Aliases for IGSF10 Gene

Aliases for IGSF10 Gene

  • Immunoglobulin Superfamily Member 10 2 3 4 5
  • Calvaria Mechanical Force Protein 608 3 4
  • CMF608 3 4
  • Immunoglobulin Superfamily, Member 10 2
  • IgSF10 4

External Ids for IGSF10 Gene

Previous GeneCards Identifiers for IGSF10 Gene

  • GC03M152476
  • GC03M152637
  • GC03M151143
  • GC03M148533

Summaries for IGSF10 Gene

GeneCards Summary for IGSF10 Gene

IGSF10 (Immunoglobulin Superfamily Member 10) is a Protein Coding gene. Diseases associated with IGSF10 include Phosphoglycerate Dehydrogenase Deficiency and Duodenal Somatostatinoma. An important paralog of this gene is HMCN2.

UniProtKB/Swiss-Prot Summary for IGSF10 Gene

  • Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons) (By similarity). May be involved in the maintenance of osteochondroprogenitor cells pool (By similarity).

Additional gene information for IGSF10 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IGSF10 Gene

Genomics for IGSF10 Gene

GeneHancer (GH) Regulatory Elements for IGSF10 Gene

Promoters and enhancers for IGSF10 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
GH03J151537 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE 507.3 +81.5 81503 2 USF1 MAX ZNF592 SPI1 E2F6 REST POLR2A L3MBTL2 RNF2 MZF1 IGSF10 LINC02066 piR-40476-048 MIR5186 AADACL2-AS1
GH03J151460 Promoter 0.9 EPDnew CraniofacialAtlas 500.1 +159.4 159441 0.3 NFIC NFIB PATZ1 IGSF10 P2RY12 lnc-MED12L-3 piR-34822-234
GH03J151462 Promoter 0.8 EPDnew 500.1 +158.8 158849 0.1 USF1 ZBTB26 EZH2 SP2 ZFHX2 ZNF335 ZNF398 SP3 ZBTB8A ZSCAN21 IGSF10 lnc-MED12L-3 piR-34822-234
GH03J151461 Promoter 0.7 EPDnew 500.1 +159.2 159178 0.1 ZBTB26 EZH2 SP2 ZFHX2 ZNF335 ZNF398 SP3 ZBTB8A ZSCAN21 GLIS2 IGSF10 lnc-MED12L-3 piR-34822-234
GH03J151440 Promoter/Enhancer 0.5 EPDnew Ensembl 500.1 +178.9 178940 0.4 IGSF10 lnc-P2RY12-1 lnc-MED12L-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IGSF10 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IGSF10

Top Transcription factor binding sites by QIAGEN in the IGSF10 gene promoter:
  • aMEF-2
  • AML1a
  • E47
  • FOXD1
  • MEF-2A
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Olf-1
  • Tal-1beta

Genomic Locations for IGSF10 Gene

Genomic Locations for IGSF10 Gene
chr3:151,425,384-151,619,926
(GRCh38/hg38)
Size:
194,543 bases
Orientation:
Minus strand
chr3:151,143,172-151,176,497
(GRCh37/hg19)
Size:
33,326 bases
Orientation:
Minus strand

Genomic View for IGSF10 Gene

Genes around IGSF10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGSF10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IGSF10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGSF10 Gene

Proteins for IGSF10 Gene

  • Protein details for IGSF10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6WRI0-IGS10_HUMAN
    Recommended name:
    Immunoglobulin superfamily member 10
    Protein Accession:
    Q6WRI0
    Secondary Accessions:
    • Q86YJ9
    • Q8N772
    • Q8NA84

    Protein attributes for IGSF10 Gene

    Size:
    2623 amino acids
    Molecular mass:
    290838 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC05429.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for IGSF10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGSF10 Gene

Post-translational modifications for IGSF10 Gene

  • Glycosylation at Asn2101, Asn319, Asn439, Asn627, Asn774, Asn999, Thr1630, Asn1899, and Asn1962
  • Modification sites at PhosphoSitePlus

Other Protein References for IGSF10 Gene

No data available for DME Specific Peptides for IGSF10 Gene

Domains & Families for IGSF10 Gene

Gene Families for IGSF10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for IGSF10 Gene

Blocks:
  • Immunoglobulin subtype
  • Cysteine-rich flanking region, C-terminal
  • Cysteine-rich flanking region, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IGSF10 Gene

GenScript: Design optimal peptide antigens:
  • Calvaria mechanical force protein 608 (IGS10_HUMAN)
  • cDNA FLJ46283 fis, clone TESTI4031173 (Q6ZRK5_HUMAN)
genes like me logo Genes that share domains with IGSF10: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for IGSF10 Gene

Function for IGSF10 Gene

Molecular function for IGSF10 Gene

UniProtKB/Swiss-Prot Function:
Involved in the control of early migration of neurons expressing gonadotropin-releasing hormone (GNRH neurons) (By similarity). May be involved in the maintenance of osteochondroprogenitor cells pool (By similarity).

Phenotypes From GWAS Catalog for IGSF10 Gene

Gene Ontology (GO) - Molecular Function for IGSF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with IGSF10: view
genes like me logo Genes that share phenotypes with IGSF10: view

Animal Model Products

  • Taconic Biosciences Mouse Models for IGSF10

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for IGSF10 Gene

Localization for IGSF10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGSF10 Gene

Secreted.

