MLLT6
protein-codingMLLT6, PHD finger containing, the group of PHD finger proteins|MicroRNA protein coding host genes
Gene summary
Enables histone binding activity and nucleosome binding activity. Predicted to be involved in chromatin remodeling and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including renal potassium excretion; renal sodium excretion; and renal water absorption. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~24.5 kbGenCC 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 MLLT6 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_005937.4. 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 | 3 | 2 | 5 | |||
| missense | 130 | 2 | 132 | |||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 4 | 4 | ||||
| Total | 0 | 0 | 140 | 2 | 2 | 144 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_005928.2 | 20 | MANE Select | |
| Ensembl | ENSP00000479910.1 | 20 | MANE Select | |
| Ensembl | ENSP00000479766.1 | 6 | Standard | |
| Ensembl | ENSP00000482928.1 | 9 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Biological Process
- regulation of transcription, DNA-templated
- positive regulation of sodium ion transport
- negative regulation of urine volume
- renal sodium excretion
- renal potassium excretion
Molecular Function
- protein binding
- nucleosome binding
- histone binding
- metal ion binding
Cellular Component
- nucleus
dbNSFP Gene Annotations
Source:
- Disease
- DISEASE: Note=A chromosomal aberration involving MLLT6 is associated with acute leukemias. Translocation t(11;17)(q23;q21) with KMT2A/MLL1. The result is a rogue activator protein.;
Recessive Scores
- pRec
- 0.154
Intolerance Scores
- LoFtool
- 0.139
- RVIS EVS
- -0.02
- RVIS percentile EVS
- 52.25
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.746
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |