Seroatlas · Human Serome Atlas

ZNF423

Zinc finger protein 423

Also known as: Ebfaz, hOAZ, JBTS19, KIAA0760, NPHP14, OAZ, Zfp104, ZN423_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q2M1K9
Gene: ZNF423
Ensembl: ENSG00000102935
Chromosome: 16
Canonical length: 1284 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm
Quaternary structure: Homodimer

OverviewNCBI 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 thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]

Canonical amino-acid sequenceUniProt

1284 residues, UniProt reviewed canonical sequence.

>Q2M1K9|ZNF423
     1  MHKKRVEEGE ASDFSLAWDS SVTAAGGLEG EPECDQKTSR ALEDRNSVTS QEERNEDDED
    61  MEDESIYTCD HCQQDFESLA DLTDHRAHRC PGDGDDDPQL SWVASSPSSK DVASPTQMIG
   121  DGCDLGLGEE EGGTGLPYPC QFCDKSFIRL SYLKRHEQIH SDKLPFKCTY CSRLFKHKRS
   181  RDRHIKLHTG DKKYHCHECE AAFSRSDHLK IHLKTHSSSK PFKCTVCKRG FSSTSSLQSH
   241  MQAHKKNKEH LAKSEKEAKK DDFMCDYCED TFSQTEELEK HVLTRHPQLS EKADLQCIHC
   301  PEVFVDENTL LAHIHQAHAN QKHKCPMCPE QFSSVEGVYC HLDSHRQPDS SNHSVSPDPV
   361  LGSVASMSSA TPDSSASVER GSTPDSTLKP LRGQKKMRDD GQGWTKVVYS CPYCSKRDFN
   421  SLAVLEIHLK TIHADKPQQS HTCQICLDSM PTLYNLNEHV RKLHKNHAYP VMQFGNISAF
   481  HCNYCPEMFA DINSLQEHIR VSHCGPNANP SDGNNAFFCN QCSMGFLTES SLTEHIQQAH
   541  CSVGSAKLES PVVQPTQSFM EVYSCPYCTN SPIFGSILKL TKHIKENHKN IPLAHSKKSK
   601  AEQSPVSSDV EVSSPKRQRL SASANSISNG EYPCNQCDLK FSNFESFQTH LKLHLELLLR
   661  KQACPQCKED FDSQESLLQH LTVHYMTTST HYVCESCDKQ FSSVDDLQKH LLDMHTFVLY
   721  HCTLCQEVFD SKVSIQVHLA VKHSNEKKMY RCTACNWDFR KEADLQVHVK HSHLGNPAKA
   781  HKCIFCGETF STEVELQCHI TTHSKKYNCK FCSKAFHAII LLEKHLREKH CVFDAATENG
   841  TANGVPPMAT KKAEPADLQG MLLKNPEAPN SHEASEDDVD ASEPMYGCDI CGAAYTMEVL
   901  LQNHRLRDHN IRPGEDDGSR KKAEFIKGSH KCNVCSRTFF SENGLREHLQ THRGPAKHYM
   961  CPICGERFPS LLTLTEHKVT HSKSLDTGTC RICKMPLQSE EEFIEHCQMH PDLRNSLTGF
  1021  RCVVCMQTVT STLELKIHGT FHMQKLAGSS AASSPNGQGL QKLYKCALCL KEFRSKQDLV
  1081  KLDVNGLPYG LCAGCMARSA NGQVGGLAPP EPADRPCAGL RCPECSVKFE SAEDLESHMQ
  1141  VDHRDLTPET SGPRKGTQTS PVPRKKTYQC IKCQMTFENE REIQIHVANH MIEEGINHEC
  1201  KLCNQMFDSP AKLLCHLIEH SFEGMGGTFK CPVCFTVFVQ ANKLQQHIFA VHGQEDKIYD
  1261  CSQCPQKFFF QTELQNHTMS QHAQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ZNF423 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.48
Highest tissue expression: 26 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 26 nTPM
tongue: 14 nTPM
amygdala: 9.1 nTPM
cerebral cortex: 9.1 nTPM
seminal vesicle: 8.9 nTPM
fallopian tube: 8.8 nTPM

Single-cell type

myonuclei: 322 nCPM
late spermatids: 153 nCPM
thyrotrophs: 150 nCPM
somatotrophs: 146 nCPM
adrenal medulla cells: 128 nCPM
peritubular myoid cells: 127 nCPM

Immune cell

NK-cell: 0.2 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

midbrain: 78 nTPM
thalamus: 67 nTPM
medulla oblongata: 44 nTPM
cerebellum: 41 nTPM
amygdala: 41 nTPM
pons: 38 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ZNF423.

Disease | AllUniProt

Conditions ZNF423 is implicated in, by any mechanism.

Nephronophthisis 14 (NPHP14) MIM:614844
Joubert syndrome 19 (JBTS19) MIM:614844

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 966 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Joubert syndrome 19
Nephronophthisis 14
ZNF423-related disorder
Autosomal recessive ZNF423-related disorders

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.19
gnomAD pLI: 1
gnomAD missense Z: 2.49
DepMap mean gene effect: 0.09
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ZNF423 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ZNF423 as an antibody target. Whether an autoantibody or antibody against ZNF423 could matter depends on whether native ZNF423 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ZNF423 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ZNF423 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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