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	63925
Gene name	Zinc finger protein 335
Gene symbol	ZNF335
Synonyms (NCBI Gene)	MCPH10NIF-1NIF1NIF2
Chromosome	20
Chromosome location	20q13.12
Summary	The protein encoded by this gene enhances transcriptional activation by ligand-bound nuclear hormone receptors. However, it does this not by direct interaction with the receptor, but by direct interaction with the nuclear hormone receptor transcriptional

Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114864530	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, non coding transcript variant, missense variant
rs141812371	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, synonymous variant, downstream transcript variant, non coding transcript variant, missense variant
rs145110365	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs148186790	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs190178539	T>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, non coding transcript variant
rs200635860	T>C	Pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs397514642	C>A,T	Pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs749190523	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs753460205	TCAC>-	Pathogenic	Downstream transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs753888773	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs768092083	G>A	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, missense variant, coding sequence variant, downstream transcript variant
rs773283542	AAG>-	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, inframe deletion
rs797046124	->TGGC	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1234838549	C>T	Likely-pathogenic	Splice acceptor variant
rs1334014929	AAAC>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1350201776	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant, non coding transcript variant
rs1555851216	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1568822376	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all (23)

miRTarBase ID	miRNA	Experiments
MIRT1522605	hsa-miR-150	CLIP-seq
MIRT1522606	hsa-miR-1972	CLIP-seq
MIRT1522607	hsa-miR-4713-5p	CLIP-seq
MIRT1522608	hsa-miR-4768-5p	CLIP-seq
MIRT1522609	hsa-miR-513a-3p	CLIP-seq
MIRT1522610	hsa-miR-532-3p	CLIP-seq
MIRT2377354	hsa-miR-149	CLIP-seq
MIRT2377355	hsa-miR-3064-5p	CLIP-seq
MIRT2377356	hsa-miR-4292	CLIP-seq
MIRT2377357	hsa-miR-4308	CLIP-seq
MIRT2377358	hsa-miR-4646-5p	CLIP-seq
MIRT2377359	hsa-miR-4712-3p	CLIP-seq
MIRT2377360	hsa-miR-4794	CLIP-seq
MIRT2669773	hsa-miR-4763-5p	CLIP-seq
MIRT2695962	hsa-miR-1205	CLIP-seq
MIRT1522605	hsa-miR-150	CLIP-seq
MIRT1522606	hsa-miR-1972	CLIP-seq
MIRT1522607	hsa-miR-4713-5p	CLIP-seq
MIRT2669773	hsa-miR-4763-5p	CLIP-seq
MIRT1522608	hsa-miR-4768-5p	CLIP-seq
MIRT1522609	hsa-miR-513a-3p	CLIP-seq
MIRT1522610	hsa-miR-532-3p	CLIP-seq
MIRT2695963	hsa-miR-596	CLIP-seq

Show/Hide all (35)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
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	IEA
GO:0001701	Process	In utero embryonic development	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	IEA
GO:0002052	Process	Positive regulation of neuroblast proliferation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	18180299, 19131338
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0007420	Process	Brain development	IBA
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IMP	23178126
GO:0008270	Function	Zinc ion binding	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0021895	Process	Cerebral cortex neuron differentiation	IEA
GO:0035097	Component	Histone methyltransferase complex	IDA	23178126
GO:0035097	Component	Histone methyltransferase complex	IEA
GO:0040029	Process	Epigenetic regulation of gene expression	IMP	23178126
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0048854	Process	Brain morphogenesis	IEA
GO:0050671	Process	Positive regulation of lymphocyte proliferation	IMP	23178126
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IBA
GO:0050769	Process	Positive regulation of neurogenesis	IEA
GO:0050769	Process	Positive regulation of neurogenesis	IMP	23178126
GO:1990226	Function	Histone methyltransferase binding	IEA

MIM	HGNC	e!Ensembl
610827	15807	ENSG00000198026

Q9H4Z2

Protein name

Zinc finger protein 335 (NRC-interacting factor 1) (NIF-1)

Protein function

Component or associated component of some histone methyltransferase complexes may regulate transcription through recruitment of those complexes on gene promoters (PubMed:19131338, PubMed:23178126). Enhances ligand-dependent transcriptional activ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13894	zf-C2H2_4	562 → 585		Domain
PF13909	zf-H2C2_5	1075 → 1099		Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12215545, ECO:0000269|PubMed:23178126}.

