Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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]

Show/Hide all (30)

miRTarBase ID	miRNA	Experiments
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
MIRT1538399	hsa-miR-16	CLIP-seq
MIRT1538400	hsa-miR-195	CLIP-seq
MIRT1538401	hsa-miR-3934	CLIP-seq
MIRT1538402	hsa-miR-424	CLIP-seq
MIRT1538403	hsa-miR-497	CLIP-seq
MIRT1538404	hsa-miR-580	CLIP-seq
MIRT1538405	hsa-miR-646	CLIP-seq
MIRT1538406	hsa-miR-664	CLIP-seq
MIRT1538407	hsa-miR-764	CLIP-seq
MIRT1538408	hsa-miR-889	CLIP-seq
MIRT2162664	hsa-miR-1208	CLIP-seq
MIRT2162665	hsa-miR-181a	CLIP-seq
MIRT2162666	hsa-miR-181b	CLIP-seq
MIRT2162667	hsa-miR-181c	CLIP-seq
MIRT2162668	hsa-miR-181d	CLIP-seq
MIRT2162669	hsa-miR-1827	CLIP-seq
MIRT2162670	hsa-miR-194	CLIP-seq
MIRT2162671	hsa-miR-3143	CLIP-seq
MIRT2162672	hsa-miR-4262	CLIP-seq
MIRT2162673	hsa-miR-4316	CLIP-seq
MIRT2162674	hsa-miR-4420	CLIP-seq
MIRT2162675	hsa-miR-4528	CLIP-seq
MIRT2162676	hsa-miR-543	CLIP-seq
MIRT2381780	hsa-miR-3074-3p	CLIP-seq
MIRT2381781	hsa-miR-622	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
KLF4	Unknown	25228645
TP63	Unknown	22922031

Show/Hide all (25)

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
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	22364861
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22364861, 32042337
GO:0005634	Component	Nucleus	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008544	Process	Epidermis development	IBA
GO:0008544	Process	Epidermis development	IMP	22364861
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010719	Process	Negative regulation of epithelial to mesenchymal transition	IMP	32042337
GO:0030154	Process	Cell differentiation	IEA
GO:0044091	Process	Membrane biogenesis	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	22364861
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	27907090
GO:0046872	Function	Metal ion binding	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:1990841	Function	Promoter-specific chromatin binding	IBA
GO:1990841	Function	Promoter-specific chromatin binding	IDA	27907090
GO:2000304	Process	Positive regulation of ceramide biosynthetic process	IEA

MIM	HGNC	e!Ensembl
610226	25843	ENSG00000141579

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

	Reactome
			Generic Transcription Pathway

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)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Seborrhea-like dermatitis with psoriasiform elements	Pathogenic	rs1322527075	RCV000001358	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY, MICROCEPHALY, MUSCLE WEAKNESS, OPTIC ATROPHY SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Variant of unknown significance	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZNF750-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	38066300	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30012096, 35794688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	29890464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35794688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis Seborrheic	Seborrheic dermatitis	Pubtator	22936986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28608921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25839328, 27749841, 30012096, 32042337, 32341351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29216641	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	BEFREE	22922031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29216641, 33185885	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28608921, 29416636, 29890464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Squamous Cell Neoplasm	Neoplasm	BEFREE	27819679		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33185885	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	30518868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27819679, 28558382, 29113187, 29216641, 29890464, 31545271		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oropharyngeal Neoplasms	Oropharyngeal neoplasm	Pubtator	26949921	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	27302879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37047491	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasiform eczema	Psoriasiform eczema	BEFREE	22185198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	18256691, 22185198, 24005976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	LHGDN	18256691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	22185198, 22936986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26728569		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Adenocarcinoma	Sebaceous Adenocarcinoma	BEFREE	31148199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	29760388, 36735267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	31148199	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seborrhea-Like Dermatitis with Psoriasiform Elements	Seborrhea-Like Dermatitis With Psoriasiform Elements	ORPHANET_DG	16751772		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrhea-Like Dermatitis with Psoriasiform Elements	Seborrhea-Like Dermatitis With Psoriasiform Elements	GENOMICS_ENGLAND_DG	16751772, 22185198		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrhea-like dermatitis with psoriasiform elements	Seborrhea-Like Dermatitis With Psoriasiform Elements	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrhea-Like Dermatitis with Psoriasiform Elements	Seborrhea-Like Dermatitis With Psoriasiform Elements	CTD_human_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	22936986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	27819679, 29113187, 29416636, 29890464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25839328, 28558382, 28608921, 28789412, 29216641, 30528923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31545271	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZNF750 (zinc finger protein 750)