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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CSNK1G1
casein kinase 1 gamma 1
Chromosome 15 · 15q22.31
NCBI Gene: 53944Ensembl: ENSG00000169118.18HGNC: HGNC:2454UniProt: Q8IXA3
40PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Kinase
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein serine/threonine kinase activityprotein bindingcytosolsignal transductionGlobal developmental delayAbnormality of limbsIntellectual disabilityAbnormality of the face
✦AI Summary

CSNK1G1 encodes casein kinase 1 gamma 1, a serine/threonine-protein kinase that serves dual roles in normal and pathological biology. The gene produces two splice variants with distinct tissue distributions: the shorter isoform (CSNK1G1S) is predominantly testis-expressed, while the longer variant (CSNK1G1L) shows ubiquitous expression 1. Functionally, CSNK1G1 participates in cellular growth and morphogenesis through its role in Wnt signaling pathway regulation and phosphorylation of multiple substrates including N-methyl-D-aspartate receptors, supporting synaptic transmission in the brain 2. De novo heterozygous variants in CSNK1G1 cause syndromic developmental delay and autism spectrum disorder, with all five reported patients exhibiting developmental delay, dysmorphic facial features, and at least three showing autism spectrum disorder diagnosis 2. Beyond monogenic disease, CSNK1G1 shows pleiotropic involvement in complex disorders—genome-wide association studies identified CSNK1G1 as a novel shared genetic locus linking schizophrenia and inflammatory bowel disease, with genetic predisposition to schizophrenia showing causal association with increased IBD risk 3. Circular RNAs derived from CSNK1G1 function as oncogenic competitors in cancer progression. Circ-CSNK1G1 promotes thyroid cancer and triple-negative breast cancer by sponging miRNAs (miR-149-5p and miR-28-5p), thereby relieving suppression of downstream oncogenic targets (MAPK1 and LDHA) 4, 5. Similarly, circ0001955 derived from CSNK1G1 drives cervical cancer tumorigenesis via the miR-188-3p/NCAPG2 axis 6, establishing CSNK1G1 as a multi-functional regulator across neurodevelopmental, immunological, and malignant disease contexts.

Sources cited
1
CSNK1G1 produces two splice variants with differential tissue expression; CSNK1G1L is ubiquitously expressed while CSNK1G1S is predominantly testis-expressed
PMID: 11124537
2
De novo CSNK1G1 variants cause syndromic developmental delay and autism spectrum disorder; the protein regulates NMDA receptor phosphorylation and synaptic transmission
PMID: 33009664
3
CSNK1G1 is a novel pleiotropic gene linking schizophrenia and inflammatory bowel disease; genetic predisposition to schizophrenia shows causal association with increased IBD risk
PMID: 38563283
4
Circular RNA circ-CSNK1G1 promotes thyroid cancer by acting as miR-149-5p sponge and relieving suppression of MAPK1
PMID: 35023214
5
Circular RNA circ-CSNK1G1 promotes triple-negative breast cancer proliferation and glycolysis metabolism via the miR-28-5p/LDHA pathway
PMID: 36109751
6
Circular RNA circ0001955 derived from CSNK1G1 drives cervical cancer tumorigenesis via the miR-188-3p/NCAPG2 axis
PMID: 37248471
Disease Associationsⓘ20
Global developmental delayOpen Targets
0.37Weak
Abnormality of limbsOpen Targets
0.37Weak
Abnormality of the faceOpen Targets
0.37Weak
autismOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.37Weak
SeizureOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.25Weak
bronchiectasisOpen Targets
0.22Weak
Neurodevelopmental disorderOpen Targets
0.12Weak
neoplasmOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
thyroid cancerOpen Targets
0.07Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.04Suggestive
Blackfan-Diamond anemiaOpen Targets
0.04Suggestive
delta-beta-thalassemiaOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
Pathogenic Variants1
NM_022048.5(CSNK1G1):c.932dup (p.Thr312fs)Likely pathogenic
CSNK1G1-related developmental disorder with autism spectrum disorder
★☆☆☆2023→ Residue 312
View on ClinVar ↗
Related Genes
CSNK1G3Protein interaction81%CSNK1G2Protein interaction75%FNBP1Shared pathway50%ENTHD1Shared pathway50%TMEM198Shared pathway50%LYPD6Shared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
54%
Lung
53%
Ovary
45%
Heart
38%
Liver
35%
Gene Interaction Network
Click a node to explore
CSNK1G1CSNK1G3CSNK1G2FNBP1ENTHD1TMEM198LYPD6
PROTEIN STRUCTURE
Preparing viewer…
PDB2CMW · 1.75 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.25Tolerant
Observed/Expected LoF0.42 [0.27–0.65]
RankingsWhere CSNK1G1 stands among ~20K protein-coding genes
  • #10,154of 20,598
    Most Researched40
  • #5,169of 5,498
    Most Pathogenic Variants1
  • #4,731of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedCSNK1G1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Cloning, expression analysis and chromosome mapping of human casein kinase 1 gamma1 (CSNK1G1): identification of two types of cDNA encoding the kinase protein associated with heterologous carboxy-terminal sequences.
PMID: 11124537
Cytogenet Cell Genet · 2000
1.00
2
Shared genetic basis and causality between schizophrenia and inflammatory bowel disease: evidence from a comprehensive genetic analysis.
PMID: 38563283
Psychol Med · 2024
0.90
3
CircRNA casein kinase 1 gamma 1 (circ-CSNK1G1) plays carcinogenic effects in thyroid cancer by acting as miR-149-5p sponge and relieving the suppression of miR-149-5p on mitogen-activated protein kinase 1 (MAPK1).
PMID: 35023214
J Clin Lab Anal · 2022
0.80
4
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
PMID: 33009664
Clin Genet · 2020
0.70
5
Circ-CSNK1G1 promotes cell proliferation, migration, invasion and glycolysis metabolism during triple-negative breast cancer progression by modulating the miR-28-5p/LDHA pathway.
PMID: 36109751
Reprod Biol Endocrinol · 2022
0.60