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    IGDCC3 immunoglobulin superfamily DCC subclass member 3 [ Homo sapiens (human) ]

    Gene ID: 9543, updated on 10-Dec-2024

    Summary

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    Official Symbol
    IGDCC3provided by HGNC
    Official Full Name
    immunoglobulin superfamily DCC subclass member 3provided by HGNC
    Primary source
    HGNC:HGNC:9700
    See related
    Ensembl:ENSG00000174498 MIM:604184; AllianceGenome:HGNC:9700
    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
    PUNC; HsT18880
    Summary
    Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within neuromuscular process controlling balance. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in placenta (RPKM 4.0), testis (RPKM 2.0) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IGDCC3 in Genome Data Viewer
    Location:
    15q22.31
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (65327127..65378002, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (63136500..63187366, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (65619465..65670340, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr15:65588516-65589427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65593529-65594044 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6555 Neighboring gene RNA, U5A small nuclear 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9595 Neighboring gene RNA, U5B small nuclear 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65618173-65618716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65624736-65625408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65626438-65627016 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65627017-65627595 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65628175-65628752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65647365-65647867 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65647868-65648370 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65648371-65648873 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65655395-65656260 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65659717-65660580 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65660581-65661444 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:65677106-65677717 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9598 Neighboring gene immunoglobulin superfamily DCC subclass member 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65702937-65703594 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65707062-65707929 Neighboring gene uncharacterized LOC124903510 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:65710136-65710346 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9599 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9600 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:65715563-65716097 Neighboring gene dipeptidyl peptidase 8 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:65809274-65809827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9601

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Genomic structure and chromosomal localization of the mouse gene Punc. Salbaum JM. Mamm Genome, 1999 Feb. PMID 9922388
    2. Protein-protein interaction panel using mouse full-length cDNAs. Suzuki H, et al. Genome Res, 2001 Oct. PMID 11591653, Free PMC Article
    3. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in neuromuscular process controlling balance IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    immunoglobulin superfamily DCC subclass member 3
    Names
    putative neuronal cell adhesion molecule

    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_004884.4 → NP_004875.2  immunoglobulin superfamily DCC subclass member 3 precursor

      See identical proteins and their annotated locations for NP_004875.2

      Status: VALIDATED

      Source sequence(s)
      AC105129, AI740721, BC067107
      Consensus CDS
      CCDS10205.1
      UniProtKB/Swiss-Prot
      O95215, Q8IVU1
      Related
      ENSP00000332773.4, ENST00000327987.9
      Conserved Domains (6) summary
      cd00096
      Location:347 → 414
      Ig; Immunoglobulin domain
      smart00410
      Location:244 → 326
      IG_like; Immunoglobulin like
      cd00063
      Location:424 → 517
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:331 → 417
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:522 → 603
      fn3; Fibronectin type III domain
      cl11960
      Location:44 → 135
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      65327127..65378002 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522241.3 → XP_011520543.3  immunoglobulin superfamily DCC subclass member 3 isoform X1

    2. XM_011522244.2 → XP_011520546.1  immunoglobulin superfamily DCC subclass member 3 isoform X3

      UniProtKB/TrEMBL
      B3KTG6
      Conserved Domains (6) summary
      cd00096
      Location:210 → 277
      Ig; Immunoglobulin domain
      smart00410
      Location:107 → 189
      IG_like; Immunoglobulin like
      cd00063
      Location:287 → 380
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:194 → 280
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:385 → 466
      fn3; Fibronectin type III domain
      cl11960
      Location:6 → 90
      Ig; Immunoglobulin domain

    3. XM_011522243.1 → XP_011520545.1  immunoglobulin superfamily DCC subclass member 3 isoform X2

      UniProtKB/TrEMBL
      B3KTG6
      Conserved Domains (6) summary
      cd00096
      Location:224 → 291
      Ig; Immunoglobulin domain
      smart00410
      Location:121 → 203
      IG_like; Immunoglobulin like
      cd00063
      Location:301 → 394
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:208 → 294
      I-set; Immunoglobulin I-set domain
      pfam00041
      Location:399 → 480
      fn3; Fibronectin type III domain
      cl11960
      Location:20 → 104
      Ig; Immunoglobulin domain

    4. XM_047433374.1 → XP_047289330.1  immunoglobulin superfamily DCC subclass member 3 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      63136500..63187366 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379257.1 → XP_054235232.1  immunoglobulin superfamily DCC subclass member 3 isoform X1

    2. XM_054379259.1 → XP_054235234.1  immunoglobulin superfamily DCC subclass member 3 isoform X3

      UniProtKB/TrEMBL
      B3KTG6

    3. XM_054379258.1 → XP_054235233.1  immunoglobulin superfamily DCC subclass member 3 isoform X2

      UniProtKB/TrEMBL
      B3KTG6

    4. XM_054379260.1 → XP_054235235.1  immunoglobulin superfamily DCC subclass member 3 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IVU1.2 GenPept UniProtKB/Swiss-Prot:Q8IVU1

    Gene LinkOut

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