Gene Gene information from NCBI Gene database.
Entrez ID 84065
Gene name Transmembrane protein 222
Gene symbol TMEM222
Synonyms (NCBI Gene)
C1orf160NEDMOSBA
Chromosome 1
Chromosome location 1p36.11
miRNA miRNA information provided by mirtarbase database.
308
miRTarBase ID miRNA Experiments Reference
MIRT439432 hsa-miR-218-5p HITS-CLIP 23212916
MIRT439432 hsa-miR-218-5p HITS-CLIP 23212916
MIRT1435602 hsa-miR-1207-5p CLIP-seq
MIRT1435603 hsa-miR-125a-5p CLIP-seq
MIRT1435604 hsa-miR-125b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0016020 Component Membrane IEA
GO:0030425 Component Dendrite IDA 33824500
GO:0030425 Component Dendrite IEA
GO:0042995 Component Cell projection IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619469 25363 ENSG00000186501
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0R3
Protein name Transmembrane protein 222
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05608 DUF778 61 118 Protein of unknown function (DUF778) Family
PF05608 DUF778 111 178 Protein of unknown function (DUF778) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. The highest expression is observed in the brain. {ECO:0000269|PubMed:33824500}.
Sequence
MAEAEGSSLLLLPPPPPPPRMAEVEAPTAAETDMKQYQGSGGVAMDVERSRFPYCVVWTP
IPVLTWFFPIIGHMGICTSTGVIRDFAGPYFVSEDNMAFGKPAKYWKLDPAQVYASGPNA
WDTAVHDASEEYKHRMHNLCCDNCHSHVALALNLMRYNNSTNWNMVTLCFFCLLYGKY
VS
VGAFVKTWLPFILLLGIILTVSLVFNLR
Sequence length 208
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities Pathogenic rs2148019133, rs757750599, rs2148019138, rs2148016438, rs774049520 RCV001559137
RCV001559138
RCV001559139
RCV001559140
RCV001559141
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TMEM222-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Developmental Disabilities Developmental disability Pubtator 33824500 Associate
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Intellectual developmental disorder Pubtator 33824500 Associate
★☆☆☆☆
Found in Text Mining only
Tremor Tremor Pubtator 33824500 Associate
★☆☆☆☆
Found in Text Mining only