Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55612
Gene name	FERM domain containing kindlin 1
Gene symbol	FERMT1
Synonyms (NCBI Gene)	C20orf42DTGCU2KIND1UNC112AURP1
Chromosome	20
Chromosome location	20p12.3
Summary	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

Show/Hide all (27)

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

153

Show/Hide all (153)

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
MIRT994716	hsa-miR-1179	CLIP-seq
MIRT994717	hsa-miR-1207-5p	CLIP-seq
MIRT994718	hsa-miR-1254	CLIP-seq
MIRT994719	hsa-miR-125b	CLIP-seq
MIRT994720	hsa-miR-1298	CLIP-seq
MIRT994721	hsa-miR-3074-5p	CLIP-seq
MIRT994722	hsa-miR-3116	CLIP-seq
MIRT994723	hsa-miR-3117-3p	CLIP-seq
MIRT994724	hsa-miR-3148	CLIP-seq
MIRT994725	hsa-miR-3169	CLIP-seq
MIRT994726	hsa-miR-3188	CLIP-seq
MIRT994727	hsa-miR-3192	CLIP-seq
MIRT994728	hsa-miR-3656	CLIP-seq
MIRT994729	hsa-miR-3662	CLIP-seq
MIRT994730	hsa-miR-3688-3p	CLIP-seq
MIRT994731	hsa-miR-3689a-3p	CLIP-seq
MIRT994732	hsa-miR-3689c	CLIP-seq
MIRT994733	hsa-miR-3922-5p	CLIP-seq
MIRT994734	hsa-miR-4251	CLIP-seq
MIRT994735	hsa-miR-4259	CLIP-seq
MIRT994736	hsa-miR-4287	CLIP-seq
MIRT994737	hsa-miR-4319	CLIP-seq
MIRT994738	hsa-miR-4421	CLIP-seq
MIRT994739	hsa-miR-4433	CLIP-seq
MIRT994740	hsa-miR-4464	CLIP-seq
MIRT994741	hsa-miR-4469	CLIP-seq
MIRT994742	hsa-miR-4503	CLIP-seq
MIRT994743	hsa-miR-4506	CLIP-seq
MIRT994744	hsa-miR-4668-5p	CLIP-seq
MIRT994745	hsa-miR-4685-3p	CLIP-seq
MIRT994746	hsa-miR-4685-5p	CLIP-seq
MIRT994747	hsa-miR-4694-3p	CLIP-seq
MIRT994748	hsa-miR-4698	CLIP-seq
MIRT994749	hsa-miR-4708-3p	CLIP-seq
MIRT994750	hsa-miR-4728-5p	CLIP-seq
MIRT994751	hsa-miR-4732-3p	CLIP-seq
MIRT994752	hsa-miR-4736	CLIP-seq
MIRT994753	hsa-miR-4740-5p	CLIP-seq
MIRT994754	hsa-miR-4748	CLIP-seq
MIRT994755	hsa-miR-4753-5p	CLIP-seq
MIRT994756	hsa-miR-4757-5p	CLIP-seq
MIRT994757	hsa-miR-4759	CLIP-seq
MIRT994758	hsa-miR-4760-5p	CLIP-seq
MIRT994759	hsa-miR-4763-3p	CLIP-seq
MIRT994760	hsa-miR-4768-3p	CLIP-seq
MIRT994761	hsa-miR-4768-5p	CLIP-seq
MIRT994762	hsa-miR-539	CLIP-seq
MIRT994763	hsa-miR-548t	CLIP-seq
MIRT994764	hsa-miR-550a	CLIP-seq
MIRT994765	hsa-miR-577	CLIP-seq
MIRT994766	hsa-miR-629	CLIP-seq
MIRT994767	hsa-miR-657	CLIP-seq
MIRT994768	hsa-miR-661	CLIP-seq
MIRT994769	hsa-miR-665	CLIP-seq
MIRT994770	hsa-miR-670	CLIP-seq
MIRT994771	hsa-miR-9	CLIP-seq
MIRT994772	hsa-miR-938	CLIP-seq
MIRT994773	hsa-miR-942	CLIP-seq
MIRT994717	hsa-miR-1207-5p	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995021	hsa-miR-181a	CLIP-seq
MIRT1995022	hsa-miR-181b	CLIP-seq
MIRT1995023	hsa-miR-181c	CLIP-seq
MIRT1995024	hsa-miR-181d	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995026	hsa-miR-1976	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995029	hsa-miR-23a	CLIP-seq
MIRT1995030	hsa-miR-23b	CLIP-seq
MIRT1995031	hsa-miR-23c	CLIP-seq
MIRT1995032	hsa-miR-3140-3p	CLIP-seq
MIRT1995033	hsa-miR-3173-3p	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995035	hsa-miR-3665	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995037	hsa-miR-4262	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995039	hsa-miR-4279	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT1995041	hsa-miR-4428	CLIP-seq
