Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	56131
Gene name Gene Name - the full gene name approved by the HGNC.	Protocadherin beta 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PCDHB4
Synonyms (NCBI Gene) Gene synonyms aliases	PCDH-BETA4
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q31.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters.

Show/Hide all(1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs372292910	A>-,AA	Likely-pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(28)

miRTarBase ID	miRNA	Experiments
MIRT1217207	hsa-miR-3065-5p	CLIP-seq
MIRT1217208	hsa-miR-3158-3p	CLIP-seq
MIRT1217209	hsa-miR-4269	CLIP-seq
MIRT1217210	hsa-miR-4666-5p	CLIP-seq
MIRT1217211	hsa-miR-4721	CLIP-seq
MIRT1217212	hsa-miR-4802-3p	CLIP-seq
MIRT1217213	hsa-miR-548u	CLIP-seq
MIRT1217208	hsa-miR-3158-3p	CLIP-seq
MIRT2062708	hsa-miR-4477a	CLIP-seq
MIRT1217211	hsa-miR-4721	CLIP-seq
MIRT2062709	hsa-miR-548ag	CLIP-seq
MIRT2062710	hsa-miR-548ai	CLIP-seq
MIRT2062711	hsa-miR-624	CLIP-seq
MIRT2062712	hsa-miR-944	CLIP-seq
MIRT2291091	hsa-miR-142-3p	CLIP-seq
MIRT2291092	hsa-miR-3606	CLIP-seq
MIRT2291093	hsa-miR-3616-5p	CLIP-seq
MIRT2291094	hsa-miR-3647-5p	CLIP-seq
MIRT2291095	hsa-miR-4795-5p	CLIP-seq
MIRT2291096	hsa-miR-518a-5p	CLIP-seq
MIRT2291097	hsa-miR-519a	CLIP-seq
MIRT2291098	hsa-miR-519b-3p	CLIP-seq
MIRT2291099	hsa-miR-519c-3p	CLIP-seq
MIRT2291100	hsa-miR-527	CLIP-seq
MIRT2291101	hsa-miR-548c-3p	CLIP-seq
MIRT2291102	hsa-miR-556-3p	CLIP-seq
MIRT2291103	hsa-miR-573	CLIP-seq
MIRT2062712	hsa-miR-944	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007155	Process	Cell adhesion	IBA	21873635
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	12231349
GO:0007399	Process	Nervous system development	TAS	10380929
GO:0007416	Process	Synapse assembly	TAS	12231349
GO:0016021	Component	Integral component of membrane	NAS	11322959
GO:0016339	Process	Calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	NAS	11322959
GO:0045202	Component	Synapse	IEA

MIM	HGNC	e!Ensembl
606330	8689	ENSG00000081818

Protein

UniProt ID

Q9Y5E5

Protein name

Protocadherin beta-4 (PCDH-beta-4)

Protein function

Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08266	Cadherin_2	29 → 111	Cadherin-like	Domain
PF00028	Cadherin	138 → 232	Cadherin domain	Domain
PF00028	Cadherin	246 → 337	Cadherin domain	Domain
PF00028	Cadherin	351 → 441	Cadherin domain	Domain
PF00028	Cadherin	455 → 551	Cadherin domain	Domain
PF00028	Cadherin	574 → 662	Cadherin domain	Domain
PF16492	Cadherin_C_2	684 → 767	Cadherin cytoplasmic C-terminal	Family

Sequence

MKKLGRIHPNRQVLAFILMVFLSQVRLEPIRYSVLEETESGSFVAHLAKDLGLGIGELAS
RSARVLSDDDKQRLQLDRQTGDLLLREKLDREELCGPIEPCVLHFQVFLEMPVQFFQGEL
LIQDINDHSPIFPEREVLLKILENSQPGTLFPLLIAEDLDVGSNGLQKYTISPNSHFHIL
TRNHSEGKKYPDLVQDKPLDREEQPEFSLTLVALDGGSPPRSGTVMVRILIMDINDNAPE
FVHTPYGVQVLENSPLDSPIVRVLARDIDAGNFGSVSYGLFQASDEIKQTFSINEVTGEI
LLKKKLDFEKIKSYHVEIEATDGGGLSGKGTVVIEVVDVNDNPPELIISSLTSSIPENAP
ETVVSIFRIRDRDSGENGKMICSIPDNLPFILKPTLKNFYTLVTERPLDRETSAEYNITI
AVTDLGTPRLKTQQNITVQVSDVNDNAPAFTQTSYTLFVRENNSPALHIGSVSATDRDSG
TNAQVTYSLLPPQDPHLPLASLVSINADNGHLFALRSLDYEALQAFEFRVGASDRGSPAL
SSEALVRVLVLDTNDNSPFVLYPLQNGSAPCTELVPRAAEPGYLVTKVVAVDGDSGQNAW
LSYQLLKATEPGLFGVWAHNGEVRTARLLSERDAAKHRLVVLVKDNGEPPRSATATLHVL
LVDGFSQPYLPLPEAAPAQAQADSLTVYLVVALASVSSLFLFSVLLFVAVRLCRRSRAAS
VGRCSVPEGPFPGHLVDVSGTGTLSQSYQYEVCLTGDSGTGEFKFLKPIFPNLLVQDTGR
EVKENPKFRNSLVFS

Sequence length

795

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670 View all (165 more)

Show/Hide Text Mining Associations (3)

Disease Name	Relationship Type	References
Associations from Text Mining
Atlanto Axial Fusion	Associate	40225938
Fused Kidney	Associate	40225938
Klippel Feil Syndrome	Associate	40225938

PCDHB4 (protocadherin beta 4)