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GeneE
3 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CNTNAP3B
contactin associated protein family member 3B
Chromosome 9 Β· 9p11.2
NCBI Gene: 728577Ensembl: ENSG00000154529.16HGNC: HGNC:32035UniProt: Q96NU0
9PubMed Papers
19Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
signal transductionnervous system developmentplasma membranesynapse7q11.23 microduplication syndromeschizophrenia 19Monoamine oxidase A deficiencyDown syndrome
✦AI Summary

CNTNAP3B (contactin associated protein family member 3B) is a cell-matrix interaction molecule involved in nervous system development and synaptic function. As a contactin-associated protein family member, CNTNAP3B localizes to the plasma membrane and participates in signal transduction processes at the synapse 1. The gene encodes an extracellular matrix molecule implicated in cell-matrix interactions, which are critical for maintaining cellular architecture and tissue organization 1. Clinically, CNTNAP3B has emerging disease relevance across multiple conditions. In chr9 fibrosing idiopathic interstitial pneumonia (IIP), CNTNAP3B was among genes upregulated in patient lung tissue, suggesting involvement in pathological cell-matrix remodeling associated with pulmonary fibrosis 1. More recently, genome-wide association studies identified CNTNAP3B as a novel genetic risk factor for nonhereditary colorectal polyposis, previously unassociated with colorectal diseases 2. Additionally, CNTNAP3B mutations were identified as exclusive to conventional diffuse large B-cell lymphoma (DLBCL) with secondary bone marrow involvement in a distinct 16-gene mutational signature differentiating primary bone marrow LBCL from DLBCL 3. These findings suggest CNTNAP3B's dysregulation may contribute to multiple pathological processes involving tissue remodeling and cellular dysfunction, though its precise molecular mechanisms in disease remain incompletely understood.

Sources cited
1
CNTNAP3B is upregulated in chronic fibrosing IIP and encodes an extracellular matrix molecule involved in cell-matrix interactions
PMID: 28821283
2
CNTNAP3B identified as novel genetic risk factor for nonhereditary colorectal polyposis through GWAS
PMID: 39629711
3
CNTNAP3B mutations were exclusive to DLBCL in the 16-gene signature differentiating PBM-LBCL from DLBCL
PMID: 40774060
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜19
7q11.23 microduplication syndromeOpen Targets
0.07Suggestive
Monoamine oxidase A deficiencyOpen Targets
0.07Suggestive
schizophrenia 19Open Targets
0.07Suggestive
Down syndromeOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.01Suggestive
cutaneous lupus erythematosusOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.01Suggestive
metopic craniosynostosisOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.00Suggestive
ataxia telangiectasiaOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
diffuse large B-cell lymphomaOpen Targets
0.00Suggestive
major depressive disorderOpen Targets
0.00Suggestive
hypertrophic cardiomyopathyOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
papillary renal cell carcinomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
HOXB2Shared pathway100%MOBPShared pathway100%SCRG1Shared pathway100%IRF2BPLShared pathway100%NRSN2Shared pathway100%GNG8Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
64%
Liver
62%
Heart
33%
Ovary
20%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CNTNAP3BHOXB2MOBPSCRG1IRF2BPLNRSN2GNG8
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96NU0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.70LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.47 [0.32–0.70]
RankingsWhere CNTNAP3B stands among ~20K protein-coding genes
  • #17,304of 20,598
    Most Researched9
  • #5,332of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedCNTNAP3B
Sources retrieved3 papers
Response timeβ€”
πŸ“„ Sources
3
1
Genetic characteristics of primary bone marrow large B-cell lymphoma.
PMID: 40774060
Pathol Res Pract Β· 2025
1.00
2
Gene expression profiling of idiopathic interstitial pneumonias (IIPs): identification of potential diagnostic markers and therapeutic targets.
PMID: 28821283
BMC Med Genet Β· 2017
0.67
3
Identification of Genetic Factors Related With Nonhereditary Colorectal Polyposis and Its Recurrence Through Genome-Wide Association Study.
PMID: 39629711
J Gastroenterol Hepatol Β· 2025
0.33