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

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
Microcephalic primordial dwarfism due to ZNF335 deficiency	Pathogenic; Likely pathogenic	rs2145359858, rs797046124, rs749190523, rs753460205, rs397514642, rs1568822376, rs753888773	RCV002246825 RCV000193192 RCV000416468 RCV000416430 RCV000033174 RCV000757912 RCV000757913 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (35)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aminoacylase 1 deficiency	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive primary microcephaly	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ZNF335-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acromegaly	Acromegaly	Pubtator	40415137	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	31680049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30392784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Primary Microcephaly	Microcephaly	BEFREE	29652087		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Autosomal Recessive Primary Microcephaly	Primary microcephaly	Pubtator	29652087	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brain atrophy	Brain atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	25920553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Celiac Disease	Celiac disease	GWASCAT_DG	25920553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29652087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness	Deafness	Pubtator	35248088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	29652087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	23178126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	35248088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23178126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30500859	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	29652087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephalic primordial dwarfism due to ZNF335 deficiency	Microcephalic Primordial Dwarfism	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly	Microcephaly	BEFREE	27540107, 29652087		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	29652087	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	GENOMICS_ENGLAND_DG	23178126		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	ORPHANET_DG	23178126		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	UNIPROT_DG	23178126		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CLINVAR_DG	28327206		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE	Microcephaly	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	19131338, 22495306, 23178126, 26795593, 27540107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	19131338, 22495306, 23178126, 26795593, 27540107		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	25372662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	26889680	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

ZNF335 (zinc finger protein 335)