Aliases for IGSF22 Gene

Aliases for IGSF22 Gene

  • Immunoglobulin Superfamily Member 22 2 3 4 5
  • Immunoglobulin Superfamily, Member 22 2
  • IgSF22 4
  • IGFN2 3

External Ids for IGSF22 Gene

Previous GeneCards Identifiers for IGSF22 Gene

  • GC11M018410

Summaries for IGSF22 Gene

GeneCards Summary for IGSF22 Gene

IGSF22 (Immunoglobulin Superfamily Member 22) is a Protein Coding gene. An important paralog of this gene is MYBPC2.

Additional gene information for IGSF22 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGSF22 Gene

Genomics for IGSF22 Gene

GeneHancer (GH) Regulatory Elements for IGSF22 Gene

Promoters and enhancers for IGSF22 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
GH11J018727 Enhancer 0.8 Ensembl ENCODE 750.6 -1.5 -1471 1 CTCF TRIM22 ZNF143 ZNF316 ZBTB20 RAD21 SMC3 IRF4 ZFP64 VEZF1 IGSF22 lnc-PTPN5-1 piR-37544 ENSG00000254966 PTPN5
GH11J018726 Promoter/Enhancer 0.6 EPDnew Ensembl 750.6 -0.1 -71 0.6 SCRT2 IGSF22 lnc-PTPN5-1 piR-37544 ENSG00000254966
GH11J018525 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 +199.1 199129 3.4 SIN3A ZBTB40 RBPJ POLR2A ATF1 CREB1 HCFC1 RUNX1 MYC ETV6 TSG101 lnc-UEVLD-6 lnc-LDHAL6A-1 SAAL1 GTF2H1 SPTY2D1 ENSG00000256282 ENSG00000256588 ENSG00000256361 LDHC
GH11J018633 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10 +92.1 92130 3 SIN3A SP1 ZBTB40 MLX SMARCE1 RBPJ POLR2A USF2 HDAC2 ATF1 SPTY2D1 LOC105376578 lnc-SPTY2D1OS-4-001 lnc-SPTY2D1OS-4-002 SAAL1 ENSG00000256282 ENSG00000256361 TSG101 GTF2H1 SPTY2D1OS
GH11J018705 Promoter/Enhancer 1.2 Ensembl ENCODE CraniofacialAtlas 12.8 +19.7 19728 2.2 POLR2A ZNF316 CTBP1 CREB1 NR2F2 CTCF ATF1 ZBTB33 ENSG00000254966 LOC105376579 IGSF22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGSF22 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the IGSF22 gene promoter:
  • AREB6
  • Egr-1
  • Evi-1
  • HTF
  • Lmo2
  • Max1
  • MyoD
  • MZF-1
  • NF-kappaB1
  • TBP

Genomic Locations for IGSF22 Gene

Genomic Locations for IGSF22 Gene
chr11:18,704,305-18,726,230
(GRCh38/hg38)
Size:
21,926 bases
Orientation:
Minus strand
chr11:18,725,852-18,747,777
(GRCh37/hg19)
Size:
21,926 bases
Orientation:
Minus strand

Genomic View for IGSF22 Gene

Genes around IGSF22 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGSF22 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGSF22 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGSF22 Gene

Proteins for IGSF22 Gene

  • Protein details for IGSF22 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9C0-IGS22_HUMAN
    Recommended name:
    Immunoglobulin superfamily member 22
    Protein Accession:
    Q8N9C0
    Secondary Accessions:
    • A6NNA0
    • D6RGV7

    Protein attributes for IGSF22 Gene

    Size:
    903 amino acids
    Molecular mass:
    100400 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for IGSF22 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGSF22 Gene

Post-translational modifications for IGSF22 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IGSF22 Gene

No data available for DME Specific Peptides for IGSF22 Gene

Domains & Families for IGSF22 Gene

Gene Families for IGSF22 Gene

Protein Domains for IGSF22 Gene

Suggested Antigen Peptide Sequences for IGSF22 Gene

GenScript: Design optimal peptide antigens:
  • Immunoglobulin superfamily member 22 (IGS22_HUMAN)
genes like me logo Genes that share domains with IGSF22: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGSF22 Gene

Function for IGSF22 Gene

Phenotypes From GWAS Catalog for IGSF22 Gene

Gene Ontology (GO) - Molecular Function for IGSF22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008307 structural constituent of muscle IBA 21873635
GO:0051015 actin filament binding IBA 21873635
GO:0051371 muscle alpha-actinin binding IBA 21873635
genes like me logo Genes that share ontologies with IGSF22: view
genes like me logo Genes that share phenotypes with IGSF22: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for IGSF22 Gene

