ARMC9 - armadillo repeat containing 9 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 80210

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 Referencias Source
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
Cellular Component GO Annotation Evidence Referencias 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

Pre-clinical Phase

Bioactive Molecules (1)
Referencia número Nombre del producto
Efecto
Pureza
Rare Diseases
HY-RS01006 ARMC9 Human Pre-designed siRNA Set A Pre-designed Set / 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