GediPNet logo

FERMT3 (FERM domain containing kindlin 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83706
Gene nameGene Name - the full gene name approved by the HGNC.
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.
FERMT3
SynonymsGene synonyms aliases
KIND3, MIG-2, MIG2B, UNC112C, URP2, URP2SF
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
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
miRNAmiRNA information provided by mirtarbase database.
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.
GO ID Ontology Definition Evidence Reference
GO:0002102 Component Podosome ISS
GO:0002576 Process Platelet degranulation TAS
GO:0005178 Function Integrin binding IBA 21873635
GO:0005178 Function Integrin binding ISS
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
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
Sequence
MAGMKTASGDYIDSSWELRVFVGEEDPEAESVTLRVTGESHIGGVLLKIVEQINRKQDWS
DHAIWWEQKRQWLLQTHWTLDKYGILADARLFFGPQHR
PVILRLPNRRALRLRASFSQPL
FQAVAAICRLLSIRHPEELSLLRAPEKKEKKKKEKEPEEELYDLSKVVLAGGVAPALFRG
MPAHFSDSAQTEACYHMLSRPQPPPDPLLLQRLPRPSSLSDKTQLHSRWLDSSRCLMQQG
IKAGDALWLRFKYYSFFDLDPKTDPVRLTQLYEQARWDLLLEEIDCTEEEMMVFAALQYH
INKLSQSGEVGEPAGTDPGLDDLDVALSNLEVKLEGSAPTDVLDSLTTIPELKD
HLRIFR
IPRRPRKLTLKGYRQHWVVFKETTLSYYKSQDEAPGDPIQQLNLKGCEVVPDVNVSGQKF
CIKLLVPSPEGMSEIYLRCQDEQQYARWMAGCRLASK
GRTMADSSYTSEVQAILAFLSLQ
RTGSGGPGNHPHGPDASAEGLNPYGLVAPRFQRKFKAKQLTPRILEAHQNVAQLSLAEAQ
LRFIQAWQSLPDFGISYV
MVRFKGSRKDEILGIANNRLIRIDLAVGDVVKTWRFSNMRQW
NVNWDIRQVAIEFDEHINVAFSCVSASCRIVHEYIGGYIFLSTRERARGEELDEDLFLQL
TGGHEAF
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.
 
KEGG
 
Reactome
  Platelet activation   Platelet degranulation
Associated diseases
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
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
Unknown
Disease name Disease term dbSNP ID References
Congenital osteopetrosis Congenital Osteopetrosis 18278053

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412