Aliases for LRRC37A2 Gene

Aliases for LRRC37A2 Gene

  • Leucine Rich Repeat Containing 37 Member A2 2 3 5
  • Leucine-Rich Repeat-Containing Protein 37A2 3 4
  • C114 SLIT-Like Testicular Protein 2 3
  • LRRC37A2 5
  • FLJ45049 2
  • LRRC37 3

External Ids for LRRC37A2 Gene

Previous GeneCards Identifiers for LRRC37A2 Gene

  • GC17P041947
  • GC17P044591

Summaries for LRRC37A2 Gene

GeneCards Summary for LRRC37A2 Gene

LRRC37A2 (Leucine Rich Repeat Containing 37 Member A2) is a Protein Coding gene. Diseases associated with LRRC37A2 include Epilepsy, Progressive Myoclonic, 6 and Tetraamelia Syndrome. An important paralog of this gene is LRRC37A.

Additional gene information for LRRC37A2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LRRC37A2 Gene

Genomics for LRRC37A2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LRRC37A2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J046512 Promoter 0.3 EPDnew 250.7 +1.2 1180 0.1 LRRC37A2 piR-31629-003 piR-38384-003 piR-32569-003 piR-43043-004 piR-51514-002 piR-37520-003 piR-48856-003 piR-40861-003 piR-49436-003
GH17J046487 Promoter 0.3 EPDnew 250.4 -24.5 -24460 0.1 piR-48325-062 LRRC37A2 L13714-207 NSFP1 ARL17B
GH17J046322 Promoter 0.3 EPDnew 250.1 -188.5 -188501 0.1 lnc-KANSL1-2 LRRC37A2 piR-33383-002 LOC107987254 LRRC37A ARL17B
GH17J046189 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.9 -317.9 -317938 7.6 BCLAF1 SP1 ZNF207 ZNF654 NCOR1 MYC IKZF1 ZNF600 SIX5 ZNF592 KANSL1 KANSL1-AS1 FJ009034 LINC02210 LRRC37A4P ARL17B ARL17A ENSG00000262372 RPS7P11 CDC27
GH17J047274 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.3 +766.5 766510 7.4 BCLAF1 SP1 NCOR1 MYC ZNF600 IKZF1 JUND ZNF580 ZNF592 ZNF10 ITGB3 EFCAB13 LRRC37A GOSR2 LRRC37A2 ARL17B CDC27 ARL17A LRRC46 TBKBP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LRRC37A2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LRRC37A2

Top Transcription factor binding sites by QIAGEN in the LRRC37A2 gene promoter:
  • Pax-2
  • Pax-2a
  • Pax-2b
  • RSRFC4
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • SRF
  • SRF (504 AA)
  • TBP

Genomic Locations for LRRC37A2 Gene

Latest Assembly
537,618 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
42,939 bases
Plus strand

(GRCh37/hg19 by Ensembl)
44,140 bases
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):195,713-238,676 (-)
  • chr17(ALT_REF_LOCI_2):1,032,391-1,075,353 (+)

Genomic View for LRRC37A2 Gene

Genes around LRRC37A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LRRC37A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LRRC37A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LRRC37A2 Gene

Proteins for LRRC37A2 Gene

  • Protein details for LRRC37A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine-rich repeat-containing protein 37A2
    Protein Accession:
    Secondary Accessions:
    • B7ZMC3

    Protein attributes for LRRC37A2 Gene

    1700 amino acids
    Molecular mass:
    188393 Da
    Quaternary structure:
    No Data Available

neXtProt entry for LRRC37A2 Gene

Post-translational modifications for LRRC37A2 Gene

  • Glycosylation at Asn296 and Asn1079
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for LRRC37A2 Gene

Domains & Families for LRRC37A2 Gene

Gene Families for LRRC37A2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for LRRC37A2 Gene

Suggested Antigen Peptide Sequences for LRRC37A2 Gene

GenScript: Design optimal peptide antigens:
  • LRRC37A2 protein (B7ZMC3_HUMAN)
  • LRRC37A2 protein (B7ZMC4_HUMAN)
  • Leucine-rich repeat-containing protein 37A2 (L37A2_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the LRRC37A family.
  • Belongs to the LRRC37A family.
genes like me logo Genes that share domains with LRRC37A2: view

