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IGSF10 immunoglobulin superfamily member 10 [ Homo sapiens (human) ]

Gene ID: 285313, updated on 5-May-2024

Summary

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Official Symbol
IGSF10provided by HGNC
Official Full Name
immunoglobulin superfamily member 10provided by HGNC
Primary source
HGNC:HGNC:26384
See related
Ensembl:ENSG00000152580 MIM:617351; AllianceGenome:HGNC:26384
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CMF608
Summary
Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in gall bladder (RPKM 9.0), ovary (RPKM 8.9) and 19 other tissues See more
Orthologs
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Genomic context

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Location:
3q25.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (151432432..151619925, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (154193223..154376990, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (151153991..151257104, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 12L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20701 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:151110665-151111260 Neighboring gene purinergic receptor P2Y13 Neighboring gene purinergic receptor P2Y12 Neighboring gene Sharpr-MPRA regulatory region 9761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201363-151201864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201865-151202364 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 6 Neighboring gene MPRA-validated peak4860 silencer Neighboring gene long intergenic non-protein coding RNA 2066 Neighboring gene uncharacterized LOC105374157 Neighboring gene microRNA 5186 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:151467502-151468701 Neighboring gene AADACL2 antisense RNA 1 Neighboring gene arylacetamide deacetylase like 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). Budny B, et al. Front Endocrinol (Lausanne), 2020. PMID 32612575, Free PMC Article
  2. IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty. Howard SR, et al. EMBO Mol Med, 2016 Jun. PMID 27137492, Free PMC Article
  3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
  5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IGSF10 inhibits the metastasis of lung adenocarcinoma via the Spi-B/Integrin-beta1 signaling pathway.
    Title: IGSF10 inhibits the metastasis of lung adenocarcinoma via the Spi-B/Integrin-β1 signaling pathway.
  2. SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
    Title: SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
  3. These data strongly suggest that mutations in IGSF10 cause delayed puberty in humans, and points to a common genetic basis for conditions of functional hypogonadotropic hypogonadism (HH).
    Title: IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25972

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in ossification IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of neuron migration ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
is_active_in extracellular region IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
immunoglobulin superfamily member 10
Names
calvaria mechanical force protein 608

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001178145.3 → NP_001171616.2  immunoglobulin superfamily member 10 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC024886
    Related
    ENST00000495443.1
    Conserved Domains (3) summary
    pfam13927
    Location:410 → 489
    Ig_3; Immunoglobulin domain
    cd00096
    Location:420 → 424
    Ig; putative Ig strand A' [structural motif]
    cl11960
    Location:120 → 203
    Ig; Immunoglobulin domain

  2. NM_001178146.3 → NP_001171617.1  immunoglobulin superfamily member 10 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC024886
    UniProtKB/Swiss-Prot
    Q6WRI0
    Related
    ENST00000493841.1
    Conserved Domains (3) summary
    pfam13927
    Location:410 → 489
    Ig_3; Immunoglobulin domain
    cd00096
    Location:420 → 424
    Ig; putative Ig strand A' [structural motif]
    cl11960
    Location:120 → 203
    Ig; Immunoglobulin domain

  3. NM_001385060.1 → NP_001371989.1  immunoglobulin superfamily member 10 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC024886, AC117454
    Consensus CDS
    CCDS3160.1
    UniProtKB/Swiss-Prot
    Q6WRI0, Q86YJ9, Q8N772, Q8NA84
    Conserved Domains (10) summary
    TIGR00864
    Location:192 → 317
    PCC; polycystin cation channel protein
    smart00013
    Location:28 → 60
    LRRNT; Leucine rich repeat N-terminal domain
    smart00409
    Location:582 → 662
    IG; Immunoglobulin
    sd00033
    Location:39 → 58
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05109
    Location:1293 → 1667
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam13855
    Location:81 → 141
    LRR_8; Leucine rich repeat
    pfam13927
    Location:2431 → 2510
    Ig_3; Immunoglobulin domain
    cd00096
    Location:2441 → 2445
    Ig; putative Ig strand A' [structural motif]
    cd21340
    Location:76 → 220
    PPP1R42; protein phosphatase 1 regulatory subunit 42
    cl11960
    Location:1744 → 1837
    Ig; Immunoglobulin domain

  4. NM_001385061.1 → NP_001371990.1  immunoglobulin superfamily member 10 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC024886, AC117454
    Consensus CDS
    CCDS3160.1
    UniProtKB/Swiss-Prot
    Q6WRI0, Q86YJ9, Q8N772, Q8NA84
    Conserved Domains (10) summary
    TIGR00864
    Location:192 → 317
    PCC; polycystin cation channel protein
    smart00013
    Location:28 → 60
    LRRNT; Leucine rich repeat N-terminal domain
    smart00409
    Location:582 → 662
    IG; Immunoglobulin
    sd00033
    Location:39 → 58
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05109
    Location:1293 → 1667
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam13855
    Location:81 → 141
    LRR_8; Leucine rich repeat
    pfam13927
    Location:2431 → 2510
    Ig_3; Immunoglobulin domain
    cd00096
    Location:2441 → 2445
    Ig; putative Ig strand A' [structural motif]
    cd21340
    Location:76 → 220
    PPP1R42; protein phosphatase 1 regulatory subunit 42
    cl11960
    Location:1744 → 1837
    Ig; Immunoglobulin domain

  5. NM_001385062.1 → NP_001371991.1  immunoglobulin superfamily member 10 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC024886, AC117454
    Consensus CDS
    CCDS3160.1
    UniProtKB/Swiss-Prot
    Q6WRI0, Q86YJ9, Q8N772, Q8NA84
    Conserved Domains (10) summary
    TIGR00864
    Location:192 → 317
    PCC; polycystin cation channel protein
    smart00013
    Location:28 → 60
    LRRNT; Leucine rich repeat N-terminal domain
    smart00409
    Location:582 → 662
    IG; Immunoglobulin
    sd00033
    Location:39 → 58
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05109
    Location:1293 → 1667
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam13855
    Location:81 → 141
    LRR_8; Leucine rich repeat
    pfam13927
    Location:2431 → 2510
    Ig_3; Immunoglobulin domain
    cd00096
    Location:2441 → 2445
    Ig; putative Ig strand A' [structural motif]
    cd21340
    Location:76 → 220
    PPP1R42; protein phosphatase 1 regulatory subunit 42
    cl11960
    Location:1744 → 1837
    Ig; Immunoglobulin domain

  6. NM_001385063.1 → NP_001371992.1  immunoglobulin superfamily member 10 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC024886, AC117454
    Consensus CDS
    CCDS3160.1
    UniProtKB/Swiss-Prot
    Q6WRI0, Q86YJ9, Q8N772, Q8NA84
    Conserved Domains (10) summary
    TIGR00864
    Location:192 → 317
    PCC; polycystin cation channel protein
    smart00013
    Location:28 → 60
    LRRNT; Leucine rich repeat N-terminal domain
    smart00409
    Location:582 → 662
    IG; Immunoglobulin
    sd00033
    Location:39 → 58
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05109
    Location:1293 → 1667
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam13855
    Location:81 → 141
    LRR_8; Leucine rich repeat
    pfam13927
    Location:2431 → 2510
    Ig_3; Immunoglobulin domain
    cd00096
    Location:2441 → 2445
    Ig; putative Ig strand A' [structural motif]
    cd21340
    Location:76 → 220
    PPP1R42; protein phosphatase 1 regulatory subunit 42
    cl11960
    Location:1744 → 1837
    Ig; Immunoglobulin domain

