Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
347344
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 81
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF81
Synonyms (NCBI Gene) Gene synonyms aliases
HFZ20, MRX45, dJ54B20.6
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xp11.23
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
314998 13156 ENSG00000197779
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Mental retardation non-syndromic X-linked intellectual disability, X-linked intellectual disability, intellectual disability, X-linked 45 N/A N/A GenCC
Mental Retardation, X-Linked Intellectual disability, X-linked 45 N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Developmental Disabilities Associate 30559312
Intellectual Disability Associate 23871722
Mental Retardation X Linked Associate 16385466