Gene Gene information from NCBI Gene database.
Entrez ID 347344
Gene name Zinc finger protein 81
Gene symbol ZNF81
Synonyms (NCBI Gene)
HFZ20MRX45dJ54B20.6
Chromosome X
Chromosome location Xp11.23
Summary This gene encodes a protein that likely functions as a transcription factor. The protein contains an N-terminal KRAB domain and several C2H2-type zinc finger motifs. Mutations in this gene cause an X-linked form of intellectual disability (MRX45). Microdu
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs41312157 A>G Likely-benign, conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
418
miRTarBase ID miRNA Experiments Reference
MIRT029112 hsa-miR-26b-5p Microarray 19088304
MIRT529662 hsa-miR-548ae-3p PAR-CLIP 22012620
MIRT529661 hsa-miR-548ah-3p PAR-CLIP 22012620
MIRT529660 hsa-miR-548aj-3p PAR-CLIP 22012620
MIRT529659 hsa-miR-548am-3p PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
314998 13156 ENSG00000197779
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51508
Protein name Zinc finger protein 81 (HFZ20)
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 20 61 KRAB box Family
PF00096 zf-C2H2 330 352 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 358 380 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 386 408 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 414 436 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 442 464 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 470 492 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 498 520 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 526 548 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 554 576 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 582 604 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 610 632 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 638 660 Zinc finger, C2H2 type Domain
Sequence
MPANEDAPQPGEHGSACEVSVSFEDVTVDFSREEWQQLDSTQRRLYQDVMLENYSHLLSV
G
FEVPKPEVIFKLEQGEGPWTLEGEAPHQSCSDGKFGIKPSQRRISGKSTFHSEMEGEDT
RDDSLYSILEELWQDAEQIKRCQEKHNKLLSRTTFLNKKILNTEWDYEYKDFGKFVHPSP
NLILSQKRPHKRDSFGKSFKHNLDLHIHNKSNAAKNLDKTIGHGQVFTQNSSYSHHENTH
TGVKFCERNQCGKVLSLKHSLSQNVKFPIGEKANTCTEFGKIFTQRSHFFAPQKIHTVEK
PHELSKCVNVFTQKPLLSIYLRVHRDEKLYICTKCGKAFIQNSELIMHEKTHTREKPYKC
NECGKSFFQVSSLLRHQTTH
TGEKLFECSECGKGFSLNSALNIHQKIHTGERHHKCSECG
KAFTQKSTLRMHQRIH
TGERSYICTQCGQAFIQKAHLIAHQRIHTGEKPYECSDCGKSFP
SKSQLQMHKRIH
TGEKPYICTECGKAFTNRSNLNTHQKSHTGEKSYICAECGKAFTDRSN
FNKHQTIH
TGEKPYVCADCGRAFIQKSELITHQRIHTTEKPYKCPDCEKSFSKKPHLKVH
QRIH
TGEKPYICAECGKAFTDRSNFNKHQTIHTGDKPYKCSDCGKGFTQKSVLSMHRNIH
T
Sequence length 661
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Conflicting classifications of pathogenicity rs41312157 RCV005889442
Familial cancer of breast Conflicting classifications of pathogenicity rs41312157 RCV005889441
Gastric cancer Conflicting classifications of pathogenicity rs41312157 RCV005889444
History of neurodevelopmental disorder Benign; Likely benign rs183846665, rs148626389, rs113131552 RCV000720931
RCV000721046
RCV000721084
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 30559312
Intellectual Disability Associate 23871722
Mental Retardation X Linked Associate 16385466