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Gene Gene information from NCBI Gene database.
Entrez ID 387694
Gene name SH2 domain containing 4B
Gene symbol SH2D4B
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q23.1
miRNA miRNA information provided by mirtarbase database.
42 Show/Hide all (42)
miRTarBase ID miRNA Experiments Reference
MIRT1344301 hsa-miR-1245b-3p CLIP-seq
MIRT1344302 hsa-miR-1283 CLIP-seq
MIRT1344303 hsa-miR-1286 CLIP-seq
MIRT1344304 hsa-miR-4436a CLIP-seq
MIRT1344305 hsa-miR-4712-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5SQS7
Protein name SH2 domain-containing protein 4B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 325 → 400 SH2 domain Domain
Sequence
MLQQILHDMYIDPELLAELSDVQKHILFYKMREEQLRRWKERETWEALAQDEGLRPPKTK
RASDKHIQWLLGADGEVWVWIMGEGPGDKPYEEISEELIAERARLQAQREAEELWRQKEA
EITKKFRDALANEKARILAEKWKVEMEDRKAAKVLEERIHEEFKRKEEEERKRGEEQIRL
QEEQRAKELYWTLKQAQLHCQASEKEEREWEEQLRRSKAADEERSRRAQRARDEYRHHSL
RAIQKGTVAGLSSMFRELGQSHEQEARLYHHLPDPGLPQPLALPVRTWERPLRPVSRDVI
VRWFKEEQLPRRAGFERNTKFIAPWFHGIISREDAEALLENMTEGAFLVRVSEKIWGYTL
SYRLQKGFKHFLVDASGDFYSFLGVDPNRHATLTDLVDFH
KEEIITVSGGELLQEPCGQR
DSPPDYHLLFE
Sequence length 431
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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)
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 Reference Evidence Score
ALZHEIMER DISEASE — GWAS catalog 25778476
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA — GWAS catalog 28935272
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA — GWAS catalog 28935272
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 25778476
★★★★★
★☆☆☆☆
Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1C (disorder) Cardiomyopathy BEFREE 18197198
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholecystolithiasis Cholecystolithiasis GWASDB_DG 17632509
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholelithiasis Cholelithiasis GWASDB_DG 17632509
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 31488414 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Ewings sarcoma Ewing sarcoma BEFREE 9000139
★★★★★
★☆☆☆☆
Found in Text Mining only
ovarian neoplasm Ovarian neoplasm GWASCAT_DG 28935272
★★★★★
★☆☆☆☆
Found in Text Mining only