ADCY5

Adenylyl cyclase type 5 is an enzyme that in humans is encoded by the ADCY5 gene.[5][6]

ADCY5
Identifiers
AliasesADCY5, AC5, FDFM, adenylate cyclase 5, DSKOD
External IDsOMIM: 600293 MGI: 99673 HomoloGene: 11213 GeneCards: ADCY5
Orthologs
SpeciesHumanMouse
Entrez

111

224129

Ensembl

ENSG00000173175

ENSMUSG00000022840

UniProt

O95622

P84309

RefSeq (mRNA)

NM_001199642
NM_183357
NM_001378259

NM_001012765

RefSeq (protein)

NP_001186571
NP_899200
NP_001365188

NP_001012783

Location (UCSC)Chr 3: 123.28 – 123.45 MbChr 16: 34.98 – 35.13 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Interactions

ADCY5 has been shown to interact with RGS2.[7]

Clinical significance

Mutations in ADCY5 are known to cause the following conditions:[8]

  • Dyskinesia with orofacial involvement, autosomal recessive (DSKOR);
  • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD).

References

  1. GRCh38: Ensembl release 89: ENSG00000173175 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000022840 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Raimundo S, Giray J, Volff JN, Schwab M, Altenbuchner J, Ratge D, Wisser H (October 1999). "Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues". Clin Chim Acta. 285 (1–2): 155–61. doi:10.1016/S0009-8981(99)00067-4. PMID 10481931.
  6. "Entrez Gene: ADCY5 adenylate cyclase 5".
  7. Salim S, Sinnarajah S, Kehrl JH, Dessauer CW (May 2003). "Identification of RGS2 and type V adenylyl cyclase interaction sites". J. Biol. Chem. 278 (18): 15842–9. doi:10.1074/jbc.M210663200. PMID 12604604.
  8. "UniProt". www.uniprot.org. Retrieved 2023-07-04.

Further reading


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