PCDHB4 (protocadherin beta 4) - Rat Genome Database

Name: PCDHB4
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: PCDHB4 (protocadherin beta 4) Homo sapiens

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Symbol:

PCDHB4

Name:

protocadherin beta 4

RGD ID:

1312238

HGNC Page

HGNC:8689

Description:

Predicted to enable calcium ion binding activity. Predicted to be involved in cell adhesion. Predicted to be located in membrane and synapse. Predicted to be active in plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

PCDH-beta-4; PCDH-BETA4; protocadherin beta-4

RGD Orthologs

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	141,121,818 - 141,125,623 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,121,818 - 141,125,623 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,501,400 - 140,505,205 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,481,765 - 140,485,385 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,481,764 - 140,485,385	NCBI
Celera	5	136,578,393 - 136,582,013 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	135,646,277 - 135,649,897 (+)	NCBI		HuRef
CHM1_1	5	139,934,771 - 139,938,391 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	141,647,136 - 141,650,941 (+)	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)

epilepsy (IAGP)

familial adenomatous polyposis 1 (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

5-azacytidine (EXP)

6-propyl-2-thiouracil (ISO)

8-Br-cAMP (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

atrazine (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

bisphenol F (ISO)

bucladesine (EXP)

CGP 52608 (EXP)

copper atom (ISO)

copper(0) (ISO)

cyclosporin A (EXP)

disodium selenite (EXP)

dorsomorphin (EXP)

entinostat (EXP)

folic acid (ISO)

medroxyprogesterone acetate (EXP)

mercury atom (ISO)

mercury(0) (ISO)

methylmercury chloride (EXP)

Monobutylphthalate (ISO)

N-methyl-4-phenylpyridinium (EXP)

nickel atom (EXP)

potassium dichromate (ISO)

pravastatin (ISO)

SB 431542 (EXP)

trichloroethene (ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (NAS)

cell adhesion (IBA,IEA,TAS)

chemical synaptic transmission (TAS)

homophilic cell adhesion via plasma membrane adhesion molecules (IEA)

nervous system development (IEA,TAS)

synapse assembly (TAS)

Cellular Component

membrane (IEA,NAS)

plasma membrane (IBA,IEA,TAS)

synapse (IEA)

Molecular Function

calcium ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Seizure (IAGP)

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:12231349	PMID:12477932	PMID:15489334	PMID:16344560	PMID:18029348	PMID:21873635
PMID:33961781

Genomics

Comparative Map Data

PCDHB4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	5	141,121,818 - 141,125,623 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	5	141,121,818 - 141,125,623 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	5	140,501,400 - 140,505,205 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	5	140,481,765 - 140,485,385 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	5	140,481,764 - 140,485,385	NCBI
Celera	5	136,578,393 - 136,582,013 (+)	NCBI		Celera
Cytogenetic Map	5	q31.3	NCBI
HuRef	5	135,646,277 - 135,649,897 (+)	NCBI		HuRef
CHM1_1	5	139,934,771 - 139,938,391 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	5	141,647,136 - 141,650,941 (+)	NCBI		T2T-CHM13v2.0

Pcdhb5
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	18	37,453,434 - 37,456,966 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	18	37,453,434 - 37,456,968 (+)	Ensembl		GRCm39 Ensembl
GRCm38	18	37,320,381 - 37,323,913 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	18	37,320,381 - 37,323,915 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	18	37,480,035 - 37,483,567 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	18	37,446,365 - 37,449,887 (+)	NCBI		MGSCv36	mm8
MGSCv36	18	37,507,497 - 37,511,019 (+)	NCBI		MGSCv36	mm8
Celera	18	38,665,642 - 38,669,173 (+)	NCBI		Celera
Cytogenetic Map	18	B3	NCBI
cM Map	18	19.47	NCBI

Pcdhb5
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	18	29,302,466 - 29,305,048 (+)	NCBI		GRCr8
mRatBN7.2	18	29,024,315 - 29,032,183 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	18	29,028,382 - 29,053,259 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	18	29,155,586 - 29,158,168 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	18	29,917,648 - 29,920,230 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	18	29,252,881 - 29,255,463 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	18	30,398,113 - 30,400,695 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	18	30,398,113 - 30,400,695 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	18	30,105,642 - 30,108,224 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	18	30,127,192 - 30,129,774 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	18	30,154,026 - 30,156,418 (+)	NCBI
Celera	18	28,731,022 - 28,733,604 (+)	NCBI		Celera
Cytogenetic Map	18	p11	NCBI

