PCDHB12 (protocadherin beta 12) - Rat Genome Database

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Gene: PCDHB12 (protocadherin beta 12) Homo sapiens
Analyze
Symbol: PCDHB12
Name: protocadherin beta 12
RGD ID: 1350553
HGNC Page HGNC:8683
Description: Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: PCDH-beta-12; PCDH-BETA12; protocadherin beta-12
RGD Orthologs
Mouse
Rat
Bonobo
Green Monkey
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,208,719 - 141,212,571 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,208,697 - 141,212,571 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,588,291 - 140,592,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,568,475 - 140,571,882 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,568,474 - 140,571,880NCBI
Celera5136,665,115 - 136,668,522 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,733,348 - 135,736,755 (+)NCBIHuRef
CHM1_15140,021,491 - 140,024,898 (+)NCBICHM1_1
T2T-CHM13v2.05141,734,032 - 141,737,884 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
membrane  (IEA)
plasma membrane  (IEA,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10380929   PMID:10716726   PMID:10817752   PMID:10835267   PMID:11230163   PMID:11322959   PMID:12477932   PMID:15489334   PMID:21873635   PMID:28514442   PMID:29507755   PMID:29676528  
PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
PCDHB12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385141,208,719 - 141,212,571 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5141,208,697 - 141,212,571 (+)EnsemblGRCh38hg38GRCh38
GRCh375140,588,291 - 140,592,143 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365140,568,475 - 140,571,882 (+)NCBINCBI36Build 36hg18NCBI36
Build 345140,568,474 - 140,571,880NCBI
Celera5136,665,115 - 136,668,522 (+)NCBICelera
Cytogenetic Map5q31.3NCBI
HuRef5135,733,348 - 135,736,755 (+)NCBIHuRef
CHM1_15140,021,491 - 140,024,898 (+)NCBICHM1_1
T2T-CHM13v2.05141,734,032 - 141,737,884 (+)NCBIT2T-CHM13v2.0
Pcdhb19
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391837,630,049 - 37,637,181 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1837,630,044 - 37,637,181 (+)EnsemblGRCm39 Ensembl
GRCm381837,496,998 - 37,501,711 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1837,496,991 - 37,504,128 (+)EnsemblGRCm38mm10GRCm38
MGSCv371837,656,652 - 37,661,365 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361837,623,128 - 37,625,807 (+)NCBIMGSCv36mm8
Celera1838,848,303 - 38,853,022 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1819.51NCBI
Pcdhb19
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81829,478,848 - 29,481,656 (+)NCBIGRCr8
mRatBN7.21829,204,838 - 29,207,646 (+)NCBImRatBN7.2mRatBN7.2
Rnor_6.01830,572,110 - 30,577,286 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1830,574,627 - 30,577,035 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01830,279,461 - 30,284,481 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41830,309,219 - 30,311,871 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1828,898,260 - 28,903,436 (+)NCBICelera
Cytogenetic Map18p11NCBI
LOC100991137
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24136,455,592 - 136,462,696 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15134,595,793 - 134,602,014 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05136,569,617 - 136,575,312 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15142,685,594 - 142,689,421 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5142,685,863 - 142,688,272 (+)Ensemblpanpan1.1panPan2
PCDHB12
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12343,830,417 - 43,835,111 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603434,019,107 - 34,025,536 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PCDHB12
46 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1 copy number loss See cases [RCV000052142] Chr5:138871137..145812309 [GRCh38]
Chr5:138206826..145191872 [GRCh37]
Chr5:138234725..145172065 [NCBI36]
Chr5:5q31.2-32
pathogenic