  7. NM_178822.5 → NP_849144.2  immunoglobulin superfamily member 10 isoform 1 precursor

    See identical proteins and their annotated locations for NP_849144.2

    Status: VALIDATED

    Source sequence(s)
    AC024886
    Consensus CDS
    CCDS3160.1
    UniProtKB/Swiss-Prot
    Q6WRI0, Q86YJ9, Q8N772, Q8NA84
    Related
    ENSP00000282466.3, ENST00000282466.4
    Conserved Domains (10) summary
    TIGR00864
    Location:192 → 317
    PCC; polycystin cation channel protein
    smart00013
    Location:28 → 60
    LRRNT; Leucine rich repeat N-terminal domain
    smart00409
    Location:582 → 662
    IG; Immunoglobulin
    sd00033
    Location:39 → 58
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05109
    Location:1293 → 1667
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam13855
    Location:81 → 141
    LRR_8; Leucine rich repeat
    pfam13927
    Location:2431 → 2510
    Ig_3; Immunoglobulin domain
    cd00096
    Location:2441 → 2445
    Ig; putative Ig strand A' [structural motif]
    cd21340
    Location:76 → 220
    PPP1R42; protein phosphatase 1 regulatory subunit 42
    cl11960
    Location:1744 → 1837
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    151432432..151619925 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047448015.1 → XP_047303971.1  immunoglobulin superfamily member 10 isoform X6

  2. XM_011512709.3 → XP_011511011.1  immunoglobulin superfamily member 10 isoform X2

    See identical proteins and their annotated locations for XP_011511011.1

    UniProtKB/Swiss-Prot
    Q6WRI0, Q86YJ9, Q8N772, Q8NA84
    Conserved Domains (10) summary
    TIGR00864
    Location:192 → 317
    PCC; polycystin cation channel protein
    smart00013
    Location:28 → 60
    LRRNT; Leucine rich repeat N-terminal domain
    smart00409
    Location:582 → 662
    IG; Immunoglobulin
    sd00033
    Location:39 → 58
    LRR_RI; leucine-rich repeat [structural motif]
    pfam05109
    Location:1293 → 1667
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    pfam13855
    Location:81 → 141
    LRR_8; Leucine rich repeat
    pfam13927
    Location:2431 → 2510
    Ig_3; Immunoglobulin domain
    cd00096
    Location:2441 → 2445
    Ig; putative Ig strand A' [structural motif]
    cd21340
    Location:76 → 220
    PPP1R42; protein phosphatase 1 regulatory subunit 42
    cl11960
    Location:1744 → 1837
    Ig; Immunoglobulin domain

  3. XM_011512708.3 → XP_011511010.1  immunoglobulin superfamily member 10 isoform X1

    Conserved Domains (8) summary
    smart00408
    Location:2228 → 2292
    IGc2; Immunoglobulin C-2 Type
    smart00082
    Location:291 → 309
    LRRCT; Leucine rich repeat C-terminal domain
    smart00409
    Location:2417 → 2500
    IG; Immunoglobulin
    smart00410
    Location:654 → 734
    IG_like; Immunoglobulin like
    pfam07679
    Location:2213 → 2296
    I-set; Immunoglobulin I-set domain
    sd00033
    Location:111 → 130
    LRR_RI; leucine-rich repeat [structural motif]
    pfam13855
    Location:153 → 213
    LRR_8; Leucine rich repeat
    cl11960
    Location:1740 → 1812
    Ig; Immunoglobulin domain

  4. XM_047448013.1 → XP_047303969.1  immunoglobulin superfamily member 10 isoform X4

  5. XM_047448011.1 → XP_047303967.1  immunoglobulin superfamily member 10 isoform X1

  6. XM_047448016.1 → XP_047303972.1  immunoglobulin superfamily member 10 isoform X7

  7. XM_047448014.1 → XP_047303970.1  immunoglobulin superfamily member 10 isoform X5

  8. XM_047448012.1 → XP_047303968.1  immunoglobulin superfamily member 10 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    154193223..154376990 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054346298.1 → XP_054202273.1  immunoglobulin superfamily member 10 isoform X2

  2. XM_054346297.1 → XP_054202272.1  immunoglobulin superfamily member 10 isoform X1

  3. XM_054346299.1 → XP_054202274.1  immunoglobulin superfamily member 10 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6WRI0.1 GenPept UniProtKB/Swiss-Prot:Q6WRI0

Gene LinkOut

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