LOC103783391
(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	136,364,588 - 136,382,380 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	5	134,514,756 - 134,521,932 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	5	136,484,686 - 136,489,194 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	5	142,598,785 - 142,601,642 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

LOC100855970
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	36,178,858 - 36,184,360 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	33,230,768 - 33,236,860 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	36,633,421 - 36,637,791 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	36,634,378 - 36,637,779 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	33,707,773 - 33,713,672 (+)	NCBI		UMICH_Zoey_3.1
UU_Cfam_GSD_1.0	2	35,326,167 - 35,332,258 (+)	NCBI		UU_Cfam_GSD_1.0

LOC110259512
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	2	142,816,658 - 142,822,048 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

PCDHB4
(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	43,747,220 - 43,765,491 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666034	34,102,963 - 34,108,374 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in PCDHB4
79 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_018938.3(PCDHB4):c.258G>A (p.Arg86=)	single nucleotide variant	Malignant melanoma [RCV000066699]	Chr5:141122256 [GRCh38] Chr5:140501838 [GRCh37] Chr5:140482022 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.259G>A (p.Glu87Lys)	single nucleotide variant	Malignant melanoma [RCV000066700]	Chr5:141122257 [GRCh38] Chr5:140501839 [GRCh37] Chr5:140482023 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.581T>G (p.Val194Gly)	single nucleotide variant	Malignant melanoma [RCV000066701]	Chr5:141122579 [GRCh38] Chr5:140502161 [GRCh37] Chr5:140482345 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.1830G>A (p.Glu610=)	single nucleotide variant	Malignant melanoma [RCV000066702]	Chr5:141123828 [GRCh38] Chr5:140503410 [GRCh37] Chr5:140483594 [NCBI36] Chr5:5q31.3	not provided
NM_018938.3(PCDHB4):c.2350G>A (p.Glu784Lys)	single nucleotide variant	Malignant melanoma [RCV000061143]	Chr5:141124348 [GRCh38] Chr5:140503930 [GRCh37] Chr5:140484114 [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
NM_018938.4(PCDHB4):c.915del (p.Lys305fs)	deletion	Epilepsy [RCV002464133]\|Seizure [RCV000162121]\|not provided [RCV001589022]	Chr5:141122905 [GRCh38] Chr5:140502487 [GRCh37] Chr5:5q31.3	likely pathogenic\|uncertain significance\|not provided
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 [RCV004561496]\|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 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_018938.4(PCDHB4):c.1858A>G (p.Asn620Asp)	single nucleotide variant	not specified [RCV004313659]	Chr5:141123856 [GRCh38] Chr5:140503438 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1698T>G (p.Asn566Lys)	single nucleotide variant	not specified [RCV004298250]	Chr5:141123696 [GRCh38] Chr5:140503278 [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
NM_018938.4(PCDHB4):c.1998C>T (p.Ser666=)	single nucleotide variant	not provided [RCV000893207]	Chr5:141123996 [GRCh38] Chr5:140503578 [GRCh37] Chr5:5q31.3	likely benign
Single allele	deletion	Neurodevelopmental disorder [RCV000787436]	Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32	uncertain significance
NM_018938.4(PCDHB4):c.1704C>T (p.Ser568=)	single nucleotide variant	not provided [RCV000905583]	Chr5:141123702 [GRCh38] Chr5:140503284 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1437G>A (p.Ser479=)	single nucleotide variant	not provided [RCV000971515]	Chr5:141123435 [GRCh38] Chr5:140503017 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1657A>G (p.Thr553Ala)	single nucleotide variant	not provided [RCV000948304]	Chr5:141123655 [GRCh38] Chr5:140503237 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1343C>G (p.Pro448Arg)	single nucleotide variant	not specified [RCV004291441]	Chr5:141123341 [GRCh38] Chr5:140502923 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.503A>G (p.Lys168Arg)	single nucleotide variant	not provided [RCV000961654]	Chr5:141122501 [GRCh38] Chr5:140502083 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1572G>A (p.Gln524=)	single nucleotide variant	not provided [RCV000879081]	Chr5:141123570 [GRCh38] Chr5:140503152 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.853G>C (p.Asp285His)	single nucleotide variant	not provided [RCV000958824]	Chr5:141122851 [GRCh38] Chr5:140502433 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1989T>C (p.Asp663=)	single nucleotide variant	not provided [RCV000893206]	Chr5:141123987 [GRCh38] Chr5:140503569 [GRCh37] Chr5:5q31.3	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_018938.4(PCDHB4):c.1339G>C (p.Ala447Pro)	single nucleotide variant	not provided [RCV000974565]	Chr5:141123337 [GRCh38] Chr5:140502919 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1340C>A (p.Ala447Asp)	single nucleotide variant	not provided [RCV000974566]	Chr5:141123338 [GRCh38] Chr5:140502920 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1833T>C (p.Pro611=)	single nucleotide variant	not provided [RCV000974567]	Chr5:141123831 [GRCh38] Chr5:140503413 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1917C>G (p.Leu639=)	single nucleotide variant	not provided [RCV000930907]	Chr5:141123915 [GRCh38] Chr5:140503497 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.630C>T (p.Thr210=)	single nucleotide variant	not provided [RCV000908045]	Chr5:141122628 [GRCh38] Chr5:140502210 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1451A>G (p.Gln484Arg)	single nucleotide variant	not provided [RCV000892269]	Chr5:141123449 [GRCh38] Chr5:140503031 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.2052T>G (p.Ser684=)	single nucleotide variant	not provided [RCV000923688]	Chr5:141124050 [GRCh38] Chr5:140503632 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1153C>T (p.Pro385Ser)	single