Gene Gene information from NCBI Gene database.
Entrez ID 9203
Gene name Zinc finger MYM-type containing 3
Gene symbol ZMYM3
Synonyms (NCBI Gene)
DXS6673EMYMXFIMXLID112ZNF198L2ZNF261
Chromosome X
Chromosome location Xq13.1
Summary This gene is located on the X chromosome and is subject to X inactivation. It is highly conserved in vertebrates and most abundantly expressed in the brain. The encoded protein is a component of histone deacetylase-containing multiprotein complexes that f
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs142437272 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT052466 hsa-let-7a-5p CLASH 23622248
MIRT050706 hsa-miR-18a-5p CLASH 23622248
MIRT043846 hsa-miR-330-3p CLASH 23622248
MIRT037684 hsa-miR-744-5p CLASH 23622248
MIRT1514929 hsa-miR-1179 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding TAS 10486218
GO:0005515 Function Protein binding IPI 30021884, 30889214, 32814053, 35271311
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus IMP 36586412
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300061 13054 ENSG00000147130
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14202
Protein name Zinc finger MYM-type protein 3 (Zinc finger protein 261)
Protein function Plays a role in the regulation of cell morphology and cytoskeletal organization.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06467 zf-FCS 348 389 MYM-type Zinc finger with FCS sequence motif Domain
PF06467 zf-FCS 404 440 MYM-type Zinc finger with FCS sequence motif Domain
PF06467 zf-FCS 446 488 MYM-type Zinc finger with FCS sequence motif Domain
PF06467 zf-FCS 493 532 MYM-type Zinc finger with FCS sequence motif Domain
PF06467 zf-FCS 541 578 MYM-type Zinc finger with FCS sequence motif Domain
PF06467 zf-FCS 586 623 MYM-type Zinc finger with FCS sequence motif Domain
PF06467 zf-FCS 628 664 MYM-type Zinc finger with FCS sequence motif Domain
PF06467 zf-FCS 715 751 MYM-type Zinc finger with FCS sequence motif Domain
PF12012 DUF3504 1185 1353 Domain of unknown function (DUF3504) Family
Tissue specificity TISSUE SPECIFICITY: Most abundant in brain, moderate in muscle and heart, low in other tissues except placenta.
Sequence
MDPSDFPSPFDPLTLPEKPLAGDLPVDMEFGEDLLESQTAPTRGWAPPGPSPSSGALDLL
DTPAGLEKDPGVLDGATELLGLGGLLYKAPSPPEVDHGPEGTLAWDAGDQTLEPGPGGQT
PEVVPPDPGAGANSCSPEGLLEPLAPDSPITLQSPHIEEEETTSIATARRGSPGQEEELP
QGQPQSPNAPPSPSVGETLGDGINSSQTKPGGSSPPAHPSLPGDGLTAKASEKPPERKRS
ERVRRAEPPKPEVVDSTESIPVSDEDSDAMVDDPNDEDFVPFRPRRSPRMSLRSSVSQRA
GRSAVGTKMTCAHCRTPLQKGQTAYQRKGLPQLFCSSSCLTTFSKKPSGKKTCTFCKKEI
WNTKDSVVAQTGSGGSFHEFCTSVCLSLY
EAQQQRPIPQSGDPADATRCSICQKTGEVLH
EVSNGSVVHRLCSDSCFSKF
RANKGLKTNCCDQCGAYIYTKTGSPGPELLFHEGQQKRFC
NTTCLGAY
KKKNTRVYPCVWCKTLCKNFEMLSHVDRNGKTSLFCSLCCTTSYKVKQAGLT
GPPRPCSFCRRSLSDPCYYNKVDRTVYQFCSPSCWTKFQRTSPEGGIHLSCHYCHSLFSG
KPEVLDWQDQVFQFCCRDCCEDF
KRLRGVVSQCEHCRQEKLLHEKLRFSGVEKSFCSEGC
VLLY
KQDFTKKLGLCCITCTYCSQTCQRGVTEQLDGSTWDFCSEDCKSKYLLWYCKAARC
HACKRQGKLLETIHWRGQIRHFCNQQCLLRF
YSQQNQPNLDTQSGPESLLNSQSPESKPQ
TPSQTKVENSNTVRTPEENGNLGKIPVKTRSAPTAPTPPPPPPPATPRKNKAAMCKPLMQ
NRGVSCKVEMKSKGSQTEEWKPQVIVLPIPVPIFVPVPMHLYCQKVPVPFSMPIPVPVPM
FLPTTLESTDKIVETIEELKVKIPSNPLEADILAMAEMIAEAEELDKASSDLCDLVSNQS
AEGLLEDCDLFGPARDDVLAMAVKMANVLDEPGQDLEADFPKNPLDINPSVDFLFDCGLV
GPEDVSTEQDLPRTMRKGQKRLVLSESCSRDSMSSQPSCTGLNYSYGVNAWKCWVQSKYA
NGETSKGDELRFGPKPMRIKEDILACSAAELNYGLAQFVREITRPNGERYEPDSIYYLCL
GIQQYLLENNRMVNIFTDLYYLTFVQELNKSLSTWQPTLLPNNTVFSRVEEEHLWECKQL
GVYSPFVLLNTLMFFNTKFFGLQTAEEHMQLSFTNVVRQSRKCTTPRGTTKVVSIRYYAP
VRQRKGRDTGPGKRKREDEAPILEQRENRMNPLRCPVKFYEFYLSKCPESLRTRNDVFYL
QPERSCIAESPLWYSVIPMDRSMLESMLNRILA
VREIYEELGRPGEEDLD
Sequence length 1370
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
26
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Likely pathogenic rs2147988068 RCV002291086
Global developmental delay Likely pathogenic rs2147988068 RCV002291086
Hyporeflexia Likely pathogenic rs2147988068 RCV002291086
Intellectual developmental disorder, X-linked 112 Pathogenic; Likely pathogenic rs2519835731, rs2519822410 RCV003313747
RCV004595279
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Intellectual disability Uncertain significance rs746982292 RCV001260796
Neurodevelopmental disorder Uncertain significance rs2519844077 RCV003994754
ZMYM3-related disorder Uncertain significance; Likely benign; Benign rs2147982186, rs894482055, rs1338083779, rs2519837951, rs1221460658, rs141256730, rs150144367, rs752294993, rs201097988, rs765146259, rs148915559, rs140177072, rs369768301, rs761169958, rs151152741
View all (1 more)
RCV003405725
RCV003400194
RCV003404587
RCV003410862
RCV003412209
RCV003908970
RCV003914690
RCV003899338
RCV003949544
RCV003936867
RCV003949218
RCV003947033
RCV003947310
RCV003969541
RCV003978272
RCV003940463
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 33173136
Aortic Valve Stenosis Associate 24721225
Azoospermia Nonobstructive Associate 36017582
Bipolar Disorder Associate 33173136
Cognition Disorders Associate 33173136
Developmental Disabilities Associate 36586412
Hypersensitivity Delayed Associate 36586412
Hypospadias Associate 24721225
Infertility Associate 36017582
Infertility Male Associate 39267058