Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55612
Gene name Gene Name - the full gene name approved by the HGNC.
FERM domain containing kindlin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FERMT1
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf42, DTGCU2, KIND1, UNC112A, URP1
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p12.3
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the fermitin family, and contains a FERM domain and a pleckstrin homology domain. The encoded protein is involved in integrin signaling and linkage of the actin cytoskeleton to the extracellular matrix. Mutations in this gene
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs2232078 C>A,T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs121918292 G>A Pathogenic Stop gained, coding sequence variant
rs121918293 G>A Pathogenic Stop gained, coding sequence variant
rs121918294 G>A,T Pathogenic Stop gained, coding sequence variant, synonymous variant
rs142328166 G>A,T Pathogenic Coding sequence variant, stop gained, synonymous variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021380 hsa-miR-9-5p Microarray 17612493
MIRT024326 hsa-miR-215-5p Microarray 19074876
MIRT026139 hsa-miR-192-5p Microarray 19074876
MIRT045760 hsa-miR-125a-5p CLASH 23622248
MIRT994715 hsa-miR-105 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001954 Process Positive regulation of cell-matrix adhesion IEA
GO:0005178 Function Integrin binding IBA 21873635
GO:0005737 Component Cytoplasm IDA 18528435
GO:0005829 Component Cytosol IDA 17012746
GO:0005856 Component Cytoskeleton IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607900 15889 ENSG00000101311
Protein
UniProt ID Q9BQL6
Protein name Fermitin family homolog 1 (Kindlerin) (Kindlin syndrome protein) (Kindlin-1) (Unc-112-related protein 1)
Protein function Involved in cell adhesion. Contributes to integrin activation. When coexpressed with talin, potentiates activation of ITGA2B. Required for normal keratinocyte proliferation. Required for normal polarization of basal keratinocytes in skin, and fo
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18124 Kindlin_2_N 7 95 Kindlin-2 N-terminal domain Domain
PF00373 FERM_M 279 570 FERM central domain Domain
PF00169 PH 370 473 PH domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, skeletal muscle, kidney, colon, adrenal gland, prostate, and placenta. Weakly or not expressed in heart, thymus, spleen, liver, small intestine, bone marrow, lung and peripheral blood leukocytes. Overexpressed in so
Sequence
MLSSTDFTFASWELVVRVDHPNEEQQKDVTLRVSGDLHVGGVMLKLVEQINISQDWSDFA
LWWEQKHCWLLKTHWTLDKYGVQADAKLLFTPQHK
MLRLRLPNLKMVRLRVSFSAVVFKA
VSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASGSSVSP
GLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSL
VDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAI
LLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKAD
SLLEDITDI
PKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNL
RGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASK
GKTMADS
SYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAH
QNVAQMPLVEAKLRFIQAWQSLPEFGLTYY
LVRFKGSKKDDILGVSYNRLIKIDAATGIP
VTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFLSTRSKDQ
NETLDEDLFHKLTGGQD
Sequence length 677
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anemia Anemia rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966
View all (89 more)
Carcinoma Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 28067908
Palmoplantar keratoderma Keratoderma, Palmoplantar rs59616921, rs1568039793, rs746488412, rs200564757, rs1567027297, rs781596375, rs1567027610, rs398123054, rs398123055, rs398123056, rs398123057, rs398122949, rs398122950, rs397515639, rs398122951
View all (10 more)
Unknown
Disease term Disease name Evidence References Source
Crohn disease Crohn Disease 28067908 ClinVar
Crohn Disease Crohn Disease GWAS
Inflammatory Bowel Disease Inflammatory Bowel Disease GWAS
Associations from Text Mining
Disease Name Relationship Type References
Atrophy Associate 19762710, 19762715, 22466645, 26993041, 29634879
Blister Associate 19758247, 19762710, 26993041
Breast Neoplasms Associate 19723662, 30477537
Carcinoma Hepatocellular Associate 25592379
Carcinoma Non Small Cell Lung Stimulate 33934696
Carcinoma Non Small Cell Lung Associate 38200443
Carcinoma Pancreatic Ductal Associate 38308339
Carcinoma Squamous Cell Associate 31340837
Cholangitis Sclerosing Associate 29634879
Colitis Associate 29634879