MIRT1995042	hsa-miR-4521	CLIP-seq
MIRT1995043	hsa-miR-4719	CLIP-seq
MIRT1995044	hsa-miR-4722-3p	CLIP-seq
MIRT994752	hsa-miR-4736	CLIP-seq
MIRT1995045	hsa-miR-4756-3p	CLIP-seq
MIRT994759	hsa-miR-4763-3p	CLIP-seq
MIRT994760	hsa-miR-4768-3p	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995047	hsa-miR-5095	CLIP-seq
MIRT1995048	hsa-miR-513b	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT1995050	hsa-miR-552	CLIP-seq
MIRT1995051	hsa-miR-600	CLIP-seq
MIRT994769	hsa-miR-665	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT994750	hsa-miR-4728-5p	CLIP-seq
MIRT1995045	hsa-miR-4756-3p	CLIP-seq
MIRT994760	hsa-miR-4768-3p	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT994769	hsa-miR-665	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq
MIRT2449621	hsa-miR-1912	CLIP-seq
MIRT2449622	hsa-miR-4519	CLIP-seq
MIRT2449623	hsa-miR-4733-5p	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq
MIRT1995018	hsa-miR-15a	CLIP-seq
MIRT1995019	hsa-miR-15b	CLIP-seq
MIRT1995020	hsa-miR-16	CLIP-seq
MIRT1995025	hsa-miR-195	CLIP-seq
MIRT1995027	hsa-miR-2117	CLIP-seq
MIRT1995028	hsa-miR-214	CLIP-seq
MIRT1995034	hsa-miR-3619-5p	CLIP-seq
MIRT1995036	hsa-miR-424	CLIP-seq
MIRT1995038	hsa-miR-4273	CLIP-seq
MIRT1995040	hsa-miR-4291	CLIP-seq
MIRT1995046	hsa-miR-497	CLIP-seq
MIRT1995049	hsa-miR-545	CLIP-seq
MIRT1995052	hsa-miR-761	CLIP-seq
MIRT1995053	hsa-miR-922	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001954	Process	Positive regulation of cell-matrix adhesion	IEA
GO:0005178	Function	Integrin binding	IBA
GO:0005737	Component	Cytoplasm	IDA	18528435
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	17012746
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	IBA
GO:0005925	Component	Focal adhesion	IDA	18528435
GO:0005925	Component	Focal adhesion	IEA
GO:0007155	Process	Cell adhesion	IDA	17012746
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	IGI	21356350
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007229	Process	Integrin-mediated signaling pathway	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0030054	Component	Cell junction	IDA	17012746
GO:0030335	Process	Positive regulation of cell migration	IEA
GO:0030511	Process	Positive regulation of transforming growth factor beta receptor signaling pathway	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0033625	Process	Positive regulation of integrin activation	IGI	21356350
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043616	Process	Keratinocyte proliferation	IDA	17012746
GO:0051015	Function	Actin filament binding	IEA
GO:0051546	Process	Keratinocyte migration	IDA	17012746
GO:0051886	Process	Negative regulation of timing of anagen	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0071636	Process	Positive regulation of transforming growth factor beta production	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0071944	Component	Cell periphery	IDA	18528435
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IEA
GO:0090162	Process	Establishment of epithelial cell polarity	IDA	17012746
GO:1903691	Process	Positive regulation of wound healing, spreading of epidermal cells	IGI	21356350
GO:2000647	Process	Negative regulation of stem cell proliferation	IEA

