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The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]
ZNF778 (Zinc Finger Protein 778) is a Protein Coding gene. Diseases associated with ZNF778 include 16Q24.3 Microdeletion Syndrome and Kbg Syndrome. Among its related pathways are Gene Expression and Herpes simplex virus 1 infection. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is ZNF560.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0043565 | sequence-specific DNA binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gene Expression |
.48
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2 | Herpes simplex virus 1 infection |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | |||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF778 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zfp26 30 17 |
|
||
Zfp560 31 |
|
ManyToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Zfp26 30 |
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||
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708197 | Benign: not provided | 89,227,116(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
708239 | Benign: not provided | 89,227,872(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
712325 | Likely Benign: not provided | 89,222,140(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
rs150830617 | Benign: not specified | 89,224,749(+) | A/G | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT | |
rs760873642 | Uncertain Significance: Microcephaly; Seizures; Global developmental delay; Obesity | 89,228,182(+) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3066n100 | CNV | gain | 25217958 |
esv1006131 | CNV | deletion | 20482838 |
esv2665882 | CNV | deletion | 23128226 |
esv2763149 | CNV | gain | 21179565 |
esv3304105 | CNV | mobile element insertion | 20981092 |
esv3441548 | CNV | insertion | 20981092 |
esv3639571 | CNV | loss | 21293372 |
esv3892939 | CNV | loss | 25118596 |
nsv1063024 | CNV | gain | 25217958 |
nsv428331 | CNV | gain+loss | 18775914 |
nsv457622 | CNV | loss | 19166990 |
nsv469681 | CNV | loss | 16826518 |
nsv482951 | CNV | loss | 15286789 |
nsv509638 | CNV | insertion | 20534489 |
nsv573674 | CNV | gain | 21841781 |
nsv573734 | CNV | loss | 21841781 |
nsv827843 | CNV | gain | 20364138 |
nsv827844 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
16q24.3 microdeletion syndrome |
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kbg syndrome |
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solitary median maxillary central incisor |
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autism |
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ureterocele |
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