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Aliases for SMIM11A Gene

Aliases for SMIM11A Gene

  • Small Integral Membrane Protein 11A 2 3 5
  • Family With Sequence Similarity 165, Member B 2 3
  • Small Integral Membrane Protein 11 2 3
  • C21orf51 3 4
  • FAM165B 3 4
  • SMIM11 3 4
  • Chromosome 21 Open Reading Frame 51 2
  • Protein FAM165B 3
  • SMIM11B 3

External Ids for SMIM11A Gene

Previous HGNC Symbols for SMIM11A Gene

  • C21orf51
  • FAM165B
  • SMIM11

Summaries for SMIM11A Gene

GeneCards Summary for SMIM11A Gene

SMIM11A (Small Integral Membrane Protein 11A) is a Protein Coding gene. An important paralog of this gene is SMIM11B.

Additional gene information for SMIM11A Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SMIM11A Gene

Genomics for SMIM11A Gene

GeneHancer (GH) Regulatory Elements for SMIM11A Gene

Promoters and enhancers for SMIM11A Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I034373 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 555.5 -0.4 -400 4 HDGF ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 ZNF207 ZNF143 SP3 SMIM11A LOC105372791 KCNE2
GH21I034379 Promoter/Enhancer 0.7 EPDnew dbSUPER 550.8 +4.0 4001 0.1 SMIM11A C21orf140
GH21I035040 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 +671.2 671174 11.8 HDGF PKNOX1 ARID4B FEZF1 ZNF2 IRF4 ZNF766 CBX5 ZNF302 ZNF143 RUNX1 SMIM11A RPL23AP3 C21orf140 RUNX1-IT1 GC21M035098
GH21I034200 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 10.5 -172.6 -172614 5.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF416 ZNF143 TMEM50B DONSON SON GART SMIM11A C21orf140 MRPS6 ENSG00000214955 GC21P034168 ENSG00000272657
GH21I034459 Promoter 1.3 EPDnew Ensembl 11.2 +84.3 84251 0.6 KLF1 SP3 SP5 TCF7 EZH2 KCNE1 LOC105372791 SMIM11A KCNE2 SMIM34A RCAN1 C21orf140 ENSG00000221398 GC21M034457 LOC105372792
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SMIM11A on UCSC Golden Path with GeneCards custom track

Genomic Locations for SMIM11A Gene

Genomic Locations for SMIM11A Gene
chr21:34,375,450-34,407,866
(GRCh38/hg38)
Size:
32,417 bases
Orientation:
Plus strand
chr21:35,747,749-35,780,164
(GRCh37/hg19)

Genomic View for SMIM11A Gene

Genes around SMIM11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SMIM11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMIM11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SMIM11A Gene

Proteins for SMIM11A Gene

  • Protein details for SMIM11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58511-SI11A_HUMAN
    Recommended name:
    Small integral membrane protein 11A
    Protein Accession:
    P58511

    Protein attributes for SMIM11A Gene

    Size:
    58 amino acids
    Molecular mass:
    6886 Da
    Quaternary structure:
    No Data Available

neXtProt entry for SMIM11A Gene

Post-translational modifications for SMIM11A Gene

No Post-translational modifications

Other Protein References for SMIM11A Gene

No data available for DME Specific Peptides for SMIM11A Gene

Domains & Families for SMIM11A Gene

Gene Families for SMIM11A Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for SMIM11A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SMIM11A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P58511

UniProtKB/Swiss-Prot:

SI11A_HUMAN :
  • Belongs to the SMIM11 family.
Family:
  • Belongs to the SMIM11 family.
genes like me logo Genes that share domains with SMIM11A: view

Function for SMIM11A Gene

Phenotypes From GWAS Catalog for SMIM11A Gene

Gene Ontology (GO) - Molecular Function for SMIM11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with SMIM11A: view

miRNA for SMIM11A Gene

miRTarBase miRNAs that target SMIM11A

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SMIM11A Gene

Localization for SMIM11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SMIM11A Gene

Membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SMIM11A gene
Compartment Confidence
extracellular 3
plasma membrane 1
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Focal adhesion sites (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SMIM11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SMIM11A: view

Pathways & Interactions for SMIM11A Gene

SuperPathways for SMIM11A Gene

No Data Available

Interacting Proteins for SMIM11A Gene

Selected Interacting proteins: P58511-SI11A_HUMAN for SMIM11A Gene via IID

Gene Ontology (GO) - Biological Process for SMIM11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SMIM11A: view

No data available for Pathways by source and SIGNOR curated interactions for SMIM11A Gene

Drugs & Compounds for SMIM11A Gene

No Compound Related Data Available

Transcripts for SMIM11A Gene

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for SMIM11A Gene

No ASD Table

Relevant External Links for SMIM11A Gene

GeneLoc Exon Structure for
SMIM11A
ECgene alternative splicing isoforms for
SMIM11A

Expression for SMIM11A Gene

NURSA nuclear receptor signaling pathways regulating expression of SMIM11A Gene:

SMIM11A

mRNA Expression by UniProt/SwissProt for SMIM11A Gene:

P58511-SI11A_HUMAN
Tissue specificity: Expressed in heart, spleen, liver, stomach, muscle, lung, testis, skin, PBL and bone marrow.

Evidence on tissue expression from TISSUES for SMIM11A Gene

  • Eye(4)
  • Nervous system(2.1)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMIM11A Gene

Orthologs for SMIM11A Gene

This gene was present in the common ancestor of chordates.

Orthologs for SMIM11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM165B 33
  • 99.43 (n)
SMIM11 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SMIM11 34
  • 95 (a)
OneToOne
FAM165B 33
  • 86.21 (n)
mouse
(Mus musculus)
Mammalia Smim11 34
  • 84 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SMIM11 33 34
  • 79.31 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SMIM11 34
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SMIM11 34
  • 74 (a)
OneToOne
Species where no ortholog for SMIM11A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SMIM11A Gene

ENSEMBL:
Gene Tree for SMIM11A (if available)
TreeFam:
Gene Tree for SMIM11A (if available)

Paralogs for SMIM11A Gene

Paralogs for SMIM11A Gene

Pseudogenes.org Pseudogenes for SMIM11A Gene

genes like me logo Genes that share paralogs with SMIM11A: view

Variants for SMIM11A Gene

Sequence variations from dbSNP and Humsavar for SMIM11A Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000433146 -- 34,379,902(+) C/T intron_variant
rs1000480507 -- 34,400,211(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000543679 -- 34,375,203(+) C/T upstream_transcript_variant
rs1001007357 -- 34,390,816(+) T/TT genic_downstream_transcript_variant, intron_variant
rs1001419236 -- 34,379,172(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SMIM11A Gene

Variant ID Type Subtype PubMed ID
dgv4426n100 CNV gain 25217958
dgv7824n54 CNV gain 21841781
esv2762109 CNV gain 21179565
esv3575386 CNV gain 25503493
nsv1055429 CNV gain 25217958
nsv521323 CNV gain 19592680
nsv834088 CNV loss 17160897

Variation tolerance for SMIM11A Gene

Residual Variation Intolerance Score: 69.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SMIM11A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMIM11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMIM11A Gene

Disorders for SMIM11A Gene

No disorders were found for SMIM11A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SMIM11A Gene

Publications for SMIM11A Gene

  1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  2. Annotation of human chromosome 21 for relevance to Down syndrome: gene structure and expression analysis. (PMID: 12036298) Gardiner K … Davisson M (Genomics 2002) 3 4 58
  3. From PREDs and open reading frames to cDNA isolation: revisiting the human chromosome 21 transcription map. (PMID: 11707072) Reymond A … Antonarakis SE (Genomics 2001) 3 4 58
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 4 58
  5. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PMID: 21832049) Oláh J … Ovádi J (The Journal of biological chemistry 2011) 3 58

Products for SMIM11A Gene

Sources for SMIM11A Gene

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