KLHDC8B
Kelch domain-containing protein 8B
Also known as: KLD8B_HUMAN, MGC35097
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q8IXV7
- Gene
- KLHDC8B
- Ensembl
- ENSG00000185909
- Chromosome
- 3
- Canonical length
- 354 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
This gene encodes a protein which forms a distinct beta-propeller protein structure of kelch domains allowing for protein-protein interactions. Mutations in this gene have been associated with Hodgkin lymphoma. [provided by RefSeq, Sep 2010]
Canonical amino-acid sequenceUniProt
354 residues, UniProt reviewed canonical sequence.
>Q8IXV7|KLHDC8B
1 MSAGGGRAFA WQVFPPMPTC RVYGTVAHQD GHLLVLGGCG RAGLPLDTAE TLDMASHTWL
61 ALAPLPTARA GAAAVVLGKQ VLVVGGVDEV QSPVAAVEAF LMDEGRWERR ATLPQAAMGV
121 ATVERDGMVY ALGGMGPDTA PQAQVRVYEP RRDCWLSLPS MPTPCYGAST FLHGNKIYVL
181 GGRQGKLPVT AFEAFDLEAR TWTRHPSLPS RRAFAGCAMA EGSVFSLGGL QQPGPHNFYS
241 RPHFVNTVEM FDLEHGSWTK LPRSLRMRDK RADFVVGSLG GHIVAIGGLG NQPCPLGSVE
301 SFSLARRRWE ALPAMPTARC SCSSLQAGPR LFVIGGVAQG PSQAVEALCL RDGVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against KLHDC8B 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
- 124 nTPM
Expression across tissuesHPA
Tissue
- adrenal gland: 124 nTPM
- ovary: 66 nTPM
- heart muscle: 66 nTPM
- choroid plexus: 53 nTPM
- colon: 52 nTPM
- esophagus: 29 nTPM
Single-cell type
- platelets: 388 nCPM
- granulosa cells: 97 nCPM
- esophageal suprabasal cells: 63 nCPM
- esophageal apical cells: 61 nCPM
- syncytiotrophoblasts: 56 nCPM
- adrenal cortex cells: 53 nCPM
Immune cell
- eosinophil: 29 nTPM
- neutrophil: 9.7 nTPM
- non-classical monocyte: 8.4 nTPM
- intermediate monocyte: 8 nTPM
- classical monocyte: 5.4 nTPM
- total PBMC: 2.4 nTPM
Brain region
- choroid plexus: 40 nTPM
- hypothalamus: 32 nTPM
- pons: 22 nTPM
- thalamus: 20 nTPM
- midbrain: 18 nTPM
- basal ganglia: 16 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about KLHDC8B.
Disease | AllUniProt
Conditions KLHDC8B is implicated in, by any mechanism.
- Lymphoma, Hodgkin, classic (CHL) MIM:236000
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)
- 1.04
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.59
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- mitotic cytokinetic process
- mitotic nuclear division
- nuclear chromosome segregation
Cellular components
- cytoplasm
- cytosol
- intercellular bridge
- midbody
- cellularization cleavage furrow
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads KLHDC8B as an antibody target. Whether an autoantibody or antibody against KLHDC8B could matter depends on whether native KLHDC8B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
KLHDC8B 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 KLHDC8B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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