CIMAP2 (ciliary microtubule associated protein 2)

Gene Gene information from NCBI Gene database.
Gene Other IDs Protein Associated diseases
Entrez ID 163747
Gene name Ciliary microtubule associated protein 2
Gene symbol CIMAP2
Synonyms (NCBI Gene)
C1orf177LEMLEXM
Chromosome 1
Chromosome location 1p32.3
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616446 26854 ENSG00000162398
Protein Protein information from UniProt database.
Gene Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3ZCV2
Protein name Ciliary microtubule-associated protein 2 (Lymphocyte expansion molecule)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Sperm. {ECO:0000269|PubMed:27444420}.
Sequence 
MRESQDAAGAHGWNRVGSTATKWFTGAPFGVQSHRFDISAVYPNWKKFSTFTEAPYSTRY
STQVSHIGPGTYSSKETCFSKKKLMKEVDTGWAKAQEATRLTQLPHFQYQAIMKEKRLKE
QKLGPGSYNLKDFLEQLREKPCSTRGLLSSGEVRFRGLTGNYYPGPGNYGEKGNPYTKLE
ENAWNRSHSEGLMCRMSNKPHPRPHQGSGLGPGTYFFKSDLETYVARSVGTRGPYDTFSG
DRSKPLPYGHYSMQKKKPRELMNFKSFVEELNSHHNKKHGVFSKLPRNPKTPTERIYWAN
LSQCPRTLATSGPSFWLPQEKKCKPVNQPPFLLTSKGSGAKACQMIMGSWNPVGVGRYLN
TWLMETKDRRQRYRSLFLSGSKRYLSDLARDMLMQERITPFTKGKCPPTVDYNSDPTP
Sequence length 418
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene 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 (2)
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
COLORECTAL CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HAND — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (6)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
leukemia Leukemia BEFREE 18400857
★★★★★
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 29247536
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 24563347
★★★★★
★☆☆☆☆
Found in Text Mining only
Muscular Dystrophy, Emery-Dreifuss Emery-Dreifuss Muscular Dystrophy BEFREE 12684533
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 35650630 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Triglyceride storage disease with ichthyosis Triglyceride Storage Disease With Ichthyosis BEFREE 28505552, 29161578
★★★★★
★☆☆☆☆
Found in Text Mining only