MIM	HGNC	e!Ensembl
607900	15889	ENSG00000101311

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
LWWEQKHCWLLKTHWTLDKYGVQADAKLLFTPQHKMLRLRLPNLKMVRLRVSFSAVVFKA
VSDICKILNIRRSEELSLLKPSGDYFKKKKKKDKNNKEPIIEDILNLESSPTASGSSVSP
GLYSKTMTPIYDPINGTPASSTMTWFSDSPLTEQNCSILAFSQPPQSPEALADMYQPRSL
VDKAKLNAGWLDSSRSLMEQGIQEDEQLLLRFKYYSFFDLNPKYDAVRINQLYEQARWAI
LLEEIDCTEEEMLIFAALQYHISKLSLSAETQDFAGESEVDEIEAALSNLEVTLEGGKAD
SLLEDITDIPKLADNLKLFRPKKLLPKAFKQYWFIFKDTSIAYFKNKELEQGEPLEKLNL
RGCEVVPDVNVAGRKFGIKLLIPVADGMNEMYLRCDHENQYAQWMAACMLASKGKTMADS
SYQPEVLNILSFLRMKNRNSASQVASSLENMDMNPECFVSPRCAKRHKSKQLAARILEAH
QNVAQMPLVEAKLRFIQAWQSLPEFGLTYYLVRFKGSKKDDILGVSYNRLIKIDAATGIP
VTTWRFTNIKQWNVNWETRQVVIEFDQNVFTAFTCLSADCKIVHEYIGGYIFLSTRSKDQ
NETLDEDLFHKLTGGQD

Sequence length

677

Interactions

View interactions

225

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skin	Likely pathogenic	rs869312726	RCV001814118
FERMT1-related disorder	Pathogenic	rs121918293, rs146180696, rs748240859	RCV003894788 RCV004755812 RCV004755927
Kindler syndrome	Pathogenic; Likely pathogenic	rs1982142302, rs1982268239, rs1983080839, rs2123118335, rs765716291, rs779915885, rs1411462678, rs121918292, rs1568654138, rs1568664492, rs121918293, rs121918294, rs869312721, rs869312731, rs869312718 View all (7 more)	RCV001352796 RCV001352794 RCV001352793 RCV001526461 RCV001783270 RCV001799567 RCV000002832 RCV000002833 RCV000002834 RCV000002835 RCV000002836 RCV000002837 RCV000209952 RCV000209891 RCV000209936 RCV000209869 RCV003145138 RCV003154181 RCV003994700 RCV001352795 RCV000789034 RCV001291293

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs11700199	RCV005916630
Clear cell carcinoma of kidney	Benign	rs138019177	RCV005897475
Gastric cancer	Benign	rs73074364	RCV005922057
Glioma susceptibility 1	Likely benign	rs565288503	RCV005869889
Hepatocellular carcinoma	Benign; Likely benign	rs2273423, rs781628043	RCV005894017 RCV005931638
Malignant tumor of esophagus	Benign	rs11700199, rs138019177	RCV005916629 RCV005897474
Melanoma	Uncertain significance	rs760079665	RCV005932196
Uterine carcinosarcoma	Benign	rs73074364	RCV005922058

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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 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

FERMT1 (FERM domain containing kindlin 1)