GRCh38/hg38 5q31.3(chr5:141185055-141211630)x1 copy number loss See cases [RCV000052580] Chr5:141185055..141211630 [GRCh38]
Chr5:140564630..140591202 [GRCh37]
Chr5:140544814..140571386 [NCBI36]
Chr5:5q31.3
uncertain significance
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_018932.3(PCDHB12):c.742G>A (p.Glu248Lys) single nucleotide variant Malignant melanoma [RCV000066724] Chr5:141209649 [GRCh38]
Chr5:140589221 [GRCh37]
Chr5:140569405 [NCBI36]
Chr5:5q31.3
not provided
NM_018932.3(PCDHB12):c.1167C>T (p.Ile389=) single nucleotide variant Malignant melanoma [RCV000066725] Chr5:141210074 [GRCh38]
Chr5:140589646 [GRCh37]
Chr5:140569830 [NCBI36]
Chr5:5q31.3
not provided
NM_018932.4(PCDHB12):c.971G>A (p.Gly324Glu) single nucleotide variant Inborn genetic diseases [RCV003215113] Chr5:141209878 [GRCh38]
Chr5:140589450 [GRCh37]
Chr5:140569634 [NCBI36]
Chr5:5q31.3
uncertain significance|not provided
NM_018932.3(PCDHB12):c.2327C>T (p.Pro776Leu) single nucleotide variant Malignant melanoma [RCV000061157] Chr5:141211234 [GRCh38]
Chr5:140590806 [GRCh37]
Chr5:140570990 [NCBI36]
Chr5:5q31.3
not provided
NM_018933.3(PCDHB13):c.385G>A (p.Asp129Asn) single nucleotide variant Malignant melanoma [RCV000061158] Chr5:141214508 [GRCh38]
Chr5:140594080 [GRCh37]
Chr5:140574264 [NCBI36]
Chr5:5q31.3
not provided
NM_018933.3(PCDHB13):c.1587C>T (p.Phe529=) single nucleotide variant Malignant melanoma [RCV000061159] Chr5:141215710 [GRCh38]
Chr5:140595282 [GRCh37]
Chr5:140575466 [NCBI36]
Chr5:5q31.3
not provided
NM_018933.3(PCDHB13):c.2344G>A (p.Glu782Lys) single nucleotide variant Malignant melanoma [RCV000066726] Chr5:141216467 [GRCh38]
Chr5:140596039 [GRCh37]
Chr5:140576223 [NCBI36]
Chr5:5q31.3
not provided
GRCh38/hg38 5q31.3(chr5:140963199-142322798)x1 copy number loss See cases [RCV000136949] Chr5:140963199..142322798 [GRCh38]
Chr5:140453735..141702363 [GRCh37]
Chr5:140322968..141682547 [NCBI36]
Chr5:5q31.3
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3 copy number gain See cases [RCV000139504] Chr5:141089988..149530678 [GRCh38]
Chr5:140469572..148910241 [GRCh37]
Chr5:140449756..148890434 [NCBI36]
Chr5:5q31.3-32
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:138942857-144605017)x3 copy number gain See cases [RCV000142806] Chr5:138942857..144605017 [GRCh38]
Chr5:138278546..143984580 [GRCh37]
Chr5:138306445..143964773 [NCBI36]
Chr5:5q31.2-31.3
uncertain significance
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5q31.3(chr5:140581626-140593602)x3 copy number gain See cases [RCV000445866] Chr5:140581626..140593602 [GRCh37]
Chr5:5q31.3
benign
GRCh37/hg19 5q31.3(chr5:140581626-140589370)x3 copy number gain See cases [RCV000445906] Chr5:140581626..140589370 [GRCh37]
Chr5:5q31.3
benign|likely benign
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_018932.4(PCDHB12):c.322G>T (p.Val108Leu) single nucleotide variant Inborn genetic diseases [RCV003245908] Chr5:141209229 [GRCh38]
Chr5:140588801 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1 copy number loss not provided [RCV000682600] Chr5:139147238..141540491 [GRCh37]
Chr5:5q31.2-31.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q31.3(chr5:140558308-140594381)x1 copy number loss not provided [RCV000745227] Chr5:140558308..140594381 [GRCh37]
Chr5:5q31.3
benign
GRCh37/hg19 5q31.3(chr5:140559849-140606802)x3 copy number gain not provided [RCV000745228] Chr5:140559849..140606802 [GRCh37]
Chr5:5q31.3
benign
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3 copy number gain not provided [RCV000848228] Chr5:140424333..148985999 [GRCh37]
Chr5:5q31.3-32
uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_018932.4(PCDHB12):c.32T>C (p.Ile11Thr) single nucleotide variant Inborn genetic diseases [RCV003275378] Chr5:141208939 [GRCh38]
Chr5:140588511 [GRCh37]
Chr5:5q31.3
likely benign
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_018932.4(PCDHB12):c.613C>T (p.Arg205Cys) single nucleotide variant Inborn genetic diseases [RCV003300597] Chr5:141209520 [GRCh38]
Chr5:140589092 [GRCh37]
Chr5:5q31.3
uncertain significance
