FERMT3 (FERM domain containing kindlin 3)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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83706 |
Gene nameGene Name - the full gene name approved by the HGNC.
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FERM domain containing kindlin 3 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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FERMT3 |
SynonymsGene synonyms aliases
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KIND3, MIG-2, MIG2B, UNC112C, URP2, URP2SF |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
rs148021416 |
G>A,C |
Conflicting-interpretations-of-pathogenicity |
Synonymous variant, missense variant, coding sequence variant |
rs149000560 |
G>A |
Benign, conflicting-interpretations-of-pathogenicity |
Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant |
rs775138431 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1286499329 |
A>C,G |
Pathogenic |
Splice acceptor variant |
rs1591028090 |
AA>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1591037806 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1591038507 |
T>C |
Pathogenic |
Splice donor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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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 |
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Sequence |
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Sequence length |
667 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
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 |
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Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder |
rs120074176, rs786205019 |
21784300 |
Leukocyte adhesion deficiency |
Leukocyte adhesion deficiency type 1, Leukocyte Adhesion Deficiency, Type III, Leukocyte adhesion deficiency type III |
rs2134903776, rs121918296, rs121918297, rs121918298, rs121918295, rs28939087, rs28937886, rs137852609, rs137852610, rs137852611, rs137852612, rs387906411, rs137852613, rs137852614, rs137852615, rs137852616, rs137852617, rs137852618, rs775138431, rs1286499329, rs179363873, rs398124345, rs483352816, rs483352817, rs483352818, rs483352819, rs483352813, rs483352814, rs483352815, rs201752283, rs748574145, rs1131691763, rs766512058, rs1568879914, rs772471533, rs1568883795, rs148877937, rs1591028090, rs1591037806, rs1601302490, rs1591038507, rs2085872592, rs2083735130 |
26729028, 20216991, 18709451, 19064721, 18278053, 18779414, 19617577, 26359933, 19234460, 19234461, 19234463, 21441448, 22139635, 16876785, 26729028 |
Osteopetrosis |
Osteopetrosis, Osteopetrosis Autosomal Dominant Type 2 |
rs786205055, rs1562370077, rs119460973, rs1554996130, rs137853149, rs751881962, rs137853150, rs137853151, rs2134438856, rs121908669, rs121908670, rs121908671, rs121908673, rs121908655, rs121908656, rs121908658, rs121908659, rs121434432, rs121434433, rs121434434, rs121434435, rs121434436, rs2137905441, rs121909072, rs863223288, rs398123011, rs387907576, rs397515539, rs267603829, rs587777490, rs139617644, rs794727287, rs573750741, rs886048594, rs777785526, rs1057517365, rs760956030, rs757788894, rs1554250938, rs367567630, rs1208311085, rs1554995350, rs1554995341, rs774308815, rs1458295257, rs1554997884, rs200851583, rs1554998061, rs758977199, rs1554999516, rs371263807, rs1475338876, rs917505107, rs1554995381, rs1554995582, rs1554995706, rs1554997818, rs1554997997, rs748659068, rs377303800, rs1554995009, rs1554999205, rs1300297240, rs1554995330, rs1385741705, rs1554995522, rs1392364437, rs749361897, rs1159666762, rs1269558164, rs1489993984, rs1439348400, rs559224144, rs1567759023, rs1567263375, rs1565156743, rs1590817956, rs1590819834, rs377215024, rs1582396088, rs1353879401, rs1590804397, rs1590819770, rs922106856, rs776436008, rs1855347940, rs761918801, rs1064794323 |
18278053 |
Platelet-type bleeding disorder |
Blood Platelet Disorders |
rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972, rs572295823, rs550565800, rs869320714, rs869320716, rs757188030, rs1057518838, rs1057518837, rs148051111, rs1555122100, rs1554724694, rs755459581, rs752492512, rs1592371840, rs747559032, rs778608263, rs148910227, rs3211901, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs551607784, rs774996406, rs200434813 |
18278053 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital osteopetrosis |
Congenital Osteopetrosis |
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18278053 |
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