Aliases for NEGR1 Gene

Aliases for NEGR1 Gene

  • Neuronal Growth Regulator 1 2 3 4 5
  • IgLON Family Member 4 2 3 4
  • IGLON4 2 3 4
  • A Kindred Of IgLON 2 3
  • Neurotractin 2 3
  • KILON 2 3
  • Ntra 2 3
  • DMML2433 3
  • MGC46680 2
  • NEGR1 5

External Ids for NEGR1 Gene

Previous GeneCards Identifiers for NEGR1 Gene

  • GC01M071253
  • GC01M071238
  • GC01M071580
  • GC01M071641
  • GC01M071868
  • GC01M069978

Summaries for NEGR1 Gene

GeneCards Summary for NEGR1 Gene

NEGR1 (Neuronal Growth Regulator 1) is a Protein Coding gene. Diseases associated with NEGR1 include Niemann-Pick Disease and Leptin Deficiency Or Dysfunction. Among its related pathways are Post-translational modification- synthesis of GPI-anchored proteins and Metabolism of proteins. An important paralog of this gene is LSAMP.

UniProtKB/Swiss-Prot Summary for NEGR1 Gene

  • May be involved in cell-adhesion. May function as a trans-neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity).

Gene Wiki entry for NEGR1 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NEGR1 Gene

Genomics for NEGR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NEGR1 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
GH01J072281 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 262.7 -0.8 -780 7.4 JUND ZIC2 BCL11A CEBPB ZNF341 CTCF SIN3A EP300 PRDM1 ZNF610 NEGR1 ENSG00000286863 HSALNG0004422-001 LOC105378797 RPL31P12 HSALNG0004423
GH01J072100 Promoter 0.4 EPDnew 250.1 +181.6 181574 0.1 SPI1 NEGR1 HSALNG0004420 HSALNG0004419
GH01J072229 Enhancer 0.3 Ensembl 5.1 +52.0 51972 1.5 ZNF652 RPL31P12 NEGR1 RF00994-022 GDI2P2
GH01J072605 Enhancer 0.2 Ensembl 3.9 -324.5 -324462 2.4 NEGR1 HSALNG0004435 lnc-FPGT-12 lnc-NEGR1-4 ENSG00000225087 ENSG00000286863 LOC105378797
GH01J072220 Enhancer 0.2 FANTOM5 1.6 +61.7 61668 0.1 NEGR1 RF00994-022 GDI2P2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEGR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NEGR1

Top Transcription factor binding sites by QIAGEN in the NEGR1 gene promoter:
  • AML1a
  • FOXI1
  • GATA-1
  • GATA-2
  • GATA-3
  • HFH-3
  • Hlf
  • HTF
  • MZF-1
  • Zic1

Genomic Locations for NEGR1 Gene

Latest Assembly
886,597 bases
Minus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
886,597 bases
Minus strand

(GRCh37/hg19 by Ensembl)
886,795 bases
Minus strand

Genomic View for NEGR1 Gene

Genes around NEGR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEGR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEGR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEGR1 Gene

Proteins for NEGR1 Gene

  • Protein details for NEGR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuronal growth regulator 1
    Protein Accession:
    Secondary Accessions:
    • Q5VT21
    • Q6UY06
    • Q8N440
    • Q8NAQ3

    Protein attributes for NEGR1 Gene

    354 amino acids
    Molecular mass:
    38719 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAQ88499.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NEGR1 Gene

    Alternative splice isoforms for NEGR1 Gene


neXtProt entry for NEGR1 Gene

Post-translational modifications for NEGR1 Gene

  • Glycosylation at Asn155, Asn73, Asn275, Asn286, Asn294, and Asn307
  • Modification sites at PhosphoSitePlus

Other Protein References for NEGR1 Gene

Antibodies for research

  • Abcam antibodies for NEGR1
  • Santa Cruz Biotechnology (SCBT) Antibodies for NEGR1