Sequence

MEENEVESSSDAAPGPGRPEEPSESGLGVGTSEAVSADSSDAAAAPGQAEADDSGVGQSS
DRGSRSQEEVSESSSSADPLPNSYLPDSSSVSHGPVAGVTGGPPALVHSSALPDPNMLVS
DCTASSSDLGSAIDKIIESTIGPDLIQNCITVTSAEDGGAETTRYLILQGPDDGAPMTSP
MSSSTLAHSLAAIEALADGPTSTSTCLEAQGGPSSPVQLPPASGAEEPDLQSLEAMMEVV
VVQQFKCKMCQYRSSTKATLLRHMRERHFRPVAAAAAAAGKKGRLRKWSTSTKSQEEEGP
EEEDDDDIVDAGAIDDLEEDSDYNPAEDEPRGRQLRLQRPTPSTPRPRRRPGRPRKLPRL
EISDLPDGVEGEPLVSSQSGQSPPEPQDPEAPSSSGPGHLVAMGKVSRTPVEAGVSQSDA
ENAAPSCPDEHDTLPRRRGRPSRRFLGKKYRKYYYKSPKPLLRPFLCRICGSRFLSHEDL
RFHVNSHEAGDPQLFKCLQCSYRSRRWSSLKEHMFNHVGSKPYKCDECSYTSVYRKDVIR
HAAVHSRDRKKRPDPTPKLSSFPCPVCGRVYPMQKRLTQHMKTHSTEKPHMCDKCGKSFK
KRYTFKMHLLTHIQAVANRRFKCEFCEFVCEDKKALLNHQLSHVSDKPFKCSFCPYRTFR
EDFLLSHVAVKHTGAKPFACEYCHFSTRHKKNLRLHVRCRHASSFEEWGRRHPEEPPSRR
RPFFSLQQIEELKQQHSAAPGPPPSSPGPPEIPPEATTFQSSEAPSLLCSDTLGGATIIY
QQGAEESTAMATQTALDLLLNMSAQRELGGTALQVAVVKSEDVEAGLASPGGQPSPEGAT
PQVVTLHVAEPGGGAAAESQLGPPDLPQITLAPGPFGGTGYSVITAPPMEEGTSAPGTPY
SEEPAGEAAQAVVVSDTLKEAGTHYIMATDGTQLHHIELTADGSISFPSPDALASGAKWP
LLQCGGLPRDGPEPPSPAKTHCVGDSQSSASSPPATSKALGLAVPPSPPSAATAASKKFS
CKICAEAFPGRAEMESHKRAHAGPGAFKCPDCPFSARQWPEVRAHMAQHSSLRPHQCSQC
SFASKNKKDLRRHMLTHTKEKPFACHLCGQRFNRNGHLKFHIQRLHSPDGRKSGTPTARA
PTQTPTQTIILNSDDETLATLHTALQSSHGVLGPERLQQALSQEHIIVAQEQTVTNQEEA
AYIQEITTADGQTVQHLVTSDNQVQYIISQDGVQHLLPQEYVVVPEGHHIQVQEGQITHI
QYEQGAPFLQESQIQYVPVSPGQQLVTQAQLEAAAHSAVTAVADAAMAQAQGLFGTDETV
PEHIQQLQHQGIEYDVITLADD

