PCDHB8 (protocadherin beta 8) - Rat Genome Database

Name: PCDHB8
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: PCDHB8 (protocadherin beta 8) Homo sapiens

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Symbol:

PCDHB8

Name:

protocadherin beta 8

RGD ID:

1349292

HGNC Page

HGNC:8693

Description:

Predicted to enable calcium ion binding activity and identical protein binding activity. Predicted to be involved in cell adhesion. Predicted to be located in photoreceptor connecting cilium; photoreceptor disc membrane; and postsynaptic membrane. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

PCDH-beta-8; PCDH-BETA8; PCDH3I; protocadherin beta-8; protocadherin-3i

RGD Orthologs

Mouse

Bonobo

Green Monkey

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	141,177,790 - 141,180,539 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,177,790 - 141,182,369 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,557,371 - 140,560,120 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,537,614 - 140,540,205 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,537,613 - 140,540,205	NCBI
Celera	5	136,634,257 - 136,636,848 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	135,702,415 - 135,705,125 (+)	NCBI		HuRef
CHM1_1	5	139,990,562 - 139,993,272 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	141,703,111 - 141,705,860 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autosomal dominant intellectual developmental disorder 31 (IAGP)

familial adenomatous polyposis 1 (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

melanoma (EXP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

cyclosporin A (EXP)

ethanol (ISO)

lead(0) (EXP)

lipopolysaccharide (EXP)

potassium dichromate (ISO)

propanal (EXP)

S-(1,2-dichlorovinyl)-L-cysteine (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cell adhesion (IBA,IEA)

homophilic cell adhesion via plasma membrane adhesion molecules (IEA)

nervous system development (IEA)

Cellular Component

membrane (IEA)

photoreceptor connecting cilium (ISO)

photoreceptor disc membrane (ISO)

plasma membrane (IBA,IEA)

postsynaptic membrane (ISO)

synapse (ISO)

Molecular Function

calcium ion binding (IEA,ISS)

identical protein binding (ISS)

metal ion binding (IEA)

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:16344560	PMID:17110338	PMID:21873635	PMID:22082156	PMID:33961781
PMID:38334954

Genomics

Comparative Map Data

PCDHB8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	141,177,790 - 141,180,539 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,177,790 - 141,182,369 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,557,371 - 140,560,120 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,537,614 - 140,540,205 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,537,613 - 140,540,205	NCBI
Celera	5	136,634,257 - 136,636,848 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	135,702,415 - 135,705,125 (+)	NCBI		HuRef
CHM1_1	5	139,990,562 - 139,993,272 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	141,703,111 - 141,705,860 (+)	NCBI		T2T-CHM13v2.0

Pcdhb16
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	37,610,821 - 37,616,091 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	37,610,867 - 37,616,091 (+)	Ensembl		GRCm39 Ensembl
GRCm38	18	37,477,768 - 37,483,038 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	37,477,814 - 37,483,038 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	37,637,422 - 37,642,692 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	37,603,814 - 37,608,758 (+)	NCBI		MGSCv36	mm8
Celera	18	38,829,063 - 38,834,342 (+)	NCBI		Celera
Cytogenetic Map	18	B3	NCBI
cM Map	18	19.5	NCBI

PCDHB8
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	4	136,432,071 - 136,438,597 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	134,573,675 - 134,576,453 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	136,538,882 - 136,543,805 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	142,654,750 - 142,657,961 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	5	142,654,990 - 142,657,395 (+)	Ensembl	panpan1.1		panPan2

