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Aliases for SMCR8 Gene
Aliases for SMCR8 Gene
External Ids for SMCR8 Gene
- HGNC: 17921
- NCBI Entrez Gene: 140775
- Ensembl: ENSG00000176994
- OMIM®: 617074
- UniProtKB/Swiss-Prot: Q8TEV9
Previous GeneCards Identifiers for SMCR8 Gene
- GC17P018463
- GC17P019590
- GC17P018161
- GC17P018420
- GC17P018421
- GC17P018159
- GC17P018218
- GC17P017972
- GC17P018317
- GC17P018359
- GC17P018605
- GC17P018622
- GC17P018641
- GC17P018720
- GC17P018409
- GC17P018445
- GC17P018453
- GC17P018473
- GC17P018493
- GC17P018524
- GC17P018557
- GC17P018574
- GC17P018807
Summaries for SMCR8 Gene
GeneCards Summary for SMCR8 Gene
SMCR8 (SMCR8-C9orf72 Complex Subunit) is a Protein Coding gene. Diseases associated with SMCR8 include Smith-Magenis Syndrome and Dermatopathia Pigmentosa Reticularis. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Autophagy - animal.
UniProtKB/Swiss-Prot Summary for SMCR8 Gene
-
Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes (PubMed:28195531).
Additional gene information for SMCR8 Gene
- HGNC (17921)
- NCBI Entrez Gene (140775)
- Ensembl (ENSG00000176994)
- OMIM® (617074)
- UniProtKB/Swiss-Prot (Q8TEV9)
- Open Targets Platform(ENSG00000176994)
- Search for SMCR8 at DataMed
- Search for SMCR8 at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMCR8 Gene
Genomics for SMCR8 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SMCR8 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMCR8 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMCR8
- Top Transcription factor binding sites by QIAGEN in the SMCR8 gene promoter:
-
- AREB6
- Elk-1
- Nkx2-5
- Pax-2
- Pax-2a
- Pax-2b
- STAT1
- STAT1alpha
- STAT1beta
- YY1
Genomic Locations for SMCR8 Gene
Latest Assembly
- chr17:18,315,293-18,328,056
- (GRCh38/hg38)
- Size:
- 12,764 bases
- Orientation:
- Plus strand
Previous Assembly
- chr17:18,218,607-18,231,370
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 12,764 bases
- Orientation:
- Plus strand
- chr17:18,218,624-18,226,517
- (GRCh37/hg19 by Ensembl)
- Size:
- 7,894 bases
- Orientation:
- Plus strand
Genomic View for SMCR8 Gene
Genes around SMCR8 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p11.2 by HGNC
- 17p11.2 by Entrez Gene
- 17p11.2 by Ensembl
SMCR8 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMCR8 Gene
Proteins for SMCR8 Gene
-
Protein details for SMCR8 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8TEV9-SMCR8_HUMAN
- Recommended name:
- Guanine nucleotide exchange protein SMCR8
- Protein Accession:
- Q8TEV9
- A5PKZ5
- Q3ZCN0
- Q6PJL3
Protein attributes for SMCR8 Gene
- Size:
- 937 amino acids
- Molecular mass:
- 105022 Da
- Quaternary structure:
-
- Interacts with C9orf72; the interaction is direct (PubMed:27559131, PubMed:27617292). Component of the C9orf72-SMCR8 complex, at least composed of C9orf72, SMCR8 and WDR41 (PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex associates with the ATG1/ULK1 kinase complex (PubMed:28195531).
Protein Expression for SMCR8 Gene
Post-translational modifications for SMCR8 Gene
- Phosphorylation by TBK1 is required to promote autophagosome maturation (PubMed:27103069). Phosphorylated by ULK1 (PubMed:27103069).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SMCR8 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
-
Custom Antibody ServicesOriGene Antibodies for SMCR8
- Novus Biologicals Antibodies for SMCR8
- Invitrogen Antibodies for SMCR8 (AFLGC-SMCR8)
- antibodies-online: Show 6 available SMCR8 Antibodies ranked by validation data
- Compare Top SMCR8 Antibodies
-
Quality Products:
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SMCR8
- Origene Custom Protein Services for SMCR8
- Novus Biologicals proteins for SMCR8
Assay products for research
No data available for DME Specific Peptides for SMCR8 Gene
Domains & Families for SMCR8 Gene
Gene Families for SMCR8 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for SMCR8 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for SMCR8 Gene
- GenScript: Design optimal peptide antigens:
-
- Smith-Magenis syndrome chromosomal region candidate gene 8 protein (SMCR8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8TEV9- Family:
-
- Belongs to the SMCR8 family.