Sequence length

1342

Interactions

View interactions

173

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Microcephalic primordial dwarfism due to ZNF335 deficiency	Pathogenic; Likely pathogenic	rs2145359858, rs797046124, rs749190523, rs753460205, rs397514642, rs1568822376, rs753888773	RCV002246825 RCV000193192 RCV000416468 RCV000416430 RCV000033174 RCV000757912 RCV000757913

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs11905235	RCV005889420
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs11905235	RCV005889424
Aminoacylase 1 deficiency	Conflicting classifications of pathogenicity	rs780393773	RCV001729842
Autism	Conflicting classifications of pathogenicity	rs780393773	RCV004698542
Autosomal recessive primary microcephaly	Uncertain significance	rs2084056950	RCV003226152
Cervical cancer	Uncertain significance; Benign; Likely benign	rs200292156, rs6124760, rs11905235	RCV005911427 RCV005916914 RCV005889425
Cholangiocarcinoma	Benign; Likely benign	rs11905235	RCV005889434
Clear cell carcinoma of kidney	Likely benign	rs781026382	RCV005928358
Colon adenocarcinoma	Benign; Likely benign	rs11905235	RCV005889419
Colorectal cancer	Benign; Likely benign	rs11905235	RCV005889428
Familial cancer of breast	Likely benign	rs376616764	RCV005926088
Gastric cancer	Benign; Likely benign	rs6124760, rs11905235	RCV005916915 RCV005889430
Hepatocellular carcinoma	Benign; Likely benign	rs6124760, rs11905235	RCV005916913 RCV005889421
Lung cancer	Benign	rs6124760	RCV005916916
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs11905235	RCV005889427
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	rs11905235, rs140947295	RCV005889422 RCV005925639
Malignant tumor of urinary bladder	Likely benign	rs750189646	RCV005939484
Melanoma	Benign; Likely benign	rs11905235, rs531909331	RCV005889433 RCV005921237
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs11905235	RCV005889423
Ovarian serous cystadenocarcinoma	Uncertain significance	rs34015709	RCV005892402
Sarcoma	Benign; Likely benign	rs11905235	RCV005889429
Thymoma	Benign; Likely benign	rs11905235, rs376616764	RCV005889432 RCV005926089
Uterine carcinosarcoma	Benign; Likely benign	rs11905235	RCV005889431
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs6124760, rs11905235	RCV005916917 RCV005889435
Uveal melanoma	Benign; Likely benign	rs11905235	RCV005889426
ZNF335-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs549937846, rs137901051, rs41305805, rs6130977, rs114864530, rs200554054, rs779898911, rs59901407, rs149480604, rs140842666, rs545926833, rs781092251, rs35291173, rs191074858, rs143113106 View all (19 more)	RCV003956142 RCV003966169 RCV003975061 RCV003915180 RCV003935128 RCV004756305 RCV003933642 RCV003923718 RCV003898749 RCV004756466 RCV003906525 RCV003943437 RCV003907712 RCV003927813 RCV003907711 RCV003917780 RCV004756457 RCV003400222 RCV003907056 RCV003899707 RCV003942051 RCV003944010 RCV003934572 RCV003949871 RCV003932071 RCV003972239 RCV003932551 RCV003928264 RCV003943165 RCV003897966 RCV003975568 RCV003920524 RCV003910750 RCV003942870

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acromegaly	Associate	40415137
Autosomal Recessive Primary Microcephaly	Associate	29652087
Cerebellar Diseases	Associate	29652087
Deafness	Associate	35248088
Death	Associate	29652087
Demyelinating Diseases	Associate	29652087
Early Onset Glaucoma	Associate	29652087
Hearing Loss	Associate	35248088
Intellectual Disability	Associate	30500859
Lissencephaly	Associate	29652087
Microcephaly	Associate	29652087
Respiratory Distress Syndrome	Associate	25372662
Urinary Bladder Neoplasms	Associate	26889680

ZNF335 (zinc finger protein 335)