Gene Gene information from NCBI Gene database.
Entrez ID 84905
Gene name Zinc finger protein 341
Gene symbol ZNF341
Synonyms (NCBI Gene)
HIES3
Chromosome 20
Chromosome location 20q11.22
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs376598954 C>G,T Pathogenic Synonymous variant, stop gained, coding sequence variant, intron variant, non coding transcript variant
rs746141726 C>G,T Pathogenic Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs982121798 C>T Pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs1568940507 C>T Pathogenic Stop gained, non coding transcript variant, coding sequence variant
rs1568945329 G>- Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
64
miRTarBase ID miRNA Experiments Reference
MIRT018649 hsa-miR-335-5p Microarray 18185580
MIRT1522847 hsa-miR-1244 CLIP-seq
MIRT1522848 hsa-miR-1245b-3p CLIP-seq
MIRT1522849 hsa-miR-1291 CLIP-seq
MIRT1522850 hsa-miR-150 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: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:0001216 Function DNA-binding transcription activator activity IDA 29907690
GO:0003677 Function DNA binding IDA 29907690
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
618269 15992 ENSG00000131061
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYN7
Protein name Zinc finger protein 341
Protein function Transcriptional activator of STAT3 involved in the regulation of immune homeostasis. Also able to activate STAT1 transcription.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13912 zf-C2H2_6 52 74 Domain
PF00096 zf-C2H2 322 344 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 350 372 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 502 526 Domain
PF00096 zf-C2H2 622 644 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 650 677 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 683 705 Zinc finger, C2H2 type Domain
Sequence
MAQAIFEALEGMDNQTVLAVQSLLDGQGAVPDPTGQSVNAPPAIQPLDDEDVFLCGKCKK
QFNSLPAFMTHKRE
QCQGNAPALATVSLATNSIYPPSAAPTAVQQAPTPANRQISTYITV
PPSPLIQTLVQGNILVSDDVLMSAMSAFTSLDQPMPQGPPPVQSSLNMHSVPSYLTQPPP
PPPPPPPLPPPPPPQPPPPPPQSLGPPGRPNPGGNGVVEVYSAAAPLAGSGTVEIQALGM
QPYPPLEVPNQCVEPPVYPTPTVYSPGKQGFKPKGPNPAAPMTSATGGTVATFDSPATLK
TRRAKGARGLPEAAGKPKAQKLKCSYCDKSFTKNFDLQQHIRSHTGEKPFQCIACGRAFA
QKSNVKKHMQTH
KVWPPGHSGGTVSRNSVTVQVMALNPSRQEDEESTGLGQPLPGAPQPQ
ALSTAGEEEGDKPESKQVVLIDSSYLCQFCPSKFSTYFQLKSHMTQHKNEQVYKCVVKSC
AQTFPKLDTFLEHIKSHQEELSYRCHLCGKDFPSLYDLGVHQYSHSLLPQHSPKKDNAVY
KCVKCVNKYSTPEALEHHLQTATHNFPCPHCQKVFPCERYLRRHLPTHGSGGRFKCQVCK
KFFRREHYLKLHAHIHSGEKPYKCSVCESAFNRKDKLKRHMLIHEPFKKYKCPFSTHTGC
SKEFNRPDKLKAHILSH
SGMKLHKCALCSKSFSRRAHLAEHQRAHTGNYKFRCAGCAKGF
SRHKYLKDHRCRLGPQKDKDLQTRRPPQRRAAPRSCGSGGRKVLTPLPDPLGLEELKDTG
AGLVPEAVPGKPPFAEPDAVLSIVVGGAVGAETELVVPGHAEGLGSNLALAELQAGAEGP
CAMLAVPVYIQASE
Sequence length 854
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
Hyper-IgE recurrent infection syndrome 3, autosomal recessive Likely pathogenic; Pathogenic rs2122686345, rs746141726, rs982121798, rs1568945329, rs376598954, rs1568940507 RCV001824238
RCV000736035
RCV000736036
RCV000736037
RCV000736038
View all (1 more)
★★★★★
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
Familial cancer of breast Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPER-IGE SYNDROME 3, AUTOSOMAL RECESSIVE, WITH RECURRENT INFECTIONS HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Long QT syndrome Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Bronchiectasis Bronchiectasis HPO_DG
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Dermatitis, Atopic Dermatitis HPO_DG
★☆☆☆☆
Found in Text Mining only
Micrognathism Micrognathism HPO_DG
★☆☆☆☆
Found in Text Mining only
Recurrent otitis media Otitis media HPO_DG
★☆☆☆☆
Found in Text Mining only