Knstrn MGI Mouse Gene Detail - MGI:1289298 - kinetochore-localized astrin/SPAG5 binding

Symbol

Knstrn
Name

kinetochore-localized astrin/SPAG5 binding
Synonyms

1700025D04Rik, D2Ertd750e

Feature Type

protein coding gene
IDs

MGI:1289298
NCBI Gene: 51944
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:118644470-118667691 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 59.46 cM
Mapping Data

3 experiments

SNPs within 2kb

239 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1289298	protein coding gene	Chr2:118644470-118684438 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026324	protein coding gene	Chr2:121518891-121566066 (+)
A/J	MGP_AJ_G0026285	protein coding gene	Chr2:116587819-116627061 (+)
AKR/J	MGP_AKRJ_G0026264	protein coding gene	Chr2:119853732-119892895 (+)
BALB/cJ	MGP_BALBcJ_G0026298	protein coding gene	Chr2:116850039-116891168 (+)
C3H/HeJ	MGP_C3HHeJ_G0026044	protein coding gene	Chr2:120321246-120361548 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0026745	protein coding gene	Chr2:125522572-125568484 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024125	protein coding gene	Chr2:111631200-111670677 (+)
CAST/EiJ	MGP_CASTEiJ_G0025506	protein coding gene	Chr2:120625792-120665959 (+)
CBA/J	MGP_CBAJ_G0026020	protein coding gene	Chr2:129953366-129996587 (+)
DBA/2J	MGP_DBA2J_G0026159	protein coding gene	Chr2:116014179-116054638 (+)
FVB/NJ	MGP_FVBNJ_G0026121	protein coding gene	Chr2:114835631-114877409 (+)
LP/J	MGP_LPJ_G0026260	protein coding gene	Chr2:121848043-121888959 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026140	protein coding gene	Chr2:134320363-134362250 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0026800	protein coding gene	Chr2:119978721-120018917 (+)
PWK/PhJ	MGP_PWKPhJ_G0025242	protein coding gene	Chr2:115563639-115602876 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025041	protein coding gene	Chr2:119149256-119192445 (+)
WSB/EiJ	MGP_WSBEiJ_G0025575	protein coding gene	Chr2:120801144-120843190 (+)

Human Ortholog

KNSTRN, kinetochore localized astrin (SPAG5) binding protein

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KNSTRN, kinetochore localized astrin (SPAG5) binding protein
Synonyms

C15orf23, HSD11, ROCHIS, SKAP, TRAF4AF1
Links

HGNC:30767

NCBI Gene ID: 90417

neXtProt AC: NX_Q9Y448

UniProt: Q9Y448
Chr Location

15q15.1; chr15:40382721-40394288 (+) GRCh38

MGI Vertebrate Homology

Knstrn stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KNSTRN
Gene Tree

Knstrn

Diseases

2 with human KNSTRN associations

				Human Disease	Mouse Models
				actinic keratosis IDs actinic keratosis DOID:8866 ICD10CM:L57.0 ICD9CM:702.0 MESH:D055623 NCI:C3148 UMLS_CUI:C0022602
				skin squamous cell carcinoma IDs skin squamous cell carcinoma DOID:3151 NCI:C4819 UMLS_CUI:C0553723

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

22 phenotypes from 2 alleles in 2 genetic backgrounds
13 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (other)

1
Gene trapped

5
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Knstrn
Incidental Mutations

APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele display reduced fertility, decreased testis size, oligozoospermia, and defects in early spermatogenesis associated with abnormal spermatogonia proliferation and increased testis apoptosis.

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All GO Annotations

41
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

707
Tissues

1
cDNA Data

112
Literature Summary

2

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase knstrn

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All Sequences

66
RefSeq

6
UniProt

10
CCDS

CCDS16585.1

Ensembl

ENSMUSG00000027331 (Evidence)
NCBI Gene

51944

			Length	Strain/Species	Flank
genomic	51944	NCBI Gene Model \| MGI Sequence Detail	23222	C57BL/6J	± kb
transcript	NM_026412	RefSeq \| MGI Sequence Detail	3118	C57BL/6
polypeptide	Q9D9Z1	UniProt \| EBI \| MGI Sequence Detail	312	Not Applicable

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UniProt

10 Sequences
Protein Ontology

PR:000060167 small kinetochore-associated protein

(term hierarchy)
InterPro Domains

IPR033373 Small kinetochore-associated protein

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All nucleic 113

cDNA 112

Primer pair 1

Microarray probesets 6

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MGI:1915103

Summaries

All 43

Developmental Gene Expression 2

Gene Ontology 7

Phenotypes 13
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:313619 Bedogni F, et al., Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development. Front Mol Neurosci. 2021;14:686034

TSS for Knstrn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr19579	Chr2:118644476-118644508 (+)	22 bp
Tssr19580	Chr2:118644510-118644521 (+)	46 bp
Tssr19581	Chr2:118644676-118644716 (+)	226 bp
Tssr19582	Chr2:118644718-118644742 (+)	260 bp
Tssr19583	Chr2:118660503-118660508 (+)	16,036 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/09/2024 MGI 6.23