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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10522
Gene name	DEAF1 transcription factor
Gene symbol	DEAF1
Synonyms (NCBI Gene)	MRD24NEDHELSNUDRSPNVSVSZMYND5
Chromosome	11
Chromosome location	11p15.5
Summary	This gene encodes a zinc finger domain-containing protein that functions as a regulator of transcription. The encoded proteins binds to its own promoter as well as to that of several target genes. Activity of this protein is important in the regulation of

Show/Hide all (15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs587777406	A>C	Pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs587777408	G>A	Pathogenic	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs587777409	T>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs587777623	G>A	Likely-pathogenic, uncertain-significance	Intron variant, 5 prime UTR variant, missense variant, coding sequence variant
rs751569402	C>T	Uncertain-significance, likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs886040972	T>G	Pathogenic	Intron variant
rs1057519565	C>T	Pathogenic, pathogenic-likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057524157	A>C,T	Likely-pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs1064796407	A>T	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1554943158	CTT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1554944271	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1554944527	G>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs1564950387	A>C	Likely-pathogenic	Splice donor variant
rs1590008294	C>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1590013404	C>T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant

Show/Hide all (49)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024571	hsa-miR-215-5p	Microarray	19074876
MIRT026170	hsa-miR-192-5p	Microarray	19074876
MIRT050256	hsa-miR-25-3p	CLASH	23622248
MIRT048528	hsa-miR-100-5p	CLASH	23622248
MIRT043165	hsa-miR-324-5p	CLASH	23622248
MIRT440830	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT440829	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440830	hsa-miR-210-3p	HITS-CLIP	22473208
MIRT440829	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT2211203	hsa-miR-1207-5p	CLIP-seq
MIRT2211204	hsa-miR-1909	CLIP-seq
MIRT2211205	hsa-miR-4716-3p	CLIP-seq
MIRT2211206	hsa-miR-4723-5p	CLIP-seq
MIRT2211207	hsa-miR-4763-3p	CLIP-seq
MIRT2211203	hsa-miR-1207-5p	CLIP-seq
MIRT2515065	hsa-miR-1291	CLIP-seq
MIRT2515066	hsa-miR-146b-3p	CLIP-seq
MIRT2211204	hsa-miR-1909	CLIP-seq
MIRT2515067	hsa-miR-1915	CLIP-seq
MIRT2515068	hsa-miR-210	CLIP-seq
MIRT2515069	hsa-miR-297	CLIP-seq
MIRT2515070	hsa-miR-31	CLIP-seq
MIRT2515071	hsa-miR-3924	CLIP-seq
MIRT2515072	hsa-miR-4265	CLIP-seq
MIRT2515073	hsa-miR-4296	CLIP-seq
MIRT2515074	hsa-miR-4322	CLIP-seq
MIRT2515075	hsa-miR-433	CLIP-seq
MIRT2515076	hsa-miR-4417	CLIP-seq
MIRT2515077	hsa-miR-455-5p	CLIP-seq
MIRT2515078	hsa-miR-4696	CLIP-seq
MIRT2515079	hsa-miR-4726-3p	CLIP-seq
MIRT2211207	hsa-miR-4763-3p	CLIP-seq
MIRT2515080	hsa-miR-548c-3p	CLIP-seq
MIRT2515081	hsa-miR-567	CLIP-seq
MIRT2515082	hsa-miR-574-3p	CLIP-seq
MIRT2515065	hsa-miR-1291	CLIP-seq
MIRT2515066	hsa-miR-146b-3p	CLIP-seq
MIRT2515068	hsa-miR-210	CLIP-seq
MIRT2515069	hsa-miR-297	CLIP-seq
MIRT2515070	hsa-miR-31	CLIP-seq
MIRT2515071	hsa-miR-3924	CLIP-seq
MIRT2515072	hsa-miR-4265	CLIP-seq
MIRT2515073	hsa-miR-4296	CLIP-seq
MIRT2515074	hsa-miR-4322	CLIP-seq
MIRT2515076	hsa-miR-4417	CLIP-seq
MIRT2515077	hsa-miR-455-5p	CLIP-seq
MIRT2515078	hsa-miR-4696	CLIP-seq
MIRT2515081	hsa-miR-567	CLIP-seq
MIRT2515082	hsa-miR-574-3p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	24726472
GO:0000785	Component	Chromatin	ISA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	24726472
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	24726472
GO:0001650	Component	Fibrillar center	IDA
GO:0001662	Process	Behavioral fear response	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	20368287, 21988832, 22442688, 29636529, 30824926, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19668219
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	19668219
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9773984
GO:0007281	Process	Germ cell development	TAS	9773984
GO:0007399	Process	Nervous system development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008542	Process	Visual learning	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	9773984
GO:0033599	Process	Regulation of mammary gland epithelial cell proliferation	IDA	18826651
GO:0033599	Process	Regulation of mammary gland epithelial cell proliferation	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	24726472
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	24726472
GO:0046872	Function	Metal ion binding	IEA
GO:0048706	Process	Embryonic skeletal system development	IEA
GO:0048706	Process	Embryonic skeletal system development	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA