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3 copy number gain not provided [RCV002474614] Chr5:140082762..140773954 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.247G>T (p.Asp83Tyr) single nucleotide variant Inborn genetic diseases [RCV002991198] Chr5:141209154 [GRCh38]
Chr5:140588726 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.833C>G (p.Ser278Cys) single nucleotide variant Inborn genetic diseases [RCV002970583] Chr5:141209740 [GRCh38]
Chr5:140589312 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.2144G>A (p.Arg715Lys) single nucleotide variant Inborn genetic diseases [RCV002969084] Chr5:141211051 [GRCh38]
Chr5:140590623 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.815G>T (p.Gly272Val) single nucleotide variant Inborn genetic diseases [RCV002974075] Chr5:141209722 [GRCh38]
Chr5:140589294 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1591G>A (p.Val531Met) single nucleotide variant Inborn genetic diseases [RCV002906451] Chr5:141210498 [GRCh38]
Chr5:140590070 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1202A>G (p.Tyr401Cys) single nucleotide variant Inborn genetic diseases [RCV002727820] Chr5:141210109 [GRCh38]
Chr5:140589681 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.2006C>A (p.Pro669His) single nucleotide variant Inborn genetic diseases [RCV002883580] Chr5:141210913 [GRCh38]
Chr5:140590485 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1522G>A (p.Ala508Thr) single nucleotide variant Inborn genetic diseases [RCV002992265] Chr5:141210429 [GRCh38]
Chr5:140590001 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.142T>G (p.Leu48Val) single nucleotide variant Inborn genetic diseases [RCV002888359] Chr5:141209049 [GRCh38]
Chr5:140588621 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.823A>G (p.Ser275Gly) single nucleotide variant Inborn genetic diseases [RCV002981155] Chr5:141209730 [GRCh38]
Chr5:140589302 [GRCh37]
Chr5:5q31.3
likely benign
NM_018932.4(PCDHB12):c.829C>A (p.Leu277Ile) single nucleotide variant Inborn genetic diseases [RCV002981156] Chr5:141209736 [GRCh38]
Chr5:140589308 [GRCh37]
Chr5:5q31.3
likely benign
NM_018932.4(PCDHB12):c.2138T>A (p.Leu713Gln) single nucleotide variant Inborn genetic diseases [RCV002823132] Chr5:141211045 [GRCh38]
Chr5:140590617 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.916C>T (p.Pro306Ser) single nucleotide variant Inborn genetic diseases [RCV002977700] Chr5:141209823 [GRCh38]
Chr5:140589395 [GRCh37]
Chr5:5q31.3
likely benign
NM_018932.4(PCDHB12):c.210T>A (p.Asp70Glu) single nucleotide variant Inborn genetic diseases [RCV002758485] Chr5:141209117 [GRCh38]
Chr5:140588689 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.82T>C (p.Ser28Pro) single nucleotide variant Inborn genetic diseases [RCV002888630] Chr5:141208989 [GRCh38]
Chr5:140588561 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.109G>A (p.Glu37Lys) single nucleotide variant Inborn genetic diseases [RCV002823421] Chr5:141209016 [GRCh38]
Chr5:140588588 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1331T>C (p.Val444Ala) single nucleotide variant Inborn genetic diseases [RCV002757921] Chr5:141210238 [GRCh38]
Chr5:140589810 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.537C>A (p.His179Gln) single nucleotide variant Inborn genetic diseases [RCV002987352] Chr5:141209444 [GRCh38]
Chr5:140589016 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1431C>A (p.Asp477Glu) single nucleotide variant Inborn genetic diseases [RCV002768296] Chr5:141210338 [GRCh38]
Chr5:140589910 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.129C>A (p.Ser43Arg) single nucleotide variant Inborn genetic diseases [RCV002743056] Chr5:141209036 [GRCh38]
Chr5:140588608 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1222C>A (p.Pro408Thr) single nucleotide variant Inborn genetic diseases [RCV002892243] Chr5:141210129 [GRCh38]
Chr5:140589701 [GRCh37]
Chr5:5q31.3
likely benign
NM_018932.4(PCDHB12):c.1801T>C (p.Trp601Arg) single nucleotide variant Inborn genetic diseases [RCV002767905] Chr5:141210708 [GRCh38]
