9LQ4	ELECTRON MICROSCOPY	4.12

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P56279-F1	90.70	0.77

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 (6):

Position	Phenotype
16	greatly reduced binding to akt1, akt2 and akt3. abolishes nuclear transport of akt1.
30	slightly reduced binding to akt2.
36–38	unable to homodimerize but has no effect on interaction with akt1, akt2 or akt3.
46	slightly increased binding to akt2.
74	greatly reduced binding to akt2. abolishes nuclear transport of akt1.
106	slightly increased binding to akt2.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 164 (showing top): NKX25_02, MODULE_45, PUJANA_CHEK2_PCC_NETWORK, NKX61_01, GOMF_KINASE_ACTIVATOR_ACTIVITY, MODULE_118, SOX9_B1, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, MODULE_301, SHIN_B_CELL_LYMPHOMA_CLUSTER_1, BROWN_MYELOID_CELL_DEVELOPMENT_UP, MODULE_88, KORKOLA_EMBRYONIC_CARCINOMA_VS_SEMINOMA_DN, MODULE_188, YAMAZAKI_TCEB3_TARGETS_DN

GO Biological Process (1): intracellular signal transduction (GO:0035556)

GO Molecular Function (4): protein kinase binding (GO:0019901), identical protein binding (GO:0042802), protein serine/threonine kinase activator activity (GO:0043539), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), endoplasmic reticulum (GO:0005783), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
intracellular anatomical structure	2
intracellular membrane-bounded organelle	2
cytoplasm	2
signal transduction	1
kinase binding	1
protein binding	1
protein serine/threonine kinase activity	1
protein kinase activator activity	1
binding	1
nuclear lumen	1
endomembrane system	1

Protein interactions and networks

STRING

1188 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TCL1A	IGHV4-38-2	P0DP08	798
TCL1A	DNMT3A	Q9Y6K1	789
TCL1A	CD5	P06127	739
TCL1A	ROR1	Q01973	697
TCL1A	AKT1	P31749	654
TCL1A	PRDM14	Q9GZV8	625
TCL1A	ESRRB	O95718	601
TCL1A	IGLL5	B9A064	601
TCL1A	BCL6	P41182	572
TCL1A	CLEC4C	Q8WTT0	545
TCL1A	PAX5	Q02548	543
TCL1A	CD19	P15391	542
TCL1A	KDM4C	Q9H3R0	535
TCL1A	NANOG	Q9H9S0	534
TCL1A	KDM3A	Q9Y4C1	530

IntAct

201 interactions, top by confidence:

A	B	Type	Score
TCL1A	CALCOCO2	psi-mi:“MI:0915”(physical association)	0.900
CALCOCO2	TCL1A	psi-mi:“MI:0915”(physical association)	0.900
TCL1A	DNMT3A	psi-mi:“MI:0915”(physical association)	0.830
DNMT3A	TCL1A	psi-mi:“MI:0915”(physical association)	0.830
AKT1	TCL1A	psi-mi:“MI:0915”(physical association)	0.830
AKT1	TCL1A	psi-mi:“MI:2364”(proximity)	0.830
TCL1A	GOLGA2	psi-mi:“MI:0915”(physical association)	0.790
TRAF1	TCL1A	psi-mi:“MI:0915”(physical association)	0.790
GOLGA2	TCL1A	psi-mi:“MI:0915”(physical association)	0.790
TCL1A	TRAF1	psi-mi:“MI:0915”(physical association)	0.790

BioGRID (99): TCL1A (Two-hybrid), TCL1A (Two-hybrid), TCL1A (Two-hybrid), TCL1A (Two-hybrid), TCL1A (Two-hybrid), TCL1A (Two-hybrid), TCL1A (Two-hybrid), CADPS (Two-hybrid), CALCOCO2 (Two-hybrid), WDR47 (Two-hybrid), TTC33 (Two-hybrid), LSM3 (Two-hybrid), CEP55 (Two-hybrid), PRTFDC1 (Two-hybrid), CARD9 (Two-hybrid)

ESM2 similar proteins: A0A0B5AC19, A0A338, A1XFV8, A4GYR3, A4SXQ1, A6MM39, A6MML0, A7Y3E0, A9L999, B0Z4L4, B0Z4U8, B0Z532, B0Z5B6, B1XUK0, B3TN54, B5LML3, O29737, P0C338, P0C339, P0C340, P12199, P14961, P22046, P23652, P24395, P31174, P34944, P49521, P56279, P80261, Q09G43, Q14FF4, Q19V88, Q25330, Q2VEH4, Q33994, Q34011, Q35322, Q4VZH2, Q6ENH1

Diamond homologs: O95988, P56278, P56279, P56280, Q60945

SIGNOR signaling

4 interactions.

