ZBTB7A

Chr 19AD

zinc finger and BTB domain containing 7A

Also known as: FBI-1, FBI1, LRF, MNDLFH, TIP21, ZBTB7, ZNF857A, pokemon

NCBI Gene: 51341 ENSG00000178951 UniProt: O95365 OMIM: 605878

The ZBTB7A protein is a transcription factor that represses genes involved in cell proliferation, differentiation, and the switch from fetal to adult hemoglobin expression during red blood cell development. Mutations cause autosomal dominant macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin. This gene is highly constrained against loss-of-function variants, with primary involvement of the nervous system, immune system, and hematopoietic system.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables several functions, including SMAD binding activity; nuclear androgen receptor binding activity; and transcription corepressor binding activity. Involved in several processes, including erythrocyte maturation; negative regulation of signal transduction; and regulation of nucleobase-containing compound metabolic process. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobinMIM #619769

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.33

LOEUF· LoF intol.

LOF

Mechanism· G2P