Kash5 MGI Mouse Gene Detail - MGI:2687329

Symbol

Kash5
Name

KASH domain containing 5
Synonyms

Ccdc155, LOC384619, MGC:60968

Feature Type

protein coding gene
IDs

MGI:2687329
NCBI Gene: 384619
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr7:44833048-44854316 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 29.17 cM
Mapping Data

2 experiments

SNPs within 2kb

539 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2687329	protein coding gene	Chr7:44833043-44854344 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0032208	protein coding gene	Chr7:45420337-45441447 (-)
A/J	MGP_AJ_G0032187	protein coding gene	Chr7:44558437-44579736 (-)
AKR/J	MGP_AKRJ_G0032123	protein coding gene	Chr7:45788918-45810020 (-)
BALB/cJ	MGP_BALBcJ_G0032199	protein coding gene	Chr7:44557842-44579410 (-)
C3H/HeJ	MGP_C3HHeJ_G0031915	protein coding gene	Chr7:46281904-46303001 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0032691	protein coding gene	Chr7:47692487-47713622 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029705	protein coding gene	Chr7:47120445-47142038 (-)
CAST/EiJ	MGP_CASTEiJ_G0031243	protein coding gene	Chr7:37675708-37697026 (-)
CBA/J	MGP_CBAJ_G0031879	protein coding gene	Chr7:49257106-49278198 (-)
DBA/2J	MGP_DBA2J_G0032037	protein coding gene	Chr7:44230954-44252488 (-)
FVB/NJ	MGP_FVBNJ_G0031988	protein coding gene	Chr7:44006312-44028267 (-)
LP/J	MGP_LPJ_G0032115	protein coding gene	Chr7:46105424-46128256 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0032025	protein coding gene	Chr7:47967984-47990382 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0032707	protein coding gene	Chr7:45004061-45025393 (-)
PWK/PhJ	MGP_PWKPhJ_G0030966	protein coding gene	Chr7:37596916-37618223 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0030803	protein coding gene	Chr7:33019698-33040934 (-)
WSB/EiJ	MGP_WSBEiJ_G0031360	protein coding gene	Chr7:45500288-45521447 (-)

Human Ortholog

KASH5, KASH domain containing 5

Vertebrate Orthologs

2

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KASH5, KASH domain containing 5
Synonyms

CCDC155, POF22, SPGF88
Links

HGNC:26520

NCBI Gene ID: 147872

neXtProt AC: NX_Q8N6L0

UniProt: Q8N6L0
Chr Location

19q13.33; chr19:49388219-49417990 (+) GRCh38

MGI Vertebrate Homology

Kash5 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: KASH5
Gene Tree

Kash5

Diseases

2 with human KASH5 associations

				Human Disease	Mouse Models
				primary ovarian insufficiency IDs primary ovarian insufficiency DOID:5426 ICD10CM:E28.3 MESH:D016649 NCI:C113352 OMIM:PS311360 ORDO:619 UMLS_CUI:C0085215
				spermatogenic failure 88 IDs spermatogenic failure 88 DOID:0070587 OMIM:620547

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

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Phenotype Summary

23 phenotypes from 2 alleles in 2 genetic backgrounds
6 images
11 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

9
Endonuclease-mediated

2
Gene trapped

4
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice are infertile. Females have small ovaries and lack ovarian follicles. Males exhibit small testes and seminiferous tubules, lack of mature sperm, increased testis apoptosis, and meiotic arrest along with limited homologous chromosome pairing and unresolved double-strand breaks.

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All GO Annotations

30
GO References

5

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	membraneless 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

728
Tissues

17
cDNA Data

7
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

38
RefSeq

12
UniProt

1
CCDS

CCDS21234.2

Ensembl

ENSMUSG00000038292 (Evidence)
NCBI Gene

384619

			Length	Strain/Species	Flank
genomic	ENSMUSG00000038292	Ensembl Gene Model \| MGI Sequence Detail	21269	C57BL/6J	± kb
transcript	ENSMUST00000121017	Ensembl \| MGI Sequence Detail	2262	Not Applicable
polypeptide	ENSMUSP00000113616	Ensembl \| MGI Sequence Detail	648	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000031068 coiled-coil domain-containing protein 155

(term hierarchy)
InterPro Domains

IPR028168 KASH5-like coiled-coil domain

IPR028170 Protein KASH5

IPR039508 Protein KASH5, EF-hand-like domain

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All nucleic 8

cDNA 7

Primer pair 1

Microarray probesets 1

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MGI:2686280, MGI:6390569

Summaries

All 33

Developmental Gene Expression 3

Gene Ontology 5

Phenotypes 11
Earliest

J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
Latest

J:346053 Zhang J, et al., Regulation of meiotic telomere dynamics through membrane fluidity promoted by AdipoR2-ELOVL2. Nat Commun. 2024 Mar 14;15(1):2315

TSS for Kash5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr72339	Chr7:44853892-44853928 (-)	406 bp
Tssr72338	Chr7:44839218-44839233 (-)	15,090 bp
Tssr72337	Chr7:44839095-44839137 (-)	15,200 bp
Tssr72336	Chr7:44839071-44839074 (-)	15,243 bp
Tssr72335	Chr7:44838978-44838990 (-)	15,332 bp
Tssr72334	Chr7:44838124-44838137 (-)	16,185 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 11/12/2024 MGI 6.24