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LRCH2 leucine rich repeats and calponin homology domain containing 2 [ Homo sapiens (human) ]

Gene ID: 57631, updated on 8-Dec-2019

Summary

Official Symbol
LRCH2provided by HGNC
Official Full Name
leucine rich repeats and calponin homology domain containing 2provided by HGNC
Primary source
HGNC:HGNC:29292
See related
Ensembl:ENSG00000130224
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
dA204F4.4
Summary
This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]
Expression
Broad expression in prostate (RPKM 3.7), brain (RPKM 2.9) and 20 other tissues See more
Orthologs

Genomic context

See LRCH2 in Genome Data Viewer
Location:
Xq23
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (115110611..115234096, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (114345179..114468635, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene zinc finger protein 670 pseudogene Neighboring gene Yes associated protein 1 pseudogene 2 Neighboring gene small nucleolar RNA, H/ACA box 35B Neighboring gene TMSB4X pseudogene 7 Neighboring gene RBMX like 3 Neighboring gene ribosomal protein L36 pseudogene 18 Neighboring gene leucine zipper protein 4 Neighboring gene uncharacterized LOC107985681

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1495, MGC150671

General protein information

Preferred Names
leucine-rich repeat and calponin homology domain-containing protein 2
Names
leucine-rich repeats and calponin homology (CH) domain containing 2

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.

Genomic

  1. NG_021299.2 RefSeqGene

    Range
    4977..128457
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001243963.1NP_001230892.1  leucine-rich repeat and calponin homology domain-containing protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (2) that is shorter than isoform 1.
    Source sequence(s)
    BC125224, BX647193
    Consensus CDS
    CCDS59175.1
    UniProtKB/Swiss-Prot
    Q5VUJ6
    Related
    ENSP00000439366.1, ENST00000538422.2
    Conserved Domains (5) summary
    cd00116
    Location:136237
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:92112
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00307
    Location:627734
    CH; Calponin homology (CH) domain
    pfam12799
    Location:136173
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:181237
    LRR_8; Leucine rich repeat
  2. NM_020871.4NP_065922.3  leucine-rich repeat and calponin homology domain-containing protein 2 isoform 1

    See identical proteins and their annotated locations for NP_065922.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AB040928, AC239923, BG541540, BX647193
    Consensus CDS
    CCDS48155.1
    UniProtKB/Swiss-Prot
    Q5VUJ6
    Related
    ENSP00000325091.8, ENST00000317135.13
    Conserved Domains (5) summary
    cd00116
    Location:136237
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:92112
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00307
    Location:644751
    CH; Calponin homology (CH) domain
    pfam12799
    Location:136173
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:181237
    LRR_8; Leucine rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    115110611..115234096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006724724.3XP_006724787.2  leucine-rich repeat and calponin homology domain-containing protein 2 isoform X1

    Conserved Domains (5) summary
    cd00116
    Location:136237
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:92112
    LRR_RI; leucine-rich repeat [structural motif]
    pfam00307
    Location:637744
    CH; Calponin homology (CH) domain
    pfam12799
    Location:136173
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:181237
    LRR_8; Leucine rich repeat
  2. XM_017029696.2XP_016885185.1  leucine-rich repeat and calponin homology domain-containing protein 2 isoform X2

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