Function for LRRC37A2 Gene

Phenotypes From GWAS Catalog for LRRC37A2 Gene

Gene Ontology (GO) - Molecular Function for LRRC37A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with LRRC37A2: view
genes like me logo Genes that share phenotypes with LRRC37A2: view

miRNA for LRRC37A2 Gene

miRTarBase miRNAs that target LRRC37A2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC37A2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LRRC37A2 Gene

Localization for LRRC37A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LRRC37A2 Gene

Membrane. Single-pass type I membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LRRC37A2 gene
Compartment Confidence
plasma membrane 2
extracellular 1
peroxisome 1
nucleus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LRRC37A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with LRRC37A2: view

Pathways & Interactions for LRRC37A2 Gene

PathCards logo

SuperPathways for LRRC37A2 Gene

No Data Available

Interacting Proteins for LRRC37A2 Gene

Gene Ontology (GO) - Biological Process for LRRC37A2 Gene


No data available for Pathways by source and SIGNOR curated interactions for LRRC37A2 Gene

Drugs & Compounds for LRRC37A2 Gene

No Compound Related Data Available

Transcripts for LRRC37A2 Gene

mRNA/cDNA for LRRC37A2 Gene

43 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LRRC37A2

Alternative Splicing Database (ASD) splice patterns (SP) for LRRC37A2 Gene

No ASD Table

Relevant External Links for LRRC37A2 Gene

GeneLoc Exon Structure for

Expression for LRRC37A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LRRC37A2 Gene

mRNA differential expression in normal tissues according to GTEx for LRRC37A2 Gene

This gene is overexpressed in Testis (x4.3).

Protein differential expression in normal tissues from HIPED for LRRC37A2 Gene

This gene is overexpressed in Testis (59.2) and Heart (9.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LRRC37A2 Gene

Protein tissue co-expression partners for LRRC37A2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LRRC37A2

SOURCE GeneReport for Unigene cluster for LRRC37A2 Gene:

genes like me logo Genes that share expression patterns with LRRC37A2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for LRRC37A2 Gene

Orthologs for LRRC37A2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for LRRC37A2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LRRC37A3 29
  • 95.71 (n)
-- 30
  • 92 (a)
(Canis familiaris)
Mammalia -- 30
  • 60 (a)
-- 30
  • 28 (a)
-- 30
  • 10 (a)
(Bos Taurus)
Mammalia -- 30
  • 48 (a)
(Mus musculus)
Mammalia Gm884 30
  • 32 (a)
Lrrc37a 30
  • 16 (a)
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 23 (a)
(Monodelphis domestica)
Mammalia -- 30
  • 22 (a)
(Gallus gallus)
Aves -- 30
  • 44 (a)
(Anolis carolinensis)
Reptilia -- 30
  • 27 (a)
Species where no ortholog for LRRC37A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for LRRC37A2 Gene

Gene Tree for LRRC37A2 (if available)
Gene Tree for LRRC37A2 (if available)
Alliance of Genome Resources:
Additional Orthologs for LRRC37A2

Paralogs for LRRC37A2 Gene

Paralogs for LRRC37A2 Gene

(5) SIMAP similar genes for LRRC37A2 Gene using alignment to 3 proteins:

  • L37A2_HUMAN
genes like me logo Genes that share paralogs with LRRC37A2: view

Variants for LRRC37A2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LRRC37A2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1000197 Uncertain Significance: Progressive myoclonic epilepsy 46,932,114(+) T/C
NM_004287.5(GOSR2):c.251T>C (p.Leu84Pro)
1002913 Uncertain Significance: Progressive myoclonic epilepsy 46,931,126(+) T/C
NM_004287.5(GOSR2):c.122T>C (p.Ile41Thr)
1009880 Uncertain Significance: Progressive myoclonic epilepsy 46,932,163(+) G/C
NM_004287.5(GOSR2):c.300G>C (p.Gln100His)
1011774 Uncertain Significance: Progressive myoclonic epilepsy 46,935,120(+) A/T
NM_004287.5(GOSR2):c.428A>T (p.Asp143Val)
1015077 Uncertain Significance: Progressive myoclonic epilepsy 46,935,131(+) A/G
NM_004287.5(GOSR2):c.439A>G (p.Ile147Val)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LRRC37A2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LRRC37A2 Gene

Variant ID Type Subtype PubMed ID
dgv127e55 CNV gain 17911159
dgv14n31 CNV gain 19718026
dgv29e213 CNV loss 24956385
dgv30e213 CNV gain 24956385
dgv3188n100 CNV gain 25217958
dgv3190n100 CNV gain 25217958
dgv3196n100 CNV gain+loss 25217958
dgv3198n100 CNV loss 25217958
dgv3233n100 CNV gain 25217958
dgv3240n100 CNV gain 25217958
dgv3241n100 CNV loss 25217958
dgv3248n100 CNV loss 25217958
dgv3249n100 CNV gain 25217958
dgv3250n100 CNV gain+loss 25217958
dgv3251n100 CNV loss 25217958
dgv3253n100 CNV loss 25217958
dgv3254n100 CNV gain+loss 25217958
dgv3255n100 CNV gain 25217958
dgv3256n100 CNV loss 25217958
dgv3257n100 CNV loss 25217958
dgv3258n100 CNV gain+loss 25217958
dgv3259n100 CNV loss 25217958
dgv5628n54 CNV loss 21841781
dgv5644n54 CNV gain 21841781
dgv5647n54 CNV loss 21841781
dgv5648n54 CNV gain+loss 21841781
dgv5650n54 CNV gain 21841781
dgv5651n54 CNV loss 21841781
dgv5656n54 CNV loss 21841781
dgv5657n54 CNV loss 21841781
dgv939e212 CNV gain 25503493
dgv940e212 CNV loss 25503493
esv1003686 CNV gain 20482838
esv21783 CNV gain+loss 19812545
esv2656635 CNV deletion 23128226
esv2758692 CNV gain+loss 17122850
esv2760451 CNV gain+loss 21179565
esv2762433 CNV gain+loss 21179565
esv33048 CNV gain+loss 17666407
esv3359586 CNV duplication 20981092
esv3411572 CNV duplication 20981092
esv3893020 CNV gain 25118596
esv3893021 CNV gain 25118596
esv3893023 CNV gain+loss 25118596
nsv1063380 CNV gain 25217958
nsv1070410 CNV deletion 25765185
nsv1126463 CNV deletion 24896259
nsv1133408 CNV deletion 24896259
nsv1146669 OTHER inversion 26484159
nsv1160494 CNV deletion 26073780
nsv163 CNV deletion 15895083
nsv2070 CNV deletion 18451855
nsv428343 CNV gain+loss 18775914
nsv433450 CNV gain 18776910
nsv433451 CNV gain 18776910
nsv442749 CNV gain+loss 18776908
nsv469644 CNV gain+loss 16826518
nsv471700 CNV gain+loss 15918152
nsv510715 CNV deletion 20534489
nsv516807 CNV gain+loss 19592680
nsv575266 CNV gain 21841781
nsv575369 CNV loss 21841781
nsv575387 CNV gain+loss 21841781
nsv575388 CNV gain 21841781
nsv820933 CNV deletion 20802225
nsv821687 CNV gain 15273396
nsv833463 CNV loss 17160897
nsv833464 CNV gain 17160897
nsv953915 CNV deletion 24416366
nsv953916 CNV duplication 24416366
nsv9564 CNV gain+loss 18304495
nsv960495 CNV duplication 23825009

Variation tolerance for LRRC37A2 Gene

Gene Damage Index Score: 4.46; 64.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LRRC37A2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LRRC37A2 Gene

Disorders for LRRC37A2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for LRRC37A2 Gene - From: CVR, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LRRC37A2

genes like me logo Genes that share disorders with LRRC37A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LRRC37A2 Gene

Publications for LRRC37A2 Gene

  1. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
  2. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  3. Functional assays for the assessment of the pathogenicity of variants of GOSR2, an ER-to-Golgi SNARE involved in progressive myoclonus epilepsies. (PMID: 28982678) Völker JM … Schwake M (Disease models & mechanisms 2017) 72
  4. Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. (PMID: 24458321) van Egmond ME … de Koning TJ (Movement disorders : official journal of the Movement Disorder Society 2014) 72
  5. Clinical exome sequencing for genetic identification of rare Mendelian disorders. (PMID: 25326637) Lee H … Nelson SF (JAMA 2014) 72

Products for LRRC37A2 Gene

Sources for LRRC37A2 Gene