Gene Gene information from NCBI Gene database.
Entrez ID 4897
Gene name Neuronal cell adhesion molecule
Gene symbol NRCAM
Synonyms (NCBI Gene)
NEDNMS
Chromosome 7
Chromosome location 7q31.1
Summary Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved
miRNA miRNA information provided by mirtarbase database.
83
miRTarBase ID miRNA Experiments Reference
MIRT037753 hsa-miR-708-5p CLASH 23622248
MIRT450809 hsa-miR-4282 PAR-CLIP 22100165
MIRT450809 hsa-miR-4282 PAR-CLIP 22100165
MIRT1193797 hsa-miR-1179 CLIP-seq
MIRT1193798 hsa-miR-1279 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
CTNNB1 Unknown 17724465
LEF1 Activation 12183361
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEP 11866539
GO:0001764 Process Neuron migration NAS 11483367
GO:0005515 Function Protein binding IPI 23897819
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601581 7994 ENSG00000091129
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92823
Protein name Neuronal cell adhesion molecule (Nr-CAM) (Neuronal surface protein Bravo) (hBravo) (NgCAM-related cell adhesion molecule) (Ng-CAM-related)
Protein function Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts bet
PDB 1UEN , 1UEY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 45 127 Domain
PF07679 I-set 274 357 Immunoglobulin I-set domain Domain
PF13927 Ig_3 361 436 Domain
PF07679 I-set 454 542 Immunoglobulin I-set domain Domain
PF07679 I-set 546 633 Immunoglobulin I-set domain Domain
PF00041 fn3 648 733 Fibronectin type III domain Domain
PF00041 fn3 748 833 Fibronectin type III domain Domain
PF00041 fn3 847 940 Fibronectin type III domain Domain
PF00041 fn3 953 1040 Fibronectin type III domain Domain
PF00041 fn3 1068 1148 Fibronectin type III domain Domain
PF13882 Bravo_FIGEY 1191 1280 Bravo-like intracellular region Domain
Tissue specificity TISSUE SPECIFICITY: Detected in all the examined tissues. In the brain it was detected in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus. {ECO:0000269|PubMed:8812479}.
Sequence
MQLKIMPKKKRLSAGRVPLILFLCQMISALEVPLDPKLLEDLVQPPTITQQSPKDYIIDP
RENIVIQCEAKGKPPPSFSWTRNGTHFDIDKDPLVTMKPGTGTLIINIMSEGKAETYEGV
YQCTARN
ERGAAVSNNIVVRPSRSPLWTKEKLEPITLQSGQSLVLPCRPPIGLPPPIIFW
MDNSFQRLPQSERVSQGLNGDLYFSNVLPEDTREDYICYARFNHTQTIQQKQPISVKVIS
VDELNDTIAANLSDTEFYGAKSSRERPPTFLTPEGNASNKEELRGNVLSLECIAEGLPTP
IIYWAKEDGMLPKNRTVYKNFEKTLQIIHVSEADSGNYQCIAKNALGAIHHTISVRV
KAA
PYWITAPQNLVLSPGEDGTLICRANGNPKPRISWLTNGVPIEIAPDDPSRKIDGDTIIFS
NVQERSSAVYQCNASN
EYGYLLANAFVNVLAEPPRILTPANTLYQVIANRPALLDCAFFG
SPLPTIEWFKGAKGSALHEDIYVLHENGTLEIPVAQKDSTGTYTCVARNKLGMAKNEVHL
EI
KDPTWIVKQPEYAVVQRGSMVSFECKVKHDHTLSLTVLWLKDNRELPSDERFTVDKDH
LVVADVSDDDSGTYTCVANTTLDSVSASAVLSV
VAPTPTPAPVYDVPNPPFDLELTDQLD
KSVQLSWTPGDDNNSPITKFIIEYEDAMHKPGLWHHQTEVSGTQTTAQLKLSPYVNYSFR
VMAVNSIGKSLPS
EASEQYLTKASEPDKNPTAVEGLGSEPDNLVITWKPLNGFESNGPGL
QYKVSWRQKDGDDEWTSVVVANVSKYIVSGTPTFVPYLIKVQALNDMGFAPEP
AVVMGHS
GEDLPMVAPGNVRVNVVNSTLAEVHWDPVPLKSIRGHLQGYRIYYWKTQSSSKRNRRHIE
KKILTFQGSKTHGMLPGLEPFSHYTLNVRVVNGKGEGPAS
PDRVFNTPEGVPSAPSSLKI
VNPTLDSLTLEWDPPSHPNGILTEYTLKYQPINSTHELGPLVDLKIPANKTRWTLKNLNF
STRYKFYFYAQTSAGSGSQI
TEEAVTTVDEAGILPPDVGAGKVQAVNPRISNLTAAAAET
YANISWEYEGPEHVNFYVEYGVAGSKEEWRKEIVNGSRSFFGLKGLMPGTAYKVRVGAVG
DSGFVSSE
DVFETGPAMASRQVDIATQGWFIGLMCAVALLILILLIVCFIRRNKGGKYPV
KEKEDAHADPEIQPMKEDDGTFGEYSDAEDHKPLKKGSRTPSDRTVKKEDSDDSLVDYGE
GVNGQFNEDGSFIGQYSGKK
EKEPAEGNESSEAPSPVNAMNSFV
Sequence length 1304
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell adhesion molecules   Neurofascin interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
42
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities Pathogenic; Likely pathogenic rs2153275538, rs140770274, rs201033539, rs2062777274, rs772993703, rs2548032920 RCV002246516
RCV002246518
RCV002246519
RCV002246520
RCV002246521
RCV003221778
NRCAM-related disorder Pathogenic; Likely pathogenic rs2153275538, rs2153369022, rs1298979445, rs140770274, rs1413634373, rs575851831, rs201033539, rs2062777274, rs772993703 RCV001824181
RCV001824182
RCV001824183
RCV001824185
RCV001824186
RCV001824187
RCV001824190
RCV001824191
RCV001824192
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Uncertain significance rs199867432 RCV005929059
High myopia Uncertain significance rs201534122 RCV000785731
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 24902845
Annular pancreas Associate 37635636
Autistic Disorder Associate 18664314
Autoimmune Diseases Associate 35220890
Blood Coagulation Disorders Inherited Associate 36606341
Breast Neoplasms Associate 21281495
Carcinogenesis Associate 31322225
Colorectal Neoplasms Associate 21718388
COVID 19 Associate 33301474
Developmental Disabilities Associate 36606341