TCL1B

protein-coding

TCL1 family AKT coactivator B

Gene summary

Enables protein kinase binding activity and protein serine/threonine kinase activator activity. Involved in intracellular signal transduction. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_004918.4

Inheritance

—

ClinVar variants

U:20B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.54

Max pathogenic AF

—

Genomic locus

chr14:95,686,426-95,692,628

External References & Databases

Ensembl (ENSG00000213231)

Transcript & Mutation Effects

hg38 • Region Span ~6.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TCL1B variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 23

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_004918.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			19 clinvar	4 clinvar		23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	20	4	0	24

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_004918.4	RefSeq	NP_004909.1	3	MANE Select
ENST00000340722.8	Ensembl	ENSP00000343223.6	3	MANE Select
ENST00000916734.1	Ensembl	ENSP00000586793.1	3	Standard
ENST00000916735.1	Ensembl	ENSP00000586794.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

PI3K-Akt signaling pathway - Homo sapiens (human)
Focal Adhesion-PI3K-Akt-mTOR-signaling pathway
PI3K-Akt Signaling Pathway

Biological Process

positive regulation of cell population proliferation
positive regulation of peptidyl-serine phosphorylation
positive regulation of protein serine/threonine kinase activity

Molecular Function

protein kinase binding
protein serine/threonine kinase activator activity

Cellular Component

protein-containing complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340722
Coding exons: 3
Length: 6227
Individuals with no LoFs: 125369
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125371
p: 0.00000798

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.212	76	81.4	0.934	0.00000506	819
Missense (PolyPhen)		24	23.765	1.0099		267
Synonymous	-2.29	51	34.0	1.50	0.00000223	259
Loss of Function	1.15	4	7.38	0.542	4.03e-7	64

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Enhances the phosphorylation and activation of AKT1 and AKT2. {ECO:0000269|PubMed:10983986}.;

Recessive Scores

pRec: 0.0920

Intolerance Scores

LoFtool: 0.535
RVIS EVS: 0.81
RVIS percentile EVS: 87.82

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.697

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium