Gene Gene information from NCBI Gene database.
Entrez ID 80213
Gene name TM2 domain containing 3
Gene symbol TM2D3
Synonyms (NCBI Gene)
BLP2
Chromosome 15
Chromosome location 15q26.3
Summary The protein encoded by this gene contains a structural module related to that of the seven transmembrane domain G protein-coupled receptor superfamily. This protein has sequence and structural similarities to the beta-amyloid binding protein (BBP), but, u
miRNA miRNA information provided by mirtarbase database.
182
miRTarBase ID miRNA Experiments Reference
MIRT1427194 hsa-miR-1228 CLIP-seq
MIRT1427195 hsa-miR-127-5p CLIP-seq
MIRT1427196 hsa-miR-27a CLIP-seq
MIRT1427197 hsa-miR-27b CLIP-seq
MIRT1427198 hsa-miR-3074-3p 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:0005886 Component Plasma membrane ISM 27764101
GO:0016020 Component Membrane IEA
GO:0045747 Process Positive regulation of Notch signaling pathway ISS
GO:0046331 Process Lateral inhibition IGI 27764101
GO:0046331 Process Lateral inhibition ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610014 24128 ENSG00000184277
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRN9
Protein name TM2 domain-containing protein 3 (Beta-amyloid-binding protein-like protein 2) (BBP-like protein 2)
Protein function Probable positive regulator of Notch signaling.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05154 TM2 182 231 TM2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:11278849}.
Sequence
MAGGVLPLRGLRALCRVLLFLSQFCILSGGEQSQALAQSIKDPGPTRTFTVVPRAAESTE
IPPYVMKCPSNGLCSRLPADCIDCTTNFSCTYGKPVTFDCAVKPSVTCVDQDFKSQKNFI
INMTCRFCWQLPETDYECTNSTSCMTVSCPRQRYPANCTVRDHVHCLGNRTFPKMLYCNW
TGGYKWSTALALSITLGGFGADRFYLGQWREGLGKLFSFGGLGIWTLIDVLLIGVGYVGP
ADGSLYI
Sequence length 247
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS 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
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 27764101
★☆☆☆☆
Found in Text Mining only
Degenerative polyarthritis Arthritis LHGDN 16642435
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 31836585 Associate
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 26011102, 29446487
★☆☆☆☆
Found in Text Mining only
Osteoarthritis Osteoarthritis Pubtator 16642435 Associate
★☆☆☆☆
Found in Text Mining only