Chr5:140590280 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.598C>A (p.Leu200Met) single nucleotide variant Inborn genetic diseases [RCV002930500] Chr5:141209505 [GRCh38]
Chr5:140589077 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.904A>C (p.Thr302Pro) single nucleotide variant Inborn genetic diseases [RCV002956155] Chr5:141209811 [GRCh38]
Chr5:140589383 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.465A>C (p.Glu155Asp) single nucleotide variant Inborn genetic diseases [RCV002807860] Chr5:141209372 [GRCh38]
Chr5:140588944 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1622T>C (p.Leu541Ser) single nucleotide variant Inborn genetic diseases [RCV002935490] Chr5:141210529 [GRCh38]
Chr5:140590101 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.616C>A (p.Pro206Thr) single nucleotide variant Inborn genetic diseases [RCV002898345] Chr5:141209523 [GRCh38]
Chr5:140589095 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1148G>T (p.Cys383Phe) single nucleotide variant Inborn genetic diseases [RCV002961753] Chr5:141210055 [GRCh38]
Chr5:140589627 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.682G>A (p.Val228Ile) single nucleotide variant Inborn genetic diseases [RCV002747184] Chr5:141209589 [GRCh38]
Chr5:140589161 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.2035G>A (p.Ala679Thr) single nucleotide variant Inborn genetic diseases [RCV002989020] Chr5:141210942 [GRCh38]
Chr5:140590514 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1534C>T (p.His512Tyr) single nucleotide variant Inborn genetic diseases [RCV002747847] Chr5:141210441 [GRCh38]
Chr5:140590013 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1410C>G (p.Ile470Met) single nucleotide variant Inborn genetic diseases [RCV002725041] Chr5:141210317 [GRCh38]
Chr5:140589889 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1307A>G (p.Asn436Ser) single nucleotide variant Inborn genetic diseases [RCV002944954] Chr5:141210214 [GRCh38]
Chr5:140589786 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.2285A>G (p.Asn762Ser) single nucleotide variant Inborn genetic diseases [RCV003217561] Chr5:141211192 [GRCh38]
Chr5:140590764 [GRCh37]
Chr5:5q31.3
likely benign
NM_018932.4(PCDHB12):c.69G>A (p.Met23Ile) single nucleotide variant Inborn genetic diseases [RCV003193790] Chr5:141208976 [GRCh38]
Chr5:140588548 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1985T>C (p.Leu662Pro) single nucleotide variant Inborn genetic diseases [RCV003178191] Chr5:141210892 [GRCh38]
Chr5:140590464 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.974G>A (p.Gly325Glu) single nucleotide variant Inborn genetic diseases [RCV003282427] Chr5:141209881 [GRCh38]
Chr5:140589453 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1913A>G (p.His638Arg) single nucleotide variant Inborn genetic diseases [RCV003284437] Chr5:141210820 [GRCh38]
Chr5:140590392 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1775T>C (p.Val592Ala) single nucleotide variant Inborn genetic diseases [RCV003180033] Chr5:141210682 [GRCh38]
Chr5:140590254 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.2158G>A (p.Ala720Thr) single nucleotide variant Inborn genetic diseases [RCV003358876] Chr5:141211065 [GRCh38]
Chr5:140590637 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1001G>T (p.Arg334Ile) single nucleotide variant Inborn genetic diseases [RCV003376921] Chr5:141209908 [GRCh38]
Chr5:140589480 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1117A>G (p.Arg373Gly) single nucleotide variant Inborn genetic diseases [RCV003374163] Chr5:141210024 [GRCh38]
Chr5:140589596 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1291C>G (p.Leu431Val) single nucleotide variant Inborn genetic diseases [RCV003374341] Chr5:141210198 [GRCh38]
Chr5:140589770 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1238G>C (p.Ser413Thr) single nucleotide variant Inborn genetic diseases [RCV003353562] Chr5:141210145 [GRCh38]
