G2Cdb::Gene report

Gene id
G00001881
Gene symbol
L1CAM (HGNC)
Species
Homo sapiens
Description
L1 cell adhesion molecule
Orthologue
G00000632 (Mus musculus)

Databases (8)

Curated Gene
OTTHUMG00000024221 (Vega human gene)
Gene
ENSG00000198910 (Ensembl human gene)
3897 (Entrez Gene)
90 (G2Cdb plasticity & disease)
L1CAM (GeneCards)
Literature
308840 (OMIM)
Marker Symbol
HGNC:6470 (HGNC)
Protein Sequence
P32004 (UniProt)

Synonyms (1)

  • CD171

Diseases (18)

Disease Nervous effect Mutations Found Literature Mutations Type Genetic association?
D00000217: X-linked hydrocephalus Y Y (1303258) Splice site mutation (SpS) Y
D00000188: Spastic paraplegia (X-linked complicated) Y Y (7562969) Unknown (?) Y
D00000176: MASA syndrome Y Y (7562969) Unknown (?) Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius Y Y (7562969) Unknown (?) Y
D00000217: X-linked hydrocephalus Y Y (7762552) Unknown (?) Y
D00000176: MASA syndrome Y Y (7762552) Unknown (?) Y
D00000217: X-linked hydrocephalus Y Y (7881431) Microinsertion (MI) Y
D00000176: MASA syndrome Y Y (7881431) Microinsertion (MI) Y
D00000189: Spastic paraplegia (X-linked) Y Y (7920659) Deletion (D) Y
D00000189: Spastic paraplegia (X-linked) Y Y (7920659) Microinsertion (MI) Y
D00000176: MASA syndrome Y Y (7920659) Deletion (D) Y
D00000176: MASA syndrome Y Y (7920659) Microinsertion (MI) Y
D00000176: MASA syndrome Y Y (7920660) Deletion (D) Y
D00000176: MASA syndrome Y Y (7920660) Single nucleotide polymorphism (SNP) Y
D00000217: X-linked hydrocephalus Y Y (8069317) Splice site mutation (SpS) Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius Y Y (8401593) Duplication (Du) Y
D00000217: X-linked hydrocephalus Y Y (8728703) Deletion (D) Y
D00000217: X-linked hydrocephalus Y Y (8741350) Deletion (D) Y
D00000217: X-linked hydrocephalus Y Y (8786080) Deletion (D) Y
D00000217: X-linked hydrocephalus Y Y (8929944) Frameshift mutation (FS) Y
D00000217: X-linked hydrocephalus Y Y (8929944) Nonsense (No) Y
D00000217: X-linked hydrocephalus Y Y (8929944) Microinsertion (MI) Y
D00000217: X-linked hydrocephalus Y Y (9088116) Unknown (?) Y
D00000217: X-linked hydrocephalus Y Y (9195224) Microinsertion (MI) Y
D00000217: X-linked hydrocephalus Y Y (9195224) Nonsense (No) Y
D00000217: X-linked hydrocephalus Y Y (9195224) Deletion (D) Y
D00000217: X-linked hydrocephalus Y Y (9195224) Splice site mutation (SpS) Y
D00000217: X-linked hydrocephalus Y Y (9195224) Frameshift mutation (FS) Y
D00000217: X-linked hydrocephalus Y Y (9268105) Nonsense (No) Y
D00000217: X-linked hydrocephalus Y Y (9268105) Microinsertion (MI) Y
D00000217: X-linked hydrocephalus Y Y (9268105) Deletion (D) Y
D00000217: X-linked hydrocephalus Y Y (9279760) Unknown (?) ?
D00000290: Hirschsprung's disease N Y (9279760) Unknown (?) ?
D00000217: X-linked hydrocephalus Y Y (9440802) Deletion (D) Y
D00000217: X-linked hydrocephalus Y Y (9452098) Splice site mutation (SpS) Y
D00000211: Spastic paraplegia Y Y (9452098) Splice site mutation (SpS) Y
D00000217: X-linked hydrocephalus Y Y (9521424) Splice site mutation (SpS) Y
D00000217: X-linked hydrocephalus Y Y (9521424) Microinsertion (MI) Y
D00000176: MASA syndrome Y Y (9521424) Splice site mutation (SpS) Y
D00000176: MASA syndrome Y Y (9521424) Microinsertion (MI) Y
D00000323: CRASH syndrome Y Y (9610803) Unknown (?) Y
