CLRN2
Clarin-2
Also known as: CLRN2_HUMAN, DFNB117
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A0PK11
- Gene
- CLRN2
- Ensembl
- ENSG00000249581
- Chromosome
- 4
- Canonical length
- 232 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted membrane proteins, Transporters
OverviewNCBI Gene
This gene belongs to the clarin family of genes. The clarins appear to belong to a large superfamily of small integral membrane glycoproteins with four transmembrane domains. The exact function of this gene is unknown. [provided by RefSeq, Oct 2008]
Canonical amino-acid sequenceUniProt
232 residues, UniProt reviewed canonical sequence.
>A0PK11|CLRN2
1 MPGWFKKAWY GLASLLSFSS FILIIVALVV PHWLSGKILC QTGVDLVNAT DRELVKFIGD
61 IYYGLFRGCK VRQCGLGGRQ SQFTIFPHLV KELNAGLHVM ILLLLFLALA LALVSMGFAI
121 LNMIQVPYRA VSGPGGICLW NVLAGGVVAL AIASFVAAVK FHDLTERIAN FQEKLFQFVV
181 VEEQYEESFW ICVASASAHA ANLVVVAISQ IPLPEIKTKI EEATVTAEDI LYLocalizationUniProt · AlphaFold · HPA
Whether an antibody against CLRN2 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
- 4
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 0.1 nTPM
Expression across tissuesHPA
Tissue
- kidney: 0.1 nTPM
- salivary gland: 0.1 nTPM
- testis: 0.1 nTPM
- adipose tissue: 0 nTPM
- adrenal gland: 0 nTPM
- amygdala: 0 nTPM
Single-cell type
- undifferentiated spermatogonia: 3.1 nCPM
- differentiating spermatogonia: 1.2 nCPM
- müller glia: 0.3 nCPM
- thyrotrophs: 0.3 nCPM
- vascular smooth muscle cells: 0.3 nCPM
- early primary spermatocytes: 0.2 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
- hypothalamus: 0.2 nTPM
- medulla oblongata: 0.2 nTPM
- thalamus: 0.2 nTPM
- basal ganglia: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
- hippocampal formation: 0.1 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about CLRN2.
Disease | AllUniProt
Conditions CLRN2 is implicated in, by any mechanism.
- Deafness, autosomal recessive, 117 (DFNB117) MIM:619174
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 44 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Hearing loss, autosomal recessive 117
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)
- 1.61
- gnomAD pLI
- 0
- gnomAD missense Z
- 0.26
- DepMap mean gene effect
- -0.02
- 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
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads CLRN2 as an antibody target. Whether an autoantibody or antibody against CLRN2 could matter depends on whether native CLRN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
CLRN2 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 CLRN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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