Nrcam Gene Detail

Summary

• Symbol
  Nrcam
• Name
  neuronal cell adhesion molecule
• Synonyms
  Bravo, C030017F07Rik, C130076O07Rik, mKIAA0343

• Feature Type
  protein coding gene
• IDs
  MGI:104750
  NCBI Gene: 319504
• Alliance
  gene page
• Transcription Start Sites
  19 TSS
• Candidate for QTL
  1 QTL

Location &
Maps

• Sequence Map
  Chr12:44375668-44648747 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 12, 20.71 cM
• Mapping Data
  5 experiments

Strain
Comparison

• SNPs within 2kb
  8682 from dbSNP Build 142
• Strain Annotations
  18
• RFLP
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104750	protein coding gene	Chr12:44375568-44651977 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019712	protein coding gene	Chr12:42897852-43194603 (+)
A/J	MGP_AJ_G0019676	protein coding gene	Chr12:41364818-41641991 (+)
AKR/J	MGP_AKRJ_G0019647	protein coding gene	Chr12:42679935-42957377 (+)
BALB/cJ	MGP_BALBcJ_G0019654	protein coding gene	Chr12:41669875-41934175 (+)
C3H/HeJ	MGP_C3HHeJ_G0019458	protein coding gene	Chr12:42645353-42925465 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020101	protein coding gene	Chr12:44158950-44447155 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017726	protein coding gene	Chr12:40376406-40639562 (+)
CAST/EiJ	MGP_CASTEiJ_G0019011	protein coding gene	Chr12:37822159-38103938 (+)
CBA/J	MGP_CBAJ_G0019430	protein coding gene	Chr12:45630493-45923661 (+)
DBA/2J	MGP_DBA2J_G0019543	protein coding gene	Chr12:41250172-41519023 (+)
FVB/NJ	MGP_FVBNJ_G0019532	protein coding gene	Chr12:40777057-41040433 (+)
LP/J	MGP_LPJ_G0019613	protein coding gene	Chr12:42866511-43147053 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019568	protein coding gene	Chr12:46328925-46630885 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020141	protein coding gene	Chr12:42269163-42538380 (+)
PWK/PhJ	MGP_PWKPhJ_G0018778	protein coding gene	Chr12:35920666-36188161 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018568	protein coding gene	Chr12:36868027-37146688 (+)
WSB/EiJ	MGP_WSBEiJ_G0019061	protein coding gene	Chr12:42580504-42858341 (+)

Homology

• Human Ortholog
  NRCAM, neuronal cell adhesion molecule

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  NRCAM, neuronal cell adhesion molecule
  
• Synonyms
  NEDNMS
• Links
  HGNC:7994

  NCBI Gene ID: 4897

  neXtProt AC: NX_Q92823

  UniProt: Q92823

  
  
• Chr Location
  7q31.1; chr7:108147623-108456720 (-)  GRCh38

---

• MGI Vertebrate Homology
  Nrcam stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: NRCAM
• Gene Tree
  Nrcam
  

Human Diseases

• Diseases
  1 with Nrcam mouse models

Human Disease

Mouse Models

autism spectrum disorder

IDs

autism spectrum disorder      

DOID:0060041
MESH:D000067877

View 1 model

Mouse Models

Human Disease Modeled: autism spectrum disorder

Allelic Composition	Genetic Background	Reference	Phenotypes
Nrcamtm1Gmt/Nrcamtm1Gmt	involves: 129S6/SvEvTac * Swiss Webster	J:153165	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  23 phenotypes from 5 alleles in 8 genetic backgrounds
  38 phenotypes from multigenic genotypes
  4 images
  38 phenotype references
  

• All Mutations and Alleles
  14
• Chemically induced (ENU)
  1
• Endonuclease-mediated
  2
• Gene trapped
  2
• Spontaneous
  1
• Targeted
  8
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  87 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Homozygotes for targeted null mutations exhibit disorganization of lens fibers, cellular disintegration, and accumulation of cellular debris resulting in cataracts. Mutants show mild reductions in cerebellar lobe size.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  42
• GO References
  14

Expression

• Assay Results
  964
• Tissues
  184
• cDNA Data
  98
• Literature Summary
  41

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  GEISHA NRCAM
  Xenbase nrcam
  ZFIN nrcamb

Sequences &
Gene Models

• All Sequences
  191
• RefSeq
  100
• UniProt
  12
• CCDS
  CCDS49056.1, CCDS49057.1

• Ensembl
  ENSMUSG00000020598 (Evidence)
• NCBI Gene
  319504

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000020598	Ensembl Gene Model | MGI Sequence Detail	273080	C57BL/6J
transcript	ENSMUST00000020939	Ensembl | MGI Sequence Detail	4469	Not Applicable
polypeptide	ENSMUSP00000020939	Ensembl | MGI Sequence Detail	1256	Not Applicable

Protein
Information

• UniProt
  12 Sequences
• Protein Ontology
  PR:000011420 neuronal cell adhesion molecule
  (term hierarchy)
• InterPro Domains
  IPR003961 Fibronectin type III
  IPR036116 Fibronectin type III superfamily
  IPR013098 Immunoglobulin I-set
  IPR007110 Immunoglobulin-like domain
  IPR036179 Immunoglobulin-like domain superfamily
  IPR013783 Immunoglobulin-like fold
  IPR003006 Immunoglobulin/major histocompatibility complex, conserved site
  IPR003599 Immunoglobulin subtype
  IPR003598 Immunoglobulin subtype 2
  IPR026966 Neurofascin/L1/NrCAM, C-terminal domain
• GlyGen
  Q810U4 18 sites, 42 N-linked glycans (16 sites), 1 O-linked glycan (1 site)

