Seroatlas · Human Serome Atlas

KBTBD2

Kelch repeat and BTB domain-containing protein 2

Also known as: BKLHD1, DKFZP566C134, KBTB2_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8IY47
Gene: KBTBD2
Ensembl: ENSG00000170852
Chromosome: 7
Canonical length: 623 aa
Protein class: Predicted intracellular proteins
Subcellular location: Nucleoplasm,Nucleoli fibrillar center

OverviewNCBI Gene

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein K48-linked ubiquitination and regulation of cellular response to insulin stimulus. Is active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

623 residues, UniProt reviewed canonical sequence.

>Q8IY47|KBTBD2
     1  MSTQDERQIN TEYAVSLLEQ LKLFYEQQLF TDIVLIVEGT EFPCHKMVLA TCSSYFRAMF
    61  MSGLSESKQT HVHLRNVDAA TLQIIITYAY TGNLAMNDST VEQLYETACF LQVEDVLQRC
   121  REYLIKKINA ENCVRLLSFA DLFSCEELKQ SAKRMVEHKF TAVYHQDAFM QLSHDLLIDI
   181  LSSDNLNVEK EETVREAAML WLEYNTESRS QYLSSVLSQI RIDALSEVTQ RAWFQGLPPN
   241  DKSVVVQGLY KSMPKFFKPR LGMTKEEMMI FIEASSENPC SLYSSVCYSP QAEKVYKLCS
   301  PPADLHKVGT VVTPDNDIYI AGGQVPLKNT KTNHSKTSKL QTAFRTVNCF YWFDAQQNTW
   361  FPKTPMLFVR IKPSLVCCEG YIYAIGGDSV GGELNRRTVE RYDTEKDEWT MVSPLPCAWQ
   421  WSAAVVVHDC IYVMTLNLMY CYFPRSDSWV EMAMRQTSRS FASAAAFGDK IFYIGGLHIA
   481  TNSGIRLPSG TVDGSSVTVE IYDVNKNEWK MAANIPAKRY SDPCVRAVVI SNSLCVFMRE
   541  THLNERAKYV TYQYDLELDR WSLRQHISER VLWDLGRDFR CTVGKLYPSC LEESPWKPPT
   601  YLFSTDGTEE FELDGEMVAL PPV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KBTBD2 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): 0.29
Highest tissue expression: 54 nTPM

Expression across tissuesHPA

Tissue

skeletal muscle: 54 nTPM
bone marrow: 51 nTPM
tongue: 38 nTPM
thymus: 28 nTPM
adipose tissue: 26 nTPM
spleen: 26 nTPM

Single-cell type

neutrophils: 221 nCPM
neutrophil progenitors: 108 nCPM
vascular endothelial cells: 105 nCPM
nk-cells: 91 nCPM
monocytes: 88 nCPM
lymphatic endothelial cells: 81 nCPM

Immune cell

neutrophil: 39 nTPM
eosinophil: 20 nTPM
non-classical monocyte: 15 nTPM
basophil: 14 nTPM
intermediate monocyte: 12 nTPM
gdT-cell: 11 nTPM

Brain region

white matter: 46 nTPM
cerebellum: 45 nTPM
pons: 44 nTPM
medulla oblongata: 44 nTPM
spinal cord: 43 nTPM
thalamus: 43 nTPM

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): 0.23
gnomAD pLI: 1
gnomAD missense Z: 2.69
DepMap mean gene effect: -0.15
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 13% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

ubiquitin-like ligase-substrate adaptor activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

BTB/POZ domain
Kelch repeat type 1
SKP1/BTB/POZ domain superfamily
BTB/Kelch-associated
Kelch-type beta-propeller
BTB-kelch protein
BTB/POZ domain
Kelch motif
BTB And C-terminal Kelch
Kelch repeat and BTB domain-containing protein 2, BTB/POZ domain
Kelch repeat and BTB domain-containing protein 2, BACK domain

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KBTBD2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CUL3

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KBTBD2 as an antibody target. Whether an autoantibody or antibody against KBTBD2 could matter depends on whether native KBTBD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KBTBD2 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 KBTBD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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