Gene Gene information from NCBI Gene database.
Entrez ID 388558
Gene name Zinc finger protein 808
Gene symbol ZNF808
Synonyms (NCBI Gene)
PAGEN3
Chromosome 19
Chromosome location 19q13.41
miRNA miRNA information provided by mirtarbase database.
65
miRTarBase ID miRNA Experiments Reference
MIRT1540735 hsa-miR-1294 CLIP-seq
MIRT1540736 hsa-miR-1976 CLIP-seq
MIRT1540737 hsa-miR-3064-3p CLIP-seq
MIRT1540738 hsa-miR-3200-3p CLIP-seq
MIRT1540739 hsa-miR-3545-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription cis-regulatory region binding IDA 37973953
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0006355 Process Regulation of DNA-templated transcription IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
620970 33230 ENSG00000198482
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N4W9
Protein name Zinc finger protein 808
Protein function Transcriptional repressor that targets mainly transposable elements (PubMed:37973953). Primarily targets the long terminal repeat of endogenous retroviruses classified as MER11 elements which comprise subfamilies A, B and C (PubMed:37973953). Ma
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 23 64 KRAB box Family
PF00096 zf-C2H2 287 309 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 315 337 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 343 365 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 399 421 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 427 449 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 455 477 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 511 533 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 539 561 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 567 589 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 595 617 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 623 645 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 651 673 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 707 729 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 763 785 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 791 813 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 819 841 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 847 869 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 875 897 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed. {ECO:0000269|PubMed:37973953}.
Sequence
MLREEAAQKRKGKESGMALPQGRLTFRDVAIEFSLAEWKFLNPAQRALYREVMLENYRNL
EAVD
ISSKHMMKEVLSTGQGNREVIHTGTLQRHQSYHIGDFCFQEIEKEIHNIEFQCQED
ERNGHEAPTTKIKKLTGSTDQHDHRHAGNKPIKDQLGSSFYSHLPELHIFQIKGEIANQL
EKSTSDASSVSTSQRISCRPQIHISNNYGNNPLNSSLLPQKQEVHMREKSFPCNESGKAF
NCSSLLRKHQIPHLGDKQYKCDVCGKLFNHKQYLACHRRCHTGEKPYKCKECGKSFSYKS
SLTCHHRLH
TGVKPYKCNECGKVFRQNSALVIHKAIHTGEKPYKCNECGKAFNQQSHLSR
HQRLH
TGVKPYKCKICEKAFACHSYLANHTRIHSGEKTYKCNECGKAFNHQSSLARHHIL
H
TGEKPYKCEECDKVFSQKSTLERHKRIHTGEKPYKCKVCDTAFTCNSQLARHRRIHTGE
KTYKCNECRKTFSRRSSLLCHRRLHSGEKPYKCNQCGNTFRHRASLVYHRRLHTLEKSYK
CTVCNKVFMRNSVLAVHTRIH
TAKKPYKCNECGKAFNQQSHLSRHRRLHTGEKPYKCEAC
DKVFGQKSALESHKRIH
TGEKPYRCQVCDTAFTWNSQLARHTRIHTGEKTYKCNECGKTF
SYKSSLVWHRRLH
GGEKSYKCKVCDKAFVCRSYVAKHTRIHSGMKPYKCNECSKTFSNRS
SLVCHRRIH
SGEKPYKCSECSKTFSQKATLLCHRRLHSGEKPYKCNDCGNTFRHWSSLVY
HRRLH
TGEKSYKCTVCDKAFVRNSYLARHIRIHTAEKPYKCNECGKAFNEQSHLSRHHRI
H
TGEKPYKCEACDKVFSRKSHLKRHRIIHTGEKPYKCNECGKAFSDRSTLIHHQAIHGIG
KFD
Sequence length 903
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Pancreatic agenesis 3 Likely pathogenic rs2514374700 RCV004771541
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Diabetes Mellitus Associate 37897565
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1 Associate 37897565
★☆☆☆☆
Found in Text Mining only