NRCAM (neuronal cell adhesion molecule)

Gene

• 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

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
MIRT1193799	hsa-miR-205	CLIP-seq
MIRT1193800	hsa-miR-23a	CLIP-seq
MIRT1193801	hsa-miR-23b	CLIP-seq
MIRT1193802	hsa-miR-23c	CLIP-seq
MIRT1193803	hsa-miR-2467-3p	CLIP-seq
MIRT1193804	hsa-miR-3125	CLIP-seq
MIRT1193805	hsa-miR-3152-5p	CLIP-seq
MIRT1193806	hsa-miR-3158-5p	CLIP-seq
MIRT1193807	hsa-miR-3545-3p	CLIP-seq
MIRT1193808	hsa-miR-3678-3p	CLIP-seq
MIRT1193809	hsa-miR-3713	CLIP-seq
MIRT1193810	hsa-miR-3916	CLIP-seq
MIRT1193811	hsa-miR-4491	CLIP-seq
MIRT1193812	hsa-miR-4657	CLIP-seq
MIRT1193813	hsa-miR-4704-3p	CLIP-seq
MIRT1193814	hsa-miR-4711-5p	CLIP-seq
MIRT1193815	hsa-miR-4774-3p	CLIP-seq
MIRT1193816	hsa-miR-486-5p	CLIP-seq
MIRT1193817	hsa-miR-1207-3p	CLIP-seq
MIRT1193818	hsa-miR-129-5p	CLIP-seq
MIRT1193819	hsa-miR-1296	CLIP-seq
MIRT1193820	hsa-miR-191	CLIP-seq
MIRT1193821	hsa-miR-2909	CLIP-seq
MIRT1193822	hsa-miR-302a	CLIP-seq
MIRT1193823	hsa-miR-302b	CLIP-seq
MIRT1193824	hsa-miR-302c	CLIP-seq
MIRT1193825	hsa-miR-302d	CLIP-seq
MIRT1193826	hsa-miR-302e	CLIP-seq
MIRT1193827	hsa-miR-372	CLIP-seq
MIRT1193828	hsa-miR-373	CLIP-seq
MIRT1193829	hsa-miR-4307	CLIP-seq
MIRT1193830	hsa-miR-4424	CLIP-seq
MIRT1193831	hsa-miR-4512	CLIP-seq
MIRT1193832	hsa-miR-4529-5p	CLIP-seq
MIRT1193833	hsa-miR-4718	CLIP-seq
MIRT1193834	hsa-miR-4760-3p	CLIP-seq
MIRT1193835	hsa-miR-520a-3p	CLIP-seq
MIRT1193836	hsa-miR-520b	CLIP-seq
MIRT1193837	hsa-miR-520c-3p	CLIP-seq
MIRT1193838	hsa-miR-520d-3p	CLIP-seq
MIRT1193839	hsa-miR-520e	CLIP-seq
MIRT1193840	hsa-miR-520f	CLIP-seq
MIRT1193841	hsa-miR-543	CLIP-seq
MIRT1193842	hsa-miR-570	CLIP-seq
MIRT1193843	hsa-miR-619	CLIP-seq
MIRT1193844	hsa-miR-651	CLIP-seq
MIRT1193817	hsa-miR-1207-3p	CLIP-seq
MIRT1193834	hsa-miR-4760-3p	CLIP-seq
MIRT2056214	hsa-miR-101	CLIP-seq
MIRT2056215	hsa-miR-1273d	CLIP-seq
MIRT2056216	hsa-miR-1284	CLIP-seq
MIRT2056217	hsa-miR-3065-5p	CLIP-seq
MIRT2056218	hsa-miR-3120-3p	CLIP-seq
MIRT1193814	hsa-miR-4711-5p	CLIP-seq
MIRT2056219	hsa-miR-4803	CLIP-seq
MIRT2056220	hsa-miR-577	CLIP-seq
MIRT2056221	hsa-miR-660	CLIP-seq
MIRT2284806	hsa-miR-132	CLIP-seq
MIRT2284807	hsa-miR-212	CLIP-seq
MIRT1193803	hsa-miR-2467-3p	CLIP-seq
MIRT2056218	hsa-miR-3120-3p	CLIP-seq
MIRT1193808	hsa-miR-3678-3p	CLIP-seq
MIRT2056218	hsa-miR-3120-3p	CLIP-seq
MIRT2284808	hsa-miR-3145-3p	CLIP-seq
MIRT2284809	hsa-miR-4703-3p	CLIP-seq
MIRT1193814	hsa-miR-4711-5p	CLIP-seq
MIRT2284810	hsa-miR-548g	CLIP-seq
MIRT2284811	hsa-miR-633	CLIP-seq
MIRT2582611	hsa-miR-3143	CLIP-seq
MIRT2582612	hsa-miR-526b	CLIP-seq
MIRT1193841	hsa-miR-543	CLIP-seq
MIRT1193842	hsa-miR-570	CLIP-seq
MIRT2582613	hsa-miR-802	CLIP-seq
MIRT2582611	hsa-miR-3143	CLIP-seq
MIRT2582612	hsa-miR-526b	CLIP-seq
MIRT1193841	hsa-miR-543	CLIP-seq
MIRT1193842	hsa-miR-570	CLIP-seq
MIRT2582613	hsa-miR-802	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTNNB1	Unknown	17724465
LEF1	Activation	12183361

