FERMT3 (FERM domain containing kindlin 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83706
Gene name Gene Name - the full gene name approved by the HGNC.
FERM domain containing kindlin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FERMT3
Synonyms (NCBI Gene) Gene synonyms aliases
KIND3, MIG-2, MIG2B, UNC112C, URP2, URP2SF
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
Kindlins are a small family of proteins that mediate protein-protein interactions involved in integrin activation and thereby have a role in cell adhesion, migration, differentiation, and proliferation. The protein encoded by this gene has a key role in t
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs121918295 C>T Pathogenic Coding sequence variant, stop gained
rs121918296 G>A Pathogenic Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs121918297 C>T Pathogenic Coding sequence variant, stop gained
rs121918298 G>A Pathogenic Coding sequence variant, stop gained
rs142774418 C>A,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(9)
miRTarBase ID miRNA Experiments Reference
MIRT733512 hsa-miR-4792 Luciferase reporter assay, Western blotting, qRT-PCR 32183929
MIRT994876 hsa-miR-3689a-3p CLIP-seq
MIRT994877 hsa-miR-3689c CLIP-seq
MIRT994878 hsa-miR-4504 CLIP-seq
MIRT994879 hsa-miR-4687-3p CLIP-seq
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(35)
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome IEA
GO:0002102 Component Podosome ISS
GO:0005178 Function Integrin binding IBA
GO:0005178 Function Integrin binding IEA
GO:0005178 Function Integrin binding ISS
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
607901 23151 ENSG00000149781
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q86UX7
Protein name Fermitin family homolog 3 (Kindlin-3) (MIG2-like protein) (Unc-112-related protein 2)
Protein function Plays a central role in cell adhesion in hematopoietic cells (PubMed:19234463, PubMed:26359933). Acts by activating the integrin beta-1-3 (ITGB1, ITGB2 and ITGB3) (By similarity). Required for integrin-mediated platelet adhesion and leukocyte ad
PDB 2YS3 , 6V97 , 6V9G , 7C3M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18124 Kindlin_2_N 11 → 98 Kindlin-2 N-terminal domain Domain
PF00373 FERM_M 258 → 558 FERM central domain Domain
PF00169 PH 355 → 457 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in lymph node. Expressed in thymus, spleen and leukocytes. Weakly expressed in placenta, small intestine, stomach, testis and lung. Overexpressed in B-cell malignancies. {ECO:0000269|PubMed:12697302, ECO:0000269|PubMed
Sequence 
MAGMKTASGDYIDSSWELRVFVGEEDPEAESVTLRVTGESHIGGVLLKIVEQINRKQDWS
DHAIWWEQKRQWLLQTHWTLDKYGILADARLFFGPQHRPVILRLPNRRALRLRASFSQPL
FQAVAAICRLLSIRHPEELSLLRAPEKKEKKKKEKEPEEELYDLSKVVLAGGVAPALFRG
MPAHFSDSAQTEACYHMLSRPQPPPDPLLLQRLPRPSSLSDKTQLHSRWLDSSRCLMQQG
IKAGDALWLRFKYYSFFDLDPKTDPVRLTQLYEQARWDLLLEEIDCTEEEMMVFAALQYH
INKLSQSGEVGEPAGTDPGLDDLDVALSNLEVKLEGSAPTDVLDSLTTIPELKDHLRIFR
IPRRPRKLTLKGYRQHWVVFKETTLSYYKSQDEAPGDPIQQLNLKGCEVVPDVNVSGQKF
CIKLLVPSPEGMSEIYLRCQDEQQYARWMAGCRLASKGRTMADSSYTSEVQAILAFLSLQ
RTGSGGPGNHPHGPDASAEGLNPYGLVAPRFQRKFKAKQLTPRILEAHQNVAQLSLAEAQ
LRFIQAWQSLPDFGISYVMVRFKGSRKDEILGIANNRLIRIDLAVGDVVKTWRFSNMRQW
NVNWDIRQVAIEFDEHINVAFSCVSASCRIVHEYIGGYIFLSTRERARGEELDEDLFLQL
TGGHEAF
Sequence length 667
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
  KEGG   Reactome
  Platelet activation   Platelet degranulation
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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 Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Leukocyte adhesion deficiency Leukocyte adhesion deficiency 3 rs121918298, rs121918295, rs775138431, rs1286499329, rs1591028090, rs1591037806, rs1591038507, rs2134903776, rs121918296, rs121918297 N/A
leukocyte adhesion deficiency Leukocyte adhesion deficiency rs121918296 N/A
Show/Hide Unknown Diseases (4)
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
Attention Deficit Hyperactivity Disorder Attention deficit hyperactivity disorder N/A N/A GWAS
Hidradenitis suppurativa Hidradenitis suppurativa N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Uterine Fibroids Uterine fibroids N/A N/A GWAS
Show/Hide Text Mining Associations (34)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Gouty Associate 39511617
Bernard Soulier Syndrome Associate 29242293
Blood Platelet Disorders Associate 29242293, 33391282
Carcinogenesis Associate 18722108
Carcinoma Non Small Cell Lung Associate 33934696
Carcinoma Renal Cell Associate 39871215
Carotid Stenosis Associate 36304068
Chondroma Associate 18722108
Chondrosarcoma Associate 18722108
Disease Inhibit 23437269