nucleotide variant	not provided [RCV000966350]	Chr5:141123151 [GRCh38] Chr5:140502733 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.1521A>G (p.Ala507=)	single nucleotide variant	not provided [RCV000948709]	Chr5:141123519 [GRCh38] Chr5:140503101 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.130G>T (p.Val44Leu)	single nucleotide variant	not provided [RCV000975081]	Chr5:141122128 [GRCh38] Chr5:140501710 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.179C>T (p.Ser60Phe)	single nucleotide variant	not provided [RCV000956312]	Chr5:141122177 [GRCh38] Chr5:140501759 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.764C>T (p.Pro255Leu)	single nucleotide variant	not provided [RCV001596716]	Chr5:141122762 [GRCh38] Chr5:140502344 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.763C>T (p.Pro255Ser)	single nucleotide variant	not provided [RCV001647954]	Chr5:141122761 [GRCh38] Chr5:140502343 [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_018938.4(PCDHB4):c.597G>A (p.Leu199=)	single nucleotide variant	not provided [RCV001540054]	Chr5:141122595 [GRCh38] Chr5:140502177 [GRCh37] Chr5:5q31.3	benign
GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001801202]	Chr5:139493717..140517454 [GRCh37] Chr5:5q31.2-31.3	pathogenic
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_018938.4(PCDHB4):c.2231T>A (p.Leu744Gln)	single nucleotide variant	not specified [RCV004236087]	Chr5:141124229 [GRCh38] Chr5:140503811 [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_018938.4(PCDHB4):c.2202T>G (p.His734Gln)	single nucleotide variant	not specified [RCV004205109]	Chr5:141124200 [GRCh38] Chr5:140503782 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1507G>A (p.Val503Ile)	single nucleotide variant	not specified [RCV004164732]	Chr5:141123505 [GRCh38] Chr5:140503087 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2006A>G (p.Tyr669Cys)	single nucleotide variant	not specified [RCV004143662]	Chr5:141124004 [GRCh38] Chr5:140503586 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1648G>A (p.Val550Met)	single nucleotide variant	not specified [RCV004238766]	Chr5:141123646 [GRCh38] Chr5:140503228 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1796C>G (p.Ala599Gly)	single nucleotide variant	not specified [RCV004082885]	Chr5:141123794 [GRCh38] Chr5:140503376 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1249A>T (p.Asn417Tyr)	single nucleotide variant	not specified [RCV004103867]	Chr5:141123247 [GRCh38] Chr5:140502829 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1172T>C (p.Ile391Thr)	single nucleotide variant	not specified [RCV004133398]	Chr5:141123170 [GRCh38] Chr5:140502752 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.803T>C (p.Ile268Thr)	single nucleotide variant	not specified [RCV004150611]	Chr5:141122801 [GRCh38] Chr5:140502383 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.772T>C (p.Ser258Pro)	single nucleotide variant	not specified [RCV004198824]	Chr5:141122770 [GRCh38] Chr5:140502352 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2329G>C (p.Asp777His)	single nucleotide variant	not specified [RCV004095327]	Chr5:141124327 [GRCh38] Chr5:140503909 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.931A>C (p.Ile311Leu)	single nucleotide variant	not specified [RCV004132469]	Chr5:141122929 [GRCh38] Chr5:140502511 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1601A>G (p.Asp534Gly)	single nucleotide variant	not specified [RCV004178769]	Chr5:141123599 [GRCh38] Chr5:140503181 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1890C>G (p.Ser630Arg)	single nucleotide variant	not specified [RCV004078512]	Chr5:141123888 [GRCh38] Chr5:140503470 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1375G>C (p.Val459Leu)	single nucleotide variant	not specified [RCV004206866]	Chr5:141123373 [GRCh38] Chr5:140502955 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2367A>T (p.Arg789Ser)	single nucleotide variant	not specified [RCV004113172]	Chr5:141124365 [GRCh38] Chr5:140503947 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.181C>G (p.Arg61Gly)	single nucleotide variant	not specified [RCV004234392]	Chr5:141122179 [GRCh38] Chr5:140501761 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.932T>C (p.Ile311Thr)	single nucleotide variant	not specified [RCV004173598]	Chr5:141122930 [GRCh38] Chr5:140502512 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1277G>A (p.Gly426Glu)	single nucleotide variant	not specified [RCV004123078]	Chr5:141123275 [GRCh38] Chr5:140502857 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1374C>A (p.Phe458Leu)	single nucleotide variant	not specified [RCV004245625]	Chr5:141123372 [GRCh38] Chr5:140502954 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.17G>A (p.Arg6Lys)	single nucleotide variant	not specified [RCV004191430]	Chr5:141122015 [GRCh38] Chr5:140501597 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.586G>A (p.Asp196Asn)	single nucleotide variant	not specified [RCV004183616]	Chr5:141122584 [GRCh38] Chr5:140502166 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1480G>A (p.Asp494Asn)	single nucleotide variant	not specified [RCV004210589]	Chr5:141123478 [GRCh38] Chr5:140503060 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.634G>A (p.Val212Met)	single nucleotide variant	not specified [RCV004212304]	Chr5:141122632 [GRCh38] Chr5:140502214 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1039A>T (p.Ile347Phe)	single nucleotide variant	not specified [RCV004172648]	Chr5:141123037 [GRCh38] Chr5:140502619 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.932T>G (p.Ile311Ser)	single nucleotide variant	not specified [RCV004145278]	Chr5:141122930 [GRCh38] Chr5:140502512 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.491A>G (p.Asn164Ser)	single nucleotide variant	not specified [RCV004079838]	Chr5:141122489 [GRCh38] Chr5:140502071 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.652T>A (p.Ser218Thr)	single nucleotide variant	not specified [RCV004264144]	Chr5:141122650 [GRCh38] Chr5:140502232 