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	90417
Gene name	Kinetochore localized astrin (SPAG5) binding protein
Gene symbol	KNSTRN
Synonyms (NCBI Gene)	C15orf23HSD11ROCHISSKAPTRAF4AF1
Chromosome	15
Chromosome location	15q15.1

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs868438023	C>T	Likely-pathogenic	Coding sequence variant, missense variant

105

Show/Hide all (105)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046798	hsa-miR-222-3p	CLASH	23622248
MIRT712617	hsa-miR-497-3p	HITS-CLIP	19536157
MIRT712616	hsa-miR-3926	HITS-CLIP	19536157
MIRT712615	hsa-miR-548s	HITS-CLIP	19536157
MIRT712614	hsa-miR-4701-5p	HITS-CLIP	19536157
MIRT712613	hsa-miR-588	HITS-CLIP	19536157
MIRT712612	hsa-miR-4435	HITS-CLIP	19536157
MIRT712611	hsa-miR-3187-3p	HITS-CLIP	19536157
MIRT667697	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT667696	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT667695	hsa-miR-892a	HITS-CLIP	23824327
MIRT667694	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT667693	hsa-miR-759	HITS-CLIP	23824327
MIRT667692	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT667691	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT667690	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT667689	hsa-miR-3135a	HITS-CLIP	23824327
MIRT667688	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT667687	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT667686	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT667685	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT667684	hsa-miR-3672	HITS-CLIP	23824327
MIRT667683	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT568675	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT568674	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT568672	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT568673	hsa-miR-4302	PAR-CLIP	20371350
MIRT568671	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT568670	hsa-miR-4697-3p	PAR-CLIP	20371350
MIRT568669	hsa-miR-5587-5p	PAR-CLIP	20371350
MIRT568675	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT568674	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT568672	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT568673	hsa-miR-4302	PAR-CLIP	20371350
MIRT568671	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT568670	hsa-miR-4697-3p	PAR-CLIP	20371350
MIRT568669	hsa-miR-5587-5p	PAR-CLIP	20371350
MIRT543091	hsa-miR-1273f	PAR-CLIP	21572407
MIRT543090	hsa-miR-4534	PAR-CLIP	21572407
MIRT543089	hsa-miR-8082	PAR-CLIP	21572407
MIRT543088	hsa-miR-1303	PAR-CLIP	21572407
MIRT192480	hsa-miR-186-5p	PAR-CLIP	23592263
MIRT450981	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT192483	hsa-miR-3153	PAR-CLIP	23592263
MIRT192486	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT192487	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT667689	hsa-miR-3135a	PAR-CLIP	27292025
MIRT667684	hsa-miR-3672	PAR-CLIP	27292025
MIRT667687	hsa-miR-4711-3p	PAR-CLIP	27292025
MIRT667697	hsa-miR-4797-5p	PAR-CLIP	27292025
MIRT667696	hsa-miR-508-5p	PAR-CLIP	27292025
MIRT667694	hsa-miR-5586-3p	PAR-CLIP	27292025
MIRT667686	hsa-miR-6512-3p	PAR-CLIP	27292025
MIRT667685	hsa-miR-6720-5p	PAR-CLIP	27292025
MIRT667692	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT667683	hsa-miR-6864-3p	PAR-CLIP	27292025
MIRT667693	hsa-miR-759	PAR-CLIP	27292025
MIRT667691	hsa-miR-766-3p	PAR-CLIP	27292025
MIRT667690	hsa-miR-873-3p	PAR-CLIP	27292025
MIRT667695	hsa-miR-892a	PAR-CLIP	27292025
MIRT712617	hsa-miR-497-3p	HITS-CLIP	19536157
MIRT712616	hsa-miR-3926	HITS-CLIP	19536157
MIRT712615	hsa-miR-548s	HITS-CLIP	19536157
MIRT712614	hsa-miR-4701-5p	HITS-CLIP	19536157
MIRT712613	hsa-miR-588	HITS-CLIP	19536157
MIRT712612	hsa-miR-4435	HITS-CLIP	19536157
MIRT712611	hsa-miR-3187-3p	HITS-CLIP	19536157
MIRT667697	hsa-miR-4797-5p	HITS-CLIP	23824327
MIRT667696	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT667695	hsa-miR-892a	HITS-CLIP	23824327
MIRT667694	hsa-miR-5586-3p	HITS-CLIP	23824327
MIRT667693	hsa-miR-759	HITS-CLIP	23824327
MIRT667692	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT667691	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT667690	hsa-miR-873-3p	HITS-CLIP	23824327
MIRT667689	hsa-miR-3135a	HITS-CLIP	23824327
MIRT667688	hsa-miR-196a-3p	HITS-CLIP	23824327
MIRT667687	hsa-miR-4711-3p	HITS-CLIP	23824327
MIRT667686	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT667685	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT667684	hsa-miR-3672	HITS-CLIP	23824327
MIRT667683	hsa-miR-6864-3p	HITS-CLIP	23824327
MIRT568675	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT568674	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT568672	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT568673	hsa-miR-4302	PAR-CLIP	20371350
MIRT568671	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT568670	hsa-miR-4697-3p	PAR-CLIP	20371350
MIRT568669	hsa-miR-5587-5p	PAR-CLIP	20371350
MIRT568675	hsa-miR-7845-5p	PAR-CLIP	20371350
MIRT568674	hsa-miR-211-3p	PAR-CLIP	20371350
MIRT568672	hsa-miR-6733-3p	PAR-CLIP	20371350
MIRT568673	hsa-miR-4302	PAR-CLIP	20371350
MIRT568671	hsa-miR-6801-5p	PAR-CLIP	20371350
MIRT568670	hsa-miR-4697-3p	PAR-CLIP	20371350
MIRT568669	hsa-miR-5587-5p	PAR-CLIP	20371350
MIRT543091	hsa-miR-1273f	PAR-CLIP	21572407
MIRT543090	hsa-miR-4534	PAR-CLIP	21572407
MIRT543089	hsa-miR-8082	PAR-CLIP	21572407
MIRT543088	hsa-miR-1303	PAR-CLIP	21572407
MIRT192480	hsa-miR-186-5p	PAR-CLIP	23592263
MIRT450981	hsa-miR-4668-5p	PAR-CLIP	23592263
MIRT192483	hsa-miR-3153	PAR-CLIP	23592263
MIRT192486	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT192487	hsa-miR-6739-5p	PAR-CLIP	23592263

