ZNF423 (zinc finger protein 423)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23090
Gene name Gene Name - the full gene name approved by the HGNC.
Zinc finger protein 423
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZNF423
Synonyms (NCBI Gene) Gene synonyms aliases
Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thou
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs34425379 C>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs145503941 G>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant, synonymous variant
rs200585917 G>A,T Pathogenic Missense variant, coding sequence variant
rs201499268 G>A,T Conflicting-interpretations-of-pathogenicity Stop gained, coding sequence variant, synonymous variant
rs548986682 C>A,T Likely-pathogenic Missense variant, stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
MIRT030310 hsa-miR-26b-5p Microarray 19088304
MIRT050769 hsa-miR-17-3p CLASH 23622248
MIRT1524301 hsa-miR-216a CLIP-seq
MIRT1524302 hsa-miR-216b CLIP-seq
MIRT1524303 hsa-miR-4271 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 19345331, 22863007, 33961781
GO:0005634 Component Nucleus IDA 10660046
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604557 16762 ENSG00000102935
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q2M1K9
Protein name Zinc finger protein 423 (Olf1/EBF-associated zinc finger protein) (hOAZ) (Smad- and Olf-interacting zinc finger protein)
Protein function Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP
PDB 2MDG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 138 → 160 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 194 → 216 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 222 → 244 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 440 → 466 Domain
PF00096 zf-C2H2 480 → 503 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 692 → 715 Zinc finger, C2H2 type Domain
PF13912 zf-C2H2_6 929 → 955 Domain
PF13912 zf-C2H2_6 958 → 984 Domain
PF00096 zf-C2H2 1120 → 1143 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, lung, skeletal muscle, heart, pancreas and kidney but not liver or placenta. Also expressed in aorta, ovary, pituitary, small intestine, fetal brain, fetal kidney and, within the adult brain, in the substantia nigra
Sequence 
MHKKRVEEGEASDFSLAWDSSVTAAGGLEGEPECDQKTSRALEDRNSVTSQEERNEDDED
MEDESIYTCDHCQQDFESLADLTDHRAHRCPGDGDDDPQLSWVASSPSSKDVASPTQMIG
DGCDLGLGEEEGGTGLPYPCQFCDKSFIRLSYLKRHEQIHSDKLPFKCTYCSRLFKHKRS
RDRHIKLHTGDKKYHCHECEAAFSRSDHLKIHLKTHSSSKPFKCTVCKRGFSSTSSLQSH
MQAHKKNKEHLAKSEKEAKKDDFMCDYCEDTFSQTEELEKHVLTRHPQLSEKADLQCIHC
PEVFVDENTLLAHIHQAHANQKHKCPMCPEQFSSVEGVYCHLDSHRQPDSSNHSVSPDPV
LGSVASMSSATPDSSASVERGSTPDSTLKPLRGQKKMRDDGQGWTKVVYSCPYCSKRDFN
SLAVLEIHLKTIHADKPQQSHTCQICLDSMPTLYNLNEHVRKLHKNHAYPVMQFGNISAF
HCNYCPEMFADINSLQEHIRVSHCGPNANPSDGNNAFFCNQCSMGFLTESSLTEHIQQAH
CSVGSAKLESPVVQPTQSFMEVYSCPYCTNSPIFGSILKLTKHIKENHKNIPLAHSKKSK
AEQSPVSSDVEVSSPKRQRLSASANSISNGEYPCNQCDLKFSNFESFQTHLKLHLELLLR
KQACPQCKEDFDSQESLLQHLTVHYMTTSTHYVCESCDKQFSSVDDLQKHLLDMHTFVLY
HCTLCQEVFDSKVSIQVHLAVKHSNEKKMYRCTACNWDFRKEADLQVHVKHSHLGNPAKA
HKCIFCGETFSTEVELQCHITTHSKKYNCKFCSKAFHAIILLEKHLREKHCVFDAATENG
TANGVPPMATKKAEPADLQGMLLKNPEAPNSHEASEDDVDASEPMYGCDICGAAYTMEVL
LQNHRLRDHNIRPGEDDGSRKKAEFIKGSHKCNVCSRTFFSENGLREHLQTHRGPAKHYM
CPICGERFPSLLTLTEHKVTHSKSLDTGTCRICKMPLQSEEEFIEHCQMHPDLRNSLTGF
RCVVCMQTVTSTLELKIHGTFHMQKLAGSSAASSPNGQGLQKLYKCALCLKEFRSKQDLV
KLDVNGLPYGLCAGCMARSANGQVGGLAPPEPADRPCAGLRCPECSVKFESAEDLESHMQ
VDHRDLTPETSGPRKGTQTSPVPRKKTYQCIKCQMTFENEREIQIHVANHMIEEGINHEC
KLCNQMFDSPAKLLCHLIEHSFEGMGGTFKCPVCFTVFVQANKLQQHIFAVHGQEDKIYD
CSQCPQKFFFQTELQNHTMSQHAQ
Sequence length 1284
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nephronophthisis nephronophthisis 14 rs1596759273 N/A
Joubert syndrome joubert syndrome 19 rs1596763347, rs1596988259 N/A
Show/Hide Unknown Diseases (7)
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.
Disease merge term Disease name Evidence References Source
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Hypertension Hypertension (confirmatory factor analysis Factor 12), Hypertension N/A N/A GWAS
Joubert Syndrome With Oculorenal Defect Joubert syndrome with oculorenal defect N/A N/A GenCC
Kidney Disease Chronic kidney disease N/A N/A ClinVar
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agenesis of Corpus Callosum Associate 33270637
Alzheimer Disease Associate 31283791
Arthritis Rheumatoid Associate 20359360
Breast Neoplasms Associate 23764426, 27400912, 28968398, 30937657
Cholangiocarcinoma Associate 31284679
Crohn Disease Associate 40226707
Depressive Disorder Associate 40226707
Drug Related Side Effects and Adverse Reactions Associate 30937657
Glioma Associate 27586240
Immunologic Deficiency Syndromes Associate 20359360