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1239C>A (p.Ser413Arg)	single nucleotide variant	not specified [RCV004266685]	Chr5:141123237 [GRCh38] Chr5:140502819 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1517A>G (p.Asn506Ser)	single nucleotide variant	not specified [RCV004249260]	Chr5:141123515 [GRCh38] Chr5:140503097 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.5A>G (p.Lys2Arg)	single nucleotide variant	not specified [RCV004318024]	Chr5:141122003 [GRCh38] Chr5:140501585 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1548G>T (p.Arg516Ser)	single nucleotide variant	not specified [RCV004254582]	Chr5:141123546 [GRCh38] Chr5:140503128 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1543C>T (p.Leu515Phe)	single nucleotide variant	not specified [RCV004300685]	Chr5:141123541 [GRCh38] Chr5:140503123 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1187T>G (p.Leu396Trp)	single nucleotide variant	not specified [RCV004356341]	Chr5:141123185 [GRCh38] Chr5:140502767 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1060T>A (p.Ser354Thr)	single nucleotide variant	not specified [RCV004349340]	Chr5:141123058 [GRCh38] Chr5:140502640 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1061C>A (p.Ser354Tyr)	single nucleotide variant	not specified [RCV004349341]	Chr5:141123059 [GRCh38] Chr5:140502641 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1079_1080del (p.Pro360fs)	deletion	not provided [RCV003429823]	Chr5:141123077..141123078 [GRCh38] Chr5:140502659..140502660 [GRCh37] Chr5:5q31.3	benign
NM_018938.4(PCDHB4):c.95A>T (p.Tyr32Phe)	single nucleotide variant	not specified [RCV004498101]	Chr5:141122093 [GRCh38] Chr5:140501675 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.968G>C (p.Gly323Ala)	single nucleotide variant	not specified [RCV004498102]	Chr5:141122966 [GRCh38] Chr5:140502548 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.217C>G (p.Arg73Gly)	single nucleotide variant	not specified [RCV004498093]	Chr5:141122215 [GRCh38] Chr5:140501797 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2185G>A (p.Gly729Ser)	single nucleotide variant	not specified [RCV004498094]	Chr5:141124183 [GRCh38] Chr5:140503765 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2321T>G (p.Leu774Trp)	single nucleotide variant	not specified [RCV004498096]	Chr5:141124319 [GRCh38] Chr5:140503901 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.638C>G (p.Ala213Gly)	single nucleotide variant	not specified [RCV004498099]	Chr5:141122636 [GRCh38] Chr5:140502218 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.678G>A (p.Met226Ile)	single nucleotide variant	not specified [RCV004498100]	Chr5:141122676 [GRCh38] Chr5:140502258 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1024A>G (p.Asn342Asp)	single nucleotide variant	not specified [RCV004498088]	Chr5:141123022 [GRCh38] Chr5:140502604 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2328G>C (p.Gln776His)	single nucleotide variant	not specified [RCV004498097]	Chr5:141124326 [GRCh38] Chr5:140503908 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2127G>A (p.Ala709=)	single nucleotide variant	EBV-positive nodal T- and NK-cell lymphoma [RCV004557868]	Chr5:141124125 [GRCh38] Chr5:140503707 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.1911C>G (p.His637Gln)	single nucleotide variant	not specified [RCV004498092]	Chr5:141123909 [GRCh38] Chr5:140503491 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.125C>A (p.Ser42Tyr)	single nucleotide variant	not specified [RCV004498090]	Chr5:141122123 [GRCh38] Chr5:140501705 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.271C>T (p.Arg91Trp)	single nucleotide variant	not specified [RCV004498098]	Chr5:141122269 [GRCh38] Chr5:140501851 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1484C>T (p.Pro495Leu)	single nucleotide variant	not specified [RCV004664420]	Chr5:141123482 [GRCh38] Chr5:140503064 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.778A>G (p.Ile260Val)	single nucleotide variant	not specified [RCV004664422]	Chr5:141122776 [GRCh38] Chr5:140502358 [GRCh37] Chr5:5q31.3	likely benign
NM_018938.4(PCDHB4):c.710A>G (p.Asn237Ser)	single nucleotide variant	not specified [RCV004664419]	Chr5:141122708 [GRCh38] Chr5:140502290 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2276G>C (p.Gly759Ala)	single nucleotide variant	not specified [RCV004664421]	Chr5:141124274 [GRCh38] Chr5:140503856 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1573G>T (p.Ala525Ser)	single nucleotide variant	not specified [RCV004653206]	Chr5:141123571 [GRCh38] Chr5:140503153 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1436C>T (p.Ser479Leu)	single nucleotide variant	not specified [RCV004653209]	Chr5:141123434 [GRCh38] Chr5:140503016 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1469T>C (p.Leu490Pro)	single nucleotide variant	not specified [RCV004664423]	Chr5:141123467 [GRCh38] Chr5:140503049 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1498G>T (p.Ala500Ser)	single nucleotide variant	not specified [RCV004664425]	Chr5:141123496 [GRCh38] Chr5:140503078 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1295C>T (p.Thr432Ile)	single nucleotide variant	not specified [RCV004664424]	Chr5:141123293 [GRCh38] Chr5:140502875 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2161G>A (p.Val721Met)	single nucleotide variant	not specified [RCV004664426]	Chr5:141124159 [GRCh38] Chr5:140503741 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.1603C>A (p.Arg535Ser)	single nucleotide variant	not specified [RCV004653205]	Chr5:141123601 [GRCh38] Chr5:140503183 [GRCh37] Chr5:5q31.3	uncertain significance
NM_018938.4(PCDHB4):c.2158T>C (p.Ser720Pro)	single nucleotide variant	not specified [RCV004653208]	Chr5:141124156 [GRCh38] Chr5:140503738 [GRCh37] Chr5:5q31.3	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	429
Count of miRNA genes:	304
Interacting mature miRNAs:	324
Transcripts:	ENST00000194152
Prediction methods:	Miranda
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

