Details for: PCDH12

Gene ID: 51294

Symbol: PCDH12

Ensembl ID: ENSG00000113555

Description: protocadherin 12

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 14.8182
    Cell Significance Index: -6.0200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 6.3368
    Cell Significance Index: -6.0500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 3.0377
    Cell Significance Index: 158.2300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 1.7537
    Cell Significance Index: -6.9200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 1.3176
    Cell Significance Index: 20.3900
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 1.1128
    Cell Significance Index: 4.1500
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.9462
    Cell Significance Index: 25.3100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 0.3887
    Cell Significance Index: 3.1700
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2781
    Cell Significance Index: 4.0000
  • Cell Name: surface ectodermal cell (CL0000114)
    Fold Change: 0.2145
    Cell Significance Index: 1.6900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.1435
    Cell Significance Index: 1.6300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.1258
    Cell Significance Index: 0.7600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0755
    Cell Significance Index: 14.9900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0158
    Cell Significance Index: 2.3000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0132
    Cell Significance Index: 4.7300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0083
    Cell Significance Index: 1.6600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0044
    Cell Significance Index: 8.2000
  • Cell Name: endothelial cell of hepatic sinusoid (CL1000398)
    Fold Change: 0.0042
    Cell Significance Index: 0.0400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0041
    Cell Significance Index: 1.1700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0021
    Cell Significance Index: 3.2300
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: 0.0006
    Cell Significance Index: 0.0000
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0003
    Cell Significance Index: -0.0500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0032
    Cell Significance Index: -5.9500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0045
    Cell Significance Index: -2.8600
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0061
    Cell Significance Index: -8.2800
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0088
    Cell Significance Index: -6.6900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0116
    Cell Significance Index: -8.6100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0119
    Cell Significance Index: -0.6000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0131
    Cell Significance Index: -7.1400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0147
    Cell Significance Index: -8.3200
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0154
    Cell Significance Index: -0.2200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0155
    Cell Significance Index: -7.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0180
    Cell Significance Index: -2.2100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0203
    Cell Significance Index: -2.6000
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: -0.0303
    Cell Significance Index: -0.1900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0398
    Cell Significance Index: -8.3800
  • Cell Name: endothelial cell of sinusoid (CL0002262)
    Fold Change: -0.0430
    Cell Significance Index: -0.3200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0437
    Cell Significance Index: -1.9000
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0458
    Cell Significance Index: -4.6800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0477
    Cell Significance Index: -8.1400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0531
    Cell Significance Index: -6.8600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0556
    Cell Significance Index: -7.6300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0600
    Cell Significance Index: -7.0800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0665
    Cell Significance Index: -6.9200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0725
    Cell Significance Index: -8.3100
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0738
    Cell Significance Index: -1.0100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0769
    Cell Significance Index: -5.1700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0819
    Cell Significance Index: -6.4900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0846
    Cell Significance Index: -6.4900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0951
    Cell Significance Index: -7.0900
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.0957
    Cell Significance Index: -1.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0969
    Cell Significance Index: -4.5200
  • Cell Name: endothelial tip cell (CL0000704)
    Fold Change: -0.1093
    Cell Significance Index: -0.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1114
    Cell Significance Index: -6.8500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1116
    Cell Significance Index: -2.9900
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1155
    Cell Significance Index: -1.9800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1206
    Cell Significance Index: -6.7700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1209
    Cell Significance Index: -3.3800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1272
    Cell Significance Index: -5.9800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1282
    Cell Significance Index: -5.2500
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1336
    Cell Significance Index: -5.9100
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1343
