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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ANKRD17
ankyrin repeat domain 17
Chromosome 4 Β· 4q13.3
NCBI Gene: 26057Ensembl: ENSG00000132466.21HGNC: HGNC:23575UniProt: O75179
123PubMed Papers
21Diseases
0Drugs
46Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membranechromatin bindingRNA bindingprotein bindingChopra-Amiel-Gordon syndromeneurodegenerative diseasegenetic disorderatrial fibrillation
✦AI Summary

ANKRD17 is a multifunctional ankyrin repeat-containing protein with roles spanning cell cycle regulation, innate immunity, and neurodevelopment. Mechanistically, ANKRD17 positively regulates viral pattern recognition through interaction with RIG-I, MDA5, and VISA, enhancing RLR-mediated activation of IRF-3 and NF-ΞΊB signaling 1. It also functions in antibacterial immunity by binding NOD1 and NOD2 receptors to promote inflammatory responses 2. In Drosophila, ANKRD17 ortholog functions in the Hippo pathway as a Yorkie co-factor, suggesting roles in cell proliferation control 3. Clinically, heterozygous loss-of-function ANKRD17 variants cause Chopra-Amiel-Gordon syndrome, characterized by intellectual disability, speech delay, developmental delay, growth failure, epilepsy, and predisposition to recurrent infections 3. Recent studies implicate ANKRD17 dysfunction in autism spectrum disorder through synaptic protein dysregulation and mitochondrial dysfunction 4. ANKRD17 also emerges as an ASD risk gene across diverse populations 5. Conversely, ANKRD17 overexpression in hepatocellular carcinoma activates pro-survival signaling and epithelial-mesenchymal transition, promoting metastatic progression 6. ANKRD17 shows reduced expression in sporadic colorectal tumors compared to normal tissue, suggesting potential tumor suppressor activity 7.

Sources cited
1
ANKRD17 positively regulates RIG-I-like receptor (RLR) signaling by interacting with RIG-I, MDA5, and VISA to enhance IRF-3 and NF-ΞΊB activation
PMID: 22328336
2
ANKRD17 functions as a binding partner of NOD1 and NOD2 receptors in antibacterial innate immune responses
PMID: 23711367
3
Heterozygous ANKRD17 loss-of-function variants cause neurodevelopmental disorder with intellectual disability, speech delay, growth failure, epilepsy, and recurrent infections through haploinsufficiency mechanism
PMID: 33909992
4
ANKRD17 haploinsufficiency is associated with intellectual disability and autism spectrum disorder through synaptic protein dysregulation and mitochondrial dysfunction
PMID: 40604385
5
ANKRD17 is identified as a genome-wide significant autism spectrum disorder risk gene across diverse populations
PMID: 39830258
6
ANKRD17 overexpression in hepatocellular carcinoma promotes metastatic progression by activating pro-survival signaling and epithelial-mesenchymal transition
PMID: 40458187
7
ANKRD17 mRNA expression is reduced in sporadic colorectal cancer tumors compared to normal tissue, suggesting potential tumor suppressor function
PMID: 20593048
Disease Associationsβ“˜21
Chopra-Amiel-Gordon syndromeOpen Targets
0.78Strong
neurodegenerative diseaseOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.52Moderate
atrial fibrillationOpen Targets
0.38Weak
Neurodevelopmental disorderOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
syndromic complex neurodevelopmental disorderOpen Targets
0.37Weak
lip and oral cavity carcinomaOpen Targets
0.34Weak
placenta praeviaOpen Targets
0.34Weak
lymphatic system diseaseOpen Targets
0.28Weak
vein disorderOpen Targets
0.28Weak
Intellectual disabilityOpen Targets
0.27Weak
Neurodevelopmental delayOpen Targets
0.27Weak
pancreatic carcinomaOpen Targets
0.26Weak
ovarian dysfunctionOpen Targets
0.26Weak
tooth diseaseOpen Targets
0.24Weak
response to statinOpen Targets
0.23Weak
HypercholesterolemiaOpen Targets
0.23Weak
Disorder of lipid metabolismOpen Targets