Gene ontology (GO)

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
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	8812479
GO:0005886	Component	Plasma membrane	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0007409	Process	Axonogenesis	NAS	8812479
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007413	Process	Axonal fasciculation	NAS	8812479
GO:0007416	Process	Synapse assembly	TAS	8812479
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IMP	35108495
GO:0007417	Process	Central nervous system development	NAS	8812479
GO:0007420	Process	Brain development	IBA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0009897	Component	External side of plasma membrane	NAS	8812479
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0019227	Process	Neuronal action potential propagation	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030506	Function	Ankyrin binding	IDA	14602817
GO:0030516	Process	Regulation of axon extension	NAS	8812479
GO:0031290	Process	Retinal ganglion cell axon guidance	IEA
GO:0034113	Process	Heterotypic cell-cell adhesion	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	NAS	8812479
GO:0043194	Component	Axon initial segment	ISS
GO:0045162	Process	Clustering of voltage-gated sodium channels	IDA	14602817
GO:0045162	Process	Clustering of voltage-gated sodium channels	IEA
GO:0045162	Process	Clustering of voltage-gated sodium channels	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	NAS	8812479
GO:0050808	Process	Synapse organization	IEA
GO:0086080	Function	Protein binding involved in heterotypic cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	NAS	8812479
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099175	Process	Regulation of postsynapse organization	IEA

