BTBD18
BTB/POZ domain-containing protein 18
Also known as: BTBDI_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- B2RXH4
- Gene
- BTBD18
- Ensembl
- ENSG00000233436
- Chromosome
- 11
- Canonical length
- 712 aa
- Protein class
- Predicted intracellular proteins
- Subcellular location
- Nucleoplasm,Vesicles,Plasma membrane
OverviewNCBI Gene
Predicted to be involved in male meiosis I; piRNA transcription; and spermatogenesis. Predicted to act upstream of with a positive effect on transposable element silencing. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
712 residues, UniProt reviewed canonical sequence.
>B2RXH4|BTBD18
1 MCSPASPKIL YRNPRFLRLA FLQLHHQQQS DVFCDVLLQA EGEAVPAHCC ILSACSPFFT
61 ERLERERPAQ GGKVVLELGG LKISTLRKLV DFLYTSEMEV SQEEAQDVLS AARQLRVSEL
121 ESLQLEGGKL VKAPQGRRLN RECLQPTSAA PISARVVTPS HHPHTPLPTN QTPCPLGAIR
181 LKSLGKEEGP QENNRQNADN LSGTLLLKRK ARACPTPQEK NSSPSSHSQE PRENKNDTAL
241 DPTVLSPPSL YPSVDKHLLP RKIRLSRSKP SPGICTSKPS SILSGSSSVP ATPGRRLWRQ
301 RSVNKETPED KPKPGRASPL QSTPNPSGLG KTGGSRKRSP EVRAPNSDSA EEGQVGRVKL
361 RKIVNGTCWE VVQETPLKNT QDSPQIPDPG GDFQEPSGTQ PFSSNEQEMS PTRTELCQDS
421 PMCTKLQDIL VSASHSPDHP VVKSEFESSP ELVEKEPMLA IDCREPYAFD TALLEQPCEA
481 EEYRITSAAA TSELEEILDF MLCGSDIEPP IGSLESPGAE GCRTPTYHLT ETGKNWIEGE
541 EWCLPDMELW PRELTELEKE PAGENRGPTE LLSPLVMPSE VSEVLSVGGR WTPDLEITSS
601 QPLDGQEDKL LHVSSLDTPQ RSYGDLSPPC SNWVETGLEV SLTTDELLYP SPKAGKEVSG
661 HSELLGSLPA SSEEEEIDVV DWTAEGRLVP TTVPSVWPDP SSESETEVDI LTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against BTBD18 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)
- 0.65
- Highest tissue expression
- 2.1 nTPM
Expression across tissuesHPA
Tissue
- testis: 2.1 nTPM
- cerebellum: 0.2 nTPM
- skin: 0.2 nTPM
- basal ganglia: 0.1 nTPM
- bone marrow: 0.1 nTPM
- cerebral cortex: 0.1 nTPM
Single-cell type
- epicardial cells: 71 nCPM
- cardiomyocytes: 47 nCPM
- myonuclei: 18 nCPM
- adipocytes: 16 nCPM
- medullary thymic epithelial cells: 12 nCPM
- retinal amacrine cells: 9.6 nCPM
Immune cell
- naive B-cell: 0.4 nTPM
- naive CD4 T-cell: 0.3 nTPM
- intermediate monocyte: 0.2 nTPM
- memory CD4 T-cell: 0.2 nTPM
- classical monocyte: 0.1 nTPM
- memory B-cell: 0.1 nTPM
Brain region
- cerebellum: 8.2 nTPM
- cerebral cortex: 6.6 nTPM
- white matter: 5.5 nTPM
- amygdala: 5.4 nTPM
- basal ganglia: 5.2 nTPM
- hippocampal formation: 5.2 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)
- 0.21
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.65
- DepMap mean gene effect
- 0.07
- 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
- cell differentiation
- male meiosis I
- positive regulation of transcription elongation by RNA polymerase II
- spermatogenesis
- transposable element silencing
- piRNA transcription
Cellular components
Protein domainsUniProt · Pfam · InterPro
- BTB/POZ domain
- SKP1/BTB/POZ domain superfamily
- BTB/POZ domain
- BTB/POZ domain-containing protein 18
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads BTBD18 as an antibody target. Whether an autoantibody or antibody against BTBD18 could matter depends on whether native BTBD18 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
BTBD18 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 BTBD18 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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