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    ELFN2 extracellular leucine rich repeat and fibronectin type III domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 114794, updated on 11-Apr-2024

    Summary

    Official Symbol
    ELFN2provided by HGNC
    Official Full Name
    extracellular leucine rich repeat and fibronectin type III domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:29396
    See related
    Ensembl:ENSG00000166897 MIM:620223; AllianceGenome:HGNC:29396
    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
    LRRC62; PPP1R29
    Summary
    Predicted to enable protein phosphatase inhibitor activity. Predicted to be involved in negative regulation of catalytic activity. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 10.0) and testis (RPKM 1.9) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    22q13.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37340644..37427479, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37801164..37887955, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37736685..37823514, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985576 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37656641-37657180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18961 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18963 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18965 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13684 Neighboring gene Sharpr-MPRA regulatory region 14238 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18966 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18968 Neighboring gene cytohesin 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37705193-37705774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18970 Neighboring gene uncharacterized LOC105373024 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37707125-37708324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37713975-37714832 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:37723358-37724557 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37725005-37725650 Neighboring gene Sharpr-MPRA regulatory region 3535 Neighboring gene uncharacterized LOC100506271 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37751415-37751915 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37750914-37751414 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37764078-37765044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37774300-37774868 Neighboring gene uncharacterized LOC124905114 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37782078-37782616 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37798615-37799363 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37806589-37807090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37812286-37812830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37815805-37816474 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37816475-37817143 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37863012-37863625 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37865281-37865782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37880249-37880758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18974 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882293-37882802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37882803-37883314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37883315-37883824 Neighboring gene MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898069-37898668 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37898669-37899266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904132-37904960 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37904961-37905787 Neighboring gene caspase recruitment domain family member 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37907945-37908458

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of ELFN2 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ30913, KIAA1904

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein phosphatase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular matrix IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular space HDA PubMed 
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    protein phosphatase 1 regulatory subunit 29
    Names
    dJ63G5.3 (putative Leucine rich protein)
    leucine-rich repeat and fibronectin type-III domain-containing protein 6
    leucine-rich repeat-containing protein 62

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_052906.5NP_443138.2  protein phosphatase 1 regulatory subunit 29 precursor

      See identical proteins and their annotated locations for NP_443138.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer trancript and encodes the protein.
      Source sequence(s)
      AB067491, BC032082, DA398675, FP325335, Z94160
      Consensus CDS
      CCDS33642.1
      UniProtKB/Swiss-Prot
      Q5R3F8, Q96PY3
      Related
      ENSP00000385277.1, ENST00000402918.7
      Conserved Domains (4) summary
      TIGR00864
      Location:157227
      PCC; polycystin cation channel protein
      sd00031
      Location:6080
      LRR_1; leucine-rich repeat [structural motif]
      sd00033
      Location:200226
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:80139
      LRR_8; Leucine rich repeat

    RNA

    1. NR_110512.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons and contains two alternate 3' terminal exons, compared to variant 1. This variant is represented as non-coding because it lacks the entire coding region found in variant 1.
      Source sequence(s)
      DA365834, DA398675, FP325335, Z94160

    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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37340644..37427479 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37801164..37887955 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)