ARMC12 (armadillo repeat containing 12)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 221481
Gene name Armadillo repeat containing 12
Gene symbol ARMC12
Synonyms (NCBI Gene)
C6orf81SPGF90
Chromosome 6
Chromosome location 6p21.31
miRNA miRNA information provided by mirtarbase database.
53
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (53)
miRTarBase ID miRNA Experiments Reference
MIRT018328 hsa-miR-335-5p Microarray 18185580
MIRT717288 hsa-miR-4728-3p HITS-CLIP 19536157
MIRT717287 hsa-miR-500b-3p HITS-CLIP 19536157
MIRT568477 hsa-miR-15a-5p PAR-CLIP 20371350
MIRT568476 hsa-miR-15b-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 30026490, 32296183
GO:0005634 Component Nucleus HDA 21630459
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 30026490
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620377 21099 ENSG00000157343
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T9G4
Protein name Armadillo repeat-containing protein 12
Protein function Essential for male fertility and sperm mitochondrial sheath formation (By similarity). Required for proper mitochondrial elongation and coiling along the flagellum during the formation of the mitochondrial sheath (By similarity). Facilitates the
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04826 Arm_2 60 → 313 Armadillo-like Family
Tissue specificity TISSUE SPECIFICITY: Expressed in testis (PubMed:33536340, PubMed:35534203). Highly expressed in the mid-piece of the elongated and late spermatids (PubMed:35534203). Expressed at higher levels in neuroblastoma tissues and cell lines, than those of normal
Sequence
Sequence length 340
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spermatogenic failure 90 Pathogenic rs776728534, rs200319789, rs200749169 RCV003883479
RCV003883480
RCV003883481
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (4)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO LARGE-HEADED MULTIFLAGELLAR POLYPLOID SPERMATOZOA — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY WITH LARGE-HEADED, MULTIFLAGELLAR, POLYPLOID SPERMATOZOA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Prostate cancer Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Neoplasms Neoplasms BEFREE 30026490
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 30026490
★★★★★
★☆☆☆☆
Found in Text Mining only