CRYGC
Gamma-crystallin C
Also known as: CRGC_HUMAN, CRYG3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P07315
- Gene
- CRYGC
- Ensembl
- ENSG00000163254
- Chromosome
- 2
- Canonical length
- 174 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Vesicles,Cytosol
OverviewNCBI Gene
This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others. [provided by RefSeq, Jan 2015]
Canonical amino-acid sequenceUniProt
174 residues, UniProt reviewed canonical sequence.
>P07315|CRYGC
1 MGKITFYEDR AFQGRSYETT TDCPNLQPYF SRCNSIRVES GCWMLYERPN YQGQQYLLRR
61 GEYPDYQQWM GLSDSIRSCC LIPQTVSHRL RLYEREDHKG LMMELSEDCP SIQDRFHLSE
121 IRSLHVLEGC WVLYELPNYR GRQYLLRPQE YRRCQDWGAM DAKAGSLRRV VDLYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CRYGC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.25
- Highest tissue expression
- 1.6 nTPM
Expression across tissuesHPA
Tissue
- testis: 1.6 nTPM
- epididymis: 0.1 nTPM
- hypothalamus: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
Single-cell type
- late primary spermatocytes: 3.6 nCPM
- undifferentiated spermatogonia: 2 nCPM
- late spermatids: 1.1 nCPM
- early spermatids: 0.6 nCPM
- differentiating spermatogonia: 0.4 nCPM
- early primary spermatocytes: 0.4 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- medulla oblongata: 0.3 nTPM
- pons: 0.2 nTPM
- amygdala: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
- hypothalamus: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CRYGC.
Disease | AllUniProt
Conditions CRYGC is implicated in, by any mechanism.
- Cataract 2, multiple types (CTRCT2) MIM:604307
Disease | GeneticClinVar
24 pathogenic / likely-pathogenic of 111 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Cataract 2, multiple types
- Nuclear pulverulent cataract
- CRYGC-related disorder
- Developmental cataract
- Cataract 2, Coppock-like
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.31
- gnomAD pLI
- 0
- gnomAD missense Z
- -0.6
- DepMap mean gene effect
- -0.12
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of CRYGC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CRYGC as an antibody target. Whether an autoantibody or antibody against CRYGC could matter depends on whether native CRYGC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CRYGC is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label CRYGC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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