MIM	HGNC	e!Ensembl
602635	14677	ENSG00000177030

O75398

Protein name

Deformed epidermal autoregulatory factor 1 homolog (Nuclear DEAF-1-related transcriptional regulator) (NUDR) (Suppressin) (Zinc finger MYND domain-containing protein 5)

Protein function

Transcription factor that binds to sequence with multiple copies of 5'-TTC[CG]G-3' present in its own promoter and that of the HNRPA2B1 gene. Down-regulates transcription of these genes. Binds to the retinoic acid response element (RARE) 5'-AGGG

PDB

2JW6 , 4A24 , 5UWW

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01342	SAND	197 → 272	SAND domain	Family
PF01753	zf-MYND	504 → 540	MYND finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in various tissues and cells such as in peripheral mononuclear cells and hormone-secreting pituitary cells. Expression in pancreatic lymph nodes of patients with type 1 diabetes is 20 times higher than in healthy controls. Hi

Sequence

MEDSDSAAKQLGLAEAAAVAAAAAVAAAAAAAAGGEAEEPVLSRDEDSEEDADSEAERET
PRVTAVAVMAAEPGHMDMGAEALPGPDEAAAAAAFAEVTTVTVANVGAAADNVFTTSVAN
AASISGHVLSGRTALQIGDSLNTEKATLIVVHTDGSIVETTGLKGPAAPLTPGPQSPPTP
LAPGQEKGGTKYNWDPSVYDSELPVRCRNISGTLYKNRLGSGGRGRCIKQGENWYSPTEF
EAMAGRASSKDWKRSIRYAGRPLQCLIQDGILNPHAASCTCAACCDDMTLSGPVRLFVPY
KRRKKENELPTTPVKKDSPKNITLLPATAATTFTVTPSGQITTSGALTFDRASTVEATAV
ISESPAQGDVFAGATVQEASVQPPCRASHPEPHYPGYQDSCQIAPFPEAALPTSHPKIVL
TSLPALAVPPPTPTKAAPPALVNGLELSEPRSWLYLEEMVNSLLNTAQQLKTLFEQAKHA
STYREAATNQAKIHADAERKEQSCVNCGREAMSECTGCHKVNYCSTFCQRKDWKDHQHIC
GQSAAVTVQADEVHVAESVMEKVTV

