| ADAM30 | Vital | brain | Human: Letronne et al. 2016 (EBioMedicine, PMID 27333034) report from brain transcriptomics that ADAM30 expression is about 50% lower in Alzheimer's disease brains and inversely correlates with amyloid load, which implies measurable ADAM30 mRNA in non-diseased | https://pmc.ncbi.nlm.nih.gov/articles/PMC4972530/ (PMID 27333034) |
| BECN2 | Vital | brain | Human: UniProt (A8MW95) curates Beclin 2 as present in fetal and adult brain at protein level, citing He et al. 2013, even though the catalog shows 0.0 TPM off-target. | PMID 23954414 (PMC4231430, Fig. 1C); UniProt A8MW95 |
| DEFB106A/B | Vital | lung | Human: PCR on tissue cDNA panels showed DEFB106 expressed in lung, with in situ hybridization showing tissue- and cell-specific expression (Kao et al. 2003). UniProt summarises it as 'expressed specifically in epididymis and lung'. | PMID 12600824 (Kao et al. 2003, Am J Respir Cell Mol Biol 29:71); UniProt Q8N104 |
| DEFB118 | Vital | pancreas | Human: UniProt (Q96PH6) states DEFB118 is epididymis-specific at high level but 'also expressed in pancreas', attributing this to PMID 12600824. The abstract of that paper does not mention pancreas, so I could not confirm it in the primary source. | UniProt Q96PH6 (https://rest.uniprot.org/uniprotkb/Q96PH6.txt), citing PMID 12600824 |
| GALP | Vital | eye (cornea, iris, retina, choroid) | Alarin, a peptide made from a GALP splice variant lacking exon 3, shows immunoreactivity in human corneal epithelium and endothelium, around iris and retinal blood vessels and in intrinsic choroidal neurons; quantitative RT-PCR confirmed alarin mRNA in human r | PMID 23178871 (doi 10.1016/j.exer.2012.11.009) |
| GALR3 | Vital | adrenal gland, pancreas | The human cloning paper reports GALR3 mRNA highly expressed in human testis and detectable in adrenal gland and pancreas. Rat data (same era, PMID 9722565 abstract seen in search results only) describe a widely distributed, low-abundance transcript highest in | PMID 9832121; rat distribution PMID 9722565 |
| LRRC52 | Vital | skeletal muscle | Human: UniProt curates LRRC52 tissue specificity as 'mainly expressed in testis and skeletal muscle', citing Yan and Aldrich 2012 (PMID 22547800). The abstract of that paper, which I read, names only testis, so the skeletal muscle statement rests on the UniPro | PMID 22547800, full text PMC3356614, Fig. 4 and Discussion |
| MRGPRX1 | Vital | dorsal root ganglion / trigeminal ganglion (peripheral sensory neurons) | Human: qPCR of whole thoracolumbar DRG from 4 donors showed abundant MRGPRX1, and single-cell RT-PCR detected it in about 79% of 85 picked human DRG neurons (about 99% of those co-expressing TRPV1). Cultured human DRG neurons gave calcium responses to the MRGP | PMID 31536477 (PMC6824308), Results section 'Human DRG neurons express TGR5 and MrgprX1', Figures 11-12; also PMID 11850 |
| OBP2A | Vital | nasal mucosa, salivary gland, lachrymal gland, lung, liver | Human OBP2A is a secreted odorant-binding lipocalin. UniProt (Q9NY56) curates it as strongly expressed in nasal structures, salivary and lachrymal glands and lung (PMID 10607840), and expressed in liver (PMID 27827363). | PMID 10607840 (DOI 10.1093/hmg/9.2.289) for nasal/salivary/lachrymal/lung; PMID 27827363 (PMC5105165) for liver, weak |
| PRKACG | Vital | blood / bone marrow | Human: UniProt P22612 curates germline PRKACG variants (Ile74Met) as the cause of Bleeding disorder, platelet-type, 19 (MIM 616176), a macrothrombocytopenia with platelet dysfunction, citing Manchev et al., Blood 2014. This implies a functional role in the meg | Manchev VT et al., Blood 2014;124(16):2554-63, PMID 25061177, PMCID PMC4199957 (abstract read); UniProt P22612; OMIM 616 |
| SRY | Vital | brain (midbrain: substantia nigra, ventral tegmental area) | Human: SRY immunoreactivity was detected in adult male (not female) substantia nigra pars compacta within a subpopulation of TH-positive neurons, and in VTA and pars reticulata neurons. In human cell lines SRY knockdown reduced TH, DDC, DBH and MAO-A, so the a | PMID 22568433 (PMC3529967), Czech et al., J Neurochem 2012 |
| SULT6B1 | Vital | kidney | Human: RT-PCR found human SULT6B1 specifically expressed in kidney and testis (mouse and human cloning paper); UniProt curates the same tissue specificity. | PMID 19505954; UniProt Q6IMI4 |
| AADACL3 | Protected | skin | Human: HPA classes AADACL3 as tissue enhanced in placenta and skin and places it in the 'Skin - Keratinization' expression cluster; a search snippet of the HPA summary also lists sebaceous gland cells as an enriched cell type. No protein data (IHC pending, mas | https://www.proteinatlas.org/ENSG00000188984-AADACL3 (summary page, cell type enrichment) and https://www.proteinatlas.o |
