ZNF81: Zinc Finger Protein 81
A C2H2-type zinc finger transcription factor implicated in X-linked intellectual disability and neurodevelopmental disorders.
Gene Information Card
| Symbol | ZNF81 |
|---|---|
| Full Name | Zinc Finger Protein 81 |
| Gene Type | Protein coding |
| Chromosomal Location | Xp22.11 |
| NCBI Gene ID | 347344 ncbi.nlm.nih.gov/gene/347344 |
| Ensembl ID | ENSG00000197756 |
| UniProt ID | P51508 |
| OMIM ID | 314998 |
| HGNC ID | 13161 |
| Aliases | HFZ20, ZNF-81, Zfp-81 |
Description
ZNF81 encodes a C2H2-type zinc finger protein that functions as a transcription factor. It is located on the X chromosome and is involved in transcriptional regulation during neurodevelopment. Mutations in ZNF81 are associated with X-linked intellectual disability (XLID) and other neurodevelopmental phenotypes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations impair transcriptional regulation of target genes involved in neuronal development and synaptic function. | ClinVar; PMID: 21365482 |
| Intellectual developmental disorder, X-linked 45 | Missense and nonsense variants in ZNF81 disrupt DNA-binding or protein stability, leading to haploinsufficiency. | OMIM #314998; PMID: 21365482 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Thyroid | 6.1 | Low |
| Adrenal gland | 5.4 | Low |
| Lung | 4.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| HEK293 (embryonic kidney) | 7.8 | Common expression system |
| HeLa (cervical carcinoma) | 5.3 | Low expression |
| K562 (leukemia) | 3.9 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358*) | Nonsense | <0.01% | Premature stop; loss of function |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Alters zinc finger domain; reduced DNA binding |
| c.1489_1490del (p.Leu497fs) | Frameshift | <0.01% | Frameshift; truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent protein, causing haploinsufficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Not described; X-linked recessive inheritance pattern.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcriptional regulation by ZNF81 (Reactome: R-HSA-212436)
• X-linked intellectual disability pathways (KEGG: hsa05034)
Protein Summary
ZNF81 is a 647-amino acid protein containing 18 C2H2-type zinc finger domains. It localizes to the nucleus and binds specific DNA sequences to regulate transcription. The protein is highly expressed in brain tissues and is critical for normal cognitive development. Pathogenic variants cause X-linked intellectual disability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF81 Knockout HEK293 Cell Line | EDJ-KQ6059 | Human | 347344 | Details Get a Quote |
| ZNF816 Knockout HEK293 Cell Line | EDJ-KQ8059 | Human | 125893 | Details Get a Quote |
| ZNF813 Knockout HEK293 Cell Line | EDJ-KQ8850 | Human | 126017 | Details Get a Quote |
| ZNF814 Knockout HEK293 Cell Line | EDJ-KQ11585 | Human | 730051 | Details Get a Quote |
| ZNF816 Knockout HCT 116 Cell Line | EDJ-KQ35126 | Human | 125893 | Details Get a Quote |
| ZNF816 Knockout HeLa Cell Line | EDJ-KQ35127 | Human | 125893 | Details Get a Quote |
| ZNF813 Knockout HeLa Cell Line | EDJ-KQ35164 | Human | 126017 | Details Get a Quote |
| ZNF814 Knockout A-549 Cell Line | EDJ-KQ39920 | Human | 730051 | Details Get a Quote |
| ZNF814 Knockout HCT 116 Cell Line | EDJ-KQ39921 | Human | 730051 | Details Get a Quote |
| ZNF814 Knockout HeLa Cell Line | EDJ-KQ39922 | Human | 730051 | Details Get a Quote |
| ZNF81 Knockout A-549 Cell Line | EDJ-KQ29743 | Human | 347344 | Details Get a Quote |
| ZNF81 Knockout HCT 116 Cell Line | EDJ-KQ29744 | Human | 347344 | Details Get a Quote |
| ZNF81 Knockout HeLa Cell Line | EDJ-KQ29745 | Human | 347344 | Details Get a Quote |
| ZNF816-ZNF321P Knockout HEK293 Cell Line | EDJ-KQ52496 | Human | 100529240 | Details Get a Quote |
| ZNF816-ZNF321P Knockout HeLa Cell Line | EDJ-KQ60959 | Human | 100529240 | Details Get a Quote |
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