ZNF750 (zinc finger protein 750)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 79755
Gene name Zinc finger protein 750
Gene symbol ZNF750
Synonyms (NCBI Gene)
SLDPEZFP750
Chromosome 17
Chromosome location 17q25.3
Summary This gene encodes a protein with a nuclear localization site and a C2H2 zinc finger domain. Mutations in this gene have been associated with seborrhea-like dermatitis with psoriasiform elements. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1538394 hsa-miR-1253 CLIP-seq
MIRT1538395 hsa-miR-125a-3p CLIP-seq
MIRT1538396 hsa-miR-129-5p CLIP-seq
MIRT1538397 hsa-miR-15a CLIP-seq
MIRT1538398 hsa-miR-15b CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
KLF4 Unknown 25228645
TP63 Unknown 22922031
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 32042337
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 22364861, 32042337
GO:0001227 Function DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 32042337
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610226 25843 ENSG00000141579
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q32MQ0
Protein name Zinc finger protein 750
Protein function Transcription factor involved in epidermis differentiation. Required for terminal epidermal differentiation: acts downstream of p63/TP63 and activates expression of late epidermal differentiation genes. Specifically binds to the promoter of KLF4
PDB 8SXM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15269 zf-C2H2_7 5 → 58 Zinc-finger Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the skin, prostate, lung, placenta and thymus, and at low level in T-cells. Not expressed in peripheral blood leukocytes, pancreas and brain. Clearly expressed in primary keratinocytes but not in fibroblasts. {ECO:0000269|
Sequence 
MSLLKERKPKKPHYIPRPPGKPFKYKCFQCPFTCNEKSHLFNHMKYGLCKNSITLVSEQD
RVPKCPKSNSLDPKQTNQPDATAKPASSKSVANGLSAFDSKLQHSSAREDIKENLELQAR
GTHRCLGQKPALHRASPCKSPAPEAALGAQPALEGAARPSAFVPVGEHRLKGPDNAEAPE
TLALHNPTAKAVSFHTKSAFHTPGYPWKAGSPFLPPEFPHKISSTKGLGAISPYMHPTIP
EYPPHFYTEHGLATIYSPYLLAGSSPECDAPLLSVYGTQDPRHFLPHPGPIPKHLAPSPA
TYDHYRFFQQYPSNLPIPYGFYRPESAFSSYGLRLPPVTGLTRDQSSHLLEEATLVYPAS
SPSRLNPSDPNRKHVEFESPIPEAKDSSKAGQRDTEGSKMSPRAGSAATGSPGRPSPTDF
MQTSQTCEGLYDLSNKAASSALGRLYPPEQSLTAFRPVKKSTECLPAQAAETTAESPVSL
NVVNGDPPAPTGSASLVSEAAPSSPDDSSGMGPLNLSKKSEINLAATHEPTYQGSPQAET
ASFSELQDLPLNLSVKDPCNTQAPRPAFPGRPRAAEPAAAVPQKTGTEGSEDGPSHPETK
PGSLDGDGAPPTGPGEEAPDACAVDSSEEQKQTAAVALCQLAAYSPRNIRVGDGDAAAPE
PACRQDTPTLSSMESQEAQCDLRPKGQKRTSLRDAGKSQQGAKKAKLQDTARVFTLRRRA
RVS
Sequence length 723
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Generic Transcription Pathway
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Seborrhea-like dermatitis with psoriasiform elements Pathogenic rs1322527075 RCV000001358
Show/Hide Unknown Diseases (4)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lung cancer Likely benign rs201882140 RCV005904442
Ovarian serous cystadenocarcinoma Likely benign rs201882140 RCV005904441
Variant of unknown significance Uncertain significance rs191852873 RCV000030772
ZNF750-related disorder Benign; Likely benign rs147504960, rs35653278, rs149980253, rs756774867, rs8074277, rs758289635, rs138391103, rs151106442, rs201882140 RCV003979782
RCV003977377
RCV003931810
RCV003934746
RCV003982150
RCV003978965
RCV003968113
RCV003910417
RCV003920625
Show/Hide Text Mining Associations (24)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 38066300
Calcinosis Cutis Inhibit 37047491
Carcinogenesis Associate 30012096, 35794688
Colonic Neoplasms Associate 35794688
Dermatitis Seborrheic Associate 22936986
Disease Associate 33185885
Esophageal Neoplasms Associate 28608921
Esophageal Squamous Cell Carcinoma Associate 25839328, 27749841, 30012096, 32042337, 32341351
Esophageal Squamous Cell Carcinoma Inhibit 29216641
Hay Wells syndrome Associate 22922031