Gene Gene information from NCBI Gene database.
Entrez ID 163882
Gene name Consortin, connexin sorting protein
Gene symbol CNST
Synonyms (NCBI Gene)
C1orf71PPP1R64
Chromosome 1
Chromosome location 1q44
Summary Targeting of numerous transmembrane proteins to the cell surface is thought to depend on their recognition by cargo receptors that interact with the adaptor machinery for anterograde traffic at the distal end of the Golgi complex. Consortin (CNST) is an i
miRNA miRNA information provided by mirtarbase database.
568
miRTarBase ID miRNA Experiments Reference
MIRT437578 hsa-miR-10a-5p MicroarrayqRT-PCR 22815788
MIRT437631 hsa-miR-150-5p MicroarrayqRT-PCR 22815788
MIRT901415 hsa-miR-1 CLIP-seq
MIRT901416 hsa-miR-105 CLIP-seq
MIRT901417 hsa-miR-1185 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19389623, 21044950, 22321011, 25416956, 28514442, 29892012, 31515488, 32814053, 33961781
GO:0005794 Component Golgi apparatus IEA
GO:0005802 Component Trans-Golgi network IBA
GO:0005802 Component Trans-Golgi network IDA 19864490
GO:0005802 Component Trans-Golgi network IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
613439 26486 ENSG00000162852
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PJW8
Protein name Consortin
Protein function Required for targeting of connexins to the plasma membrane.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15281 Consortin_C 612 723 Consortin C-terminus Family
Sequence
MDDSDTPTYYLQIEPQDGCHPGDSVERSVTCLPSASDENENQLDGDGHEHLTSSDSAMGK
PQVSEQDSLNNNESCTLSCEVAAGENLQNTLCEASRDEQAFLGKDKKIPGKRSPRSKKGT
AKKIPPGLFSGDIAPLMQEKVLSAVTYAVDDEEAAEVNANEQPEAPKLVLQSLFSLIRGE
VEQLDSRALPLCLHQIAESYFQEEDYEKAMKFIQLERLYHEQLLANLSAIQEQWETKWKT
VQPHTVTALRNSEKGFNGEDFERLTKICATHQDPLLSKHKIAAVEKSQERKCSTQLLVSE
DPKEGGATTKESESKTCLGTESSKESQHTVEPLGSSPCCHQMDVQTDSPSLSVTAGKDHM
EELLCSAEATLALHTQSSETAGSPSGPDSSEDACEDDSRLQLAQTEACQDVARIEGIAED
PKVFLSSKSKTEPLISPGCDRIPPALISEGKYSQAQRKELRLPLRDASEALPTDQLENNE
LNELQQPDLTDSDGKSPQAQADSDGSENVLCGNNQISDLGILLPEVCMAPEEKGDKDDQL
NKETEDYLNSLLEGCLKDTEDSLSYEDNQDDDSDLLQDLSPEEASYSLQENLPSDESCLS
LDDLAKRIEIAEVVPTEGLVSILKKRNDTVGDHPAQMQHKPSKRRVRFQEIDDSLDQDEV
GGGSCILLVLLCIATVFLSVGGTALYCTFGDMESPVCTDFADNMDFYYTKLLQGVAELKH
WIY
LS
Sequence length 725
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
OSTEOARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THYROID DISEASES CTD, Disgenet
CTD, Disgenet
★★☆☆☆
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
Lymphatic Metastasis Lymphatic metastasis Pubtator 33962616 Associate
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Osteosarcoma Pubtator 33962616 Associate
★☆☆☆☆
Found in Text Mining only
Thyroid Diseases Thyroid Diseases CTD_human_DG 23397585
★★☆☆☆
Found in Text Mining + Unknown/Other Associations