SHF (Src homology 2 domain containing F)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 90525
Gene name Src homology 2 domain containing F
Gene symbol SHF
Synonyms (NCBI Gene)
-
Chromosome 15
Chromosome location 15q21.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
3
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
GO ID Ontology Definition Evidence Reference
GO:0001784 Function Phosphotyrosine residue binding IBA
GO:0006915 Process Apoptotic process IEA
GO:0007165 Process Signal transduction IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617313 25116 ENSG00000138606
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7M4L6
Protein name SH2 domain-containing adapter protein F
Protein function Adapter protein which may play a role in the regulation of apoptosis in response to PDGF.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 323 → 399 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in skeletal muscle, brain, liver, prostate, testis, ovary, small intestine and colon. {ECO:0000269|PubMed:11095946}.
Sequence 
MQQEGGPVRSAPCRTGTLEGSRQGSPGHRKRASPKGSLSSAQPHSWMLTPSPLNSHCAHR
EPISSSPQPVANGPKQKKKSNWRSTTRLRIIRLRDRLEPRPLAILEDYADPFDVQETGEG
SAGASGAPEKVPENDGYMEPYEAQKMMAEIRGSKETATQPLPLYDTPYEPEEDGATAEGE
GAPWPRESRLPEDDERPPEEYDQPWEWKKERISKAFAVDIKVIKDLPWPPPVGQLDSSPS
LPDGDRDISGPASPLPEPSLEDSSAQFEGPEKSCLSPGREEKGRLPPRLSAGNPKSAKPL
SMEPSSPLGEWTDPALPLENQVWYHGAISRTDAENLLRLCKEASYLVRNSETSKNDFSLS
LKSSQGFMHMKLSRTKEHKYVLGQNSPPFSSVPEIVHHYASRKLPIKGAEHMSLLYPVAI
RTL
Sequence length 423
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene 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 (1)
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
ATYPICAL FEMORAL FRACTURE — 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
Breast Neoplasms Breast neoplasm Pubtator 27993161 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35843865 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Loeys-Dietz Syndrome Loeys-Dietz Syndrome BEFREE 30614814
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Neoplasms BEFREE 23360421
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 23360421
★★★★★
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 23360421 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only