Markers in Region

G65651

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,504,545 - 140,504,968	UniSTS	GRCh37
Build 36	5	140,484,729 - 140,485,152	RGD	NCBI36
Celera	5	136,581,357 - 136,581,780	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	135,649,241 - 135,649,664	UniSTS

RH78811

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	5	140,505,017 - 140,505,141	UniSTS	GRCh37
Build 36	5	140,485,201 - 140,485,325	RGD	NCBI36
Celera	5	136,581,829 - 136,581,953	RGD
Cytogenetic Map	5	q31	UniSTS
HuRef	5	135,649,713 - 135,649,837	UniSTS
GeneMap99-GB4 RH Map	5	531.42	UniSTS
NCBI RH Map	5	889.1	UniSTS

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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2361	2788	2228	4961	1705	2302	3	605	992	446	2260	6268	5526	41	3731	1	839	1705	1585	170	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_000017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NG_050761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018938	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC244517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF152497	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF217754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313640	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW135510	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC099725	(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
	DA231000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA409037	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000194152 ⟹ ENSP00000194152

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,121,818 - 141,125,623 (+)	Ensembl

Ensembl Acc Id:

ENST00000623478

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	5	141,121,818 - 141,124,147 (+)	Ensembl

RefSeq Acc Id:

NM_018938 ⟹ NP_061761

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,121,818 - 141,125,623 (+)	NCBI
GRCh37	5	140,501,581 - 140,505,201 (+)	RGD
Build 36	5	140,481,765 - 140,485,385 (+)	NCBI Archive
Celera	5	136,578,393 - 136,582,013 (+)	RGD
HuRef	5	135,646,028 - 135,649,901 (+)	NCBI
CHM1_1	5	139,934,522 - 139,938,395 (+)	NCBI
T2T-CHM13v2.0	5	141,647,136 - 141,650,941 (+)	NCBI

Sequence:

