Gene Gene information from NCBI Gene database.
Entrez ID 9534
Gene name Zinc finger protein 254
Gene symbol ZNF254
Synonyms (NCBI Gene)
BMZF-5HD-ZNF1ZNF539ZNF91L
Chromosome 19
Chromosome location 19p12
Summary Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordin
miRNA miRNA information provided by mirtarbase database.
325
miRTarBase ID miRNA Experiments Reference
MIRT020788 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT563681 hsa-miR-200a-5p PAR-CLIP 20371350
MIRT563680 hsa-miR-200b-5p PAR-CLIP 20371350
MIRT563679 hsa-miR-4712-5p PAR-CLIP 20371350
MIRT563678 hsa-miR-770-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 10585455
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604768 13047 ENSG00000213096
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75437
Protein name Zinc finger protein 254 (Bone marrow zinc finger 5) (BMZF-5) (Hematopoietic cell-derived zinc finger protein 1) (HD-ZNF1) (Zinc finger protein 539) (Zinc finger protein 91-like)
Protein function May be involved in transcriptional regulation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01352 KRAB 12 53 KRAB box Family
PF00096 zf-C2H2 210 231 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 266 288 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 294 316 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 322 344 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 350 372 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 378 400 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 406 428 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 434 456 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 462 484 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 490 512 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 518 540 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 546 568 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 574 596 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 602 624 Zinc finger, C2H2 type Domain
Sequence
MPGPPRSLEMGLLTFRDVAIEFSLEEWQHLDIAQQNLYRNVMLENYRNLAFLGIAVSKPD
LITCLEQGKEPWNMKRHEMVDEPPGMCPHFAQDLWPEQGMEDSFQKAILRRYGKYGHENL
QLRKGCKSVDEYKVNKEGYNGLNQCFTTAQSKVFQCDKYLKVFYKFLNSNRPKIRHTEKK
SFKCKKRVKLFCMLSHKTQHKSIYHREKSYKCKECGKTFNWSSTLTNHRKIYTEEKPYKC
EEYNKSPKQLSTLTTHEIIHAGEKLYKCEECGEAFNRSSNLTTHKIIHTGEKPYKCEECG
KAFIWSSTLTEHKKIH
TRKKPYKCEECGKAFIWSSTLTRHKRMHTGEKPYKCEECGKAFS
QSSTLTTHKIIH
TGEKRYKCLECGKAFKQLSTLTTHKIIHVGEKLYKCEECGKGFNRSSN
LTTHKIIH
TGEKPYKCEECGKAFIWSSTLTKHKRIHTREKPYKCEECGKAFIWSSTLTRH
KRMH
TGEKPYKCEECGKSFSQSSTLTTHKIIHTGEKPYKCEECGKAFNWSSTLTKHKIIH
TEEKPYKCEKCGKAFKQSSILTNHKRIHTGEKPYKCEECGKSFNRSSTFTKHKVIHTGVK
PYKCEECGKAFFWSSTLTKHKRIHTGEQPYKWEKFGKAFNRSSHLTTDKITHWREILQV
Sequence length 659
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.).
1
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
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations