DCHS2

Protein-coding gene in the species Homo sapiens
DCHS2
Identifiers
AliasesDCHS2, CDH27, CDHJ, CDHR7, PCDH23, PCDHJ, dachsous cadherin-related 2
External IDsOMIM: 612486; HomoloGene: 130686; GeneCards: DCHS2; OMA:DCHS2 - orthologs
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for DCHS2
Genomic location for DCHS2
Band4q31.3Start154,231,742 bp[1]
End154,491,799 bp[1]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • prefrontal cortex

  • Achilles tendon

  • superior frontal gyrus

  • nucleus accumbens

  • smooth muscle tissue

  • muscle layer of sigmoid colon

  • sural nerve

  • body of uterus

  • myometrium

  • caudate nucleus
    n/a
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • calcium ion binding
  • molecular function
  • cadherin binding
Cellular component
  • integral component of membrane
  • plasma membrane
  • membrane
  • cellular component
Biological process
  • cell adhesion
  • homophilic cell adhesion via plasma membrane adhesion molecules
  • biological process
  • cell-cell adhesion
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

54798

n/a

Ensembl

ENSG00000197410
ENSG00000284227

n/a

UniProt

Q6V1P9

n/a

RefSeq (mRNA)

NM_001142552
NM_001142553
NM_017639
NM_199348
NM_001358235

n/a

RefSeq (protein)

NP_001136024
NP_001345164

n/a

Location (UCSC)Chr 4: 154.23 – 154.49 Mbn/a
PubMed search[2]n/a
Wikidata
View/Edit Human

Protein dachsous homolog 2, also known as protocadherin-23 (PCDH23) or cadherin-27 (CDH27), is a protein that in humans is encoded by the DCHS2 gene.[3][4]

DCHS2 has been implicated in the nose angle (how much a nose is upturned).[5] As well as facial genetics [6][7]

References

  1. ^ a b c ENSG00000284227 GRCh38: Ensembl release 89: ENSG00000197410, ENSG00000284227 – Ensembl, May 2017
  2. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. ^ "Entrez Gene: dachsous 2 (Drosophila)".
  4. ^ Höng JC, Ivanov NV, Hodor P, Xia M, Wei N, Blevins R, Gerhold D, Borodovsky M, Liu Y (March 2004). "Identification of new human cadherin genes using a combination of protein motif search and gene finding methods". J. Mol. Biol. 337 (2): 307–17. doi:10.1016/j.jmb.2004.01.026. PMID 15003449.
  5. ^ Adhikari, Kaustubh; et al. (2016). "A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation". Nature Communications. 7: 11616. Bibcode:2016NatCo...711616A. doi:10.1038/ncomms11616. PMC 4874031. PMID 27193062.
  6. ^ "Facial Genetics: a Brief Overview" (PDF).
  7. ^ "Your nose--Big or small--is shaped by your DNA". Newsweek. 19 May 2016.

Further reading

  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.


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