Gene Gene information from NCBI Gene database.
Entrez ID 643236
Gene name Transmembrane protein 72
Gene symbol TMEM72
Synonyms (NCBI Gene)
C10orf127KSP37
Chromosome 10
Chromosome location 10q11.21
Summary This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT720571 hsa-miR-1250-3p HITS-CLIP 19536157
MIRT720570 hsa-miR-153-5p HITS-CLIP 19536157
MIRT720569 hsa-miR-5696 HITS-CLIP 19536157
MIRT720568 hsa-miR-579-3p HITS-CLIP 19536157
MIRT720567 hsa-miR-664b-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IDA 37293153
GO:0005737 Component Cytoplasm IDA 37293153
GO:0005886 Component Plasma membrane IDA 37293153
GO:0016020 Component Membrane 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.
A0PK05
Protein name Transmembrane protein 72 (Kidney-specific secretory protein of 37 kDa)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16054 TMEM72 2 189 Transmembrane protein family 72 Family
Sequence
Sequence length 275
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
PERNICIOUS ANEMIA GWAS catalog
★★☆☆☆
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
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26169495 Associate
★☆☆☆☆
Found in Text Mining only
Down Syndrome Down Syndrome BEFREE 27032399
★☆☆☆☆
Found in Text Mining only
Hemoglobin C Disease Hemoglobin c disease Pubtator 17522242 Associate
★☆☆☆☆
Found in Text Mining only