No data available for DME Specific Peptides for NEGR1 Gene

Domains & Families for NEGR1 Gene

Gene Families for NEGR1 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for NEGR1 Gene

  • Immunoglobulin C-2 type
  • Immunoglobulin subtype
  • Immunoglobulin I-set

Suggested Antigen Peptide Sequences for NEGR1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59691, highly similar to Neuronal growth regulator 1 (B4DI94_HUMAN)
  • IgLON family member 4 (NEGR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the immunoglobulin superfamily. IgLON family.
  • Belongs to the immunoglobulin superfamily. IgLON family.
genes like me logo Genes that share domains with NEGR1: view

Function for NEGR1 Gene

Molecular function for NEGR1 Gene

UniProtKB/Swiss-Prot Function:
May be involved in cell-adhesion. May function as a trans-neural growth-promoting factor in regenerative axon sprouting in the mammalian brain (By similarity).

Phenotypes From GWAS Catalog for NEGR1 Gene

Gene Ontology (GO) - Molecular Function for NEGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21982860
genes like me logo Genes that share ontologies with NEGR1: view
genes like me logo Genes that share phenotypes with NEGR1: view

Animal Models for NEGR1 Gene

MGI Knock Outs for NEGR1:
  • Negr1 Negr1<tm1b(KOMP)Wtsi>
  • Negr1 Negr1<tm1Mkes>

miRNA for NEGR1 Gene

miRTarBase miRNAs that target NEGR1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEGR1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NEGR1 Gene

Localization for NEGR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NEGR1 Gene

Cell membrane. Lipid-anchor, GPI-anchor.

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 NEGR1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Cytosol (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0031225 anchored component of membrane IEA --
genes like me logo Genes that share ontologies with NEGR1: view

Pathways & Interactions for NEGR1 Gene

genes like me logo Genes that share pathways with NEGR1: view

Pathways by source for NEGR1 Gene

Gene Ontology (GO) - Biological Process for NEGR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007626 locomotory behavior IEA --
GO:0007631 feeding behavior IEA --
GO:0010976 positive regulation of neuron projection development IEA --
GO:0098609 cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with NEGR1: view

No data available for SIGNOR curated interactions for NEGR1 Gene

Drugs & Compounds for NEGR1 Gene

No Compound Related Data Available

Transcripts for NEGR1 Gene

mRNA/cDNA for NEGR1 Gene

6 NCBI additional mRNA sequence :
5 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 NEGR1

Alternative Splicing Database (ASD) splice patterns (SP) for NEGR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
SP2: - -
SP3: -

Relevant External Links for NEGR1 Gene

GeneLoc Exon Structure for

Expression for NEGR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NEGR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NEGR1 Gene

This gene is overexpressed in Cerebrospinal fluid (13.1) and Frontal cortex (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NEGR1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NEGR1

SOURCE GeneReport for Unigene cluster for NEGR1 Gene:


Evidence on tissue expression from TISSUES for NEGR1 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with NEGR1: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEGR1 Gene

Orthologs for NEGR1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NEGR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NEGR1 29 30
  • 99.72 (n)
(Bos Taurus)
Mammalia NEGR1 29
  • 95.86 (n)
(Canis familiaris)
Mammalia NEGR1 29 30
  • 95.39 (n)
(Rattus norvegicus)
Mammalia Negr1 29
  • 89.37 (n)
(Mus musculus)
Mammalia Negr1 29 16 30
  • 88.22 (n)
(Monodelphis domestica)
Mammalia NEGR1 30
  • 88 (a)
(Ornithorhynchus anatinus)
Mammalia NEGR1 30
  • 83 (a)
(Gallus gallus)
Aves NEGR1 29 30
  • 79.92 (n)
(Anolis carolinensis)
Reptilia NEGR1 30
  • 79 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia negr1 29
  • 79.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.2002 29
(Danio rerio)
Actinopterygii negr1 29 30
  • 66.28 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Lac 29 30
  • 47.7 (n)
CG11320 30
  • 26 (a)
Ama 30
  • 25 (a)
CG14010 30
  • 22 (a)
CG14521 30
  • 22 (a)
CG40378 30
  • 20 (a)
CG42368 30
  • 19 (a)
CG34391 30
  • 18 (a)
CG7166 30
  • 18 (a)
CG31708 30
  • 17 (a)
CG34353 30
  • 16 (a)
CG31646 30
  • 16 (a)
CG42343 30
  • 16 (a)
wrapper 30
  • 16 (a)
CG32791 30
  • 15 (a)
klg 30
  • 15 (a)
CG31814 30
  • 13 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007500 29
  • 43.73 (n)
(Caenorhabditis elegans)
Secernentea rig-5 30
  • 17 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 27 (a)
Species where no ortholog for NEGR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for NEGR1 Gene