A	Effect	B	Mechanism
TCL1A	up-regulates	AKT	binding
TCL1A	up-regulates	AKT3	binding
TCL1A	up-regulates	AKT1	binding
TCL1A	up-regulates	AKT2	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 48 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.

GO biological processes:

GO term	Partners	Fold	FDR
canonical NF-kappaB signal transduction	5	44.7×	5e-05
neuron differentiation	5	12.2×	5e-03

Disease & clinical

Cancer significance

From intOGen — cancer-driver classification: loss-of-function (tumor-suppressor-like) across 1 cancer types — DLBCLNOS.

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	8
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

545 predictions. Top by Δscore:

Variant	Effect	Δscore
14:95711743:GCTCA:G	donor_loss	1.0000
14:95711744:CTCA:C	donor_loss	1.0000
14:95711745:TCA:T	donor_loss	1.0000
14:95711746:CACCA:C	donor_loss	1.0000
14:95711748:CCATA:C	donor_gain	1.0000
14:95711800:AATC:A	acceptor_loss	1.0000
14:95711802:TCTGA:T	acceptor_loss	1.0000
14:95711803:CTGAG:C	acceptor_loss	1.0000
14:95711811:C:CT	acceptor_gain	1.0000
14:95711812:A:T	acceptor_gain	1.0000
14:95712215:CTCA:C	donor_loss	1.0000
14:95712217:CACCT:C	donor_loss	1.0000
14:95712218:ACC:A	donor_loss	1.0000
14:95712393:TTAT:T	acceptor_gain	1.0000
14:95712397:C:CC	acceptor_gain	1.0000
14:95712398:T:C	acceptor_loss	1.0000
14:95713941:CTGTA:C	donor_loss	1.0000
14:95713942:TGTAC:T	donor_loss	1.0000
14:95713943:GTAC:G	donor_loss	1.0000
14:95713944:TACCT:T	donor_loss	1.0000
14:95710881:CCT:C	acceptor_loss	0.9900
14:95710882:C:CA	acceptor_loss	0.9900
14:95710883:T:A	acceptor_loss	0.9900
14:95711669:G:GA	donor_gain	0.9900
14:95711747:A:AC	donor_gain	0.9900
14:95711748:C:CC	donor_gain	0.9900
14:95711799:CAAT:C	acceptor_gain	0.9900
14:95711800:AAT:A	acceptor_gain	0.9900
14:95711803:C:CC	acceptor_gain	0.9900
14:95712218:A:AC	donor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000073439 (14:95709597 G>A), RS1000842835 (14:95712895 T>A), RS1001066770 (14:95709522 G>A), RS1001502041 (14:95711903 G>C), RS1001669973 (14:95713419 A>T), RS1002394829 (14:95715674 A>G), RS1002470569 (14:95710806 A>G), RS1002750607 (14:95716001 A>G), RS1003343254 (14:95714489 C>A,G,T), RS1003629427 (14:95715821 T>C), RS1004284957 (14:95712659 T>C), RS1004493748 (14:95716087 T>G), RS1004622618 (14:95711182 G>A,T), RS1005288414 (14:95713704 G>A,C,T), RS1005671823 (14:95709977 T>C,G)

Disease associations

OMIM: gene MIM:186960 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST000813_1	Adverse response to aromatase inhibitors	8.000000e-07
GCST003421_1	Mosaic loss of chromosome Y	6.000000e-11
GCST009066_41	Mosaic loss of chromosome Y (Y chromosome dosage)	4.000000e-18
GCST009066_49	Mosaic loss of chromosome Y (Y chromosome dosage)	4.000000e-08
GCST009067_32	Mosaic loss of chromosome Y (Y chromosome dosage)	2.000000e-106
GCST009375_2	Mosaic loss of chromosome Y (Y chromosome dosage)	6.000000e-31
GCST010002_159	Refractive error	9.000000e-11
GCST90002400_143	Plateletcrit	2.000000e-16

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007783	mosaic loss of chromosome Y measurement
EFO:0007985	platelet crit

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB variants

4 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2369049	TCL1A		0.00	0
rs7158782	TCL1A		0.00	0
rs7159713	TCL1A		0.00	0
rs11849538	TCL1A	3	0.00	1	estradiol

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	1
perfluorooctanoic acid	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	increases methylation, affects methylation	1
Polycyclic Aromatic Hydrocarbons	affects expression	1
Cadmium Chloride	increases expression	1

Cellosaurus cell lines

4 cell lines: 3 embryonic stem cell, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A7F2	SEES3-1V human TCL1A, clone1	Embryonic stem cell	Male
CVCL_A7F3	SEES3-1V human TCL1A, clone2	Embryonic stem cell	Male
CVCL_A7F4	SEES3-1V human TCL1A, clone3	Embryonic stem cell	Male
CVCL_B401	Hair-M	Cancer cell line	Male

Clinical trials (associated diseases)

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