PCDHB8
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	23	43,812,288 - 43,815,257 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666034	34,047,993 - 34,052,398 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in PCDHB8
81 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 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_019120.4(PCDHB8):c.538C>T (p.Arg180Trp)	single nucleotide variant	Malignant melanoma [RCV000066714]	Chr5:141178572 [GRCh38] Chr5:140558153 [GRCh37] Chr5:140538337 [NCBI36] Chr5:5q31.3	not provided
NM_019120.4(PCDHB8):c.931G>A (p.Glu311Lys)	single nucleotide variant	Malignant melanoma [RCV000066715]	Chr5:141178965 [GRCh38] Chr5:140558546 [GRCh37] Chr5:140538730 [NCBI36] Chr5:5q31.3	not provided
NM_019120.4(PCDHB8):c.1848C>T (p.Phe616=)	single nucleotide variant	Malignant melanoma [RCV000066716]	Chr5:141179882 [GRCh38] Chr5:140559463 [GRCh37] Chr5:140539647 [NCBI36] Chr5:5q31.3	not provided
NM_019120.4(PCDHB8):c.2127C>T (p.Phe709=)	single nucleotide variant	Malignant melanoma [RCV000066717]	Chr5:141180161 [GRCh38] Chr5:140559742 [GRCh37] Chr5:140539926 [NCBI36] Chr5:5q31.3	not provided
NM_019120.4(PCDHB8):c.385G>A (p.Asp129Asn)	single nucleotide variant	Malignant melanoma [RCV000061149]	Chr5:141178419 [GRCh38] Chr5:140558000 [GRCh37] Chr5:140538184 [NCBI36] Chr5:5q31.3	not provided
NM_018940.3(PCDHB7):c.1287C>T (p.Pro429=)	single nucleotide variant	Malignant melanoma [RCV000061148]	Chr5:141174122 [GRCh38] Chr5:140553703 [GRCh37] Chr5:140533887 [NCBI36] Chr5:5q31.3	not provided
NM_018940.3(PCDHB7):c.1192G>A (p.Glu398Lys)	single nucleotide variant	Malignant melanoma [RCV000066712]	Chr5:141174027 [GRCh38] Chr5:140553608 [GRCh37] Chr5:140533792 [NCBI36] Chr5:5q31.3	not provided
NM_018940.3(PCDHB7):c.1286C>T (p.Pro429Leu)	single nucleotide variant	Malignant melanoma [RCV000066713]	Chr5:141174121 [GRCh38] Chr5:140553702 [GRCh37] Chr5:140533886 [NCBI36] Chr5:5q31.3	not provided
NM_020957.3(PCDHB16):c.2014C>T (p.Pro672Ser)	single nucleotide variant	Malignant melanoma [RCV000066718]	Chr5:141184573 [GRCh38] Chr5:140564148 [GRCh37] Chr5:140544332 [NCBI36] Chr5:5q31.3	not provided
NM_020957.3(PCDHB16):c.2015C>T (p.Pro672Leu)	single nucleotide variant	Malignant melanoma [RCV000066719]	Chr5:141184574 [GRCh38] Chr5:140564149 [GRCh37] Chr5:140544333 [NCBI36] Chr5:5q31.3	not provided
NM_019120.4(PCDHB8):c.713A>G (p.Asp238Gly)	single nucleotide variant	Malignant melanoma [RCV000061150]	Chr5:141178747 [GRCh38] Chr5:140558328 [GRCh37] Chr5:140538512 [NCBI36] Chr5:5q31.3	not provided
NM_018940.3(PCDHB7):c.279G>A (p.Glu93=)	single nucleotide variant	Malignant melanoma [RCV000066711]	Chr5:141173114 [GRCh38] Chr5:140552695 [GRCh37] Chr5:140532879 [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
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(chr5:140559899-140580412)x1	copy number loss	See cases [RCV000449410]	Chr5:140559899..140580412 [GRCh37] Chr5:5q31.3	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
NC_000005.9:g.(?_86400000)_(154000000_?)del	deletion	Familial adenomatous polyposis 1 [RCV004561496]\|Hereditary cancer-predisposing syndrome [RCV000554476]	Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2	pathogenic
NM_019120.5(PCDHB8):c.631T>G (p.Leu211Val)	single nucleotide variant	not specified [RCV004299044]	Chr5:141178665 [GRCh38] Chr5:140558246 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2230G>T (p.Gly744Trp)	single nucleotide variant	not specified [RCV004307988]	Chr5:141180264 [GRCh38] Chr5:140559845 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2367C>G (p.Asn789Lys)	single nucleotide variant	not specified [RCV004302380]	Chr5:141180401 [GRCh38] Chr5:140559982 [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(chr5:140552558-140558865)x3	copy number gain	not provided [RCV000745224]	Chr5:140552558..140558865 [GRCh37] Chr5:5q31.3	benign
GRCh37/hg19 5q31.3(chr5:140553581-140558865)x3	copy number gain	not provided [RCV000745225]	Chr5:140553581..140558865 [GRCh37] Chr5:5q31.3	benign
GRCh37/hg19 5q31.3(chr5:140554808-140558865)x3	copy number gain	not provided [RCV000745226]	Chr5:140554808..140558865 [GRCh37] Chr5:5q31.3	benign
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
NM_019120.5(PCDHB8):c.1917G>C (p.Gln639His)	single nucleotide variant	not provided [RCV000946881]	Chr5:141179951 [GRCh38] Chr5:140559532 [GRCh37] Chr5:5q31.3	benign
NM_019120.5(PCDHB8):c.164T>C (p.Leu55Pro)	single nucleotide variant	not provided [RCV000949504]	Chr5:141178198 [GRCh38] Chr5:140557779 [GRCh37] Chr5:5q31.3	benign
NM_019120.5(PCDHB8):c.1488T>C (p.Asp496=)	single nucleotide variant	not provided [RCV000946879]	Chr5:141179522 [GRCh38] Chr5:140559103 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1735C>T (p.Arg579Trp)	single nucleotide variant	not provided [RCV000946880]	Chr5:141179769 [GRCh38] Chr5:140559350 [GRCh37] Chr5:5q31.3	benign
