2. Gene
  3. ARMC9 - armadillo repeat containing 9 Gene

ARMC9 - armadillo repeat containing 9 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as ARM; NS21; JBTS30; KU-MEL-1

Gene ID: 80210 | Gene type: protein coding

About ARMC9

Cytogenetic location: 2q37.1 Genomic coordinates (GRCh38): 2:231,198,631-231,376,848 (from NCBI)

This gene has 45 transcripts (splice variants), 198 orthologues and is associated with 3 phenotypes. Broad expression in endometrium (RPKM 2.3), ovary (RPKM 1.9) and 22 other tissues.

Summary

Predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30. [provided by Alliance of Genome Resources, Apr 2022]

ARMC9 Products(9)

mRNA Protein Name
NM_001271466.4 NP_001258395.2 lisH domain-containing protein ARMC9 isoform 1
NM_001291656.2 NP_001278585.2 lisH domain-containing protein ARMC9 isoform 2
NM_001352754.2 NP_001339683.2 lisH domain-containing protein ARMC9 isoform 1
NM_001352755.2 NP_001339684.2 lisH domain-containing protein ARMC9 isoform 2
NM_001352756.2 NP_001339685.2 lisH domain-containing protein ARMC9 isoform 2
NM_001352757.2 NP_001339686.2 lisH domain-containing protein ARMC9 isoform 3
NM_001352758.2 NP_001339687.2 lisH domain-containing protein ARMC9 isoform 3
NM_001352759.2 NP_001339688.2 lisH domain-containing protein ARMC9 isoform 4
NM_025139.6 NP_079415.4 lisH domain-containing protein ARMC9 isoform 2
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence Reference Source
located in centriole IDA
IDA: Inferred from direct assay
28625504 GOA
located in ciliary basal body IDA
IDA: Inferred from direct assay
28625504 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

lisH domain-containing protein ARMC9

armadillo repeat-containing protein 9

Related Diseases

Diseases Alias
Joubert Syndrome 30

JBTS30

Joubert Syndrome, Type 30
Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome
Dandy-Walker Syndrome

Dandy-Walker Malformation

DWS

Atresia Of Foramina Of Magendie And Luschka

Dandy-Walker Complex

Dandy-Walker Cyst

Dandy-Walker Deformity

Dandy Walker Cyst

Dw Complex

Dandy-Walker Syndrome Or Malformation

Dandy-Walker Variant

Mega Cisterna Magna

Dwm

Hydrocephalus, Internal, Dandy-Walker Type

Hydrocephalus, Noncommunicating, Dandy-Walker Type

Luschka-Magendie Foramina Atresia

Isolated Dandy-Walker Malformation

Mega-Cisterna Magna

Dandy Walker Variant

Atresia Of Foramen Of Luschka

Atresia Of Foramen Of Magendie

Congenital Blockage Of Foramen Magendie
Macular Degeneration, Age-Related, 8

Age Related Macular Degeneration 8

ARMD8

Macular Degeneration, Age-Related, Type 8
Noonan Syndrome 11

NS11
Noonan Syndrome 12

NS12
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits
Joubert Syndrome 23

JBTS23

Joubert Syndrome, Type 23
Argyll Robertson Pupil

Atypical Argyll-Robertson Pupil

Argyll Robertson Phenomenon Or Pupil, Nonsyphilitic

Argyll Robertson Pupil, Atypical
Abnormal Pupillary Function
Pupil Disease

Pupil Disorders

Pupillary Disorder
Pseudoretinitis Pigmentosa

Secondary Pigmentary Retinal Degeneration

Secondary Pigmentary Degeneration Of Retina
Vogt-Koyanagi-Harada Disease

Uveomeningoencephalitic Syndrome

Uveomenigitic Syndrome

Vogt-Koyanagi-Harada Syndrome

Harada'S Disease

Vogt-Koyanagi Syndrome

Vkh Disease

Vkh Syndrome

Vkh
Bardet-Biedl Syndrome

Bbs

Biedl-Bardet Syndrome
Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas
Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01006 ARMC9 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus ARMC9 VGNC VGNC:59938
Rattus norvegicus ARMC9 RGD RGD:1305615
Bos taurus ARMC9 VGNC VGNC:26163
Macaca mulatta ARMC9 VGNC VGNC:69870
Canis familiaris ARMC9 VGNC VGNC:38129
Mus musculus ARMC9 MGD MGI:1926045