ZFIN Gene: pcdh15a

ZFIN ID: ZDB-GENE-030616-3

ZFIN ID: ZDB-GENE-030616-3

Gene Name:

protocadherin-related 15a

Gene Symbol:

pcdh15a Nomenclature History

Previous Names:

orb, orbiter, si:bac7cse.1, si:xx-bac7cse.1

Gene Type:

protein_coding_gene

Location:

Chr: 13 Mapping Details/Browsers

Description:

Predicted to have calcium ion binding activity. Involved in several processes, including cilium assembly; detection of mechanical stimulus involved in sensory perception of sound; and hair cell differentiation. Predicted to localize to integral component of plasma membrane. Is expressed in several structures, including hair cell; hatching gland; polster; sensory system; and trunk. Human ortholog(s) of this gene implicated in Usher syndrome type 1D; Usher syndrome type 1F; and autosomal recessive nonsyndromic deafness 23. Orthologous to human PCDH15 (protocadherin related 15).

Genome Resources:

Alliance (1), Gene:368476 (1), Ensembl(GRCz11):ENSDARG00000098257 (1)

GENE EXPRESSION
All Expression Data:	21 figures from 10 publications
Directly Submitted Expression Data:	6 figures (4 images) from Thisse et al., 2005 [eu634]
	1 figure (1 image) from Thisse et al., 2005 [eu1029]
Wild-type Stages, Structures:	Segmentation:1-4 somites (10.33h-11.66h) to Adult (90d-730d, breeding adult)
	brain epiphysis hair cell stereocilium bundle hair cell stereocilium tip hair cell hatching gland immature eye inner ear hair cell inner ear lateral crista hair cell lateral crista stereocilium bundle lateral line hair cell macula neuroectoderm neuromast neuromast hair cell apical region neuromast hair cell kinocilium neuromast hair cell stereocilium bundle polster somite trunk neuromast whole organism
High Throughput Expression:	Expression Atlas (1)

MUTATIONS AND SEQUENCE TARGETING REAGENTS

Allele	Type	Localization	Consequence	Mutagen	Suppliers
la012402Tg	Transgenic Insertion	Unknown	Unknown	DNA	Zebrafish International Resource Center (ZIRC) (order this)
la018628Tg	Transgenic Insertion	Unknown	Unknown	DNA
psi7	Point Mutation	Unknown	Splice Site, Frameshift
sa483	Point Mutation	Unknown	Splice Site	ENU
sa1509	Point Mutation	Unknown	Premature Stop	ENU	Zebrafish International Resource Center (ZIRC) (order this)
sa2682	Point Mutation	Unknown	Splice Site	ENU
sa5868	Point Mutation	Unknown	Premature Stop	ENU
sa13589	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa19068	Point Mutation	Unknown	Splice Site	ENU
sa22367	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa35571	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
sa42279	Point Mutation	Unknown	Premature Stop	ENU	European Zebrafish Resource Center (EZRC) (order this) Zebrafish International Resource Center (ZIRC) (order this)
t288	Point Mutation	Unknown	Missense	ENU
t23281	Point Mutation	Unknown	Missense	ENU	European Zebrafish Resource Center (EZRC) (order this)
t25708	Point Mutation	Unknown	Missense	ENU	European Zebrafish Resource Center (EZRC) (order this)
tc256e	Point Mutation	Unknown	Missense	ENU	European Zebrafish Resource Center (EZRC) (order this)
th263b	Point Mutation	Unknown	Premature Stop	ENU

Sequence Targeting Reagents

Targeting Reagent	Created Alleles	Publications
CRISPR1-pcdh15a		2
CRISPR2-pcdh15a		2
CRISPR3-pcdh15a		2
CRISPR4-pcdh15a		2
CRISPR5-pcdh15a		2
CRISPR6-pcdh15a		2
CRISPR7-pcdh15a		2
CRISPR8-pcdh15a		2
CRISPR9-pcdh15a		2
CRISPR10-pcdh15a		2
MO1-pcdh15a	N/A	2

PHENOTYPE

Data:

14 figures from 6 publications

Observed in:

DISEASE ASSOCIATED WITH pcdh15a HUMAN ORTHOLOG

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
autosomal recessive nonsyndromic deafness 23	Alliance	Deafness, autosomal recessive 23	609533
Usher syndrome type 1D	Alliance	Usher syndrome, type 1D/F digenic	601067
Usher syndrome type 1F	Alliance	Usher syndrome, type 1F	602083

DISEASE ASSOCIATED WITH pcdh15a VIA EXPERIMENTAL MODELS No data available

GENE ONTOLOGY

Ontology	GO Term
Biological Process	cilium assembly (more)
Cellular Component	integral component of membrane (more)
Molecular Function	protein binding (more)

GO Terms (all 17)

PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available

TRANSCRIPTS
Type	Name	Length (nt)	Analysis
mRNA	pcdh15a-201 (1)	6495	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Browsers: UCSC, NCBI, Ensembl, ZFIN

INTERACTIONS AND PATHWAYS

ANTIBODIES

Name	Type	Isotype	Host Organism	Assay	Source	Publications
Ab1-pcdh15a	polyclonal		Rabbit	IHC	Proteintech	2
Ab2-pcdh15a	monoclonal		Mouse	IHC		4

PLASMIDS No data available

CONSTRUCTS WITH SEQUENCES FROM pcdh15a

Construct	Regulatory Regions	Coding Sequences	Species	Tg Lines	Publications
Tg(-6myo6b:pcdh15a-EGFP)	myo6b	EGFP, pcdh15a	Danio rerio	1	1
Tg2(-6myo6b:pcdh15a-EGFP)	myo6b	EGFP, pcdh15a	Danio rerio	1	2
Tg3(-6myo6b:pcdh15a-EGFP)	myo6b	EGFP, pcdh15a	Danio rerio	1	1
Tg4(-6myo6b:pcdh15a-EGFP)	myo6b	EGFP, pcdh15a	Danio rerio	1	1
Tg5(-6myo6b:pcdh15a-EGFP)	myo6b	EGFP, pcdh15a	Danio rerio	1	1
Tg6(-6myo6b:pcdh15a-EGFP)	myo6b	EGFP, pcdh15a	Danio rerio	1	1

MARKER RELATIONSHIPS

pcdh15a Contained in:	[BAC] CH73-54D9 (1), CH73-176C21 (1), CH73-182C23 (1), CH73-283N9 (1), CH211-151G17 (1), CH211-170I2 (1), DKEY-257M21 (1) (order this), DKEY-274K7 (1) (order this), XX-BAC6CSE, XX-BAC7CSE (1)
pcdh15a Encodes:	[EST] eu634 (1), eu1029 (1)

SEQUENCE INFORMATION

Type	Accession #	Length (nt/aa)	Analysis
RNA	RefSeq:NM_001012482 (1)	6521 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
Genomic	GenBank:BX548002 (1)	149569 nt	Select Tool MegaBLAST Ensembl
Polypeptide	UniProtKB:Q5ICW6 (1)	1796 aa	Select Tool ZFIN BLAST SIB BLAST Ensembl Protein Blast

Sequence Information (all 52)

ORTHOLOGY for pcdh15a ( Chr: 13 )

CITATIONS (47)

{{control.fieldName}} Edit

Attributions

Add new Alias

Attributions for Alias: {{control.newAlias}}

Delete Alias: