ZNF335 (zinc finger protein 335)

2014-04-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
MCPH10,NIF-1,NIF1,NIF2
FUSION GENES

Other Information

Locus ID:

NCBI: 63925
MIM: 610827
HGNC: 15807
Ensembl: ENSG00000198026

Variants:

dbSNP: 63925
ClinVar: 63925
TCGA: ENSG00000198026
COSMIC: ZNF335

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198026ENST00000322927Q9H4Z2

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Developmental BiologyREACTOMER-HSA-1266738
Activation of HOX genes during differentiationREACTOMER-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesisREACTOMER-HSA-5617472

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
231781262012Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.42
122155452002NRC-interacting factor 1 is a novel cotransducer that interacts with and regulates the activity of the nuclear hormone receptor coactivator NRC.16
181802992008Components of the CCR4-NOT complex function as nuclear hormone receptor coactivators via association with the NRC-interacting Factor NIF-1.16
239242072013IMAC fractionation in combination with LC-MS reveals H2B and NIF-1 peptides as potential bladder cancer biomarkers.7
259205532016Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.6
275401072016Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.2
296520872018Expanding the clinical spectrum of biallelic ZNF335 variants.1
264795142016Anaesthesia and orphan disease: primary autosomal recessive microcephaly-10 caused by a mutation in the ZNF335 gene.0

Citation

Dessen P

ZNF335 (zinc finger protein 335)

Atlas Genet Cytogenet Oncol Haematol. 2014-04-01

Online version: http://atlasgeneticsoncology.org/gene/53881/znf335