Gene Tree for NEGR1 (if available)
Gene Tree for NEGR1 (if available)
Evolutionary constrained regions (ECRs) for NEGR1: view image
Alliance of Genome Resources:
Additional Orthologs for NEGR1

Paralogs for NEGR1 Gene

Paralogs for NEGR1 Gene

(7) SIMAP similar genes for NEGR1 Gene using alignment to 4 proteins:

  • B4DI94_HUMAN
  • L8E9Q9_HUMAN
  • Q8N440_HUMAN
genes like me logo Genes that share paralogs with NEGR1: view

Variants for NEGR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NEGR1 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs138963902 Likely Benign: not provided 71,592,927(-) C/T
NM_173808.3(NEGR1):c.830G>A (p.Ser277Asn)
rs142674139 Benign: not provided 72,282,401(-) G/C
NM_173808.3(NEGR1):c.94C>G (p.Leu32Val)
rs144477627 Benign: not provided 71,407,536(-) G/A
NM_173808.3(NEGR1):c.975C>T (p.Ser325=)
rs1570224157 Likely Benign: not provided 72,282,435(-) C/A
NM_173808.3(NEGR1):c.60G>T (p.Val20=)
rs61729931 Benign: not provided 71,611,112(-) G/T
NM_173808.3(NEGR1):c.702C>A (p.Thr234=)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NEGR1 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 NEGR1 Gene

