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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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PCDHGC4
protocadherin gamma subfamily C, 4
Chromosome 5 Β· 5q31.3
NCBI Gene: 56098Ensembl: ENSG00000242419.6HGNC: HGNC:8717UniProt: A0A087WUC2
14PubMed Papers
19Diseases
0Drugs
9Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell adhesionsynapse organizationplasma membranecell adhesion molecule bindingneurodevelopmental disorder with poor growth and skeletal anomaliescomplex neurodevelopmental disordergenetic disorderatrial flutter
✦AI Summary

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protocadherin gamma subfamily C, 4

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜19
neurodevelopmental disorder with poor growth and skeletal anomaliesOpen Targets
0.68Moderate
complex neurodevelopmental disorderOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
atrial flutterOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
Down syndromeOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.02Suggestive
microcephalyOpen Targets
0.01Suggestive
COVID-19Open Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Neurodevelopmental disorderOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
kidney cancerOpen Targets
0.00Suggestive
Intellectual disabilityOpen Targets
0.00Suggestive
Global developmental delayOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Neurodevelopmental delayOpen Targets
0.00Suggestive
SeizureOpen Targets
0.00Suggestive
Neurodevelopmental disorder with poor growth and skeletal anomaliesUniProt
Pathogenic Variants9
NM_018928.3(PCDHGC4):c.549del (p.Lys184fs)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 184
NM_018928.3(PCDHGC4):c.683_762del (p.Leu228fs)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜…β˜†β˜†β˜†2022β†’ Residue 228
NM_018928.3(PCDHGC4):c.2139dup (p.Lys714Ter)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜…β˜†β˜†β˜†2022β†’ Residue 714
NM_018928.3(PCDHGC4):c.1369C>T (p.Gln457Ter)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜…β˜†β˜†β˜†β†’ Residue 457
NM_018928.3(PCDHGC4):c.194_195del (p.Gln65fs)Likely pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜…β˜†β˜†β˜†β†’ Residue 65
NM_018928.3(PCDHGC4):c.1449C>G (p.Asp483Glu)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜†β˜†β˜†β˜†2022β†’ Residue 483
NM_018928.3(PCDHGC4):c.118C>T (p.Gln40Ter)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜†β˜†β˜†β˜†2022β†’ Residue 40
NM_018928.3(PCDHGC4):c.324del (p.Phe108fs)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜†β˜†β˜†β˜†2022β†’ Residue 108
NM_018928.3(PCDHGC4):c.1243C>T (p.Arg415Ter)Pathogenic
Neurodevelopmental disorder with poor growth and skeletal anomalies
β˜†β˜†β˜†β˜†2022β†’ Residue 415
View on ClinVar β†—
Related Genes
PCDHGC5Protein interaction82%PCDH10Shared pathway75%PCDHA1Shared pathway75%PCDHA2Shared pathway75%PCDHA3Shared pathway75%PCDHA4Shared pathway75%
Tissue Expression6 tissues
Brain
100%
Heart
9%
Ovary
4%
Lung
2%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
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PCDHGC4PCDHGC5PCDH10PCDHA1PCDHA2PCDHA3PCDHA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9Y5F7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.36Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.16–0.36]
RankingsWhere PCDHGC4 stands among ~20K protein-coding genes
  • #15,953of 20,598
    Most Researched14
  • #3,007of 5,498
    Most Pathogenic Variants9
  • #1,642of 17,882
    Most Constrained (LOEUF)0.36 Β· top 10%
Genes detectedPCDHGC4
Sources retrieved0 papers
Response timeβ€”