ZFPM2 zinc finger protein, FOG family member 2

Gene info

Synonyms

FOG2, hFOG-2, ZNF89B, ZC2HC11B

Previous symbol

None

External ID

HGNC: 16700
Entrez Gene: 23414
Ensembl: ENSG00000169946
UCSC: uc003ymd.4
OMIM: 603693
UniProtKB: Q8WW38

Disease info

Disease

CHD Phenotype

  • Tetralogy of fallot
  • Transposition of the great arteries
  • Double outlet right ventricle

Extra Cardiac Phenotype

None

Incomplete penetrance

Yes

Variable expressivity

Yes

Animal model

Mouse study

MGI: Mice homozygous for a single base mutation or homozygous for a null allele have CHD

MGI ID

1334444

Variant info

Clinvar

ZFPM2

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for ZFPM2: BED file

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Selected References

  1. Pizzuti, A., Sarkozy, A., Newton, A. L., Conti, E., Flex, E., Cristina Digilio, M., Amati, F., Gianni, D., Tandoi, C., Marino, B., Crossley, M., & Dallapiccola, B. (2003). Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. Human Mutation, 22(5), 372–377. https://doi.org/10.1002/humu.10261 DOI:10.1002/humu.10261 PMID:14517948
  2. Zhang, W., Shen, L., Deng, Z., Ding, Y., Mo, X., Xu, Z., Gao, Q., & Yi, L. (2014). Novel Missense Variants of ZFPM2/FOG2 Identified in Conotruncal Heart Defect Patients Do Not Impair Interaction with GATA4. PLoS ONE, 9(7), e102379. https://doi.org/10.1371/journal.pone.0102379 DOI:10.1371/journal.pone.0102379 PMID:25025186