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 IGSF10 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytoskeleton 2
nucleus 2
endoplasmic reticulum 1
golgi apparatus 1
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IGSF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IDA,IBA 27137492
genes like me logo Genes that share ontologies with IGSF10: view

Pathways & Interactions for IGSF10 Gene

PathCards logo

SuperPathways for IGSF10 Gene

No Data Available

Interacting Proteins for IGSF10 Gene

;

Gene Ontology (GO) - Biological Process for IGSF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001503 ossification IEA --
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:2001222 regulation of neuron migration IEA,ISS --
genes like me logo Genes that share ontologies with IGSF10: view

No data available for Pathways by source and SIGNOR curated interactions for IGSF10 Gene

Drugs & Compounds for IGSF10 Gene

(1) Drugs for IGSF10 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 20
genes like me logo Genes that share compounds with IGSF10: view

Transcripts for IGSF10 Gene

mRNA/cDNA for IGSF10 Gene

3 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
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 IGSF10 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b · 7c
SP1: - - -
SP2: -
SP3:

Relevant External Links for IGSF10 Gene

GeneLoc Exon Structure for
IGSF10

Expression for IGSF10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IGSF10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGSF10 Gene

This gene is overexpressed in Ovary (x12.4) and Lung (x6.1).

Protein differential expression in normal tissues from HIPED for IGSF10 Gene

This gene is overexpressed in Serum (61.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for IGSF10 Gene



Protein tissue co-expression partners for IGSF10 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IGSF10

SOURCE GeneReport for Unigene cluster for IGSF10 Gene:

Hs.58561
genes like me logo Genes that share expression patterns with IGSF10: view

No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for IGSF10 Gene

Orthologs for IGSF10 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGSF10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGSF10 31 30
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 31
  • 89 (a)
OneToMany
IGSF10 31 30
  • 82.08 (n)
OneToMany
dog
(Canis familiaris)
Mammalia IGSF10 31 30
  • 84.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Igsf10 17 31 30
  • 76.26 (n)
rat
(Rattus norvegicus)
Mammalia Igsf10 30
  • 75.31 (n)
oppossum
(Monodelphis domestica)
Mammalia IGSF10 31
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IGSF10 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves IGSF10 31 30
  • 60.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IGSF10 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia igsf10 30
  • 62.86 (n)
zebrafish
(Danio rerio)
Actinopterygii IGSF10 31
  • 39 (a)
OneToOne
Species where no ortholog for IGSF10 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)
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for IGSF10 Gene

ENSEMBL:
Gene Tree for IGSF10 (if available)
TreeFam:
Gene Tree for IGSF10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IGSF10: view image

Paralogs for IGSF10 Gene

(1) SIMAP similar genes for IGSF10 Gene using alignment to 2 proteins:

  • IGS10_HUMAN
  • H7C4M2_HUMAN
genes like me logo Genes that share paralogs with IGSF10: view

Variants for IGSF10 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IGSF10 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
708167 Likely Benign: not provided 151,447,769(-) TAA/T NONSENSE
708312 Benign: not provided 151,436,721(-) C/T MISSENSE_VARIANT
710624 Benign: not provided 151,445,345(-) G/A SYNONYMOUS_VARIANT
712512 Likely Benign: not provided 151,437,207(-) G/GTGAT FRAMESHIFT_VARIANT
712513 Likely Benign: not provided 151,453,632(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for IGSF10 Gene

Structural Variations from Database of Genomic Variants (DGV) for IGSF10 Gene

Variant ID Type Subtype PubMed ID
nsv4063 CNV insertion 18451855
nsv508960 CNV insertion 20534489
nsv829757 CNV loss 17160897

Variation tolerance for IGSF10 Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.96; 74.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IGSF10 Gene

Human Gene Mutation Database (HGMD)
IGSF10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IGSF10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGSF10 Gene

Disorders for IGSF10 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IGSF10 Gene - From: DISEASES

Disorder Aliases PubMed IDs
phosphoglycerate dehydrogenase deficiency
  • phgdhd
duodenal somatostatinoma
  • duodenal delta cell somatostatin producing tumor
kallmann syndrome
  • hypogonadotropic hypogonadism and anosmia
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IGS10_HUMAN
  • Note=Mutations in IGSF10 may be a cause of self-limited delayed puberty. This common condition is defined as the absence of testicular enlargement in boys or breast development in girls at an age that is 2-2.5 standard deviations later than the population mean. Self-limited delayed puberty segregates within families, with the majority of families displaying an autosomal dominant pattern of inheritance. {ECO:0000269 PubMed:27137492}.

Additional Disease Information for IGSF10

genes like me logo Genes that share disorders with IGSF10: view

No data available for Genatlas for IGSF10 Gene

Publications for IGSF10 Gene

  1. IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty. (PMID: 27137492) Howard SR … Dunkel L (EMBO molecular medicine 2016) 2 3 4 54
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54
  4. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. (PMID: 29676528) Khanna R … Parnaik VK (The FEBS journal 2018) 3 54
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54

Products for IGSF10 Gene

Sources for IGSF10 Gene