0.23Weak
intracranial hemorrhageOpen Targets
0.22Weak
Chopra-Amiel-Gordon syndromeUniProt
Pathogenic Variants46
NM_032217.5(ANKRD17):c.4462_4466del (p.Arg1488fs)Pathogenic
not provided|Chopra-Amiel-Gordon syndrome
β˜…β˜…β˜†β˜†2025β†’ Residue 1488
NM_032217.5(ANKRD17):c.3271del (p.Cys1091fs)Pathogenic
Chopra-Amiel-Gordon syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1091
NM_032217.5(ANKRD17):c.5360_5363del (p.Gln1787fs)Pathogenic
Chopra-Amiel-Gordon syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 1787
NM_032217.5(ANKRD17):c.7214C>A (p.Ser2405Ter)Likely pathogenic
Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 2405
NM_032217.5(ANKRD17):c.2363T>A (p.Leu788Ter)Pathogenic
Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 788
NM_032217.5(ANKRD17):c.6878del (p.Asn2293fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 2293
NM_032217.5(ANKRD17):c.3070del (p.Asp1024fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1024
NM_032217.5(ANKRD17):c.4229_4232del (p.Asn1410fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1410
NM_032217.5(ANKRD17):c.1432G>A (p.Gly478Arg)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 478
NM_032217.5(ANKRD17):c.3769_3772del (p.Leu1256_Thr1257insTer)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2025β†’ Residue 1256
NM_032217.5(ANKRD17):c.2003T>G (p.Leu668Arg)Likely pathogenic
not provided|Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 668
NM_032217.5(ANKRD17):c.4453_4457del (p.Lys1485fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 1485
NM_032217.5(ANKRD17):c.5404G>T (p.Glu1802Ter)Likely pathogenic
Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 1802
NM_032217.5(ANKRD17):c.3334C>T (p.Arg1112Ter)Likely pathogenic
Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 1112
NM_032217.5(ANKRD17):c.7430del (p.Pro2477fs)Likely pathogenic
Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 2477
NM_032217.5(ANKRD17):c.1483G>T (p.Glu495Ter)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 495
NM_032217.5(ANKRD17):c.6502dup (p.Gln2168fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 2168
NM_032217.5(ANKRD17):c.6642_6646del (p.Pro2215fs)Likely pathogenic
Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 2215
NM_032217.5(ANKRD17):c.4442_4448del (p.Arg1481fs)Pathogenic
Chopra-Amiel-Gordon syndrome
β˜…β˜†β˜†β˜†2023β†’ Residue 1481
NM_032217.5(ANKRD17):c.988_989del (p.Gln330fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 330
View on ClinVar β†—
Related Genes
ANKHD1Protein interaction81%HUWE1Protein interaction81%PUM1Protein interaction80%WFDC12Shared pathway25%DEFB127Shared pathway22%ALPK1Shared pathway22%
Tissue Expression6 tissues
Brain
100%
Heart
85%
Liver
69%
Ovary
68%
Lung
68%
Bone Marrow
55%
Gene Interaction Network
Click a node to explore
ANKRD17ANKHD1HUWE1PUM1WFDC12DEFB127ALPK1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75179
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.12Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.05–0.12]
RankingsWhere ANKRD17 stands among ~20K protein-coding genes
  • #3,814of 20,598
    Most Researched123 Β· top quartile
  • #1,401of 5,498
    Most Pathogenic Variants46
  • #106of 17,882
    Most Constrained (LOEUF)0.12 Β· top 1%
Genes detectedANKRD17
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
PMID: 33909992
Am J Hum Genet Β· 2021
1.00
2
Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder.
PMID: 40604385
J Neurodev Disord Β· 2025
0.90
3
ANKRD17 induces pro-survival signaling pathways that enhance cellular invasion and migration during hepatocellular carcinoma tumorigenesis.
PMID: 40458187
iScience Β· 2025
0.80
4
Ankrd17 positively regulates RIG-I-like receptor (RLR)-mediated immune signaling.
PMID: 22328336
Eur J Immunol Β· 2012
0.70
5
Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.
PMID: 39830258
medRxiv Β· 2025
0.60