Smcr8 MGI Mouse Gene Detail - MGI:2444720 - Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)

Symbol

Smcr8
Name

Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
Synonyms

2310076G09Rik, D030073L15Rik

Feature Type

protein coding gene
IDs

MGI:2444720
NCBI Gene: 237782
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr11:60668351-60679113 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 37.83 cM
Mapping Data

3 experiments

SNPs within 2kb

316 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444720	protein coding gene	Chr11:60668350-60679113 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018425	protein coding gene	Chr11:60696420-60707221 (+)
A/J	MGP_AJ_G0018394	protein coding gene	Chr11:58462465-58473105 (+)
AKR/J	MGP_AKRJ_G0018364	protein coding gene	Chr11:60313849-60324653 (+)
BALB/cJ	MGP_BALBcJ_G0018365	protein coding gene	Chr11:58757966-58768729 (+)
C3H/HeJ	MGP_C3HHeJ_G0018178	protein coding gene	Chr11:60253116-60264673 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018817	protein coding gene	Chr11:62618177-62629976 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016463	protein coding gene	Chr11:55600906-55612189 (+)
CAST/EiJ	MGP_CASTEiJ_G0017735	protein coding gene	Chr11:60351496-60362136 (+)
CBA/J	MGP_CBAJ_G0018152	protein coding gene	Chr11:65342287-65352927 (+)
DBA/2J	MGP_DBA2J_G0018261	protein coding gene	Chr11:58047274-58058037 (+)
FVB/NJ	MGP_FVBNJ_G0018252	protein coding gene	Chr11:57710418-57721080 (+)
LP/J	MGP_LPJ_G0018334	protein coding gene	Chr11:61273620-61284224 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018276	protein coding gene	Chr11:66405438-66417361 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018858	protein coding gene	Chr11:60408669-60419309 (+)
PWK/PhJ	MGP_PWKPhJ_G0017508	protein coding gene	Chr11:58627329-58638298 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017298	protein coding gene	Chr11:60222754-60233633 (+)
WSB/EiJ	MGP_WSBEiJ_G0017787	protein coding gene	Chr11:60028179-60039265 (+)

Human Ortholog

SMCR8, SMCR8-C9orf72 complex subunit

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SMCR8, SMCR8-C9orf72 complex subunit
Synonyms

DENND8A
Links

HGNC:17921

NCBI Gene ID: 140775

neXtProt AC: NX_Q8TEV9

UniProt: Q8TEV9
Chr Location

17p11.2; chr17:18315293-18328056 (+) GRCh38

MGI Vertebrate Homology

Smcr8 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SMCR8
Gene Tree

Smcr8

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References

2 with disease annotations

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Phenotype Summary

12 phenotypes from 7 alleles in 7 genetic backgrounds
1 phenotype from multigenic genotypes
25 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

15
Chemically induced (ENU)

3
Chemically induced (other)

1
Endonuclease-mediated

5
Gene trapped

2
Targeted

4
Genomic Mutations

3 involving Smcr8
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

40 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mouse embryonic fibroblasts homozygous for a knock-out allele show impaired autophagy induction, a reduced autophagic flux, and abnormal expression of lysosomal enzymes.

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All GO Annotations

43
GO References

10

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

706
cDNA Data

56

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase smcr8

ZFIN smcr8b

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All Sequences

42
RefSeq

4
UniProt

1
CCDS

CCDS24798.1, CCDS48814.1

Ensembl

ENSMUSG00000049323 (Evidence)
NCBI Gene

237782

			Length	Strain/Species	Flank
genomic	237782	NCBI Gene Model \| MGI Sequence Detail	10763	C57BL/6J	± kb
transcript	NM_001085440	RefSeq \| MGI Sequence Detail	7394	C57BL/6
polypeptide	Q3UMB5	UniProt \| EBI \| MGI Sequence Detail	935	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000015280 guanine nucleotide exchange protein SMCR8

(term hierarchy)
InterPro Domains

IPR037520 Folliculin/SMCR8, longin domain

IPR037521 Folliculin/SMCR8, tripartite DENN domain
GlyGen

Q3UMB5 1 site, 1 N-linked glycan (1 site)

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All nucleic 57

cDNA 57

Microarray probesets 3

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MGI:1916935, MGI:2144244

Summaries

All 53

Diseases 2

Gene Ontology 10

Phenotypes 25
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Smcr8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr101917	Chr11:60667698-60667716 (+)	-644 bp
Tssr101918	Chr11:60667733-60667774 (+)	-597 bp
Tssr101919	Chr11:60668357-60668389 (+)	22 bp
Tssr101920	Chr11:60668401-60668415 (+)	57 bp
Tssr101921	Chr11:60669730-60669769 (+)	1,399 bp
Tssr101922	Chr11:60676964-60676971 (+)	8,617 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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