| Tdark | Zinc finger protein 674 |
May be involved in transcriptional regulation.
This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
This gene encodes a zinc finger protein with an N-terminal Kruppel-associated box-containing (KRAB) domain and 11 Kruppel-type C2H2 zinc finger domains. Like other zinc finger proteins, this gene may function as a transcription factor. This gene resides on an area of chromosome X that has been implicated in nonsyndromic X-linked mental retardation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]
Comments
| Disease | Target Count |
|---|---|
| Mental Retardation, X-Linked | 23 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Intellectual disability | 573 | 3.905 | 2.0 |
| Fundus dystrophy | 77 | 3.847 | 1.9 |
| Tuberous sclerosis | 18 | 3.024 | 1.5 |
| PMID | Text | |
|---|---|---|
| 22126752 | These findings question the responsibility of ZNF674 deletions in intellectual disability (ID) associated with X-linked retinal dystrophy. | |
| 16385466 | Identification of ZNF674 as the third X-linked mental retardation gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning. |
MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHLVSVGHLVGKPDVIFRLGPGDESWMAD 1 - 70 GGTPVRTCAGEDRPEVWEVDEQIDHYKESQDKFLWQAAFIGKETLKDESGQECKICRKIIYLNTDFVSVK 71 - 140 QRLPKYYSWERCSKHHLNFLGQNRSYVRKKDDGCKAYWKVCLHYNLHKAQPAERFFDPNQRGKALHQKQA 141 - 210 LRKSQRSQTGEKLYKCTECGKVFIQKANLVVHQRTHTGEKPYECCECAKAFSQKSTLIAHQRTHTGEKPY 211 - 280 ECSECGKTFIQKSTLIKHQRTHTGEKPFVCDKCPKAFKSSYHLIRHEKTHIRQAFYKGIKCTTSSLIYQR 281 - 350 IHTSEKPQCSEHGKASDEKPSPTKHWRTHTKENIYECSKCGKSFRGKSHLSVHQRIHTGEKPYECSICGK 351 - 420 TFSGKSHLSVHHRTHTGEKPYECRRCGKAFGEKSTLIVHQRMHTGEKPYKCNECGKAFSEKSPLIKHQRI 421 - 490 HTGERPYECTDCKKAFSRKSTLIKHQRIHTGEKPYKCSECGKAFSVKSTLIVHHRTHTGEKPYECRDCGK 491 - 560 AFSGKSTLIKHQRSHTGDKNL 561 - 581 //
| PMID | Year | Title | |
|---|---|---|---|
| 23871722 | 2013 | XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. | |
| 22126752 | 2012 | Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? | |
| 16385466 | 2006 | ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 15772651 | 2005 | The DNA sequence of the human X chromosome. | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 11181995 | 2001 | The sequence of the human genome. |
