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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	90417
Gene name Gene Name - the full gene name approved by the HGNC.	Kinetochore localized astrin (SPAG5) binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	KNSTRN
Synonyms (NCBI Gene) Gene synonyms aliases	C15orf23, HSD11, ROCHIS, SKAP, TRAF4AF1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ROCHIS
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q15.1

Show/Hide all(1)

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

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(28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IBA	21873635
GO:0000070	Process	Mitotic sister chromatid segregation	IMP	21402792
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	26242911
GO:0000776	Component	Kinetochore	IBA	21873635
GO:0000776	Component	Kinetochore	IDA	21402792
GO:0000777	Component	Condensed chromosome kinetochore	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001726	Component	Ruffle	IDA	26242911
GO:0005515	Function	Protein binding	IPI	21402792, 26242911, 26496610, 32296183, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0007051	Process	Spindle organization	IBA	21873635
GO:0007051	Process	Spindle organization	IMP	21402792
GO:0007059	Process	Chromosome segregation	IMP	21402792
GO:0016477	Process	Cell migration	IMP	26242911
GO:0034451	Component	Centriolar satellite	IBA	21873635
GO:0034451	Component	Centriolar satellite	IDA
GO:0035371	Component	Microtubule plus-end	IBA	21873635
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	21873635
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	21873635
GO:0072686	Component	Mitotic spindle	IDA	21402792

MIM	HGNC	e!Ensembl
614718	30767	ENSG00000128944

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Carcinoma	Squamous cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	25194279
Melanoma	Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)	26619011

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Roifman-chitayat syndrome	Roifman-Chitayat Syndrome, Combined immunodeficiency with faciooculoskeletal anomalies		29180244	ClinVar

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma of Lung	Associate	37608989, 38198023
Breast Neoplasms	Stimulate	38198023
Esophageal Neoplasms	Associate	35201967
Neoplasms	Associate	35201967, 36845017
Urinary Bladder Neoplasms	Associate	38198023

KNSTRN (kinetochore localized astrin (SPAG5) binding protein)