Molecular
Reagents

• All nucleic 109

  cDNA 98

  Primer pair 6

  Other 5

  
  

  Microarray probesets 3

Other
Accession IDs

MGD-MRK-28041, MGI:1924717, MGI:2442157

References

• Summaries
  All 109

  Developmental Gene Expression 41

  Diseases 1

  Gene Ontology 14

  Phenotypes 38
• Earliest
  J:22422 Moscoso LM, et al., Expression of four immunoglobulin superfamily adhesion molecules (L1, Nr-CAM/Bravo, neurofascin/ABGP, and N-CAM) in the developing mouse spinal cord. J Comp Neurol. 1995 Feb 13;352(3):321-34
• Latest
  J:347591 LeFever NM, et al., Following the p63/Keratin5 basal cells in the sensory and non-sensory epithelia of the vomeronasal organ. Genesis. 2024 Apr;62(2):e23596

TSS for Nrcam:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr113362	Chr12:44375324-44375331 (+)	-340 bp
Tssr113363	Chr12:44375343-44375356 (+)	-318 bp
Tssr113364	Chr12:44375632-44375646 (+)	-29 bp
Tssr113365	Chr12:44375665-44375737 (+)	33 bp
Tssr113366	Chr12:44375747-44375792 (+)	102 bp
Tssr113367	Chr12:44375975-44375992 (+)	316 bp
Tssr113368	Chr12:44447613-44447617 (+)	71,947 bp
Tssr3834	Chr12:44485795-44485824 (+)	110,142 bp
Tssr113369	Chr12:44485829-44485852 (+)	110,173 bp
Tssr113370	Chr12:44485861-44485872 (+)	110,199 bp
Tssr113371	Chr12:44572340-44572345 (+)	196,675 bp
Tssr113372	Chr12:44572389-44572405 (+)	196,729 bp
Tssr113373	Chr12:44572421-44572443 (+)	196,764 bp
Tssr3835	Chr12:44572455-44572458 (+)	196,789 bp
Tssr113374	Chr12:44572475-44572485 (+)	196,812 bp
Tssr113375	Chr12:44572494-44572513 (+)	196,836 bp
Tssr113376	Chr12:44572521-44572524 (+)	196,855 bp
Tssr113377	Chr12:44575691-44575716 (+)	200,036 bp
Tssr113378	Chr12:44593549-44593558 (+)	217,886 bp

Nrcam is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Fl1sa	Chr12, 13.69 cM		J:244215	Nonalcoholic fatty liver disease (NAFLD) is a multifactorial disease caused by interactions between environmental and genetic factors. It was previously determined that SMXA-5 mice develop severe fatty liver on a high fat diet, although parental SM/J and A/J mice were resistant to fatty liver. Quantitative trait analysis using (SM/J x SMxA-5)F2 intercrossed mice identified a significant QTL, Fl1sa (fatty liver 1 in SMXA), for liver weight, liver triglyceride and total lipid content on centromere-53.06 Mb of mouse Chromosome 12. The A/J allele at Fl1sa was associated with the fatty liver. [J:124974] In a subsequent study using the livers from A/J-Chr 12 consomic and A/J mice that were fed a high fat diet three candidate genes were identified, Iah1, Rrm2 and Prkd1 using DNA microarray analysis. [J: 240255] The goal of the current study was to narrow the previously identified Fl1sa region by genetic dissection using novel congenic mice to identify candidate genes within the narrowed Fl1sa region. Two strains of congenic mice, A.SM-(centromere - D12Mit85)/J (R2) and A.SM-(D12Mit85-D12Mit112)/J (R3), were constructed from parental A/J and A/JChr 12 . Microsatellite markers and SNPs were used for the genotyping of R2 and R3 genomic DNA. Physical positions were taken from GRCm38.P4. The lipid accumulation in the respective livers was analyzed. As the liver triglyceride content in R2 and R3 congenic mice was significantly lower than in A/J mice. Male A/J, A/J-Chr12, R2 and R3 mice were fed standard chow until 6 weeks of age and thereafter fed a high fat diet from 6 to 13 weeks of age. At 13 weeks of age all mice were sacrificed after a 4 hour fast. The liver and white adipose tissue (subcutaneous fat, epididymal fat, mesenteric fat and retroperitoneal fat) were harvested and weighed. Blood sample were collected to measure serum lipids. Serum triglyceride, cholesterol and hepatic triglyceride content were measured. Whole transcripts from epididymal fats were measured using a Mouse Genome ST 2.0 array. Liver triglyceride content was significantly lower in A/J-Chr 12, R2 and R3 mice compared with that of A/J mice. Liver triglyceride and liver total lipid in R2 and R3 mice showed intermediate values between those of A/J and A/J-Chr 12 mice. The results suggested that the genes responsible for fatty liver existed in the SM/J region in strain R2 (centromere-29.20 Mb) and in the SM/J region in strain R3 (29.20-46.75 Mb) of Chromosome 12, Fig 1. Subsequently, in both of the narrowed Fl1sa regions microarray analysis of liver and epididymal fat from A/J and A/J-Chr 12 mice was performed in an attempt to identify candidate genes. Significant differences in gene expression levels in epididymal fat analysis were confirmed in 6 candidate genes: Ntsr2, Zfp125, Gdap10, Nrcam, Stxbp6 and Nova1 between the two strains.

*cM position of peak correlated region/marker