NM_019120.5(PCDHB8):c.2299C>T (p.Leu767Phe)	single nucleotide variant	not provided [RCV000948177]	Chr5:141180333 [GRCh38] Chr5:140559914 [GRCh37] Chr5:5q31.3	benign
NM_019120.5(PCDHB8):c.1443G>A (p.Ser481=)	single nucleotide variant	not provided [RCV000946878]	Chr5:141179477 [GRCh38] Chr5:140559058 [GRCh37] Chr5:5q31.3	likely benign
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
NM_019120.5(PCDHB8):c.1995C>G (p.Asp665Glu)	single nucleotide variant	not specified [RCV004286071]	Chr5:141180029 [GRCh38] Chr5:140559610 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2276G>T (p.Gly759Val)	single nucleotide variant	not provided [RCV000962127]	Chr5:141180310 [GRCh38] Chr5:140559891 [GRCh37] Chr5:5q31.3	benign
NM_019120.5(PCDHB8):c.1845G>A (p.Leu615=)	single nucleotide variant	not provided [RCV000948710]	Chr5:141179879 [GRCh38] Chr5:140559460 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1705G>A (p.Gly569Ser)	single nucleotide variant	not provided [RCV001673864]	Chr5:141179739 [GRCh38] Chr5:140559320 [GRCh37] Chr5:5q31.3	benign
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_019120.5(PCDHB8):c.2064C>G (p.Thr688=)	single nucleotide variant	not provided [RCV001609078]	Chr5:141180098 [GRCh38] Chr5:140559679 [GRCh37] Chr5:5q31.3	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
GRCh37/hg19 5q31.3(chr5:140082762-140773954)x3	copy number gain	not provided [RCV002474614]	Chr5:140082762..140773954 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1712C>T (p.Ala571Val)	single nucleotide variant	not specified [RCV004234848]	Chr5:141179746 [GRCh38] Chr5:140559327 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2080G>A (p.Ala694Thr)	single nucleotide variant	not specified [RCV004079426]	Chr5:141180114 [GRCh38] Chr5:140559695 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2044G>A (p.Gly682Ser)	single nucleotide variant	not specified [RCV004075916]	Chr5:141180078 [GRCh38] Chr5:140559659 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2106C>G (p.Phe702Leu)	single nucleotide variant	not specified [RCV004236003]	Chr5:141180140 [GRCh38] Chr5:140559721 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2174G>T (p.Arg725Leu)	single nucleotide variant	not specified [RCV004087132]	Chr5:141180208 [GRCh38] Chr5:140559789 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.904A>G (p.Ile302Val)	single nucleotide variant	not specified [RCV004119734]	Chr5:141178938 [GRCh38] Chr5:140558519 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.364C>G (p.Leu122Val)	single nucleotide variant	not specified [RCV004086231]	Chr5:141178398 [GRCh38] Chr5:140557979 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.417G>T (p.Met139Ile)	single nucleotide variant	not specified [RCV004086232]	Chr5:141178451 [GRCh38] Chr5:140558032 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1425C>A (p.Ser475Arg)	single nucleotide variant	not specified [RCV004201677]	Chr5:141179459 [GRCh38] Chr5:140559040 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.123G>C (p.Glu41Asp)	single nucleotide variant	not specified [RCV004131346]	Chr5:141178157 [GRCh38] Chr5:140557738 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1441T>G (p.Ser481Ala)	single nucleotide variant	not specified [RCV004104392]	Chr5:141179475 [GRCh38] Chr5:140559056 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.2027A>G (p.Glu676Gly)	single nucleotide variant	not specified [RCV004105624]	Chr5:141180061 [GRCh38] Chr5:140559642 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1049T>A (p.Met350Lys)	single nucleotide variant	not specified [RCV004213679]	Chr5:141179083 [GRCh38] Chr5:140558664 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1424G>A (p.Ser475Asn)	single nucleotide variant	not specified [RCV004158046]	Chr5:141179458 [GRCh38] Chr5:140559039 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1603T>G (p.Ser535Ala)	single nucleotide variant	not specified [RCV004170478]	Chr5:141179637 [GRCh38] Chr5:140559218 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1973C>T (p.Thr658Met)	single nucleotide variant	not specified [RCV004133858]	Chr5:141180007 [GRCh38] Chr5:140559588 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1478C>G (p.Pro493Arg)	single nucleotide variant	not specified [RCV004148564]	Chr5:141179512 [GRCh38] Chr5:140559093 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2047C>G (p.Gln683Glu)	single nucleotide variant	not specified [RCV004152329]	Chr5:141180081 [GRCh38] Chr5:140559662 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2164T>C (p.Ser722Pro)	single nucleotide variant	not specified [RCV004198806]	Chr5:141180198 [GRCh38] Chr5:140559779 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.455C>A (p.Ala152Glu)	single nucleotide variant	not specified [RCV004135352]	Chr5:141178489 [GRCh38] Chr5:140558070 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1150T>C (p.Cys384Arg)	single nucleotide