show sequence

ACACGGAAGAAGCGTTACAAGCAGTGCAGGTTTACCAACGGCTTGGGGCAGCGATATACTAAAC
AAATTTAATATTAAAAGCAACTGTGTGACGATTCCTCCAAGCAAGAAATTGGAATTGAATGTCT
CAAGTCTCGTTGCGGTTGCTGAGGGGATTGGATATAGGGACCTGGACTCCAACATGAAGAAGCT
AGGGAGAATTCATCCAAACAGGCAAGTGTTGGCCTTTATTTTGATGGTGTTCTTGTCTCAGGTT
CGCCTCGAGCCTATTCGTTATTCTGTGTTGGAGGAAACAGAGAGCGGCTCCTTTGTAGCCCATC
TGGCCAAGGATCTGGGCCTGGGAATTGGGGAACTGGCCTCCCGGTCAGCCCGGGTGCTGTCTGA
CGATGACAAGCAGCGTTTGCAGCTGGATCGTCAGACTGGAGATTTGCTTCTGAGGGAGAAACTA
GACCGGGAAGAGCTCTGTGGTCCTATTGAACCGTGTGTACTGCATTTCCAAGTGTTCCTGGAAA
TGCCGGTGCAATTTTTTCAAGGAGAATTATTGATCCAGGACATAAATGATCACTCTCCAATATT
CCCTGAAAGGGAAGTGCTCTTGAAAATACTAGAAAATAGCCAGCCGGGTACTCTATTTCCGTTG
CTAATAGCTGAGGATTTGGATGTGGGCAGCAATGGTCTTCAAAAATACACAATCAGCCCCAATT
CTCATTTTCACATTCTCACTCGAAATCATAGTGAGGGCAAGAAATACCCAGATTTGGTGCAGGA
CAAACCACTGGATCGAGAGGAGCAGCCTGAGTTCAGCTTAACCCTCGTGGCGCTGGATGGTGGG
TCACCACCTAGGTCTGGCACGGTCATGGTTCGAATCCTGATCATGGACATCAATGACAATGCTC
CTGAGTTTGTGCACACTCCATATGGGGTGCAGGTCCTGGAAAACAGCCCCCTAGACTCTCCAAT
TGTTAGGGTCTTAGCTAGAGATATAGATGCTGGAAACTTCGGGAGTGTTTCTTATGGCTTATTC
CAAGCATCAGATGAAATTAAACAAACTTTCTCAATAAATGAAGTCACGGGAGAAATACTGTTGA
AAAAAAAATTGGATTTCGAAAAAATTAAATCTTACCATGTAGAAATTGAGGCCACAGATGGAGG
AGGCCTTTCTGGAAAAGGCACTGTAGTCATAGAGGTGGTGGATGTGAATGACAATCCCCCAGAA
CTTATCATATCTTCACTCACCAGCTCCATCCCAGAAAATGCTCCTGAGACGGTAGTCTCTATCT
TCCGAATTCGAGATAGAGATTCCGGAGAAAATGGAAAGATGATTTGCTCTATTCCAGATAATCT
ACCGTTTATTCTAAAACCAACTTTGAAGAATTTTTACACCCTGGTAACAGAGAGACCACTGGAC
CGAGAGACCAGCGCTGAGTACAACATCACCATCGCCGTCACTGACTTGGGGACACCCAGGCTGA
AAACCCAGCAGAACATAACCGTGCAGGTCTCCGACGTCAATGACAACGCCCCCGCCTTCACCCA
AACCTCCTACACCCTGTTCGTCCGCGAGAACAACAGCCCCGCCCTGCACATCGGCAGTGTCAGC
GCCACAGACAGAGACTCGGGCACCAACGCCCAGGTCACCTACTCGCTGCTGCCGCCCCAGGACC
CGCACCTGCCCCTCGCCTCCCTGGTCTCCATCAACGCAGACAACGGCCACCTGTTCGCCCTCAG
GTCGCTGGACTACGAGGCCCTGCAGGCGTTCGAGTTCCGCGTGGGCGCCTCAGACCGCGGTTCT
CCGGCTTTGAGCAGCGAGGCGCTGGTGCGCGTGCTGGTGCTGGACACCAACGACAACTCGCCCT
TCGTGCTGTACCCGCTGCAGAATGGCTCCGCGCCCTGCACCGAGCTGGTGCCCCGGGCGGCCGA
GCCGGGCTACCTGGTGACCAAGGTGGTGGCGGTGGACGGCGACTCGGGCCAGAACGCCTGGCTG
TCGTACCAGCTGCTCAAGGCCACGGAGCCTGGGCTGTTCGGCGTGTGGGCGCACAATGGCGAGG
TGCGCACCGCCAGGCTGCTGAGCGAGCGCGACGCAGCCAAGCACAGGCTCGTGGTGCTTGTCAA
GGACAATGGCGAGCCTCCGCGCTCGGCCACCGCCACGCTGCACGTGCTCCTGGTGGATGGCTTC
TCCCAGCCCTACCTGCCTCTCCCTGAGGCGGCCCCGGCCCAGGCCCAGGCCGACTCTCTCACCG
TCTACCTGGTGGTGGCGTTGGCCTCGGTGTCGTCGCTCTTCCTCTTCTCGGTGCTCCTGTTCGT
GGCGGTGCGGCTGTGCAGGAGGAGCAGGGCGGCCTCGGTGGGTCGCTGCTCGGTGCCCGAGGGC
CCCTTTCCAGGGCATCTGGTGGACGTAAGCGGCACCGGGACCCTGTCCCAGAGCTACCAGTACG
AGGTGTGTCTGACAGGAGACTCTGGGACTGGTGAGTTCAAGTTCCTGAAGCCAATATTTCCTAA
TCTCTTGGTTCAGGACACCGGGAGGGAAGTTAAGGAAAACCCCAAGTTCAGAAATAGCTTGGTA
TTCAGTTAAGTATTGTATTTAGTTCAGTGAACCGCCCGTTAGTTTTGTCAAACTTCCCACTGCA
ATGCCTTTATTTAAAAAAATTGTCTACTTATCTAAATATTCATACCACAATTTCAAACCTACTC
