ARMC9

ARMC9
Identifiers
Aliases	ARMC9, ARM, KU-MEL-1, NS21, armadillo repeat containing 9, JBTS30
External IDs	OMIM: 617612; MGI: 1926045; GeneCards: ARMC9
Gene location (Human)
Chr.	Chromosome 2 (human)
End	231,376,848 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	86,206,006 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; secondary oocyte; ; retinal pigment epithelium; ; buccal mucosa cell; ; left adrenal gland; ; left adrenal cortex; ; right adrenal gland; ; right adrenal cortex; ; smooth muscle tissue; ; sural nerve;
	Top expressed in
	spermatocyte; ; interventricular septum; ; spermatid; ; lumbar subsegment of spinal cord; ; seminiferous tubule; ; neural layer of retina; ; superior frontal gyrus; ; primary visual cortex; ; dentate gyrus of hippocampal formation granule cell; ; neural tube;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	protein binding;
Cellular component	extracellular exosome; cytoplasm; cytoskeleton; ciliary basal body; cell projection;
Biological process	cell projection organization; cilium assembly;
	Sources:Amigo / QuickGO
Orthologs
Databases	NCBI: entry; OMA: entry
	80210
	78795
	ENSG00000135931
	ENSMUSG00000062590
	Q7Z3E5
	Q9D2I5
NM_001271466; NM_001291656; NM_025139; NM_001352754; NM_001352755;
	NM_001352756; NM_001352757; NM_001352758; NM_001352759
	NM_027456; NM_030184; NM_001310702
NP_001258395; NP_001278585; NP_079415; NP_001339683; NP_001339684;
	NP_001339685; NP_001339686; NP_001339687; NP_001339688; NP_001278585.1; NP_079415.3
	NP_001297631; NP_081732; NP_084460
	Wikidata
View/Edit Human	View/Edit Mouse

LisH domain-containing protein ARMC9 is a protein that in humans is encoded by the ARMC9 gene. This protein is involved ciliogenesis (the assembly of cilia). It regulates cilia length, and is important for proper acetylation and polyglutamylation of the cilia microtubules.

Medical significance

Pathogenic mutations in ARMC9 are associated with a form of Joubert syndrome designated Joubert syndrome-30 (JBTS30). Those affected showed developmental delays/disability, dysfunction of movement and speech, and other variable symptoms.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000135931 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062590 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.
↑ "Entrez Gene: ARMC9 armadillo repeat containing 9".
1 2 "LisH domain-containing protein ARMC9". UniProt consortium. Retrieved 2026-10-24.
1 2 Kniffin CL (2017-08-15). "JOUBERT SYNDROME 30; JBTS30". OMIM. Johns Hopkins. Retrieved 2026-10-24.

External links

Human ARMC9 genome location and ARMC9 gene details page in the UCSC Genome Browser.

Hartley JL, Temple GF, Brasch MA (2000). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
Wiemann S, Weil B, Wellenreuther R, Gassenhuber J, Glassl S, Ansorge W, Böcher M, Blöcker H, Bauersachs S, Blum H, Lauber J, Düsterhöft A, Beyer A, Köhrer K, Strack N, Mewes HW, Ottenwälder B, Obermaier B, Tampe J, Heubner D, Wambutt R, Korn B, Klein M, Poustka A (2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC 311072. PMID 11230166.
Kiniwa Y, Fujita T, Akada M, Ito K, Shofuda T, Suzuki Y, Yamamoto A, Saida T, Kawakami Y (2001). "Tumor antigens isolated from a patient with vitiligo and T-cell-infiltrated melanoma". Cancer Res. 61 (21): 7900–7. PMID 11691810.
Wiemann S, Arlt D, Huber W, Wellenreuther R, Schleeger S, Mehrle A, Bechtel S, Sauermann M, Korf U, Pepperkok R, Sültmann H, Poustka A (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC 528930. PMID 15489336.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (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.
Mehrle A, Rosenfelder H, Schupp I, del Val C, Arlt D, Hahne F, Bechtel S, Simpson J, Hofmann O, Hide W, Glatting KH, Huber W, Pepperkok R, Poustka A, Wiemann S (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC 1347501. PMID 16381901.

This article on a gene on human chromosome 2 is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000135931 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000062590 – 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.

[pmid11347906-5] Nagase T, Nakayama M, Nakajima D, Kikuno R, Ohara O (2001). "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 8 (2): 85–95. doi:10.1093/dnares/8.2.85. PMID 11347906.

[entrez-6] "Entrez Gene: ARMC9 armadillo repeat containing 9".

[uniprot-7] 1 2 "LisH domain-containing protein ARMC9". UniProt consortium. Retrieved 2026-10-24.

[omim-8] 1 2 Kniffin CL (2017-08-15). "JOUBERT SYNDROME 30; JBTS30". OMIM. Johns Hopkins. Retrieved 2026-10-24.

ARMC9

Medical significance

References

External links

Further reading