CEMIP (cell migration inducing hyaluronidase 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57214
Gene name Gene Name - the full gene name approved by the HGNC.
Cell migration inducing hyaluronidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CEMIP
Synonyms (NCBI Gene) Gene synonyms aliases
CCSP1, CEMIP1, HYBID, KIAA1199, TMEM2L
Chromosome Chromosome number
15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
15q25.1
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs151273972 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT754809 hsa-miR-383-5p PAR-CLIP 23708386
MIRT754810 hsa-miR-1324 PAR-CLIP 23708386
MIRT754811 hsa-miR-4691-3p PAR-CLIP 23708386
MIRT754812 hsa-miR-3157-5p PAR-CLIP 23708386
MIRT754813 hsa-miR-1208 PAR-CLIP 23708386
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
GO ID Ontology Definition Evidence Reference
GO:0001650 Component Fibrillar center IDA
GO:0004415 Function Hyalurononglucosaminidase activity IEA
GO:0004415 Function Hyalurononglucosaminidase activity IMP 23509262
GO:0004415 Function Hyalurononglucosaminidase activity TAS
GO:0005515 Function Protein binding IPI 23990668, 25051373
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608366 29213 ENSG00000103888
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q8WUJ3
Protein name Cell migration-inducing and hyaluronan-binding protein (EC 3.2.1.35) (Hyaluronan binding protein involved in hyaluronan depolymerization)
Protein function Mediates depolymerization of hyaluronic acid (HA) via the cell membrane-associated clathrin-coated pit endocytic pathway. Binds to hyaluronic acid. Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product, a proc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10162 G8 45 → 165 G8 domain Domain
PF15711 ILEI 187 → 277 Interleukin-like EMT inducer Domain
PF13330 Mucin2_WxxW 325 → 403 Mucin-2 protein WxxW repeating region Family
PF15711 ILEI 1244 → 1330 Interleukin-like EMT inducer Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in dermal and in synovial fibroblasts. Strongly expressed in gastric cancers compared with the paired normal tissues. Strongly expressed in both ductal carcinoma and invasive breast cancer cells compared with benign epithelia
Sequence 
MGAAGRQDFLFKAMLTISWLTLTCFPGATSTVAAGCPDQSPELQPWNPGHDQDHHVHIGQ
GKTLLLTSSATVYSIHISEGGKLVIKDHDEPIVLRTRHILIDNGGELHAGSALCPFQGNF
TIILYGRADEGIQPDPYYGLKYIGVGKGGALELHGQKKLSWTFLNKTLHPGGMAEGGYFF
ERSWGHRGVIVHVIDPKSGTVIHSDRFDTYRSKKESERLVQYLNAVPDGRILSVAVNDEG
SRNLDDMARKAMTKLGSKHFLHLGFRHPWSFLTVKGNPSSSVEDHIEYHGHRGSAAARVF
KLFQTEHGEYFNVSLSSEWVQDVEWTEWFDHDKVSQTKGGEKISDLWKAHPGKICNRPID
IQATTMDGVNLSTEVVYKKGQDYRFACYDRGRACRSYRVRFLCGKPVRPKLTVTIDTNVN
STILNLEDNVQSWKPGDTLVIASTDYSMYQAEEFQVLPCRSCAPNQVKVAGKPMYLHIGE
EIDGVDMRAEVGLLSRNIIVMGEMEDKCYPYRNHICNFFDFDTFGGHIKFALGFKAAHLE
GTELKHMGQQLVGQYPIHFHLAGDVDERGGYDPPTYIRDLSIHHTFSRCVTVHGSNGLLI
KDVVGYNSLGHCFFTEDGPEERNTFDHCLGLLVKSGTLLPSDRDSKMCKMITEDSYPGYI
PKPRQDCNAVSTFWMANPNNNLINCAAAGSEETGFWFIFHHVPTGPSVGMYSPGYSEHIP
LGKFYNNRAHSNYRAGMIIDNGVKTTEASAKDKRPFLSIISARYSPHQDADPLKPREPAI
IRHFIAYKNQDHGAWLRGGDVWLDSCRFADNGIGLTLASGGTFPYDDGSKQEIKNSLFVG
ESGNVGTEMMDNRIWGPGGLDHSGRTLPIGQNFPIRGIQLYDGPINIQNCTFRKFVALEG
RHTSALAFRLNNAWQSCPHNNVTGIAFEDVPITSRVFFGEPGPWFNQLDMDGDKTSVFHD
VDGSVSEYPGSYLTKNDNWLVRHPDCINVPDWRGAICSGCYAQMYIQAYKTSNLRMKIIK
NDFPSHPLYLEGALTRSTHYQQYQPVVTLQKGYTIHWDQTAPAELAIWLINFNKGDWIRV
GLCYPRGTTFSILSDVHNRLLKQTSKTGVFVRTLQMDKVEQSYPGRSHYYWDEDSGLLFL
KLKAQNEREKFAFCSMKGCERIKIKALIPKNAGVSDCTATAYPKFTERAVVDVPMPKKLF
GSQLKTKDHFLEVKMESSKQHFFHLWNDFAYIEVDGKKYPSSEDGIQVVVIDGNQGRVVS
HTSFRNSILQGIPWQLFNYVATIPDNSIVLMASKGRYVSRGPWTRVLEKLGADRGLKLKE
QMAFVGFKGSFRPIWVTLDTEDHKAKIFQVVPIPVVKKKKL
Sequence length 1361
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Hyaluronan biosynthesis and export
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer specific mortality in estrogen receptor positive breast cancer N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (51)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Stimulate 21772334
Adenocarcinoma of Lung Associate 36419650
Adenoma Stimulate 18171984, 22276102
Adenoma Associate 20087348, 28058013
Arthritis Psoriatic Associate 26518873, 29935163
Arthritis Rheumatoid Stimulate 26022278
Arthritis Rheumatoid Associate 26191188
Breast Neoplasms Associate 22970280, 35177031, 35370456, 39340434
Carcinogenesis Associate 30925458, 36419650
Carcinoma Hepatocellular Associate 33327261, 36639658