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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	63925
Gene name Gene Name - the full gene name approved by the HGNC.	Zinc finger protein 335
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ZNF335
Synonyms (NCBI Gene) Gene synonyms aliases	MCPH10, NIF-1, NIF1, NIF2
Chromosome Chromosome number	20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	20q13.12
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Microcephalic Primordial Dwarfism	microcephalic primordial dwarfism due to znf335 deficiency	rs1568822376, rs753888773, rs397514642, rs797046124, rs749190523, rs753460205	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Celiac disease	Celiac disease	N/A	N/A	GWAS
Coronary artery disease	Coronary artery disease	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)