Gene Gene information from NCBI Gene database.
Entrez ID 29970
Gene name Schwannomin interacting protein 1
Gene symbol SCHIP1
Synonyms (NCBI Gene)
SCHIP-1
Chromosome 3
Chromosome location 3q25.32-q25.33
miRNA miRNA information provided by mirtarbase database.
64
miRTarBase ID miRNA Experiments Reference
MIRT027531 hsa-miR-98-5p Microarray 19088304
MIRT1329358 hsa-miR-181a CLIP-seq
MIRT1329359 hsa-miR-181b CLIP-seq
MIRT1329360 hsa-miR-181c CLIP-seq
MIRT1329361 hsa-miR-181d CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20195357, 25950943, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IBA
GO:0030054 Component Cell junction IBA
GO:0035332 Process Positive regulation of hippo signaling IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619206 15678 ENSG00000151967
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DPB3
Protein name Schwannomin-interacting protein 1 (SCHIP-1)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10148 SCHIP-1 255 484 Schwannomin-interacting protein 1 Family
Tissue specificity TISSUE SPECIFICITY: Preferentially expressed in brain, skeletal muscles and heart. Also expressed in detected in pancreas, kidney, liver, lung, and placenta. {ECO:0000269|PubMed:10669747}.
Sequence
MERSGQRVTTWDCDQGKHSDSDYREDGMDLGSDAGSSSSSSRASSQSNSTKVTPCSECKS
SSSPGGSLDLVSALEDYEEPFPVYQKKVIDEWAPEEDGEEEEEEDERDQRGYRDDRSPAR
EPGDVSARTRSGGGGGRSATTAMPPPVPNGNLHQHDPQDLRHNGNVVVAGRPSCSRGPRR
AIQKPQPAGGRRSGRGPAAGGLCLQPPDGGTCVPEEPPVPPMDWEALEKHLAGLQFREQE
VRNQGQARTNSTSAQKNERESIRQKLALGSFFDDGPGIYTSCSKSGKPSLSSRLQSGMNL
QICFVNDSGSDKDSDADDSKTETSLDTPLSPMSKQSSSYSDRDTTEEESESLDDMDFLTR
QKKLQAEAKMALAMAKPMAKMQVEVEKQNRKKSPVADLLPHMPHISECLMKRSLKPTDLR
DMTIGQLQVIVNDLHSQIESLNEELVQLLLIRDELHTEQDAMLVDIEDLTRHAESQQKHM
AEKM
PAK
Sequence length 487
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Familial meningioma Likely pathogenic rs1423496206 RCV003988764
★★★★☆
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
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Carcinoma Renal Cell Associate 23887297
★☆☆☆☆
Found in Text Mining only
Celiac Disease Associate 27175695
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 37535601
★☆☆☆☆
Found in Text Mining only
Disease Associate 25052311
★☆☆☆☆
Found in Text Mining only