Gene Gene information from NCBI Gene database.
Entrez ID 342527
Gene name Smoothelin like 2
Gene symbol SMTNL2
Synonyms (NCBI Gene)
-
Chromosome 17
Chromosome location 17p13.2
miRNA miRNA information provided by mirtarbase database.
212
miRTarBase ID miRNA Experiments Reference
MIRT018381 hsa-miR-335-5p Microarray 18185580
MIRT694036 hsa-miR-6771-3p HITS-CLIP 23313552
MIRT694035 hsa-miR-4293 HITS-CLIP 23313552
MIRT672052 hsa-miR-3714 HITS-CLIP 23824327
MIRT672051 hsa-miR-6808-5p HITS-CLIP 23824327
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.
Q2TAL5
Protein name Smoothelin-like protein 2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 351 459 Calponin homology (CH) domain Domain
Sequence
MEPAPDAQEARTVREALGRYEAALEGAVRALHEDMRGLQRGVERRVAEAMRLAGPLARTV
ADLQRDNQRLQAQLERLTRQVEALGLASGMSPVPGTPGTPSPPPAPGVPDRAPRLGSARF
ASHATFSLSGRGQSLDHDEASESEMRKTSNSCIMENGHQPGAGPGDGPPEIAQNFSAPDP
PRPRPVSLSLRLPHQPVTAITRVSDRFSGETSAAALSPMSAATLGGLNPSPSEVITPWTP
SPSEKNSSFTWSVPSSGYGAVTASKHSNSPPLVTPPQSPVSPQPPAITQVHRQGERRREL
VRSQTLPRTSEAQARKALFEKWEQETAAGKGKGEARARLKRSQSFGVASASSIKQILLEW
CRSKTLGYQHVDLQNFSSSWSDGMAFCALVHSFFPDAFDYNSLSPTQRQKNFELAFTMAE
NLANCERLIEVEDMMVMGRKPDPMCVFTYVQSLYNHLRR
FE
Sequence length 461
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
RHEUMATOID ARTHRITIS 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
Rheumatoid Arthritis Rheumatoid arthritis BEFREE 28118524
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis Rheumatoid arthritis GWASCAT_DG 28118524
★★☆☆☆
Found in Text Mining + Unknown/Other Associations