Function for SMCR8 Gene
Molecular function for SMCR8 Gene
- UniProtKB/Swiss-Prot Function:
- Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:20562859, PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:20562859, PubMed:27103069, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex also acts as a negative regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and inhibiting its protein kinase activity (PubMed:27617292, PubMed:28195531). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131, PubMed:28195531). In addition to its activity in the cytoplasm within the C9orf72-SMCR8 complex, SMCR8 also localizes in the nucleus, where it associates with chromatin and negatively regulates expression of suppresses ULK1 and WIPI2 genes (PubMed:28195531).
Phenotypes From GWAS Catalog for SMCR8 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004860 | protein kinase inhibitor activity | IMP | 28195531 |
| GO:0005085 | contributes_to guanyl-nucleotide exchange factor activity | IBA,IDA | 27103069 |
| GO:0005515 | protein binding | IPI | 27103069 |
| GO:0019901 | protein kinase binding | IPI | 27103069 |
Phenotypes for SMCR8 Gene
- MGI mutant phenotypes for SMCR8:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for SMCR8:
Animal Models for SMCR8 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMCR8 - Starting at $85 >
- * SMCR8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMCR8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMCR8
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMCR8
miRNA for SMCR8 Gene
- miRTarBase miRNAs that target SMCR8
-
- mmu-let-7b-5p (MIRT012088)
- hsa-miR-130b-3p (MIRT020110)
- hsa-miR-19b-3p (MIRT031096)
- hsa-miR-149-5p (MIRT045598)
- hsa-let-7a-5p (MIRT076219)
- hsa-let-7b-5p (MIRT076220)
- hsa-let-7c-5p (MIRT076221)
- hsa-let-7d-5p (MIRT076222)
- hsa-let-7e-5p (MIRT076223)
- hsa-let-7f-5p (MIRT076224)
- hsa-miR-98-5p (MIRT076225)
- hsa-miR-196a-5p (MIRT076226)
- hsa-let-7g-5p (MIRT076227)
- hsa-let-7i-5p (MIRT076228)
- hsa-miR-140-5p (MIRT076229)
- hsa-miR-299-3p (MIRT076231)
- hsa-miR-196b-5p (MIRT076232)
- hsa-miR-518a-5p (MIRT076233)
- hsa-miR-527 (MIRT076234)
- hsa-miR-573 (MIRT076235)
- hsa-miR-3606-5p (MIRT076237)
- hsa-miR-3616-5p (MIRT076238)
- hsa-miR-4458 (MIRT076240)
- hsa-miR-4500 (MIRT076241)
- hsa-miR-4684-3p (MIRT076242)
- hsa-miR-4795-5p (MIRT076244)
- hsa-miR-1273g-5p (MIRT076245)
- hsa-miR-6073 (MIRT076246)
- hsa-miR-6748-5p (MIRT116064)
- hsa-miR-6759-5p (MIRT116066)
- hsa-miR-548aw (MIRT196205)
- hsa-miR-3130-5p (MIRT285980)
- hsa-miR-4482-5p (MIRT285981)
- hsa-miR-6512-3p (MIRT286000)
- hsa-miR-6720-5p (MIRT286001)
- hsa-miR-6849-3p (MIRT444880)
- hsa-miR-656-5p (MIRT501053)
- hsa-miR-4491 (MIRT501054)
- hsa-miR-4657 (MIRT501055)
- hsa-miR-6793-5p (MIRT546448)
- hsa-miR-30e-3p (MIRT568919)
- hsa-miR-30d-3p (MIRT568920)
- hsa-miR-30a-3p (MIRT568921)
- hsa-miR-6864-5p (MIRT568922)
- hsa-miR-6763-3p (MIRT568923)
- hsa-miR-3179 (MIRT568924)
- hsa-miR-7515 (MIRT568925)
- hsa-miR-5587-3p (MIRT568926)
- hsa-miR-4707-5p (MIRT568927)
- hsa-miR-4277 (MIRT568928)
- hsa-miR-584-3p (MIRT568929)
- hsa-miR-329-5p (MIRT568930)
- hsa-miR-4464 (MIRT568931)
- hsa-miR-4748 (MIRT568932)
- hsa-miR-3692-3p (MIRT640547)
- hsa-miR-6836-3p (MIRT640548)
- hsa-miR-4436b-5p (MIRT640549)
- hsa-miR-6509-3p (MIRT640550)
- hsa-miR-6791-3p (MIRT640551)
- hsa-miR-6829-3p (MIRT640552)
- hsa-miR-6778-3p (MIRT640553)
- hsa-miR-6747-3p (MIRT640554)
- hsa-miR-660-3p (MIRT640555)
- hsa-miR-5193 (MIRT640556)
- hsa-miR-6752-3p (MIRT640557)
- hsa-miR-6810-3p (MIRT640558)
- hsa-miR-6801-3p (MIRT640559)
- hsa-miR-1273g-3p (MIRT640560)
- hsa-miR-181a-2-3p (MIRT640561)
- hsa-miR-5096 (MIRT666177)
- hsa-miR-6848-3p (MIRT666178)
- hsa-miR-6843-3p (MIRT666179)
- hsa-miR-6855-5p (MIRT666180)
- hsa-miR-3170 (MIRT666181)
- hsa-miR-3187-3p (MIRT666182)
- hsa-miR-4435 (MIRT666183)
- hsa-miR-588 (MIRT666184)
- hsa-miR-4701-5p (MIRT666185)
- hsa-miR-548s (MIRT666186)
- hsa-miR-519e-5p (MIRT666187)
- hsa-miR-515-5p (MIRT666188)
- hsa-miR-197-3p (MIRT666189)
- hsa-miR-193b-5p (MIRT666190)
- hsa-miR-6131 (MIRT666191)
- hsa-miR-4755-3p (MIRT666192)