    Cell Significance Index: -1.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1353
    Cell Significance Index: -7.0300
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: -0.1442
    Cell Significance Index: -0.9900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.1449
    Cell Significance Index: -2.5600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1518
    Cell Significance Index: -5.7500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1531
    Cell Significance Index: -6.9400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1541
    Cell Significance Index: -8.0900
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: -0.1568
    Cell Significance Index: -1.2700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1704
    Cell Significance Index: -4.3800
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.1727
    Cell Significance Index: -6.0500
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1788
    Cell Significance Index: -4.4600
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.1847
    Cell Significance Index: -2.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1881
    Cell Significance Index: -6.5400
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.1915
    Cell Significance Index: -2.6300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1988
    Cell Significance Index: -3.8800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2057
    Cell Significance Index: -6.7400
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: -0.2066
    Cell Significance Index: -2.5400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.2097
    Cell Significance Index: -5.6000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2101
    Cell Significance Index: -6.6900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2136
    Cell Significance Index: -6.2900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.2150
    Cell Significance Index: -4.5000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.2275
    Cell Significance Index: -6.6800
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.2310
    Cell Significance Index: -4.7000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2369
    Cell Significance Index: -6.7600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2384
    Cell Significance Index: -6.8400
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2464
    Cell Significance Index: -6.4800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2484
    Cell Significance Index: -9.1200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.2541
    Cell Significance Index: -8.9300
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: -0.2562
    Cell Significance Index: -2.9100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2646
    Cell Significance Index: -6.6000
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.2656
    Cell Significance Index: -3.8900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2659
    Cell Significance Index: -7.6600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2752
    Cell Significance Index: -7.0300
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: -0.2771
    Cell Significance Index: -2.8700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2818
    Cell Significance Index: -7.1800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2840
    Cell Significance Index: -6.8100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2886
    Cell Significance Index: -6.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2895
    Cell Significance Index: -4.8500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2898
    Cell Significance Index: -6.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Cell-cell adhesion:** PCDH12 mediates homophilic adhesion, where two cells express the same protocadherin molecule, facilitating cell-cell interactions and tissue organization. 2. **Calcium-dependent:** The binding of calcium ions to PCDH12 is essential for its function, as it regulates the conformation and activity of the molecule. 3. **Signaling:** PCDH12 can also participate in signaling pathways, influencing cell behavior, differentiation, and survival. 4. **Widespread expression:** PCDH12 is expressed in various cell types, including retinal cells, endothelial cells, and enteroendocrine cells, highlighting its diverse roles in the body. **Pathways and Functions:** 1. **Calcium-dependent cell-cell adhesion:** PCDH12 mediates adhesion through its calcium-dependent binding to the plasma membrane, facilitating cell-cell interactions. 2. **Neuron recognition:** In the nervous system, PCDH12 plays a crucial role in neuron recognition and differentiation, particularly in the development of the retina. 3. **Immune cell signaling:** PCDH12 can participate in signaling pathways that regulate immune cell function, including endothelial cell activation and enteroendocrine cell signaling. 4. **Glycogen metabolic process:** PCDH12 is involved in the regulation of glycogen metabolism, particularly in the liver and kidney. **Clinical Significance:** Dysregulation of PCDH12 has been implicated in various diseases, including: 1. **Neurodevelopmental disorders:** Mutations in PCDH12 have been associated with neurodevelopmental disorders, such as autism spectrum disorder and schizophrenia. 2. **Immune disorders:** Alterations in PCDH12 expression have been linked to immune disorders, including multiple sclerosis and rheumatoid arthritis. 3. **Cancer:** PCDH12 has been identified as a potential oncogene in certain cancers, including lung and breast cancer. 4. **Retinal diseases:** PCDH12 plays a crucial role in retinal development and function, and its dysregulation has been implicated in retinal diseases, such as macular degeneration. In conclusion, PCDH12 is a multifunctional protein that plays a critical role in cell-cell adhesion, signaling, and immune function. Its dysregulation has been implicated in various diseases, highlighting the importance of further research into the molecular mechanisms underlying PCDH12 function and its clinical significance.

