Klhdc8b MGI Mouse Gene Detail - MGI:1925517 - kelch domain containing 8B

Symbol

Klhdc8b
Name

kelch domain containing 8B
Synonyms

4931406O17Rik

Feature Type

protein coding gene
IDs

MGI:1925517
NCBI Gene: 78267
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr9:108324835-108338780 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 59.37 cM, cytoband F2
Mapping Data

2 experiments

SNPs within 2kb

394 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1925517	protein coding gene	Chr9:108324834-108338780 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035298	protein coding gene	Chr9:110406335-110420230 (-)
A/J	MGP_AJ_G0035277	protein coding gene	Chr9:106359749-106373692 (-)
AKR/J	MGP_AKRJ_G0035209	protein coding gene	Chr9:109018265-109032202 (-)
BALB/cJ	MGP_BALBcJ_G0035271	protein coding gene	Chr9:106057009-106070949 (-)
C3H/HeJ	MGP_C3HHeJ_G0034981	protein coding gene	Chr9:109409154-109423127 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0035791	protein coding gene	Chr9:113414635-113436417 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032689	protein coding gene	Chr9:103788417-103802967 (-)
CAST/EiJ	MGP_CASTEiJ_G0034292	protein coding gene	Chr9:109384398-109398287 (-)
CBA/J	MGP_CBAJ_G0034949	protein coding gene	Chr9:117409013-117422879 (-)
DBA/2J	MGP_DBA2J_G0035110	protein coding gene	Chr9:105813712-105827649 (-)
FVB/NJ	MGP_FVBNJ_G0035058	protein coding gene	Chr9:104579988-104593909 (-)
LP/J	MGP_LPJ_G0035186	protein coding gene	Chr9:110600972-110614868 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035097	protein coding gene	Chr9:118991571-119005508 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035812	protein coding gene	Chr9:109305326-109319276 (-)
PWK/PhJ	MGP_PWKPhJ_G0033999	protein coding gene	Chr9:106143982-106157943 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0033834	protein coding gene	Chr9:109361195-109376939 (-)
WSB/EiJ	MGP_WSBEiJ_G0034413	protein coding gene	Chr9:109191541-109205470 (-)

Human Ortholog

KLHDC8B, kelch domain containing 8B

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KLHDC8B, kelch domain containing 8B
Synonyms

CHL
Links

HGNC:28557

NCBI Gene ID: 200942

neXtProt AC: NX_Q8IXV7

UniProt: Q8IXV7
Chr Location

3p21.31; chr3:49171598-49176486 (+) GRCh38

MGI Vertebrate Homology

Klhdc8b stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KLHDC8B
Gene Tree

Klhdc8b

Diseases

1 with human KLHDC8B associations

				Human Disease	Mouse Models
				Hodgkin's lymphoma IDs Hodgkin's lymphoma DOID:8567 DOID:0060059 DOID:8652 DOID:8671 DOID:8685 DOID:8710 DOID:8715 DOID:8841 DOID:8953 DOID:9096 DOID:9107 EFO:0000183 ICD10CM:C81 ICD9CM_2006:201.2 ICD9CM:201 ICD9CM:201.0 ICD9CM:201.1 ICD9CM:201.2 ICD9CM:201.9 MESH:D006689 NCI:C9357 OMIM:236000 OMIM:300221 OMIM:400021 ORDO:98293 UMLS_CUI:C0019829

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

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
8 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

19
Endonuclease-mediated

2
Gene trapped

14
Targeted

3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

26 strains or lines available

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All GO Annotations

22
GO References

4

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

708
Tissues

2
cDNA Data

42
Literature Summary

1

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

79
RefSeq

24
UniProt

2
CCDS

CCDS23526.1

Ensembl

ENSMUSG00000032609 (Evidence)
NCBI Gene

78267

			Length	Strain/Species	Flank
genomic	ENSMUSG00000032609	Ensembl Gene Model \| MGI Sequence Detail	13946	C57BL/6J	± kb
transcript	ENSMUST00000193286	Ensembl \| MGI Sequence Detail	2956	Not Applicable
polypeptide	ENSMUSP00000142325	Ensembl \| MGI Sequence Detail	354	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000030952 kelch domain-containing protein 8B

(term hierarchy)
InterPro Domains

IPR011043 Galactose oxidase/kelch, beta-propeller

IPR051746 Kelch domain-containing protein 8

IPR006652 Kelch repeat type 1

IPR015915 Kelch-type beta propeller

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All nucleic 44

cDNA 43

Primer pair 1

Microarray probesets 3

Summaries

All 31

Developmental Gene Expression 1

Gene Ontology 4

Phenotypes 8
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:142754 Hansen GM, et al., Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. Genome Res. 2008 Oct;18(10):1670-9

TSS for Klhdc8b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr91529	Chr9:108338112-108338136 (-)	656 bp
Tssr91528	Chr9:108329949-108330002 (-)	8,804 bp
Tssr91527	Chr9:108329578-108329611 (-)	9,185 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