variant	not specified [RCV004149775]	Chr5:141179184 [GRCh38] Chr5:140558765 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2203G>A (p.Gly735Arg)	single nucleotide variant	not specified [RCV004089074]	Chr5:141180237 [GRCh38] Chr5:140559818 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1453G>A (p.Ala485Thr)	single nucleotide variant	not specified [RCV004109641]	Chr5:141179487 [GRCh38] Chr5:140559068 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2153G>A (p.Ser718Asn)	single nucleotide variant	not specified [RCV004214154]	Chr5:141180187 [GRCh38] Chr5:140559768 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1900C>G (p.Arg634Gly)	single nucleotide variant	not specified [RCV004180863]	Chr5:141179934 [GRCh38] Chr5:140559515 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1996G>C (p.Gly666Arg)	single nucleotide variant	not specified [RCV004081643]	Chr5:141180030 [GRCh38] Chr5:140559611 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2053G>A (p.Asp685Asn)	single nucleotide variant	not specified [RCV004103237]	Chr5:141180087 [GRCh38] Chr5:140559668 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2303T>G (p.Leu768Arg)	single nucleotide variant	not specified [RCV004180177]	Chr5:141180337 [GRCh38] Chr5:140559918 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1082C>A (p.Ala361Glu)	single nucleotide variant	not specified [RCV004180698]	Chr5:141179116 [GRCh38] Chr5:140558697 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1862A>G (p.His621Arg)	single nucleotide variant	not specified [RCV004279013]	Chr5:141179896 [GRCh38] Chr5:140559477 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.776G>C (p.Ser259Thr)	single nucleotide variant	not specified [RCV004263611]	Chr5:141178810 [GRCh38] Chr5:140558391 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.323A>C (p.Gln108Pro)	single nucleotide variant	not specified [RCV004294889]	Chr5:141178357 [GRCh38] Chr5:140557938 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1525A>G (p.Thr509Ala)	single nucleotide variant	not specified [RCV004253596]	Chr5:141179559 [GRCh38] Chr5:140559140 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.325G>A (p.Val109Met)	single nucleotide variant	not specified [RCV004351778]	Chr5:141178359 [GRCh38] Chr5:140557940 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2312T>A (p.Val771Glu)	single nucleotide variant	not specified [RCV004348360]	Chr5:141180346 [GRCh38] Chr5:140559927 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.749T>C (p.Val250Ala)	single nucleotide variant	not specified [RCV004345665]	Chr5:141178783 [GRCh38] Chr5:140558364 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2192G>A (p.Gly731Asp)	single nucleotide variant	not specified [RCV004348993]	Chr5:141180226 [GRCh38] Chr5:140559807 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.705T>C (p.Asp235=)	single nucleotide variant	not provided [RCV003429828]	Chr5:141178739 [GRCh38] Chr5:140558320 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1921C>T (p.Leu641=)	single nucleotide variant	not provided [RCV003429830]	Chr5:141179955 [GRCh38] Chr5:140559536 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.256T>C (p.Leu86=)	single nucleotide variant	not provided [RCV003429826]	Chr5:141178290 [GRCh38] Chr5:140557871 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1728G>A (p.Leu576=)	single nucleotide variant	not provided [RCV003429829]	Chr5:141179762 [GRCh38] Chr5:140559343 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.558C>T (p.Arg186=)	single nucleotide variant	not provided [RCV003429827]	Chr5:141178592 [GRCh38] Chr5:140558173 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.2091G>A (p.Ser697=)	single nucleotide variant	not provided [RCV003428635]	Chr5:141180125 [GRCh38] Chr5:140559706 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.2349A>T (p.Glu783Asp)	single nucleotide variant	not specified [RCV004498170]	Chr5:141180383 [GRCh38] Chr5:140559964 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.454G>A (p.Ala152Thr)	single nucleotide variant	not specified [RCV004498173]	Chr5:141178488 [GRCh38] Chr5:140558069 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1138G>A (p.Gly380Arg)	single nucleotide variant	not specified [RCV004498160]	Chr5:141179172 [GRCh38] Chr5:140558753 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1162G>A (p.Glu388Lys)	single nucleotide variant	not specified [RCV004498161]	Chr5:141179196 [GRCh38] Chr5:140558777 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1301C>G (p.Thr434Arg)	single nucleotide variant	not specified [RCV004498163]	Chr5:141179335 [GRCh38] Chr5:140558916 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1240A>T (p.Ser414Cys)	single nucleotide variant	not specified [RCV004498162]	Chr5:141179274 [GRCh38] Chr5:140558855 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1501C>G (p.Leu501Val)	single nucleotide variant	