Chr5:140589717 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.844T>C (p.Ser282Pro) single nucleotide variant Inborn genetic diseases [RCV003349381] Chr5:141209751 [GRCh38]
Chr5:140589323 [GRCh37]
Chr5:5q31.3
uncertain significance
NM_018932.4(PCDHB12):c.1086G>A (p.Glu362=) single nucleotide variant not provided [RCV003428641] Chr5:141209993 [GRCh38]
Chr5:140589565 [GRCh37]
Chr5:5q31.3
likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:287
Count of miRNA genes:207
Interacting mature miRNAs:214
Transcripts:ENST00000239450, ENST00000541609
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D5S2424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,587,133 - 140,587,259UniSTSGRCh37
Build 365140,567,317 - 140,567,443RGDNCBI36
Celera5136,663,957 - 136,664,083RGD
Cytogenetic Map5q31UniSTS
HuRef5135,732,190 - 135,732,316UniSTS
Whitehead-RH Map5441.7UniSTS
Whitehead-YAC Contig Map5 UniSTS
NCBI RH Map5889.1UniSTS
RH104024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375140,588,227 - 140,588,387UniSTSGRCh37
Build 365140,568,411 - 140,568,571RGDNCBI36
Celera5136,665,051 - 136,665,211RGD
Cytogenetic Map5q31UniSTS
HuRef5135,733,284 - 135,733,444UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1 2 4 3 14 19 10
Low 1866 1868 1238 220 315 92 3475 1323 2894 291 1314 1510 139 1 1202 2140 3 1
Below cutoff 543 620 463 384 642 353 864 863 826 122 111 74 33 2 648 2

Sequence


RefSeq Acc Id: ENST00000239450   ⟹   ENSP00000239450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,208,719 - 141,212,571 (+)Ensembl
RefSeq Acc Id: ENST00000622978   ⟹   ENSP00000485352
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,208,719 - 141,211,559 (+)Ensembl
RefSeq Acc Id: ENST00000624949   ⟹   ENSP00000485303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5141,208,697 - 141,211,537 (+)Ensembl
RefSeq Acc Id: NM_018932   ⟹   NP_061755
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385141,208,719 - 141,212,571 (+)NCBI
GRCh375140,587,914 - 140,592,143 (+)NCBI
Build 365140,568,475 - 140,571,882 (+)NCBI Archive
Celera5136,665,115 - 136,668,522 (+)RGD
HuRef5135,733,348 - 135,736,755 (+)ENTREZGENE
CHM1_15140,021,491 - 140,024,898 (+)NCBI
T2T-CHM13v2.05141,734,032 - 141,737,884 (+)NCBI
Sequence:
RefSeq Acc Id: NP_061755   ⟸   NM_018932
- Peptide Label: precursor
- UniProtKB: B4DDU1 (UniProtKB/Swiss-Prot),   Q9Y5F1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000485352   ⟸   ENST00000622978
RefSeq Acc Id: ENSP00000485303   ⟸   ENST00000624949
RefSeq Acc Id: ENSP00000239450   ⟸   ENST00000239450
Protein Domains
Cadherin   Cadherin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5F1-F1-model_v2 AlphaFold Q9Y5F1 1-795 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8683 AgrOrtholog
COSMIC PCDHB12 COSMIC
Ensembl Genes ENSG00000120328 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000291691 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000239450 ENTREZGENE
  ENST00000239450.4 UniProtKB/Swiss-Prot
  ENST00000622978.1 UniProtKB/TrEMBL
  ENST00000624949.1 UniProtKB/Swiss-Prot
  ENST00000708380.1 UniProtKB/Swiss-Prot
  ENST00000708382.1 UniProtKB/Swiss-Prot
Gene3D-CATH Cadherins UniProtKB/Swiss-Prot
GTEx ENSG00000120328 GTEx
  ENSG00000291691 GTEx
HGNC ID HGNC:8683 ENTREZGENE
Human Proteome Map PCDHB12 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot
  Cadherin-like_sf UniProtKB/Swiss-Prot
  Cadherin_C UniProtKB/Swiss-Prot
  Cadherin_CS UniProtKB/Swiss-Prot
  Cadherin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56124 UniProtKB/Swiss-Prot
NCBI Gene 56124 ENTREZGENE
OMIM 606338 OMIM
PANTHER CADHERIN-87A UniProtKB/Swiss-Prot
  PROTOCADHERIN BETA-12 UniProtKB/Swiss-Prot
Pfam Cadherin UniProtKB/Swiss-Prot
  Cadherin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C_2 UniProtKB/Swiss-Prot
PharmGKB PA33028 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot
  CADHERIN_2 UniProtKB/Swiss-Prot
SMART SM00112 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot
UniProt A0A096LP27_HUMAN UniProtKB/TrEMBL
  B4DDU1 ENTREZGENE
  PCDBC_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B4DDU1 UniProtKB/Swiss-Prot