Other IDs

• MIM: 601581
• HGNC: 7994
• e!Ensembl: ENSG00000091129

Protein

• UniProt ID: 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
  YQCTARNERGAAVSNNIVVRPSRSPLWTKEKLEPITLQSGQSLVLPCRPPIGLPPPIIFW
  MDNSFQRLPQSERVSQGLNGDLYFSNVLPEDTREDYICYARFNHTQTIQQKQPISVKVIS
  VDELNDTIAANLSDTEFYGAKSSRERPPTFLTPEGNASNKEELRGNVLSLECIAEGLPTP
  IIYWAKEDGMLPKNRTVYKNFEKTLQIIHVSEADSGNYQCIAKNALGAIHHTISVRVKAA
  PYWITAPQNLVLSPGEDGTLICRANGNPKPRISWLTNGVPIEIAPDDPSRKIDGDTIIFS
  NVQERSSAVYQCNASNEYGYLLANAFVNVLAEPPRILTPANTLYQVIANRPALLDCAFFG
  SPLPTIEWFKGAKGSALHEDIYVLHENGTLEIPVAQKDSTGTYTCVARNKLGMAKNEVHL
  EIKDPTWIVKQPEYAVVQRGSMVSFECKVKHDHTLSLTVLWLKDNRELPSDERFTVDKDH
  LVVADVSDDDSGTYTCVANTTLDSVSASAVLSVVAPTPTPAPVYDVPNPPFDLELTDQLD
  KSVQLSWTPGDDNNSPITKFIIEYEDAMHKPGLWHHQTEVSGTQTTAQLKLSPYVNYSFR
  VMAVNSIGKSLPSEASEQYLTKASEPDKNPTAVEGLGSEPDNLVITWKPLNGFESNGPGL
  QYKVSWRQKDGDDEWTSVVVANVSKYIVSGTPTFVPYLIKVQALNDMGFAPEPAVVMGHS
  GEDLPMVAPGNVRVNVVNSTLAEVHWDPVPLKSIRGHLQGYRIYYWKTQSSSKRNRRHIE
  KKILTFQGSKTHGMLPGLEPFSHYTLNVRVVNGKGEGPASPDRVFNTPEGVPSAPSSLKI
  VNPTLDSLTLEWDPPSHPNGILTEYTLKYQPINSTHELGPLVDLKIPANKTRWTLKNLNF
  STRYKFYFYAQTSAGSGSQITEEAVTTVDEAGILPPDVGAGKVQAVNPRISNLTAAAAET
  YANISWEYEGPEHVNFYVEYGVAGSKEEWRKEIVNGSRSFFGLKGLMPGTAYKVRVGAVG
  DSGFVSSEDVFETGPAMASRQVDIATQGWFIGLMCAVALLILILLIVCFIRRNKGGKYPV
  KEKEDAHADPEIQPMKEDDGTFGEYSDAEDHKPLKKGSRTPSDRTVKKEDSDDSLVDYGE
  GVNGQFNEDGSFIGQYSGKKEKEPAEGNESSEAPSPVNAMNSFV

• Sequence length: 1304

Pathways

KEGG:

Cell adhesion molecules

Reactome:

Neurofascin interactions

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	Pathogenic; Likely pathogenic	rs2153275538, rs140770274, rs201033539, rs2062777274, rs772993703, rs2548032920	RCV002246516 RCV002246518 RCV002246519 RCV002246520 RCV002246521 RCV003221778	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NRCAM-related disorder	Pathogenic; Likely pathogenic	rs2153275538, rs2153369022, rs1298979445, rs140770274, rs1413634373, rs575851831, rs201033539, rs2062777274, rs772993703	RCV001824181 RCV001824182 RCV001824183 RCV001824185 RCV001824186 RCV001824187 RCV001824190 RCV001824191 RCV001824192	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIAL CLEFT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	LHGDN	18602664		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	24902845	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26334118, 29415226		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15128462, 15523497, 17106428, 18664314, 22182708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	17106428, 18664314		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18664314	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune disease	Pubtator	35220890	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders Inherited	Blood coagulation disorder	Pubtator	36606341	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21281495		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21281495	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	31322225	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12183361		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	12183361		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500, 21278247		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21718388		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500, 21278247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21718388	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	36606341	Associate	★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	35220890	Associate	★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	36181733	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	18602664	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	21281495	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	10797421, 9744477		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36606341	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21281495		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	27732334		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	12183361		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18507500		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12183361, 14583455, 16357171		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	12183361		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	22182708		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	10797421, 9744477		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12183361, 16357171, 27732334		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36499391	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	20132413	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30397360	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	17667921, 27732334		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	36606341	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	21718388	Stimulate	★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	36606341	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31322225	Stimulate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26674772		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	17667921	Stimulate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	27732334		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	17667921		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	27732334		★☆☆☆☆ Found in Text Mining only
Weaver syndrome	Weaver Syndrome	BEFREE	23527149		★☆☆☆☆ Found in Text Mining only
X-linked hydrocephalus syndrome	Hydrocephalus Syndrome, X-Linked	BEFREE	12435569		★☆☆☆☆ Found in Text Mining only