Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55612
|
Gene name
Gene Name - the full gene name approved by the HGNC.
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FERM domain containing kindlin 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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FERMT1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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C20orf42, DTGCU2, KIND1, UNC112A, URP1 |
Chromosome
Chromosome number
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20 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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20p12.3 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
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 |
rs146180696 |
C>A |
Pathogenic |
Coding sequence variant, stop gained |
rs748240859 |
G>-,GG |
Pathogenic |
Coding sequence variant, frameshift variant |
rs779612399 |
T>C,G |
Pathogenic |
Missense variant, coding sequence variant, synonymous variant |
rs866141540 |
GT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs869312718 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs869312719 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs869312720 |
CGA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs869312721 |
TGA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
rs869312722 |
T>A,C |
Pathogenic |
5 prime UTR variant |
rs869312723 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs869312724 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs869312725 |
C>T |
Pathogenic |
Splice donor variant |
rs869312726 |
C>T |
Pathogenic |
Splice acceptor variant |
rs869312727 |
A>G |
Pathogenic |
Splice donor variant |
rs869312728 |
C>G,T |
Pathogenic |
Intron variant |
rs869312729 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs869312730 |
A>C,T |
Pathogenic |
Coding sequence variant, stop gained |
rs869312731 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
rs1064793979 |
T>C |
Pathogenic |
Intron variant |
rs1172664527 |
C>T |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1568654138 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1568664492 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
|
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 |
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Sequence length |
677 |
Interactions |
View interactions
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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, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505 View all (89 more) |
|
Carcinoma |
Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
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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, rs397515640, rs397515641, rs142859678, rs797044479, rs577442939, rs672601344, rs568609861, rs1057518846, rs1182196436, rs1567037561 View all (10 more) |
|
Periodontitis |
Periodontitis |
rs28937571, rs104894211, rs587777534 |
|
|
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 |
Colitis Ulcerative |
Associate
|
19762715 |
Colorectal Neoplasms |
Stimulate
|
27776350 |
Ectodermal Dysplasia Skin Fragility Syndrome |
Associate
|
14962093 |
Endometriosis |
Associate
|
33436679 |
Epidermolysis Bullosa |
Associate
|
33921969 |
Glioblastoma |
Associate
|
35456975 |
Glioma |
Associate
|
18492260, 35456975 |
Intestinal Diseases |
Associate
|
19758247 |
Lymphatic Metastasis |
Stimulate
|
25592379 |
Metrorrhagia |
Associate
|
22466645 |
Neoplasm Metastasis |
Associate
|
19723662 |
Neoplasms |
Associate
|
14634021, 25592379, 27776350, 30477537, 31340837, 34814915, 36981005, 38200443 |
Neoplasms Squamous Cell |
Stimulate
|
34814915 |
Pancreatic Neoplasms |
Associate
|
34732125, 36981005 |
Periodontal Diseases |
Associate
|
38506824 |
Photosensitivity Disorders |
Associate
|
14962093 |
Pigmentation Disorders |
Associate
|
22466645 |
Poikiloderma of Kindler |
Associate
|
14634021, 14962093, 16675959, 18528435, 19758247, 19762710, 19762715, 21309038, 21336475, 22327264, 22466645, 23776470, 24346923, 25528446, 26537214, 26827766, 26993041, 27427485, 29168364, 29634879, 30248333, 31340837, 32861675, 36450799, 38506824 View all (10 more) |
Primary Immunodeficiency Diseases |
Associate
|
38644452 |
Rothmund Thomson Syndrome |
Associate
|
14962093 |
Skin Diseases |
Associate
|
22466645, 29130490 |
Skin Neoplasms |
Associate
|
19762715 |
Squamous Cell Carcinoma of Head and Neck |
Associate
|
34814915 |
|