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

Gene ID: 114794, updated on 22-Aug-2020

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 Ensembl:ENSG00000243902
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
Expression
Biased expression in brain (RPKM 10.0) and testis (RPKM 1.9) See more
Orthologs

Genomic context

See ELFN2 in Genome Data Viewer
Location:
22q13.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (37340644..37427479, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37764000..37823505, complement)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985576 Neighboring gene uncharacterized LOC105373024 Neighboring gene Sharpr-MPRA regulatory region 14238 Neighboring gene cytohesin 4 Neighboring gene uncharacterized LOC100506271 Neighboring gene MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Neighboring gene caspase recruitment domain family member 10

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

Phenotypes

Associated conditions

Description Tests
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
GeneReviews: Not available

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

Homology

Clone Names

  • FLJ30913, KIAA1904

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein phosphatase inhibitor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
negative regulation of phosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of phosphoprotein phosphatase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular matrix IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space HDA PubMed 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
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)

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
    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
    Related
    ENST00000452946.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

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