not specified [RCV004498166]	Chr5:141179535 [GRCh38] Chr5:140559116 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.861T>G (p.Asp287Glu)	single nucleotide variant	not specified [RCV004498175]	Chr5:141178895 [GRCh38] Chr5:140558476 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1315A>G (p.Thr439Ala)	single nucleotide variant	not specified [RCV004498164]	Chr5:141179349 [GRCh38] Chr5:140558930 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.753G>T (p.Gln251His)	single nucleotide variant	not specified [RCV004498174]	Chr5:141178787 [GRCh38] Chr5:140558368 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1879A>G (p.Thr627Ala)	single nucleotide variant	not specified [RCV004659460]	Chr5:141179913 [GRCh38] Chr5:140559494 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.766A>G (p.Ser256Gly)	single nucleotide variant	not specified [RCV004659462]	Chr5:141178800 [GRCh38] Chr5:140558381 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.886G>A (p.Asp296Asn)	single nucleotide variant	not specified [RCV004498176]	Chr5:141178920 [GRCh38] Chr5:140558501 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1706G>A (p.Gly569Asp)	single nucleotide variant	not specified [RCV004498167]	Chr5:141179740 [GRCh38] Chr5:140559321 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1075G>A (p.Glu359Lys)	single nucleotide variant	not specified [RCV004498159]	Chr5:141179109 [GRCh38] Chr5:140558690 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1452C>G (p.Asn484Lys)	single nucleotide variant	not specified [RCV004498165]	Chr5:141179486 [GRCh38] Chr5:140559067 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2045G>C (p.Gly682Ala)	single nucleotide variant	not specified [RCV004498168]	Chr5:141180079 [GRCh38] Chr5:140559660 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.2114C>T (p.Ser705Leu)	single nucleotide variant	not specified [RCV004498169]	Chr5:141180148 [GRCh38] Chr5:140559729 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.427G>A (p.Val143Ile)	single nucleotide variant	not specified [RCV004498171]	Chr5:141178461 [GRCh38] Chr5:140558042 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1413C>G (p.Ile471Met)	single nucleotide variant	not specified [RCV004659458]	Chr5:141179447 [GRCh38] Chr5:140559028 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1523A>G (p.Asn508Ser)	single nucleotide variant	not specified [RCV004653226]	Chr5:141179557 [GRCh38] Chr5:140559138 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1872G>T (p.Glu624Asp)	single nucleotide variant	not specified [RCV004653227]	Chr5:141179906 [GRCh38] Chr5:140559487 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.1358C>T (p.Thr453Ile)	single nucleotide variant	not specified [RCV004659457]	Chr5:141179392 [GRCh38] Chr5:140558973 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2215G>C (p.Asp739His)	single nucleotide variant	not specified [RCV004653223]	Chr5:141180249 [GRCh38] Chr5:140559830 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.149C>G (p.Ala50Gly)	single nucleotide variant	not specified [RCV004653224]	Chr5:141178183 [GRCh38] Chr5:140557764 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2063C>T (p.Thr688Ile)	single nucleotide variant	not specified [RCV004653225]	Chr5:141180097 [GRCh38] Chr5:140559678 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2378G>A (p.Gly793Asp)	single nucleotide variant	not specified [RCV004653228]	Chr5:141180412 [GRCh38] Chr5:140559993 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1324G>T (p.Val442Leu)	single nucleotide variant	not specified [RCV004653229]	Chr5:141179358 [GRCh38] Chr5:140558939 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.826G>A (p.Gly276Arg)	single nucleotide variant	not specified [RCV004653230]	Chr5:141178860 [GRCh38] Chr5:140558441 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.106G>C (p.Val36Leu)	single nucleotide variant	not specified [RCV004653231]	Chr5:141178140 [GRCh38] Chr5:140557721 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.144T>C (p.Asn48=)	single nucleotide variant	not specified [RCV004659459]	Chr5:141178178 [GRCh38] Chr5:140557759 [GRCh37] Chr5:5q31.3	likely benign
NM_019120.5(PCDHB8):c.1238A>G (p.Glu413Gly)	single nucleotide variant	not specified [RCV004659461]	Chr5:141179272 [GRCh38] Chr5:140558853 [GRCh37] Chr5:5q31.3	uncertain significance
NM_019120.5(PCDHB8):c.2282G>T (p.Gly761Val)	single nucleotide variant	not specified [RCV004365861]	Chr5:141180316 [GRCh38] Chr5:140559897 [GRCh37] Chr5:5q31.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	20
Count of miRNA genes:	20
Interacting mature miRNAs:	20
Transcripts:	ENST00000239444
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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357314	AASTH54_H	Allergic/atopic asthma related QTL 54 (human)	3.56	0.0003	Reversible airflow obstruction	total serum IgE	5	135892246	150155845	Human