Sequence length

565

Interactions

View interactions

206

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic	rs1564950387	RCV000754682
Autism, susceptiblity to	Pathogenic	rs2133402741	RCV003313021
Autosomal dominant non-syndromic intellectual disability	Likely pathogenic	rs201600076	RCV003153287
DEAF1-related disorder	Likely pathogenic; Pathogenic	rs949860707, rs587777409, rs1417226023, rs587777406, rs1860258814	RCV004728830 RCV003233107 RCV004529102 RCV004528670 RCV004536670
Intellectual disability, autosomal dominant 24	Likely pathogenic; Pathogenic	rs893284652, rs2133402508, rs587777406, rs587777408, rs587777409, rs1417226023, rs2133402700, rs2133384267, rs2133402741, rs2133402368, rs2494454945, rs1415420832, rs1057519565, rs1554944271, rs1057524157 View all (7 more)	RCV001724758 RCV004785333 RCV000119804 RCV000119806 RCV000119807 RCV002222872 RCV002249022 RCV002249859 RCV002250916 RCV002264848 RCV002291469 RCV005254642 RCV000417021 RCV000515532 RCV000515517 RCV000988466 RCV000988469 RCV001171481 RCV001171482 RCV001171483 RCV001171484 RCV001253608
Intellectual disability-epilepsy-extrapyramidal syndrome	Likely pathogenic; Pathogenic	rs753168686, rs587777623, rs2133395081, rs886040972, rs2494378579, rs1057519565, rs1064795813, rs1590028691, rs1860672061, rs1860194524, rs1860257102, rs1858396813, rs1860334710	RCV001591651 RCV000515525 RCV002291311 RCV000258057 RCV003340860 RCV001788214 RCV001171487 RCV006275878 RCV001171479 RCV001171480 RCV001171485 RCV001171486 RCV001251119
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs2133394958, rs1057519565	RCV002274410 RCV002274025
See cases	Pathogenic	rs1057519565	RCV001420245

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs35887544	RCV005901782
Adrenocortical carcinoma, hereditary	Benign	rs10615, rs35887544	RCV005901775 RCV005901786
Cholangiocarcinoma	Benign	rs10615	RCV005901780
Colon adenocarcinoma	Benign	rs35887544	RCV005901781
Colorectal cancer	Benign	rs10615	RCV005901778
Developmental disorder	Conflicting classifications of pathogenicity	rs1590017652	RCV003127573
Hepatocellular carcinoma	Benign	rs35887544	RCV005901783
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity	rs369913079, rs200600001, rs751569402, rs1859982135, rs1219925185, rs1421361308	RCV005626438 RCV005626572 RCV001260604 RCV001252465 RCV001252464 RCV001260878
Lung cancer	Benign	rs35887544	RCV005901793
Malignant lymphoma, large B-cell, diffuse	Benign	rs10615	RCV005901777
Malignant tumor of esophagus	Benign	rs35887544	RCV005901784
Melanoma	Benign	rs35887544	RCV005901792
Nonpapillary renal cell carcinoma	Benign	rs35887544	RCV005901785
Ovarian serous cystadenocarcinoma	Benign	rs35887544	RCV005901789
Prostate cancer	Uncertain significance	rs193920740	RCV000149279
Sarcoma	Likely benign; Uncertain significance; Benign	rs370799615, rs371722695, rs35887544	RCV005925683 RCV005925704 RCV005901788
Thyroid cancer, nonmedullary, 1	Benign	rs35887544	RCV005901791
Uterine carcinosarcoma	Benign	rs10615, rs35887544	RCV005901779 RCV005901790
Uveal melanoma	Benign	rs10615, rs35887544	RCV005901776 RCV005901787

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Autoimmune Diseases of the Nervous System	Associate	25531106
Breast Neoplasms	Associate	34867821
Carcinoma Non Small Cell Lung	Inhibit	36969247
Hypersensitivity Delayed	Associate	30923367
Intellectual Disability	Associate	26743651, 28940898
Lung Neoplasms	Associate	36969247
Lymphoma Large B Cell Diffuse	Associate	38133926
Mental Disorders	Associate	22328058
Microcephaly	Associate	30923367
Microcephaly with Mental Retardation and Digital Anomalies	Associate	28940898
Neoplasms	Associate	10521432
Neoplasms	Inhibit	36969247
Neuroblastoma	Associate	16467535
Neuroendocrine Tumors	Associate	30030118
Neuronal Ceroid Lipofuscinoses	Associate	7887419
Osteoarthritis	Associate	23825960

DEAF1 (DEAF1 transcription factor)