Gene Gene information from NCBI Gene database.
Entrez ID 140902
Gene name R3H domain containing like
Gene symbol R3HDML
Synonyms (NCBI Gene)
dJ881L22.3
Chromosome 20
Chromosome location 20q13.12
miRNA miRNA information provided by mirtarbase database.
25
miRTarBase ID miRNA Experiments Reference
MIRT017398 hsa-miR-335-5p Microarray 18185580
MIRT1280626 hsa-miR-1207-3p CLIP-seq
MIRT1280627 hsa-miR-1252 CLIP-seq
MIRT1280628 hsa-miR-1972 CLIP-seq
MIRT1280629 hsa-miR-3135b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0030414 Function Peptidase inhibitor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3Y0
Protein name Peptidase inhibitor R3HDML (Cysteine-rich secretory protein R3HDML)
Protein function Putative serine protease inhibitor.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00188 CAP 67 207 Cysteine-rich secretory protein family Domain
Sequence
MPLLPSTVGLAGLLFWAGQAVNALIMPNATPAPAQPESTAMRLLSGLEVPRYRRKRHISV
RDMNALLDYHNHIRASVYPPAANMEYMVWDKRLARAAEAWATQCIWAHGPSQLMRYVGQN
LSIHSGQYRSVVDLMKSWSEEKWHYLFPAPRDCNPHCPWRCDGPTCSHYTQMVWASSNRL
GCAIHTCSSISVWGNTWHRAAYLVCNY
AIKGNWIGESPYKMGKPCSSCPPSYQGSCNSNM
CFKGLKSNKFTWF
Sequence length 253
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)
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
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SYMPTOMS OF DEPRESSION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Depressive Disorder Associate 22220189
★☆☆☆☆
Found in Text Mining only
Schizophrenia Associate 22220189
★★☆☆☆
Found in Text Mining + Unknown/Other Associations