InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PCDH15

Summary

InnateDB Gene

IDBG-74763.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PCDH15

Gene Name

protocadherin-related 15

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000150275

Encoded Proteins

IDBP-74762

protocadherin-related 15

IDBP-74765

protocadherin-related 15

IDBP-74767

protocadherin-related 15

IDBP-74769

protocadherin-related 15

IDBP-74771

protocadherin-related 15

IDBP-74773

protocadherin-related 15

IDBP-239511

protocadherin-related 15

IDBP-239513

protocadherin-related 15

IDBP-239515

protocadherin-related 15

IDBP-239517

protocadherin-related 15

IDBP-239519

protocadherin-related 15

IDBP-239521

protocadherin-related 15

IDBP-239523

protocadherin-related 15

IDBP-239525

protocadherin-related 15

IDBP-293210

protocadherin-related 15

IDBP-376815

protocadherin-related 15

IDBP-376836

protocadherin-related 15

IDBP-376850

protocadherin-related 15

IDBP-376857

protocadherin-related 15

IDBP-376864

protocadherin-related 15

IDBP-811556

protocadherin-related 15

IDBP-811552

protocadherin-related 15

IDBP-811553

protocadherin-related 15

IDBP-811557

protocadherin-related 15

IDBP-811560

protocadherin-related 15

IDBP-811565

protocadherin-related 15

IDBP-811567

protocadherin-related 15

IDBP-811586

protocadherin-related 15

IDBP-811590

protocadherin-related 15

IDBP-811592

protocadherin-related 15

IDBP-811593

protocadherin-related 15

IDBP-811594

protocadherin-related 15

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:53802771-55627942

Strand

Reverse strand

Band

q21.1

Transcripts

ENST00000373965	ENSP00000363076
ENST00000361849	ENSP00000354950
ENST00000320301	ENSP00000322604
ENST00000373956	ENSP00000363067
ENST00000373957	ENSP00000363068
ENST00000373955	ENSP00000363066
ENST00000395446	ENSP00000378833
ENST00000395445	ENSP00000378832
ENST00000395442	ENSP00000378829
ENST00000395440	ENSP00000378827
ENST00000395438	ENSP00000378826
ENST00000395433	ENSP00000378821
ENST00000395432	ENSP00000378820
ENST00000395430	ENSP00000378818
ENST00000409834	ENSP00000386693
ENST00000414778	ENSP00000410304
ENST00000414367	ENSP00000412531
ENST00000448885	ENSP00000412320
ENST00000437009	ENSP00000412628
ENST00000458638	ENSP00000394465
ENST00000495484	ENSP00000480780
ENST00000476074
ENST00000463095
ENST00000616114	ENSP00000483745
ENST00000621708	ENSP00000484454
ENST00000618301	ENSP00000482780
ENST00000617271	ENSP00000478076
ENST00000613657	ENSP00000482794
ENST00000615043	ENSP00000478551
ENST00000613346	ENSP00000481211
ENST00000614895	ENSP00000478512
ENST00000617051	ENSP00000484703
ENST00000622048	ENSP00000482329
ENST00000612394	ENSP00000482921

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005509	calcium ion binding
GO:0005515	protein binding

Biological Process

GO:0001964	startle response
GO:0002009	morphogenesis of an epithelium
GO:0007015	actin filament organization
GO:0007156	homophilic cell adhesion
GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0007626	locomotory behavior
GO:0007628	adult walking behavior
GO:0035058	nonmotile primary cilium assembly
GO:0035264	multicellular organism growth
GO:0042491	auditory receptor cell differentiation
GO:0045494	photoreceptor cell maintenance
GO:0048839	inner ear development
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound
GO:0050953	sensory perception of light stimulus
GO:0050957	equilibrioception
GO:0050973	detection of mechanical stimulus involved in equilibrioception
GO:0060013	righting reflex
GO:0060088	auditory receptor cell stereocilium organization

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0005615	extracellular space
GO:0005737	cytoplasm
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0032420	stereocilium
GO:0045202	synapse
GO:0070062	extracellular vesicular exosome

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000052613

View Gene Order

ENSBTAG00000045905

Not yet available

Cross-References

SwissProt

TrEMBL

A2A3D9 E7EM97

UniProt Splice Variant

Entrez Gene

65217

UniGene

Hs.280209 Hs.554391 Hs.627680

RefSeq

NM_001142763 NM_001142764 NM_001142765 NM_001142766 NM_001142767 NM_001142768 NM_001142769 NM_001142770 NM_001142771 NM_001142772 NM_001142773 NM_033056 XM_006717950

HUGO

HGNC:14674

OMIM

605514

CCDS

CCDS44400 CCDS44401 CCDS44403 CCDS44404 CCDS7248 CCDS73134 CCDS73135 CCDS73136 CCDS73137 CCDS73138

HPRD

05698

IMGT

EMBL

AC013737 AC016817 AC016822 AC024073 AC027671 AC051618 AC069545 AC074322 AC079271 AL353784 AL355314 AL356114 AL360214 AL365496 AL390785 AL391356 AL603835

GenPept

RNA Seq Atlas

65217