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1203	2345	2733	2224	4896	1584	2192	3	499	653	341	2233	5749	5163	49	3702	821	1704	1585	167

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_000017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_019120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC074130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC244517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF152501	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF282973	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU119840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471062	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000239444 ⟹ ENSP00000239444

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,177,790 - 141,180,539 (+)	Ensembl

Ensembl Acc Id:

ENST00000623995

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,177,849 - 141,182,369 (+)	Ensembl

RefSeq Acc Id:

NM_019120 ⟹ NP_061993

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,177,790 - 141,180,539 (+)	NCBI
GRCh37	5	140,557,371 - 140,560,081 (+)	ENTREZGENE
Build 36	5	140,537,614 - 140,540,205 (+)	NCBI Archive
Celera	5	136,634,257 - 136,636,848 (+)	RGD
HuRef	5	135,702,415 - 135,705,125 (+)	ENTREZGENE
CHM1_1	5	139,990,562 - 139,993,272 (+)	NCBI
T2T-CHM13v2.0	5	141,703,111 - 141,705,860 (+)	NCBI

Sequence:

show sequence

TGGCGCTGCAGGATAAGAAGGCACAAACCAGAACCGCAGCTGCAGCTCCATTAACCGGCAAAAA
GCAGCAGAACCTGGAAGTCCACGGGGAGCTTGGATGCCAAAGGGAGGACGGCTGGGTCCTCTGG
AGAGGACTACTCACTGGCATATTTCTGAGGTATCTGTAGAAAACCACAGCCTCAGATACTGGGG
ACTTTACAGTCCCACAGAACCGTCCTCCCAGGAAGCTGAATTCAGCAAGAACAATGGAGGCCAG
CGGGAAGCTCATTTGCAGACAAAGGCAAGTCCTTTTTTCCTTTCTCCTTTTGGGCTTATCTCTG
GCGGGCGCGGCGGAACCTAGAAGCTATTCTGTGGTGGAGGAAACTGAGGGCAGCTCCTTTGTCA
CCAATTTAGCAAAGGACCTGGGTCTGGAGCAGAGGGAATTCTCCAGGCGGGGGGTTAGGGTTGT
TTCCAGAGGGAACAAACTACATTTGCAGCTCAATCAGGAGACCGCGGATTTGTTGCTAAATGAG
AAATTGGACCGTGAGGATCTGTGCGGTCACACAGAGCCCTGTGTGCTACGTTTCCAAGTGTTGC
TAGAGAGTCCCTTCGAGTTTTTTCAAGCTGAGCTGCAAGTAATAGACATAAACGACCACTCTCC
AGTATTTCTGGACAAACAAATGTTGGTGAAAGTATCAGAGAGCAGTCCTCCTGGGACTGCGTTT
CCTCTGAAGAATGCTGAAGACTTAGATATAGGCCAAAACAATATTGAGAACTATATAATCAGCC
CCAACTCCTATTTTCGGGTCCTCACCCGCAAACGCAGTGATGGCAGGAAATACCCAGAGCTGGT
GCTGGACAAAGCGCTGGACCGAGAGGAAGAAGCTGAGCTCAGGTTAACACTCACAGCACTGGAT
GGTGGCTCTCCGCCCAGATCTGGCACTGCTCAGGTCTACATTGAAGTTGTCGATGTCAATGATA
ATGCCCCTGAATTTGAGCAGCCTTTCTATAGGGTGCAGATCTCTGAGGACAGTCCAATAAGCTT
CCTGGTTGTGAAGGTCTCTGCCACGGATGTAGACACAGGAGTCAACGGAGAGATTTCCTATTCA
CTTTTCCAAGCTTCAGATGAGATAAGCAAAACTTTTAAGGTCGATTTCTTGACAGGAGAAATTC
GACTAAAGAAACAACTTGATTTCGAAAAATTTCAGTCCTATGAAGTCAATATCGAGGCGAGAGA
TGCTGGAGGCTTTTCTGGAAAATGCACCGTTCTGATTCAAGTGATAGATGTGAACGACCATGCC
CCAGAAGTTACCATGTCTGCATTTACCAGCCCAATACCTGAGAATGCGCCTGAAACTGTGGTTG
CACTTTTCAGTGTTTCAGACCTTGATTCAGGAGAAAATGGGAAAATAAGTTGCTCCATTCAGGA
GGATCTACCCTTCCTCCTGAAATCTTCTGTGGGGAACTTTTACACCCTACTAACAGAGACACCA