- hsa-miR-3663-5p (MIRT666193)
- hsa-miR-3653-5p (MIRT666194)
- hsa-miR-5695 (MIRT666195)
- hsa-miR-519d-5p (MIRT666196)
- hsa-miR-4716-5p (MIRT666197)
- hsa-miR-4781-3p (MIRT666198)
- hsa-miR-6890-5p (MIRT666199)
- hsa-miR-181c-5p (MIRT726487)
- hsa-miR-181d-5p (MIRT726488)
- hsa-miR-181b-5p (MIRT726489)
- hsa-miR-181a-5p (MIRT726490)
- hsa-miR-122-5p (MIRT736118)
- hsa-miR-1233-5p (MIRT736266)
- hsa-miR-1293 (MIRT737166)
- hsa-miR-1973 (MIRT738685)
- hsa-miR-3135b (MIRT740138)
- hsa-miR-363-5p (MIRT741849)
- hsa-miR-4300 (MIRT743857)
- hsa-miR-4433a-5p (MIRT744373)
- hsa-miR-4433b-5p (MIRT744389)
- hsa-miR-4483 (MIRT745163)
- hsa-miR-4487 (MIRT745214)
- hsa-miR-4505 (MIRT745542)
- hsa-miR-4640-5p (MIRT746341)
- hsa-miR-4726-5p (MIRT747770)
- hsa-miR-4757-5p (MIRT748477)
- hsa-miR-504-3p (MIRT749560)
- hsa-miR-5189-3p (MIRT749870)
- hsa-miR-5591-5p (MIRT751086)
- hsa-miR-574-5p (MIRT751431)
- hsa-miR-5787 (MIRT751491)
- hsa-miR-6090 (MIRT752046)
- hsa-miR-626 (MIRT752623)
- hsa-miR-644a (MIRT752744)
- hsa-miR-6508-3p (MIRT752977)
- hsa-miR-663b (MIRT753604)
- hsa-miR-6726-5p (MIRT753929)
- hsa-miR-6744-3p (MIRT754434)
- hsa-miR-6745 (MIRT754476)
- hsa-miR-6756-5p (MIRT754827)
- hsa-miR-6766-5p (MIRT755135)
- hsa-miR-6778-5p (MIRT755462)
- hsa-miR-6814-5p (MIRT756762)
- hsa-miR-6870-3p (MIRT757966)
- hsa-miR-6876-3p (MIRT758132)
- hsa-miR-6878-3p (MIRT758193)
- hsa-miR-8081 (MIRT760161)
- hsa-miR-920 (MIRT760483)
- hsa-miR-6827-5p (MIRT779945)
- hsa-miR-7108-5p (MIRT781423)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMCR8
- Browse OriGene Inhibitory RNA Products For SMCR8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMCR8
Clone products for research
- Applied Biological Materials (abm): Clones for SMCR8 - Starting at $45 >
- * SMCR8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SMCR8
- Addgene plasmids for SMCR8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMCR8
Cell Lines for research
-
Horizon Cell Lines for SMCR8
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SMCR8 Gene
Localization for SMCR8 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMCR8 Gene
- Cytoplasm. Nucleus. Note=Localizes mainly in the cytoplasm. {ECO:0000269 PubMed:28195531}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| endosome | 2 |
| cytosol | 2 |
| lysosome | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | IDA | 28195531 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | IDA | 28195531 |
| GO:0005737 | cytoplasm | IEA,IDA | 27193190 |
| GO:0032045 | guanyl-nucleotide exchange factor complex | IBA,IDA | 27103069 |
Pathways & Interactions for SMCR8 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Pathways of neurodegeneration - multiple diseases | ||
| 2 | Autophagy - animal | ||
Pathways by source for SMCR8 Gene
3 KEGG pathways for SMCR8 Gene
Interacting Proteins for SMCR8 Gene
Selected Interacting proteins:
Q8TEV9-SMCR8_HUMAN
ENSP00000385025
for SMCR8 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for SMCR8
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006469 | negative regulation of protein kinase activity | IMP | 28195531 |
| GO:0006914 | autophagy | IEA | -- |
| GO:0010506 | regulation of autophagy | IEA,IMP | 27103069 |
| GO:0010629 | negative regulation of gene expression | IMP | 28195531 |
| GO:0016242 | negative regulation of macroautophagy | IMP | 28195531 |
Transcripts for SMCR8 Gene
mRNA/cDNA for SMCR8 Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000406438 8297 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMCR8 - Starting at $85 >
- * SMCR8 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMCR8
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMCR8
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMCR8
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMCR8
- Browse OriGene Inhibitory RNA Products For SMCR8
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMCR8
Clone products for research
- Applied Biological Materials (abm): Clones for SMCR8 - Starting at $45 >
- * SMCR8 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for SMCR8
- Addgene plasmids for SMCR8
