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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DZANK1
double zinc ribbon and ankyrin repeat domains 1
Chromosome 20 Β· 20p11.23
NCBI Gene: 55184Ensembl: ENSG00000089091.17HGNC: HGNC:15858UniProt: A0A8V8TNE5
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcentrosomeeye photoreceptor cell developmentkidney failureovarian neoplasmneurodegenerative diseaseatrial fibrillation
✦AI Summary

DZANK1 (double zinc ribbon and ankyrin repeat domains 1) is a protein essential for intracellular vesicle transport in photoreceptor cells. Mechanistically, DZANK1 functions as a binding partner of NINL (Ninein-like protein) and associates with complementary subunits of the cytoplasmic dynein 1 motor complex, which is required for minus-end directed cargo transport 1. This NINL-DZANK1 protein module is critical for proper assembly and folding of the dynein motor complex. Loss of DZANK1 in zebrafish results in dysmorphic photoreceptor outer segments, accumulation of trans-Golgi-derived vesicles, mislocalization of Rhodopsin and Ush2a proteins, and severely impaired retrograde melanosome transport 1. DZANK1 is clinically relevant to ciliopathies, as photoreceptor outer segments are specialized primary cilia dependent on dynein-based intracellular transport for formation and function 1. A chr20 inversion event affecting DZANK1 exons has been identified in association with posterior polymorphous corneal dystrophy in a mouse model, though haploinsufficiency of DZANK1 alone does not cause disease 2. DZANK1 remains relatively understudied despite its importance in photoreceptor development and ciliary function.

Sources cited
1
DZANK1 is a binding partner of NINL and essential for cytoplasmic dynein 1 motor complex assembly in photoreceptor cells; loss causes photoreceptor outer segment defects and vesicle accumulation
PMID: 26485514
2
DZANK1 exons 20-21 are deleted in a mouse posterior polymorphous corneal dystrophy model caused by chromosomal inversion
PMID: 27310661
3
DZANK1 identified as a functionally enigmatic gene with limited neuroscience literature despite selective tissue expression
PMID: 24523945
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
kidney failureOpen Targets
0.28Weak
ovarian neoplasmOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.14Weak
atrial fibrillationOpen Targets
0.14Weak
attention deficit hyperactivity disorderOpen Targets
0.06Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
thrombophilia due to protein C deficiency, autosomal recessiveOpen Targets
0.03Suggestive
Abnormal sperm morphologyOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.00Suggestive
squamous cell carcinomaOpen Targets
0.00Suggestive
depressive disorderOpen Targets
0.00Suggestive
chronic rhinosinusitisOpen Targets
0.00Suggestive
adrenal cortex carcinomaOpen Targets
0.00Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
urinary bladder cancerOpen Targets
0.00Suggestive
Uterine CarcinosarcomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
POC5Shared pathway100%OLFM3Shared pathway100%RDH13Shared pathway25%TULP1Shared pathway13%RPGRShared pathway13%RORBShared pathway10%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
68%
Brain
31%
Lung
30%
Liver
21%
Heart
19%
Gene Interaction Network
Click a node to explore
DZANK1POC5OLFM3RDH13TULP1RPGRRORB
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NVP4
View on AlphaFold β†—
RankingsWhere DZANK1 stands among ~20K protein-coding genes
  • #15,541of 20,598
    Most Researched15
Genes detectedDZANK1
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish.
PMID: 26485514
PLoS Genet Β· 2015
1.00
2
Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression.
PMID: 27310661
PLoS One Β· 2016
0.67
3
Functionally enigmatic genes: a case study of the brain ignorome.
PMID: 24523945
PLoS One Β· 2014
0.33