PCDHB13

Protein-coding gene in the species Homo sapiens
PCDHB13
Identifiers
AliasesPCDHB13, PCDH-BETA13, protocadherin beta 13
External IDsOMIM: 606339; HomoloGene: 128504; GeneCards: PCDHB13; OMA:PCDHB13 - orthologs
Gene location (Human)
Chromosome 5 (human)
Chr.Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for PCDHB13
Genomic location for PCDHB13
Band5q31.3Start141,213,919 bp[1]
End141,218,979 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • gonad

  • buccal mucosa cell

  • tendon

  • testicle

  • right ventricle

  • decidua

  • stromal cell of endometrium

  • ganglionic eminence

  • islet of Langerhans

  • corpus epididymis
    n/a
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
Cellular component
  • plasma membrane
  • membrane
  • integral component of membrane
  • integral component of plasma membrane
  • photoreceptor connecting cilium
  • synapse
  • postsynaptic membrane
  • photoreceptor disc membrane
Biological process
  • chemical synaptic transmission
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • synapse assembly
  • calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
  • cell adhesion
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

56123

n/a

Ensembl

ENSG00000187372

n/a

UniProt

Q9Y5F0

n/a

RefSeq (mRNA)

NM_018933

n/a

RefSeq (protein)

NP_061756

n/a

Location (UCSC)Chr 5: 141.21 – 141.22 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Protocadherin beta-13 is a protein that in humans is encoded by the PCDHB13 gene.[3][4]

Function

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. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections.[4]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000187372 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ Wu Q, Maniatis T (Jul 1999). "A striking organization of a large family of human neural cadherin-like cell adhesion genes". Cell. 97 (6): 779–90. doi:10.1016/S0092-8674(00)80789-8. PMID 10380929. S2CID 6014717.
  4. ^ a b "Entrez Gene: PCDHB13 protocadherin beta 13".

Further reading

  • Yagi T, Takeichi M (2000). "Cadherin superfamily genes: functions, genomic organization, and neurologic diversity". Genes Dev. 14 (10): 1169–80. doi:10.1101/gad.14.10.1169. PMID 10817752. S2CID 44844497.
  • Nollet F, Kools P, van Roy F (2000). "Phylogenetic analysis of the cadherin superfamily allows identification of six major subfamilies besides several solitary members". J. Mol. Biol. 299 (3): 551–72. doi:10.1006/jmbi.2000.3777. PMID 10835267.
  • Frank M, Kemler R (2003). "Protocadherins". Curr. Opin. Cell Biol. 14 (5): 557–62. doi:10.1016/S0955-0674(02)00365-4. PMID 12231349.
  • Wu Q, Maniatis T (2000). "Large exons encoding multiple ectodomains are a characteristic feature of protocadherin genes". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3124–9. doi:10.1073/pnas.060027397. PMC 16203. PMID 10716726.
  • Wu Q, Zhang T, Cheng JF, et al. (2001). "Comparative DNA Sequence Analysis of Mouse and Human Protocadherin Gene Clusters". Genome Res. 11 (3): 389–404. doi:10.1101/gr.167301. PMC 311048. PMID 11230163.
  • Vanhalst K, Kools P, Vanden Eynde E, van Roy F (2001). "The human and murine protocadherin-beta one-exon gene families show high evolutionary conservation, despite the difference in gene number". FEBS Lett. 495 (1–2): 120–5. doi:10.1016/S0014-5793(01)02372-9. PMID 11322959. S2CID 36671435.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC 403697. PMID 12975309.
  • Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039. S2CID 21903526.
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.


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