Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79882
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger CCCH-type containing 14
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZC3H14
Synonyms (NCBI Gene) Gene synonyms aliases
MRT56, MSUT-2, NY-REN-37, SUT2, UKp68
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT56
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a poly(A)-binding protein that can affect gene expression and poly(A) tail length. The encoded protein may influence mRNA stability, nuclear export, and translation. [provided by RefSeq, May 2016]
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs571303442 GTTTTTCTCATGTCAGTTCAAATTC>- Benign, conflicting-interpretations-of-pathogenicity Genic downstream transcript variant, intron variant
rs886037950 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained, non coding transcript variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT039156 hsa-miR-769-5p CLASH 23622248
MIRT616067 hsa-miR-4274 HITS-CLIP 23824327
MIRT616066 hsa-miR-4519 HITS-CLIP 23824327
MIRT616065 hsa-miR-4524a-5p HITS-CLIP 23824327
MIRT616064 hsa-miR-4524b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005515 Function Protein binding IPI 19273536, 25416956, 27871484
GO:0005634 Component Nucleus IBA 21873635
GO:0005634 Component Nucleus IDA 19303045, 28793261
GO:0005730 Component Nucleolus IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613279 20509 ENSG00000100722
Protein
UniProt ID Q6PJT7
Protein name Zinc finger CCCH domain-containing protein 14 (Mammalian suppressor of tau pathology-2) (MSUT-2) (Renal carcinoma antigen NY-REN-37)
Protein function RNA-binding protein involved in the biogenesis of circular RNAs (circRNAs), which are produced by back-splicing circularization of pre-mRNAs (PubMed:39461343). Acts by binding to both exon-intron boundary and 3'-UTR of pre-mRNAs to promote circR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14608 zf-CCCH_2 601 618 Domain
PF14608 zf-CCCH_2 621 639 Domain
PF14608 zf-CCCH_2 640 656 Domain
PF14608 zf-CCCH_2 681 698 Domain
PF14608 zf-CCCH_2 701 717 Domain
Tissue specificity TISSUE SPECIFICITY: [Isoform 1]: Expressed in fetal and adult brain (PubMed:21734151). Expressed in fetal and adult temporal lobe (PubMed:21734151). {ECO:0000269|PubMed:21734151}.; TISSUE SPECIFICITY: [Isoform 6]: Expressed in fetal and adult brain (PubMe
Sequence
MEIGTEISRKIRSAIKGKLQELGAYVDEELPDYIMVMVANKKSQDQMTEDLSLFLGNNTI
RFTVWLHGVLDKLRSVTTEPSSLKSSDTNIFDSNVPSNKSNFSRGDERRHEAAVPPLAIP
SARPEKRDSRVSTSSQESKTTNVRQTYDDGAATRLMSTVKPLREPAPSEDVIDIKPEPDD
LIDEDLNFVQENPLSQKKPTVTLTYGSSRPSIEIYRPPASRNADSGVHLNRLQFQQQQNS
IHAAKQLDMQSSWVYETGRLCEPEVLNSLEETYSPFFRNNSEKMSMEDENFRKRKLPVVS
SVVKVKKFNHDGEEEEEDDDYGSRTGSISSSVSVPAKPERRPSLPPSKQANKNLILKAIS
EAQESVTKTTNYSTVPQKQTLPVAPRTRTSQEELLAEVVQGQSRTPRISPPIKEEETKGD
SVEKNQGTQQRQLLSRLQIDPVMAETLQMSQDYYDMESMVHADTRSFILKKPKLSEEVVV
APNQESGMKTADSLRVLSGHLMQTRDLVQPDKPASPKFIVTLDGVPSPPGYMSDQEEDMC
FEGMKPVNQTAASNKGLRGLLHPQQLHLLSRQLEDPNGSFSNAEMSELSVAQKPEKLLER
CKYWPACKNGDECAYHHPISPCKAFPNCKFAEKCLFVHPNCKYDAKCTKPDCPFTHVSRR
IPVLSPKPAVAPPAPPSSSQLCRYFPACKKMECPFYHPKHCRFNTQCTRPDCTFYHPTIN
VPPRHALKWIRPQTSE
Sequence length 736
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
21734151
Microcephaly Microcephaly rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019
View all (280 more)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability GenCC
Alzheimer disease Alzheimer disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Intellectual Disability Associate 27563065
Sleep Deprivation Associate 27563065