| ASCL4 | Protected | skin | Human: the cloning paper (Jonsson 2004, Genomics 84:859-866, 'Hash4, a novel human achaete-scute homologue found in fetal skin') found Hash4/ASCL4 expression restricted to skin by real-time PCR, about 7-fold higher in fetal than adult skin, so adult skin is po | PMID 15475265 (Jonsson et al. 2004, Genomics 84:859-866); UniProt Q6XD76 tissue specificity |
| BPIFB3 | Protected | olfactory / nasal epithelium | Human: UniProt P59826 records BPIFB3 as detected in nasal septal epithelium (Bingle and Craven 2002). RNA-seq of human olfactory epithelium against 16 control tissues found BPI-fold proteins, together with lipocalins, to be the most over-expressed non-receptor | PMID 27515280, Additional files 2 and 3 (12864_2016_2960_MOESM2_ESM.xlsx, MOESM3_ESM.xlsx); UniProt P59826 |
| BPIFB6 | Protected | olfactory epithelium, tongue, minor salivary gland | Human: a 2025 preprint, citing the human olfactory transcriptome study, lists BPIFB6 with BPIFB3 and BPIFB4 among the most tissue-enriched, highly expressed genes in olfactory epithelium. Olender et al. state in their abstract that BPI-fold proteins show the h | PMID 27515280, Additional files 2 and 3 (12864_2016_2960_MOESM2_ESM.xlsx, MOESM3_ESM.xlsx) |
| CCN6 | Protected | articular cartilage (joints, spine) | Human: biallelic loss-of-function mutations in CCN6 (WISP3) cause progressive pseudorheumatoid dysplasia, a postnatal disorder with onset at about 3 to 8 years and continued cartilage loss, so the gene is needed for cartilage maintenance after birth. The mouse | PMID 10471507 |
| DEFB104A/B | Protected | stomach (gastric antrum); also neutrophils, thyroid, lung, kidney | Human: UniProt (Q8WTQ1), citing the original hBD-4 paper (PMID 11481241, 'a novel inducible peptide'), records high expression in testis, relatively high levels in gastric antrum, and lower expression in neutrophils, thyroid, lung and kidney. I read the UniPro | UniProt Q8WTQ1 (https://rest.uniprot.org/uniprotkb/Q8WTQ1.txt), citing Garcia et al. 2001 FASEB J 15:1819, PMID 11481241 |
| DEFB130A/B | Protected | blood / tissue macrophages | Human: Terkawi et al. 2017 (Sci Rep) found DEFB130 among the top three genes upregulated in macrophages phagocytosing Plasmodium falciparum-infected red cells; expression was higher in differentiated macrophages than in monocytes, knockdown increased parasite | Terkawi et al. 2017, Sci Rep 7:41772, PMID 28181499, https://pmc.ncbi.nlm.nih.gov/articles/PMC5299406 |
| NLRP11 | Protected | blood / immune system | In human macrophages NLRP11 binds ASC and NLRP3 and is required for NLRP3 inflammasome assembly; NLRP11 deletion blocks NLRP3 activation and siRNA knockdown in primary human macrophages reduces IL-1beta release (Nat Immunol 2022). The gene is absent in mice. | PMID 35624206 (PMC9174058; DOI 10.1038/s41590-022-01220-3) |
| RTP2 | Protected | tongue (taste epithelium) | Human: UniProt Q5QGT7 curates RTP2 as expressed in circumvallate papillae and testis, citing PMID 16720576. | PMID 16720576 (DOI 10.1074/jbc.M513637200), abstract only; UniProt Q5QGT7 and the RTP1 entry for the per-gene contrast |
| SCGB1C1 | Protected | nasal mucosa (upper airway) | Human: a Respiratory Research 2011 study of upper airway tissue reports that secretoglobins including SCGB1C1 (RYD5) are expressed in nasal mucosa and are differentially regulated by inflammatory cytokines. | PMID 21385388 / PMC3063214 (DOI 10.1186/1465-9921-12-28) |
| SCGB1D4 | Protected | lymph node and other lymphoid tissue | Human: SCGB1D4 (IIS) is reported as expressed in nearly all tissues, strongest in lymph node, tonsil, cultured lymphoblasts and ovary, and is inducible by interferon-gamma in lymphoblast cells (UniProt, citing PMID 15034037; Jackson et al. 2011 review). | PMID 15034037 (DOI 10.4049/jimmunol.172.7.4245), abstract; corroborated by PMID 21385388 / PMC3063214 |
| TCHHL1 | Protected | skin (epidermis) | Human: immunohistochemistry with TCHHL1 antibodies shows protein in the basal layer of normal epidermis and in cultured growing keratinocytes, with mRNA detected in normal skin and cultured keratinocytes. | PMID 23376073 |
| ZNRF4 | Protected | blood / innate immune system | ZNRF4 is an ER-anchored E3 ubiquitin ligase that degrades RIP2 and negatively regulates NOD2 signalling: Znrf4-knockdown monocytes showed sustained NF-kB activation, and Znrf4-knockdown mice had reduced NOD2-induced tolerance to MDP and cleared Listeria monocy | PMID 28656966 (full text PMC5493756) |