Gene Gene information from NCBI Gene database.
Entrez ID 57209
Gene name Zinc finger protein 248
Gene symbol ZNF248
Synonyms (NCBI Gene)
bA162G10.3
Chromosome 10
Chromosome location 10p11.21
miRNA miRNA information provided by mirtarbase database.
252
miRTarBase ID miRNA Experiments Reference
MIRT020559 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT024704 hsa-miR-215-5p Microarray 19074876
MIRT026187 hsa-miR-192-5p Microarray 19074876
MIRT020559 hsa-miR-155-5p HITS-CLIP 22473208
MIRT020559 hsa-miR-155-5p HITS-CLIP 22473208
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:0000977 Function RNA polymerase II transcription 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:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
621128 13041 ENSG00000198105
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NDW4
Protein name Zinc finger protein 248
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 7 48 KRAB box Family
PF00096 zf-C2H2 380 402 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 408 430 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 436 458 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 464 486 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 492 514 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 520 542 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 548 570 Zinc finger, C2H2 type Domain
Sequence
MNKSQEQVSFKDVCVDFTQEEWYLLDPAQKILYRDVILENYSNLVSVGYCITKPEVIFKI
EQGEEPWILEKGFPSQCHPERKWKVDDVLESSQENEDDHFWELLFHNNKTVSVENGDRGS
KTFNLGTDPVSLRNYPYKICDSCEMNLKNISGLIISKKNCSRKKPDEFNVCEKLLLDIRH
EKIPIGEKSYKYDQKRNAINYHQDLSQPSFGQSFEYSKNGQGFHDEAAFFTNKRSQIGET
VCKYNECGRTFIESLKLNISQRPHLEMEPYGCSICGKSFCMNLRFGHQRALTKDNPYEYN
EYGEIFCDNSAFIIHQGAYTRKILREYKVSDKTWEKSALLKHQIVHMGGKSYDYNENGSN
FSKKSHLTQLRRAHTGEKTFECGECGKTFWEKSNLTQHQRTHTGEKPYECTECGKAFCQK
PHLTNHQRTH
TGEKPYECKQCGKTFCVKSNLTEHQRTHTGEKPYECNACGKSFCHRSALT
VHQRTH
TGEKPFICNECGKSFCVKSNLIVHQRTHTGEKPYKCNECGKTFCEKSALTKHQR
TH
TGEKPYECNACGKTFSQRSVLTKHQRIHTRVKALSTS
Sequence length 579
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Generic Transcription Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Asthma Associate 27238579
★☆☆☆☆
Found in Text Mining only
Head and Neck Neoplasms Associate 37254212
★☆☆☆☆
Found in Text Mining only
Leukemia T Cell Inhibit 9396811
★☆☆☆☆
Found in Text Mining only
Oropharyngeal Neoplasms Associate 21514414
★☆☆☆☆
Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck Associate 21514414
★☆☆☆☆
Found in Text Mining only