CTAGACAGAGAAAGCAGAGCCGAGTACAACGTCACTATCACCGTCACTGACTTAGGGACACCCA
GGCTGACAACACATCTCAATATGACCGTGCTGGTGTCGGACGTCAATGACAACGCCCCCGCCTT
CACCCAAACCTCCTACACCCTGTTCGTCCGCGAGAACAACAGCCCCGCCCTGCACATCGGCAGC
GTCAGCGCCACAGACAGAGACTCGGGCACCAACGCCCAGGTCACCTACTCGCTGCTGCCGCCCC
AGGATCCGCACCTGCCCCTCGCCTCCCTGGTCTCCATCAACACAGACAACGGCCACCTGTTCGC
CCTCAGGTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGGGTGGGCGCTTCAGACCGC
GGCTCCCCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACGCCAACGACAACT
CGCCCTTCGTGCTGTACCCGCTGCAGAATGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGC
GGCCGAGCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACGGCGACTCGGGCCAGAACGCC
TGGCTGTCGTACCAGCTGCTCAAGGCCACGGAGCCCGGGCTGTTCGGTGTGTGGGCGCACAATG
GCGAGGTGCGCACCGCCAGGCTGCTGAGCGAGCGCGACGCGGCCAAGCAGAGGCTGGTGGTGCT
GGTCAAGGACAATGGCGAGCCTCCGTGCTCGGCCACCGCCACGCTGCACGTGCTCCTGGTGGAC
GGCTTCTCCCAGCCCTACCTGCCGCTTCCGGAGGCTGCCCCAGCCCAGGGCCAGGCCGACTCTC
TCACCGTCTACCTGGTGGTGGCGTTGGCCTCGGTGTCTTCGCTCTTCCTCTTCTCGGTGCTCCT
GTTCGTGGCGGTGCTGCTGTGTAGGAGGAGCAGGGCGGCCTCGGTGGGTCGCTGCTCAGTGCCT
GAGGGCCCCTTTCCAGGGCATCTGGTGGACGTGAGGGGCACCGGGAGCCTGTCTCAGAACTATC
AGTACGAGGTGTGCCTGGCAGGAGGCTCAGGGACGAATGAGTTCCAGCTCCTGAAACCAGTATT
ACCTAATATTCAGGGCCATTCTTTTGGGCCAGAAATGGAACAAAACTCTAACTTTAGGAATGGC
TTTGGTTTCAGCCTTCAGTTAAAGTAATTGATTTCATATTATATATTTTAATTTTTATGATCAA
TTCAAAGGAATGGTTTTCTGTCAACTTAGCATAAATTTTAAATTACACTACATTTGCCCATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_061993	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD43762	(Get FASTA)	NCBI Sequence Viewer
	AAG10031	(Get FASTA)	NCBI Sequence Viewer
	AAI36802	(Get FASTA)	NCBI Sequence Viewer
	EAW61976	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000239444
	ENSP00000239444.2
	ENSP00000517192.1
GenBank Protein	Q9UN66	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_061993 ⟸ NM_019120
- Peptide Label:	precursor
- UniProtKB:	B9EGV1 (UniProtKB/Swiss-Prot), Q9UN66 (UniProtKB/Swiss-Prot), B4DJM8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MEASGKLICRQRQVLFSFLLLGLSLAGAAEPRSYSVVEETEGSSFVTNLAKDLGLEQREFSRRG VRVVSRGNKLHLQLNQETADLLLNEKLDREDLCGHTEPCVLRFQVLLESPFEFFQAELQVIDIN DHSPVFLDKQMLVKVSESSPPGTAFPLKNAEDLDIGQNNIENYIISPNSYFRVLTRKRSDGRKY PELVLDKALDREEEAELRLTLTALDGGSPPRSGTAQVYIEVVDVNDNAPEFEQPFYRVQISEDS PISFLVVKVSATDVDTGVNGEISYSLFQASDEISKTFKVDFLTGEIRLKKQLDFEKFQSYEVNI EARDAGGFSGKCTVLIQVIDVNDHAPEVTMSAFTSPIPENAPETVVALFSVSDLDSGENGKISC SIQEDLPFLLKSSVGNFYTLLTETPLDRESRAEYNVTITVTDLGTPRLTTHLNMTVLVSDVNDN APAFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPLASLVSINTDNG HLFALRSLDYEALQAFEFRVGASDRGSPALSSEALVRVLVLDANDNSPFVLYPLQNGSAPCTEL VPRAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKQR LVVLVKDNGEPPCSATATLHVLLVDGFSQPYLPLPEAAPAQGQADSLTVYLVVALASVSSLFLF SVLLFVAVLLCRRSRAASVGRCSVPEGPFPGHLVDVRGTGSLSQNYQYEVCLAGGSGTNEFQLL KPVLPNIQGHSFGPEMEQNSNFRNGFGFSLQLK hide sequence

