Khdrbs2 MGI Mouse Gene Detail - MGI:2159649 - KH domain containing, RNA binding, signal transduction associated 2

Symbol

Khdrbs2
Name

KH domain containing, RNA binding, signal transduction associated 2
Synonyms

6330586C16Rik, SLM-1

Feature Type

protein coding gene
IDs

MGI:2159649
NCBI Gene: 170771
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr1:32211795-32697649 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 11.86 cM, cytoband B
Mapping Data

2 experiments

SNPs within 2kb

14859 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2159649	protein coding gene	Chr1:32211683-32744305 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0015900	protein coding gene	Chr1:30468516-30984087 (+)
A/J	MGP_AJ_G0015884	protein coding gene	Chr1:29712279-30225946 (+)
AKR/J	MGP_AKRJ_G0015838	protein coding gene	Chr1:30061096-30577652 (+)
BALB/cJ	MGP_BALBcJ_G0015837	protein coding gene	Chr1:29429519-29923320 (+)
C3H/HeJ	MGP_C3HHeJ_G0015671	protein coding gene	Chr1:30269434-30772174 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016291	protein coding gene	Chr1:31875783-32415678 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014010	protein coding gene	Chr1:27036173-27463283 (+)
CAST/EiJ	MGP_CASTEiJ_G0015250	protein coding gene	Chr1:30169391-30670825 (+)
CBA/J	MGP_CBAJ_G0015643	protein coding gene	Chr1:32712967-33259430 (+)
DBA/2J	MGP_DBA2J_G0015743	protein coding gene	Chr1:29128459-29610424 (+)
FVB/NJ	MGP_FVBNJ_G0015746	protein coding gene	Chr1:28684304-29155672 (+)
LP/J	MGP_LPJ_G0015814	protein coding gene	Chr1:30709895-31308670 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0015766	protein coding gene	Chr1:34942142-35599855 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016338	protein coding gene	Chr1:30023351-30542820 (+)
PWK/PhJ	MGP_PWKPhJ_G0015035	protein coding gene	Chr1:28839562-29333061 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0014814	protein coding gene	Chr1:30070063-30548100 (+)
WSB/EiJ	MGP_WSBEiJ_G0015314	protein coding gene	Chr1:30043921-30581279 (+)

Human Ortholog

KHDRBS2, KH RNA binding domain containing, signal transduction associated 2

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KHDRBS2, KH RNA binding domain containing, signal transduction associated 2
Synonyms

KHDRBS2-OT, KHDRBS2-OT1, SLM-1, SLM1
Links

HGNC:18114

NCBI Gene ID: 202559

neXtProt AC: NX_Q5VWX1

UniProt: Q5VWX1
Chr Location

6q11.1

MGI Vertebrate Homology

Khdrbs2 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KHDRBS2
Gene Tree

Khdrbs2

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Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
20 phenotypes from multigenic genotypes
23 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

8
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

4
Transgenic

1
Genomic Mutations

1 involving Khdrbs2
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

25 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant animals display smaller brain size and reduced weight in the cerebellum.

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All GO Annotations

17
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

732
Tissues

26
cDNA Data

9
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase khdrbs2

ZFIN khdrbs2

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All Sequences

49
RefSeq

8
UniProt

5
CCDS

CCDS14861.1

Ensembl

ENSMUSG00000026058 (Evidence)
NCBI Gene

170771

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026058	Ensembl Gene Model \| MGI Sequence Detail	485855	C57BL/6J	± kb
transcript	ENSMUST00000027226	Ensembl \| MGI Sequence Detail	2281	Not Applicable
polypeptide	ENSMUSP00000027226	Ensembl \| MGI Sequence Detail	349	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000009280 KH domain-containing, RNA-binding, signal transduction-associated protein 2

(term hierarchy)
InterPro Domains

IPR045071 KH domain-containing BBP-like

IPR032571 KHDRBS, Qua1 domain

IPR004087 K Homology domain

IPR004088 K Homology domain, type 1

IPR036612 K Homology domain, type 1 superfamily

IPR032335 Sam68, tyrosine-rich domain
GlyGen

Q9WU01 1 site, 1 O-linked glycan (1 site)

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All nucleic 13

cDNA 11

Primer pair 2

Microarray probesets 2

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MGI:2441713, MGI:3847808

Summaries

All 48

Developmental Gene Expression 3

Diseases 2

Gene Ontology 4

Phenotypes 23
Earliest

J:53497 Di Fruscio M, et al., Characterization of Sam68-like mammalian proteins SLM-1 and SLM-2: SLM-1 is a Src substrate during mitosis. Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):2710-5
Latest

J:306456 Farini D, et al., A Dynamic Splicing Program Ensures Proper Synaptic Connections in the Developing Cerebellum. Cell Rep. 2020 Jun 2;31(9):107703

TSS for Khdrbs2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr6146	Chr1:32211792-32211873 (+)	38 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)
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