Localization for IGSF22 Gene

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 IGSF22 gene
Compartment Confidence
cytoskeleton 3
nucleus 2
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for IGSF22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005865 striated muscle thin filament IBA 21873635
GO:0030017 sarcomere IBA 21873635
GO:0030018 Z disc IBA 21873635
GO:0031430 M band IBA 21873635
genes like me logo Genes that share ontologies with IGSF22: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for IGSF22 Gene

Pathways & Interactions for IGSF22 Gene

PathCards logo

SuperPathways for IGSF22 Gene

No Data Available

Gene Ontology (GO) - Biological Process for IGSF22 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IBA 21873635
GO:0030240 skeletal muscle thin filament assembly IBA 21873635
GO:0030241 skeletal muscle myosin thick filament assembly IBA 21873635
GO:0045214 sarcomere organization IBA 21873635
GO:0048739 cardiac muscle fiber development IBA 21873635
genes like me logo Genes that share ontologies with IGSF22: view

No data available for Pathways by source and SIGNOR curated interactions for IGSF22 Gene

Drugs & Compounds for IGSF22 Gene

No Compound Related Data Available

Transcripts for IGSF22 Gene

mRNA/cDNA for IGSF22 Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGSF22 Gene

No ASD Table

Relevant External Links for IGSF22 Gene

GeneLoc Exon Structure for
IGSF22
ECgene alternative splicing isoforms for
IGSF22

Expression for IGSF22 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for IGSF22 Gene

Protein differential expression in normal tissues from HIPED for IGSF22 Gene

This gene is overexpressed in Serum (59.4) and Plasma (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGSF22 Gene



Protein tissue co-expression partners for IGSF22 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IGSF22 Gene:

IGSF22

SOURCE GeneReport for Unigene cluster for IGSF22 Gene:

Hs.434152

Evidence on tissue expression from TISSUES for IGSF22 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with IGSF22: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGSF22 Gene

Orthologs for IGSF22 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGSF22 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGSF22 33
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGSF22 33 32
  • 90.16 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IGSF22 33
  • 89 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 24 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia IGSF22 33
  • 74 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 25 (a)
ManyToMany
Species where no ortholog for IGSF22 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)
  • cow (Bos Taurus)
  • 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)
  • mouse (Mus musculus)
  • 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 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 IGSF22 Gene

ENSEMBL:
Gene Tree for IGSF22 (if available)
TreeFam:
Gene Tree for IGSF22 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGSF22: view image

Paralogs for IGSF22 Gene

Paralogs for IGSF22 Gene

(2) SIMAP similar genes for IGSF22 Gene using alignment to 1 proteins:

  • IGS22_HUMAN
genes like me logo Genes that share paralogs with IGSF22: view

Variants for IGSF22 Gene

Sequence variations from dbSNP and Humsavar for IGSF22 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000002455 -- 18,713,766(-) G/C intron_variant
rs1000029786 -- 18,717,364(-) A/C intron_variant
rs1000033826 -- 18,713,951(-) T/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000161450 -- 18,719,513(-) C/T intron_variant
rs1000306632 -- 18,726,244(-) T/C 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for IGSF22 Gene

Variant ID Type Subtype PubMed ID
esv25440 CNV loss 19812545
nsv1047371 CNV gain 25217958
nsv525192 CNV loss 19592680
nsv525452 CNV gain 19592680
nsv553633 CNV gain 21841781
nsv825774 CNV loss 20364138

Variation tolerance for IGSF22 Gene

Residual Variation Intolerance Score: 98.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.86; 98.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IGSF22 Gene

Human Gene Mutation Database (HGMD)
IGSF22
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGSF22

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGSF22 Gene

Disorders for IGSF22 Gene

Additional Disease Information for IGSF22

No disorders were found for IGSF22 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for IGSF22 Gene

Publications for IGSF22 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 56
  3. Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. (PMID: 21248752) Varela I … Futreal PA (Nature 2011) 4 56
  4. Screening disease-associated proteins from sera of patients with rheumatoid arthritis: a comparative proteomic study. (PMID: 20367977) Li TW … Gu JR (Chinese medical journal 2010) 23 56
  5. Serum disease-associated proteins of ankylosing spondylitis: results of a preliminary study by comparative proteomics. (PMID: 20483041) Li T … Gu J (Clinical and experimental rheumatology 2010) 23 56

Products for IGSF22 Gene

Sources for IGSF22 Gene