Ensembl Acc Id:

ENSP00000239444 ⟸ ENST00000239444

Protein Domains

Cadherin

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9UN66-F1-model_v2	AlphaFold	Q9UN66	1-801	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:8693	AgrOrtholog
COSMIC	PCDHB8	COSMIC
Ensembl Genes	ENSG00000120322	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000291682	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000239444	ENTREZGENE
	ENST00000239444.4	UniProtKB/Swiss-Prot
	ENST00000708365.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Cadherins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000120322	GTEx
	ENSG00000291682	GTEx
HGNC ID	HGNC:8693	ENTREZGENE
Human Proteome Map	PCDHB8	Human Proteome Map
InterPro	Cadherin-like_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cadherin-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cadherin_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cadherin_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cadherin_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Protocadherin/Cadherin-CA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:56128	UniProtKB/Swiss-Prot
NCBI Gene	56128	ENTREZGENE
OMIM	606334	OMIM
PANTHER	CADHERIN-87A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTOCADHERIN BETA-13	UniProtKB/TrEMBL
	PROTOCADHERIN BETA-8	UniProtKB/Swiss-Prot
Pfam	Cadherin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cadherin_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Cadherin_C_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA33042	PharmGKB
PRINTS	CADHERIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	CADHERIN_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	CADHERIN_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	SM00112	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Cadherin-like	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt	B4DJM8	ENTREZGENE, UniProtKB/TrEMBL
	B9EGV1	ENTREZGENE
	PCDB8_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	B9EGV1	UniProtKB/Swiss-Prot

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD