Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
ZIC2 Zic family member 2	HPE5	Homo sapiens	3	protein-coding	ZNF76 , GLIS2 , MTF1 , ZIC3 , ZIC5 , ZIC4 , ZIC1		603073

Summary

This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]

GeneOntology

Function (1)

Go ID	Value	Evidence
0003677	enables DNA binding	ISS

Component (5)

Go ID	Value	Evidence
0005737	located_in cytoplasm	ISS
0016604	located_in nuclear body	IDA
0005654	located_in nucleoplasm	IDA
0005634	is_active_in nucleus	IBA
0005634	located_in nucleus	ISS

Process (8)

Go ID	Value	Evidence
0007420	involved_in brain development	TAS
0030154	involved_in cell differentiation	IEA
0007417	involved_in central nervous system development	IBA
0045892	involved_in negative regulation of DNA-templated transcription	ISS
0051091	involved_in positive regulation of DNA-binding transcription factor activity	ISS
0045893	involved_in positive regulation of DNA-templated transcription	ISS
0006357	involved_in regulation of transcription by RNA polymerase II	IBA
0007601	involved_in visual perception	ISS

Gene Loss events - ZIC2 (1 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_DBAWBH	Carlito syrichta	Primates	Gene deletion	Full	No	10.1093/icb/icy004