Variant ID Type Subtype PubMed ID
dgv11n111 CNV deletion 26073780
dgv178n100 CNV loss 25217958
dgv179n100 CNV loss 25217958
dgv180n100 CNV loss 25217958
dgv181n100 CNV gain 25217958
dgv182n100 CNV gain 25217958
dgv183n100 CNV gain 25217958
dgv19n27 CNV gain 19166990
dgv25e214 CNV loss 21293372
dgv309n54 CNV loss 21841781
dgv310n54 CNV loss 21841781
dgv311n54 CNV loss 21841781
dgv312n54 CNV loss 21841781
dgv45e212 CNV loss 25503493
dgv50n67 CNV gain 20364138
esv1009711 CNV insertion 20482838
esv1246885 CNV insertion 17803354
esv1377110 CNV insertion 17803354
esv2459000 CNV insertion 19546169
esv2528141 CNV insertion 19546169
esv2595732 CNV insertion 19546169
esv2609491 CNV deletion 19546169
esv2660119 CNV deletion 23128226
esv2662443 CNV deletion 23128226
esv2663666 CNV deletion 23128226
esv2671566 CNV deletion 23128226
esv2673031 CNV deletion 23128226
esv27109 CNV gain 19812545
esv2749719 CNV deletion 23290073
esv2749730 CNV deletion 23290073
esv2749741 CNV deletion 23290073
esv2749752 CNV deletion 23290073
esv2749763 CNV deletion 23290073
esv2749774 CNV deletion 23290073
esv275261 CNV loss 21479260
esv2758939 CNV gain+loss 17122850
esv2762150 CNV loss 21179565
esv2763317 CNV loss 21179565
esv2763318 CNV loss 21179565
esv2764234 CNV gain+loss 21179565
esv3304727 CNV mobile element insertion 20981092
esv3309645 CNV mobile element insertion 20981092
esv33679 CNV gain 17666407
esv3443181 CNV insertion 20981092
esv3563859 CNV deletion 23714750
esv3586384 CNV loss 21293372
esv3586386 CNV gain 21293372
esv3586390 CNV loss 21293372
esv3586393 CNV loss 21293372
esv3586394 CNV loss 21293372
esv3586396 CNV loss 21293372
esv3586397 CNV loss 21293372
esv3586399 CNV loss 21293372
esv3586400 CNV gain 21293372
esv3586401 CNV loss 21293372
esv3586402 CNV loss 21293372
esv3586403 CNV loss 21293372
esv3586407 CNV loss 21293372
esv3893668 CNV loss 25118596
esv3893679 CNV loss 25118596
esv4720 CNV loss 18987735
esv8759 CNV loss 19470904
esv992761 CNV loss 20482838
nsv1001732 CNV loss 25217958
nsv1003527 CNV loss 25217958
nsv1008210 CNV loss 25217958
nsv1013256 CNV loss 25217958
nsv1120192 CNV tandem duplication 24896259
nsv1122361 CNV deletion 24896259
nsv1133866 CNV deletion 24896259
nsv1144384 CNV deletion 24896259
nsv1146835 CNV insertion 26484159
nsv1354 CNV deletion 18451855
nsv1365 CNV deletion 18451855
nsv1376 CNV deletion 18451855
nsv254 CNV deletion 15895083
nsv428454 CNV loss 18775914
nsv461895 CNV loss 19166990
nsv461951 CNV loss 19166990
nsv470715 CNV gain 18288195
nsv474891 CNV novel sequence insertion 20440878
nsv508016 OTHER sequence alteration 20534489
nsv508017 OTHER sequence alteration 20534489
nsv512743 CNV insertion 21212237
nsv516389 CNV loss 19592680
nsv526840 CNV gain 19592680
nsv528210 CNV loss 19592680
nsv546474 CNV gain 21841781
nsv546475 CNV gain 21841781
nsv546478 CNV loss 21841781
nsv546479 CNV loss 21841781
nsv818223 CNV gain 17921354
nsv821519 CNV deletion 20802225
nsv830159 CNV gain 17160897
nsv830170 CNV gain 17160897
nsv830181 CNV gain 17160897
nsv830192 CNV gain 17160897
nsv945996 CNV duplication 23825009
nsv958058 CNV deletion 24416366
nsv997768 CNV loss 25217958

Variation tolerance for NEGR1 Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.36; 41.97% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEGR1 Gene

Human Gene Mutation Database (HGMD)
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 NEGR1 Gene

Disorders for NEGR1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NEGR1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
niemann-pick disease
  • lipoid histiocytosis
leptin deficiency or dysfunction
  • lepd
- elite association - COSMIC cancer census association via MalaCards
Search NEGR1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NEGR1

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NEGR1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEGR1 Gene

Publications for NEGR1 Gene

  1. Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population. (PMID: 19851340) Hotta K … Nakamura Y (Journal of human genetics 2009) 3 22 40
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  3. Implication of genetic variants near NEGR1, SEC16B, TMEM18, ETV5/DGKG, GNPDA2, LIN7C/BDNF, MTCH2, BCDIN3D/FAIM2, SH2B1, FTO, MC4R, and KCTD15 with obesity and type 2 diabetes in 7705 Chinese. (PMID: 20215397) Ng MC … Ma RC (The Journal of clinical endocrinology and metabolism 2010) 3 40
  4. Genes and lifestyle factors in obesity: results from 12,462 subjects from MONICA/KORA. (PMID: 20386550) Holzapfel C … Heid IM (International journal of obesity (2005) 2010) 3 40
  5. Genetic markers of adult obesity risk are associated with greater early infancy weight gain and growth. (PMID: 20520848) Elks CE … Ong KK (PLoS medicine 2010) 3 40

Products for NEGR1 Gene

Sources for NEGR1 Gene