Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCPH10
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0001701 Process In utero embryonic development IEA
GO:0002052 Process Positive regulation of neuroblast proliferation ISS
GO:0005515 Function Protein binding IPI 18180299, 19131338
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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
SFASKNKKDLRRHMLTHTK
EKPFACHLCGQRFNRNGHLKFHIQRLHSPDGRKSGTPTARA
PTQTPTQTIILNSDDETLATLHTALQSSHGVLGPERLQQALSQEHIIVAQEQTVTNQEEA
AYIQEITTADGQTVQHLVTSDNQVQYIISQDGVQHLLPQEYVVVPEGHHIQVQEGQITHI
QYEQGAPFLQESQIQYVPVSPGQQLVTQAQLEAAAHSAVTAVADAAMAQAQGLFGTDETV
PEHIQQLQHQGIEYDVITLADD
Sequence length 1342
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Developmental delay Global developmental delay, Profound global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
23178126
Unknown
Disease term Disease name Evidence References Source
Celiac disease Celiac Disease, Celiac disease 25920553 ClinVar, GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
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