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IBA
GO:0000070	Process	Mitotic sister chromatid segregation	IMP	21402792
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	26242911
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IBA
GO:0000776	Component	Kinetochore	IDA	21402792
GO:0000776	Component	Kinetochore	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001726	Component	Ruffle	IDA	26242911
GO:0005515	Function	Protein binding	IPI	21402792, 22965910, 26242911, 26496610, 29180244, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005815	Component	Microtubule organizing center	IDA	29180244
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007051	Process	Spindle organization	IBA
GO:0007051	Process	Spindle organization	IEA
GO:0007051	Process	Spindle organization	IMP	21402792
GO:0007059	Process	Chromosome segregation	IEA
GO:0007059	Process	Chromosome segregation	IMP	21402792
GO:0016477	Process	Cell migration	IMP	26242911
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA
GO:0035371	Component	Microtubule plus-end	IBA
GO:0035371	Component	Microtubule plus-end	IDA	21402792, 26242911
GO:0042803	Function	Protein homodimerization activity	IPI	26242911
GO:0051010	Function	Microtubule plus-end binding	IDA	26242911
GO:0051301	Process	Cell division	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IBA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IMP	21402792
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IMP	26242911
GO:0072686	Component	Mitotic spindle	IBA
GO:0072686	Component	Mitotic spindle	IDA	21402792

MIM	HGNC	e!Ensembl
614718	30767	ENSG00000128944

Q9Y448

Protein name

Small kinetochore-associated protein (SKAP) (Kinetochore-localized astrin-binding protein) (Kinastrin) (Kinetochore-localized astrin/SPAG5-binding protein) (TRAF4-associated factor 1)

Protein function

Essential component of the mitotic spindle required for faithful chromosome segregation and progression into anaphase (PubMed:19667759). Promotes the metaphase-to-anaphase transition and is required for chromosome alignment, normal timing of sis

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, including in skin. {ECO:0000269|PubMed:25194279}.

Sequence

MAAPEAPPLDRVFRTTWLSTECDSHPLPPSYRKFLFETQAADLAGGTTVAAGNLLNESEK
DCGQDRRAPGVQPCRLVTMTSVVKTVYSLQPPSALSGGQPADTQTRATSKSLLPVRSKEV
DVSKQLHSGGPENDVTKITKLRRENGQMKATDTATRRNVRKGYKPLSKQKSEEELKDKNQ
LLEAVNKQLHQKLTETQGELKDLTQKVELLEKFRDNCLAILESKGLDPALGSETLASRQE
STTDHMDSMLLLETLQEELKLFNETAKKQMEELQALKVKLEMKEERVRFLEQQTLCNNQV
NDLTTALKEMEQLLEM

Sequence length

316

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency with faciooculoskeletal anomalies	Pathogenic	rs779438003	RCV002246351	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY WITH FACIO-OCULO-SKELETAL ANOMALIES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROIFMAN-CHITAYAT SYNDROME	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Actinic keratosis	Actinic keratosis	BEFREE	30972880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Apparent Mineralocorticoid Excess	BEFREE	8370690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38198023	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10726708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29180244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency with faciooculoskeletal anomalies	Roifman-Chitayat Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	27381417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	27381417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	31781484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35201967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	10726708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10726708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	31781484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25194279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mineralocorticoid Excess Syndrome, Apparent	Mineralocorticoid Excess Syndrome	BEFREE	10726708		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	29180244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Roifman-Chitayat Syndrome	Roifman-Chitayat Syndrome	ORPHANET_DG	29180244		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	25194279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	25194279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	25194279, 30972880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	CLINVAR_DG	26619011		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	38198023	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KNSTRN (kinetochore localized astrin (SPAG5) binding protein)