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

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 54535
Gene name Coiled-coil alpha-helical rod protein 1
Gene symbol CCHCR1
Synonyms (NCBI Gene)
C6orf18HCRSBPpg8
Chromosome 6
Chromosome location 6p21.33
Summary 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.
1
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.
20
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 25910212, 27107012, 29892012, 30886144, 32296183, 33961781
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IEA
GO:0005814 Component Centriole IBA
GO:0005814 Component Centriole IDA 23644468
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605310 13930 ENSG00000204536
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (28)
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
AMPHETAMINE OR RELATED ACTING SYMPATHOMIMETIC ABUSE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMPHETAMINE-RELATED DISORDERS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (141)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke BEFREE 30531323, 31058800
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 31415308
★★★★★
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 22218424 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Antisocial Personality Disorder Antisocial Personality Disorder BEFREE 29284378, 30967799, 31096835
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 28505062
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 28505062
★★★★★
★☆☆☆☆
Found in Text Mining only
Apraxia, Developmental Verbal Apraxia BEFREE 29156411
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 22985493 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis, Psoriatic Psoriatic Arthritis BEFREE 17340018
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 20860503
★★★★★
★☆☆☆☆
Found in Text Mining only