Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	JBTS19, NPHP14
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

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
rs745597535	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs759221881	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886041561	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1064794776	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1596759273	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596763347	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596988259	G>A	Pathogenic	Coding sequence variant, missense variant

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
MIRT1524304	hsa-miR-4725-3p	CLIP-seq
MIRT1524305	hsa-miR-4727-5p	CLIP-seq
MIRT1524306	hsa-miR-4769-3p	CLIP-seq
MIRT1524307	hsa-miR-625	CLIP-seq
MIRT1524308	hsa-miR-889	CLIP-seq
MIRT2377948	hsa-miR-369-3p	CLIP-seq
MIRT2377949	hsa-miR-374a	CLIP-seq
MIRT2377950	hsa-miR-374b	CLIP-seq

Show/Hide all(21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	21873635
GO:0005515	Function	Protein binding	IPI	19345331, 22863007
GO:0005634	Component	Nucleus	IDA	10660046
GO:0005654	Component	Nucleoplasm	IDA
GO:0006355	Process	Regulation of transcription, DNA-templated	IBA	21873635
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0007219	Process	Notch signaling pathway	ISS
GO:0021930	Process	Cerebellar granule cell precursor proliferation	IEA
GO:0021938	Process	Smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	ISS
GO:0043565	Function	Sequence-specific DNA binding	IMP	27727273
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IDA	10660046
GO:0045892	Process	Negative regulation of transcription, DNA-templated	IMP	27727273
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	10660046
GO:0046872	Function	Metal ion binding	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0061512	Process	Protein localization to cilium	IGI	27727273
GO:0061512	Process	Protein localization to cilium	IMP	27727273
GO:0120163	Process	Negative regulation of cold-induced thermogenesis	ISS	27238639

MIM	HGNC	e!Ensembl
604557	16762	ENSG00000102935

Protein

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

Show/Hide Causal Diseases (13)

Disease term	Disease name	dbSNP ID	References
Causal
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)
Hirschsprung disease	Hirschsprung Disease	rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323 View all (4 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Joubert syndrome	JOUBERT SYNDROME 19	rs201108965, rs13297509, rs121918128, rs121918129, rs121918130, rs2109050324, rs118204052, rs118204053, rs121918197, rs121918198, rs121918199, rs121918200, rs121918204, rs387906243, rs145665129 View all (432 more)	22863007
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Nephronophthisis	Nephronophthisis, NEPHRONOPHTHISIS 2, NEPHRONOPHTHISIS 14, Infantile nephronophthisis	rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856 View all (190 more)	22863007
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polycystic kidney disease	Polycystic Kidney Diseases	rs119103233, rs886041027, rs886041028, rs137852944, rs28937907, rs137852947, rs137852948, rs137852949, rs137852950, rs267607048, rs2147483647, rs199476094, rs1567154953, rs199476095, rs199476096 View all (740 more)
Renal insufficiency	Renal Insufficiency	rs1596536873
Retinal dystrophy	Retinal Dystrophies	rs267606794, rs200691042, rs397704718, rs202193201, rs794728002, rs121965036, rs121965057, rs121918129, rs137853190, rs386834252, rs121918165, rs137853113, rs137853114, rs121918328, rs587777803 View all (2328 more)
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	Source
Unknown
Ptosis	Blepharoptosis, Ptosis		ClinVar
Joubert Syndrome With Oculorenal Defect	Joubert syndrome with oculorenal defect		GenCC
Ovarian cancer	Ovarian cancer	Conditional KD of IL6 in the OCCA xenograft model delays tumor growth	GWAS, CBGDA
Hypertension	Hypertension		GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.	GWAS, CBGDA

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Inflammation	Inhibit	24976683
Inflammation	Associate	27588447
Liposarcoma	Associate	35313831
Lupus Erythematosus Systemic	Associate	20359360
Neoplasms	Associate	22907430, 27400912, 31284679
Neoplasms Adipose Tissue	Associate	27588447
Neuroblastoma	Associate	19345331, 20655465
Obesity	Associate	29145611
Osteoarthritis	Inhibit	24976683
Osteoporosis	Associate	29145611

ZNF423 (zinc finger protein 423)