ATGTCCCTGATAAAGCTAAATTTGTCCCTTTTTTATTGTTATTAATTGCACTTAACATTTTTAG
TTATACTGGATATTGAGTATGGATTTTCTCTATATTTGATCTATTGGTGATTAATCTTTTTGTA
ATCATAAATTACTCAATTAGGATAAAAATAAATTATGTTTTAATGAAATTCTTAAATTAACATC
TTTTTAATGGAACATTTAAGTGAATATATGAATATTGAATTTCTAAATATTTGTTGTGCCTGTC
TTTACCATGTAACTTAATGTTTGCAAGGCCAGAGTGTTTGAAAGTTTTGTATTTAACTTTATAA
TTACCTTGTCCTTTCTGGTTGACTATACTAGGCTAAGCCCTCTTAATAGCCATGAGTGTAAAAT
TTAGTTTACTCATTTTTCACAAATTGTATATAAACATGCACTTCACTACATTGGTAATACACTA
AAATTGTGGTCCTTTTCCTCTTGTGACCACCACATGTCTAGTGATTATTTTGTTTATTTGGTTG
CTACTTACCTAGCACATTGTAATGTTCCATGAATGCTAATATTAAATTTTGTAAAAATAACTTA
TTTATAAATAATTTTTAAAGAGAAAAATCTCATATAATTTGTCATAACCTTTCAATAAATAAAA
CTGTTAAATCATGGCCTGATATCATCTTAAAAAAAAATCTCAGAATCTGAAATAAGCCCTAAAT
TTCTCCCCAAAATCAAGACTCTTGAGAGCATCATAGGTCTCCTTGTGCTACCTTTTACTCCCTA
TAAATAGAAATCCAAGTATACTTTAATATGTGTATATTTTTTGGTTTTCCTACAGCTTCTCCCC
ATCTTTCAAAAGAATCACGAAATTTCTTCTGCACCTTGGCTATTCTGTTTAAATCTGATAATCA
GTTGATCTCAGGTTTTTCACTGTACATTACTTTGCAGATATGGACAGCCTTTACAAAAATAATT
TTTAAATGCTTAATTATTTTAATTTGTTCTTTAAGGTAACCTTCAGTTATTTTGAATTAATTTA
ACTTCTCAATTATGCCAAAGTTGCACTTGCATGAAATAAATATTATTTTGTCCTTGTATAGACT
GGAACAGTAATAAATTTATCTGAATTAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_061761	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAD43758	(Get FASTA)	NCBI Sequence Viewer
	AAH98139	(Get FASTA)	NCBI Sequence Viewer
	AAH98346	(Get FASTA)	NCBI Sequence Viewer
	AAK51621	(Get FASTA)	NCBI Sequence Viewer
	BAG36398	(Get FASTA)	NCBI Sequence Viewer
	EAW61980	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000194152
	ENSP00000194152.1
	ENSP00000517186.1
GenBank Protein	Q9Y5E5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_061761 ⟸ NM_018938
- Peptide Label:	precursor
- UniProtKB:	Q4V761 (UniProtKB/Swiss-Prot), Q9Y5E5 (UniProtKB/Swiss-Prot), B2R951 (UniProtKB/TrEMBL)
- Sequence:	show sequence MKKLGRIHPNRQVLAFILMVFLSQVRLEPIRYSVLEETESGSFVAHLAKDLGLGIGELASRSAR VLSDDDKQRLQLDRQTGDLLLREKLDREELCGPIEPCVLHFQVFLEMPVQFFQGELLIQDINDH SPIFPEREVLLKILENSQPGTLFPLLIAEDLDVGSNGLQKYTISPNSHFHILTRNHSEGKKYPD LVQDKPLDREEQPEFSLTLVALDGGSPPRSGTVMVRILIMDINDNAPEFVHTPYGVQVLENSPL DSPIVRVLARDIDAGNFGSVSYGLFQASDEIKQTFSINEVTGEILLKKKLDFEKIKSYHVEIEA TDGGGLSGKGTVVIEVVDVNDNPPELIISSLTSSIPENAPETVVSIFRIRDRDSGENGKMICSI PDNLPFILKPTLKNFYTLVTERPLDRETSAEYNITIAVTDLGTPRLKTQQNITVQVSDVNDNAP AFTQTSYTLFVRENNSPALHIGSVSATDRDSGTNAQVTYSLLPPQDPHLPLASLVSINADNGHL FALRSLDYEALQAFEFRVGASDRGSPALSSEALVRVLVLDTNDNSPFVLYPLQNGSAPCTELVP RAAEPGYLVTKVVAVDGDSGQNAWLSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLV VLVKDNGEPPRSATATLHVLLVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSV LLFVAVRLCRRSRAASVGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGDSGTGEFKFLKP IFPNLLVQDTGREVKENPKFRNSLVFS hide sequence

