Gene Gene information from NCBI Gene database.
Entrez ID 79882
Gene name Zinc finger CCCH-type containing 14
Gene symbol ZC3H14
Synonyms (NCBI Gene)
MRT56MSUT-2NY-REN-37SUT2UKp68
Chromosome 14
Chromosome location 14q31.3
Summary 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.
2
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.
279
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
32
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0003730 Function MRNA 3'-UTR binding IDA 39461343
GO:0005515 Function Protein binding IPI 19273536, 25416956, 27871484, 32296183
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613279 20509 ENSG00000100722
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
27
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Uncertain significance rs200718239 RCV001261367
Intellectual disability, autosomal recessive 56 Uncertain significance; Benign; Likely benign; no classifications from unflagged records; Conflicting classifications of pathogenicity rs201527519, rs538186371, rs772949764, rs778564417, rs77755006, rs2297124, rs886037950, rs571303442, rs145521296, rs370546299 RCV001332563
RCV001330855
RCV001333228
RCV001333227
RCV002492402
RCV002245257
RCV000240944
RCV000240871
RCV001333229
RCV001169918
Malignant tumor of esophagus Benign rs191598336 RCV005906005
Malignant tumor of urinary bladder Uncertain significance rs369352459 RCV005927227
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Intellectual Disability Associate 27563065
Sleep Deprivation Associate 27563065