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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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KREMEN1
kringle containing transmembrane protein 1
Chromosome 22 · 22q12.1
NCBI Gene: 83999Ensembl: ENSG00000183762.14HGNC: HGNC:17550UniProt: Q96MU8
35PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Apoptosis
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingplasma membranenegative regulation of canonical Wnt signaling pathwayapoptotic processautosomal recessive hypohidrotic ectodermal dysplasiahair colorgenetic disorderhypertension
✦AI Summary

KREMEN1 is a transmembrane receptor that primarily functions as a Wnt/β-catenin pathway regulator. As a receptor for Dickkopf proteins (DKK1/2), KREMEN1 cooperates to inhibit canonical Wnt signaling by promoting endocytosis of Wnt receptors LRP5 and LRP6 1. In the absence of DKK1 ligand binding, KREMEN1 maintains LRP5/6 at the cell membrane, potentiating Wnt signaling [UniProt]. KREMEN1 also triggers ligand-independent apoptosis, an activity inhibited upon DKK1 binding [UniProt]. During development, KREMEN1 regulates limb patterning by attenuating Wnt signaling and negatively regulates bone formation and hair cell fate specification in the developing cochlea [UniProt]. Neurologically, Kremen1+ striatonigral neurons suppress locomotion by inhibiting dopaminergic neurons through GABBR1-mediated signaling, opposing the locomotion-promoting effects of Calb1+ neurons 2. Beyond developmental functions, KREMEN1 serves as an alternative ACE2-independent receptor for SARS-CoV-2 entry 3, 4, and functions as a host entry receptor for coxsackievirus A10 and related enteroviruses, with VP2 residue N142 being critical for viral attachment 5, 6. Clinically, biallelic KREMEN1 variants cause ectodermal dysplasia with severe tooth agenesis and sparse hair 1, 7, and KREMEN1 variants show protective associations with primary open-angle glaucoma 8.

Sources cited
1
KREMEN1 binds DKK1 and LRP5/6 in Wnt/β-catenin pathway; pathogenic variants impair complex formation and reduce glycosylation
PMID: 40553753
2
Kremen1+ striatonigral neurons suppress locomotion by inhibiting dopaminergic neuron activity via GABBR1 receptors
PMID: 40108161
3
KREMEN1 identified as alternative functional receptor for SARS-CoV-2 entry independent of ACE2
PMID: 34837059
4
KREMEN1 listed as ACE2-independent alternative receptor for SARS-CoV-2 viral entry
PMID: 36423144
5
KREMEN1 is host entry receptor for coxsackievirus A10; Kremen-deficient mice resistant to CV-A10-induced lethal paralysis
PMID: 29681460
6
VP2 residue N142 of CVA10 critical for KREMEN1 receptor binding, viral attachment, and pathogenicity in mice
PMID: 37788227
7
KREMEN1 identified as protective candidate gene for primary open-angle glaucoma through transcriptome-wide association study
PMID: 40459497
8
Biallelic KREMEN1 variants cause ectodermal dysplasia with severe tooth agenesis and sparse scalp hair
PMID: 40553753
9
KREMEN1 variants associated with tooth agenesis; KREMEN1 component of Wnt signaling pathway relevant to odontogenesis
PMID: 33249565
Disease Associationsⓘ21
autosomal recessive hypohidrotic ectodermal dysplasiaOpen Targets
0.53Moderate
hair colorOpen Targets
0.43Moderate
genetic disorderOpen Targets
0.41Moderate
hypertensionOpen Targets
0.33Weak
lymphatic system diseaseOpen Targets
0.33Weak
vein disorderOpen Targets
0.32Weak
androgenetic alopeciaOpen Targets
0.31Weak
breast carcinomaOpen Targets
0.26Weak
DNA methylationOpen Targets
0.26Weak
Uterine leiomyomaOpen Targets
0.24Weak
alcohol drinkingOpen Targets
0.23Weak
idiopathic pulmonary fibrosisOpen Targets
0.22Weak
infantile cerebellar-retinal degenerationOpen Targets
0.12Weak
Abdominal Aortic AneurysmOpen Targets
0.05Suggestive
glaucomaOpen Targets
0.05Suggestive
cancerOpen Targets
0.05Suggestive
Abnormality of the skeletal systemOpen Targets
0.05Suggestive
response to statinOpen Targets
0.05Suggestive
benign neoplasm of rectumOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
Ectodermal dysplasia 13, hair/tooth typeUniProt
Pathogenic Variants2
NM_001039570.3(KREMEN1):c.357del (p.Gly120fs)Pathogenic
Inborn genetic diseases
★☆☆☆2022→ Residue 120
NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser)Pathogenic
Ectodermal dysplasia 13, hair/tooth type
☆☆☆☆2017→ Residue 209
View on ClinVar ↗
Related Genes
DKK3Protein interaction100%LRP6Protein interaction98%LRP5Protein interaction98%WNT1Protein interaction98%DKK4Protein interaction98%DKK2Protein interaction98%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
24%
Lung
0%
Brain
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
KREMEN1DKK3LRP6LRP5WNT1DKK4DKK2
PROTEIN STRUCTURE
Preparing viewer…
PDB5FWS · 1.90 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.44–0.85]
RankingsWhere KREMEN1 stands among ~20K protein-coding genes
  • #11,000of 20,598
    Most Researched35
  • #4,487of 5,498
    Most Pathogenic Variants2
  • #7,349of 17,882
    Most Constrained (LOEUF)0.85
Genes detectedKREMEN1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Receptome profiling identifies KREMEN1 and ASGR1 as alternative functional receptors of SARS-CoV-2.
PMID: 34837059
Cell Res · 2022
1.00
2
Molecularly distinct striatonigral neuron subtypes differentially regulate locomotion.
PMID: 40108161
Nat Commun · 2025
0.90
3
ACE2-Independent Alternative Receptors for SARS-CoV-2.
PMID: 36423144
Viruses · 2022
0.80
4
Cross-Tissue Transcriptome-Wide Association Study Identifies Novel Genes Associated With POAG.
PMID: 40459497
Invest Ophthalmol Vis Sci · 2025
0.70
5
KREMEN1 Variants Associated with Ectodermal Dysplasia Impair Complex Formation of KREMEN1 with DKK1 and LRP6 and Attenuate WNT3A Response.
PMID: 40553753
J Invest Dermatol · 2026
0.60