HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
9 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANKRD49
ankyrin repeat domain 49
Chromosome 11 · 11q21
NCBI Gene: 54851Ensembl: ENSG00000168876.10HGNC: HGNC:25970UniProt: Q8WVL7
28PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of DNA-templated transcriptionnucleusneurodegenerative diseaseautoimmune disorder of musculoskeletal systemsystemic lupus erythematosuslung adenocarcinoma
✦AI Summary

ANKRD49 (ankyrin repeat domain 49) is a transcriptional regulator that induces HBG1 expression 12 and functions as a protein-binding domain protein involved in positive regulation of DNA-templated transcription. In spermatogenesis, ANKRD49 promotes autophagy via the NF-κB pathway and inhibits intrinsic apoptosis in germ cells by modulating NF-κB signaling 3. Clinically, ANKRD49 is significantly elevated across multiple carcinomas and serves as an independent prognostic indicator. In lung adenocarcinoma, ANKRD49 promotes invasion and metastasis through upregulation of matrix metalloproteinase-2 and -9 via the P38/ATF-2 signaling pathway 4 and facilitates epithelial-mesenchymal transition by interacting with PKNOX1 to activate the TGF-β1/SMAD pathway 5. In lung squamous cell carcinoma, elevated ANKRD49 correlates with lymph node metastasis and poor overall survival 6. Similarly, in glioma 7 and gastric cancer 8, high ANKRD49 expression is associated with advanced disease grade, increased proliferation, and poor prognosis. ANKRD49 represents a potential therapeutic target and biomarker for cancer patient stratification and treatment selection.

Sources cited
1
ANKRD49 induces HBG1 expression
PMID: 11162141
2
ANKRD49 induces HBG1 expression
PMID: 16131492
3
ANKRD49 inhibits etoposide-induced intrinsic apoptosis of germ cells by modulating NF-κB signaling
PMID: 30798416
4
ANKRD49 promotes lung adenocarcinoma invasion and metastasis via P38/ATF-2 pathway and upregulation of MMP-2 and MMP-9
PMID: 35775112
5
ANKRD49 promotes epithelial-mesenchymal transition in NSCLC via PKNOX1/TGF-β1/SMAD axis
PMID: 41821002
6
ANKRD49 is elevated in lung squamous cell carcinoma, correlates with metastasis, and is an independent prognostic marker
PMID: 35639405
7
High ANKRD49 expression in glioma is associated with high disease grade, poor overall survival, and promotes cell proliferation
PMID: 28694302
8
ANKRD49 is upregulated in gastric cancer, correlates with TNM stage and metastasis, and is an independent prognostic indicator
PMID: 29865034
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.46Moderate
autoimmune disorder of musculoskeletal systemOpen Targets
0.10Weak
systemic lupus erythematosusOpen Targets
0.10Weak
lung adenocarcinomaOpen Targets
0.08Suggestive
gliomaOpen Targets
0.06Suggestive
non-small cell lung carcinomaOpen Targets
0.06Suggestive
malignant gliomaOpen Targets
0.06Suggestive
Romano-Ward syndromeOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
Familial short QT syndromeOpen Targets
0.05Suggestive
catecholaminergic polymorphic ventricular tachycardiaOpen Targets
0.05Suggestive
familial atrial fibrillationOpen Targets
0.05Suggestive
Wolff-Parkinson-White SyndromeOpen Targets
0.04Suggestive
Brugada syndrome 1Open Targets
0.04Suggestive
long QT syndrome 13Open Targets
0.04Suggestive
dilated cardiomyopathy 1EOpen Targets
0.04Suggestive
short QT syndrome type 3Open Targets
0.04Suggestive
catecholaminergic polymorphic ventricular tachycardia 4Open Targets
0.04Suggestive
Brugada syndromeOpen Targets
0.04Suggestive
atrial fibrillation, familial, 9Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CSNK1DProtein interaction99%TRIT1Protein interaction93%FKBPLProtein interaction89%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
32%
Lung
24%
Liver
23%
Heart
16%
Brain
13%
Gene Interaction Network
Click a node to explore
ANKRD49CSNK1DTRIT1FKBPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8WVL7
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.22LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.53–1.22]
RankingsWhere ANKRD49 stands among ~20K protein-coding genes
  • #12,297of 20,598
    Most Researched28
  • #12,856of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedANKRD49
Sources retrieved9 papers
Response time—
📄 Sources
9▼
1
ANKRD49 promotes the invasion and metastasis of lung adenocarcinoma via a P38/ATF-2 signalling pathway.
PMID: 35775112
J Cell Mol Med · 2022
1.00
2
A Microarray Study on the Expression of ANKRD49 in Lung Squamous Cell Carcinoma and Its Clinicopathologic Significance.
PMID: 35639405
Appl Immunohistochem Mol Morphol · 2022
0.89
3
Up-regulation of ANKDR49, a poor prognostic factor, regulates cell proliferation of gliomas.
PMID: 28694302
Biosci Rep · 2017
0.78
4
ANKRD49 inhibits etoposide-induced intrinsic apoptosis of GC-1 cells by modulating NF-κB signaling.
PMID: 30798416
Mol Cell Biochem · 2019
0.67
5
A four-gene signature from NCI-60 cell line for survival prediction in non-small cell lung cancer.
PMID: 19920108
Clin Cancer Res · 2009
0.56