Gene Gene information from NCBI Gene database.
Entrez ID 1265
Gene name Calponin 2
Gene symbol CNN2
Synonyms (NCBI Gene)
-
Chromosome 19
Chromosome location 19p13.3
Summary The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several
miRNA miRNA information provided by mirtarbase database.
474
miRTarBase ID miRNA Experiments Reference
MIRT021704 hsa-miR-133a-3p Microarray 21396852
MIRT042725 hsa-miR-346 CLASH 23622248
MIRT037661 hsa-miR-744-5p CLASH 23622248
MIRT479116 hsa-miR-130a-5p PAR-CLIP 23592263
MIRT479115 hsa-miR-23c PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0001725 Component Stress fiber IDA 16236705
GO:0003779 Function Actin binding IEA
GO:0003779 Function Actin binding TAS 8889829
GO:0005516 Function Calmodulin binding IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602373 2156 ENSG00000064666
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q99439
Protein name Calponin-2 (Calponin H2, smooth muscle) (Neutral calponin)
Protein function Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-A
PDB 1WYN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00307 CH 28 133 Calponin homology (CH) domain Domain
PF00402 Calponin 166 190 Calponin family repeat Repeat
PF00402 Calponin 206 230 Calponin family repeat Repeat
PF00402 Calponin 245 268 Calponin family repeat Repeat
Tissue specificity TISSUE SPECIFICITY: Heart and smooth muscle.
Sequence
MSSTQFNKGPSYGLSAEVKNRLLSKYDPQKEAELRTWIEGLTGLSIGPDFQKGLKDGTIL
CTLMNKLQPGSVPKINRSMQNWHQLENLSNFIKAMVSYGMNPVDLFEANDLFESGNMTQV
QVSLLALAGKAKT
KGLQSGVDIGVKYSEKQERNFDDATMKAGQCVIGLQMGTNKCASQSG
MTAYGTRRHL
YDPKNHILPPMDHSTISLQMGTNKCASQVGMTAPGTRRHIYDTKLGTDKC
DNSSMSLQMGYTQGANQSGQVFGLGRQIYDPKYCPQGTVADGAPSGTGDCPDPGEVPEYP
PYYQEEAGY
Sequence length 309
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neutrophil degranulation
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
Pulmonary artery atresia Pathogenic rs78386506, rs77830704 RCV002512183
RCV002512184
★★★★☆
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATROPHIC MACULAR DEGENERATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL CTD
★★☆☆☆
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
Age related macular degeneration Age-related macular degeneration GWASCAT_DG 26691988
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28915602
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 25993294 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 25993294
★☆☆☆☆
Found in Text Mining only
Aortic valve calcification Aortic valve calcification BEFREE 30053524
★☆☆☆☆
Found in Text Mining only
Aortic valve disorder Aortic Valve Disease BEFREE 30053524
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30053524, 31365293
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 27488671
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 30426778 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 30053524, 31365293
★☆☆☆☆
Found in Text Mining only