Genular Protein ID: 3582074919

Symbol: PCD12_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9NPG4 Q6UXB6 Q96KB8 Q9H7Y6 Q9H8E0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 7 Ensembl 1 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 5 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10716726

Title: Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes.

PubMed ID: 10716726

DOI: 10.1073/pnas.97.7.3124

PubMed ID: 11063261

Title: cDNA cloning, chromosomal mapping, and expression analysis of human VE-cadherin-2.

PubMed ID: 11063261

DOI: 10.1007/s003350010186

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 21402705

Title: Protocadherin-12 cleavage is a regulated process mediated by ADAM10 protein: evidence of shedding up-regulation in pre-eclampsia.

PubMed ID: 21402705

DOI: 10.1074/jbc.m111.230045

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 27164683

Title: Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

PubMed ID: 27164683

DOI: 10.1212/wnl.0000000000002704

PubMed ID: 28804758

Title: variants.

PubMed ID: 28804758

DOI: 10.1212/nxg.0000000000000166

Sequence Information:

  • Length: 1184
  • Mass: 128995
  • Checksum: 45314473DC503E8D
  • Sequence:
    • MMQLLQLLLG LLGPGGYLFL LGDCQEVTTL TVKYQVSEEV PSGTVIGKLS QELGREERRR 
QAGAAFQVLQ LPQALPIQVD SEEGLLSTGR RLDREQLCRQ WDPCLVSFDV LATGDLALIH 
VEIQVLDIND HQPRFPKGEQ ELEISESASL RTRIPLDRAL DPDTGPNTLH TYTLSPSEHF 
ALDVIVGPDE TKHAELIVVK ELDREIHSFF DLVLTAYDNG NPPKSGTSLV KVNVLDSNDN 
SPAFAESSLA LEIQEDAAPG TLLIKLTATD PDQGPNGEVE FFLSKHMPPE VLDTFSIDAK 
TGQVILRRPL DYEKNPAYEV DVQARDLGPN PIPAHCKVLI KVLDVNDNIP SIHVTWASQP 
SLVSEALPKD SFIALVMADD LDSGHNGLVH CWLSQELGHF RLKRTNGNTY MLLTNATLDR 
EQWPKYTLTL LAQDQGLQPL SAKKQLSIQI SDINDNAPVF EKSRYEVSTR ENNLPSLHLI 
TIKAHDADLG INGKVSYRIQ DSPVAHLVAI DSNTGEVTAQ RSLNYEEMAG FEFQVIAEDS 
GQPMLASSVS VWVSLLDAND NAPEVVQPVL SDGKASLSVL VNASTGHLLV PIETPNGLGP 
AGTDTPPLAT HSSRPFLLTT IVARDADSGA NGEPLYSIRS GNEAHLFILN PHTGQLFVNV 
TNASSLIGSE WELEIVVEDQ GSPPLQTRAL LRVMFVTSVD HLRDSARKPG ALSMSMLTVI 
CLAVLLGIFG LILALFMSIC RTEKKDNRAY NCREAESTYR QQPKRPQKHI QKADIHLVPV 
LRGQAGEPCE VGQSHKDVDK EAMMEAGWDP CLQAPFHLTP TLYRTLRNQG NQGAPAESRE 
VLQDTVNLLF NHPRQRNASR ENLNLPEPQP ATGQPRSRPL KVAGSPTGRL AGDQGSEEAP 
QRPPASSATL RRQRHLNGKV SPEKESGPRQ ILRSLVRLSV AAFAERNPVE ELTVDSPPVQ 
QISQLLSLLH QGQFQPKPNH RGNKYLAKPG GSRSAIPDTD GPSARAGGQT DPEQEEGPLD 
PEEDLSVKQL LEEELSSLLD PSTGLALDRL SAPDPAWMAR LSLPLTTNYR DNVISPDAAA 
TEEPRTFQTF GKAEAPELSP TGTRLASTFV SEMSSLLEML LEQRSSMPVE AASEALRRLS 
VCGRTLSLDL ATSAASGMKV QGDPGGKTGT EGKSRGSSSS SRCL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.