Ensembl Acc Id:

ENSP00000194152 ⟸ ENST00000194152

Protein Domains

Cadherin

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9Y5E5-F1-model_v2	AlphaFold	Q9Y5E5	1-795	view protein structure

Promoters

RGD ID:

6870936

Promoter ID:

EPDNEW_H8632

Type:

initiation region

Name:

PCDHB4_1

Description:

protocadherin beta 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	5	141,121,818 - 141,121,878	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:8689	AgrOrtholog
COSMIC	PCDHB4	COSMIC
Ensembl Genes	ENSG00000081818	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000291676	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000194152	ENTREZGENE
	ENST00000194152.4	UniProtKB/Swiss-Prot
	ENST00000708352.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Cadherins	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000081818	GTEx
	ENSG00000291676	GTEx
HGNC ID	HGNC:8689	ENTREZGENE
Human Proteome Map	PCDHB4	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:56131	UniProtKB/Swiss-Prot
NCBI Gene	56131	ENTREZGENE
OMIM	606330	OMIM
PANTHER	CADHERIN-87A	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PROTOCADHERIN BETA-4	UniProtKB/TrEMBL, 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	PA33038	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	B2R951	ENTREZGENE, UniProtKB/TrEMBL
	PCDB4_HUMAN	UniProtKB/Swiss-Prot
	Q4V761	ENTREZGENE
	Q9Y5E5	ENTREZGENE
UniProt Secondary	Q4V761	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 Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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