CCHCR1 (coiled-coil alpha-helical rod protein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54535
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil alpha-helical rod protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CCHCR1
Synonyms (NCBI Gene) Gene synonyms aliases
C6orf18, HCR, SBP, pg8
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.33
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-te
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs746647 A>G Drug-response Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
miRTarBase ID miRNA Experiments Reference
MIRT042719 hsa-miR-346 CLASH 23622248
MIRT040226 hsa-miR-615-3p CLASH 23622248
MIRT870810 hsa-miR-1207-3p CLIP-seq
MIRT870811 hsa-miR-1303 CLIP-seq
MIRT870812 hsa-miR-1915 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 29892012
GO:0005634 Component Nucleus IEA
GO:0005814 Component Centriole IBA 21873635
GO:0005814 Component Centriole IDA 23644468
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605310 13930 ENSG00000204536
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8TD31
Protein name Coiled-coil alpha-helical rod protein 1 (Alpha-helical coiled-coil rod protein) (Putative gene 8 protein) (Pg8)
Protein function May be a regulator of keratinocyte proliferation or differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07111 HCR 27 → 773 Alpha helical coiled-coil rod protein (HCR) Coiled-coil
Tissue specificity TISSUE SPECIFICITY: Found in all tissues tested, abundantly expressed in heart, liver, skeletal muscle, kidney and pancreas, and to a lesser extent in lung and placenta. Overexpressed in keratinocytes of psoriatic lesions.
Sequence
Sequence length 782
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (7)
Causal
Disease term Disease name dbSNP ID References
Behcet syndrome Behcet Syndrome rs886040969, rs886039866, rs746055479, rs752615209, rs774164456, rs751454741 23001997
Diabetes mellitus Diabetes Mellitus, Non-Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)		 30718926
Esophagus neoplasm Squamous cell carcinoma of esophagus rs28934578, rs121918714, rs1567556006, rs1575166666 29379198
Multiple myeloma Multiple Myeloma rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962
View all (38 more)		 27363682
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma 20860503 ClinVar
Ulcerative colitis Ulcerative colitis GWAS
Diabetes Diabetes GWAS
Takayasu Arteritis Takayasu Arteritis GWAS
Show/Hide Text Mining Associations (27)
Associations from Text Mining
Disease Name Relationship Type References
Anodontia Associate 22218424
Arthritis Rheumatoid Associate 22985493
Azoospermia Nonobstructive Associate 30502936
Carcinoma Basal Cell Associate 19551138
Carcinoma Hepatocellular Associate 27614072
Cholangiocarcinoma Associate 31040073
COVID 19 Associate 39344392
Diabetes Mellitus Type 2 Associate 39344392
Inflammatory Bowel Diseases Associate 23830516
Multiple Endocrine Neoplasia Associate 3470797