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMCR8
Relevant External Links for SMCR8 Gene
- GeneLoc Exon Structure for
- SMCR8
Expression for SMCR8 Gene
This gene is overexpressed in Monocytes (23.7), Ovary (16.8), Frontal cortex (10.6), and Testis (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SMCR8 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMCR8
SOURCE GeneReport for Unigene cluster for SMCR8 Gene:
Hs.592944mRNA Expression by UniProt/SwissProt for SMCR8 Gene:
Q8TEV9-SMCR8_HUMAN
Tissue specificity:
Expressed in all tissues tested.
Evidence on tissue expression from TISSUES for SMCR8 Gene
- Eye(4.2)
- Nervous system(3.7)
- Intestine(2.8)
- Lung(2.7)
- Skin(2.4)
- Kidney(2.3)
- Thyroid gland(2.1)
Primer products for research
-
OriGene qPCR primer pairs for SMCR8
Gene Expression Assays for research
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMCR8 Gene
Orthologs for SMCR8 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SMCR8 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SMCR8 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Smcr8 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Smcr8 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SMCR8 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | SMCR8 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SMCR8 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SMCR8 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SMCR8 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smcr8 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | smcr8a 30 31 |
|
OneToMany | |
| smcr8b 31 |
|
OneToMany |
- Species where no ortholog for SMCR8 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for SMCR8 Gene
- ENSEMBL:
- Gene Tree for SMCR8 (if available)
- TreeFam:
- Gene Tree for SMCR8 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMCR8: view image
Paralogs for SMCR8 Gene
No data available for Paralogs for SMCR8 Gene
Variants for SMCR8 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMCR8 Gene
| SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 982661 | Uncertain Significance: Neurodevelopmental disorder | 18,322,660(+) |
C/T NM_144775.3(SMCR8):c.2404C>T (p.Arg802Cys) |
MISSENSE | |
| rs79875842 | Benign: not provided | 18,316,954(+) |
A/G NM_144775.3(SMCR8):c.1165A>G (p.Ile389Val) |
MISSENSE | |
| rs12449313 | - |
p.Asn636Ser |
|||
| rs1563632 | - |
p.Arg556His |
|||
| rs8080966 | - |
p.Pro524Leu |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.54;
85.99% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMCR8 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- SMCR8
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMCR8 Gene
Disorders for SMCR8 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| smith-magenis syndrome |
|
|
| dermatopathia pigmentosa reticularis |
|
|
| autosomal dominant non-syndromic intellectual disability 2 |
|
|
| birt-hogg-dube syndrome |
|
|
| frontotemporal dementia and/or amyotrophic lateral sclerosis 1 |
|
|
Search SMCR8 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for SMCR8
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for SMCR8 Gene
Publications for SMCR8 Gene
- Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death. (PMID: 27103069) Sellier C … Charlet-Berguerand N (The EMBO journal 2016) 2 3 4
- Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease. (PMID: 23248642) Zhang D … Aravind L (Frontiers in genetics 2012) 2 3 4
- Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PMID: 11997338) Bi W … Lupski JR (Genome research 2002) 2 3 4
- Multiplex image-based autophagy RNAi screening identifies SMCR8 as ULK1 kinase activity and gene expression regulator. (PMID: 28195531) Jung J … Behrends C (eLife 2017) 3 4
- C9orf72 binds SMCR8, localizes to lysosomes, and regulates mTORC1 signaling. (PMID: 27559131) Amick J … Ferguson SM (Molecular biology of the cell 2016) 3 4
ExternalLinks
Products for SMCR8 Gene
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Sources for SMCR8 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
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