D00000217: X-linked hydrocephalus Y Y (9643285) Single nucleotide polymorphism (SNP) Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius Y Y (9744477) Microinsertion (MI) Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius Y Y (9744477) Nonsense (No) Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius Y Y (9744477) Deletion (D) Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius Y Y (9744477) Splice site mutation (SpS) Y
D00000176: MASA syndrome Y Y (9744477) Microinsertion (MI) Y
D00000176: MASA syndrome Y Y (9744477) Nonsense (No) Y
D00000176: MASA syndrome Y Y (9744477) Deletion (D) Y
D00000176: MASA syndrome Y Y (9744477) Splice site mutation (SpS) Y
D00000217: X-linked hydrocephalus Y Y (10797421) Nonsense (No) Y
D00000217: X-linked hydrocephalus Y Y (10797421) Frameshift mutation (FS) Y
D00000217: X-linked hydrocephalus Y Y (10797421) Splice site mutation (SpS) Y
D00000166: Schizophrenia Y Y (11425011) Single nucleotide polymorphism (SNP) Y
D00000215: Hydrocephalus Y Y (11857550) Single nucleotide polymorphism (SNP) ?
D00000290: Hirschsprung's disease N Y (11857550) Single nucleotide polymorphism (SNP) ?
D00000217: X-linked hydrocephalus Y Y (12435569) Microinsertion (MI) Y
D00000217: X-linked hydrocephalus Y Y (12725590) Unknown (?) Y
D00000217: X-linked hydrocephalus Y Y (15108295) Single nucleotide polymorphism (SNP) Y
D00000217: X-linked hydrocephalus Y Y (15108295) Deletion (D) Y
D00000217: X-linked hydrocephalus Y Y (15108295) Insertion (I) Y
D00000217: X-linked hydrocephalus Y Y (15148591) Splice site mutation (SpS) Y
D00000217: X-linked hydrocephalus Y Y (15148591) Nonsense (No) Y
D00000290: Hirschsprung's disease N Y (15148591) Splice site mutation (SpS) Y
D00000290: Hirschsprung's disease N Y (15148591) Nonsense (No) Y
D00000216: L1 syndrome Y Y (15662685) Unknown (?) Y
D00000216: L1 syndrome Y Y (15904436) Nonsense (No) Y
D00000216: L1 syndrome Y Y (16088863) Deletion (D) Y
D00000216: L1 syndrome Y Y (16650080) Microinsertion (MI) Y
D00000216: L1 syndrome Y Y (16816908) Microinsertion (MI) Y
D00000215: Hydrocephalus Y Y (17294222) Deletion (D) Y
D00000292: Duplex kidneys N Y (17294222) Deletion (D) Y
D00000218: Hydrocephalus-stenosis of the aqueduct of Sylvius Y Y (17318848) Microdeletion (MD) Y
D00000271: Nephrogenic diabetes insipidus N Y (17318848) Microdeletion (MD) Y
D00000216: L1 syndrome Y Y (17328266) Nonsense (No) Y
D00000216: L1 syndrome Y Y (17328266) Frameshift mutation (FS) Y
D00000216: L1 syndrome Y Y (17328266) Splice site mutation (SpS) Y
D00000198: Epilepsy (autosomal dominant partial with auditory features) Y Y (15079010) Microinsertion (MI) Y
D00000198: Epilepsy (autosomal dominant partial with auditory features) Y Y (15079011) Microinsertion (MI) Y
D00000202: Epilepsy (temporal lobe) Y Y (15199738) No mutation found (N) N
D00000207: Hereditary motor and sensory neuropathy Y Y (15199738) No mutation found (N) N
D00000201: Epilepsy (partial with auditory features) Y Y (15654555) No mutation found (N) N
D00000197: Epilepsy (autosomal dominant lateral temporal) Y Y (17296837) Single nucleotide polymorphism (SNP) Y
D00000197: Epilepsy (autosomal dominant lateral temporal) Y Y (17296837) Single nucleotide polymorphism (SNP) Y

References

Literature (141)

Pubmed - human_disease

Pubmed - other

Gene lists (8)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000013 G2C Homo sapiens Human mGluR5 Human orthologues of mouse mGluR5 complex adapted from Collins et al (2006) 52
L00000015 G2C Homo sapiens Human NRC Human orthologues of mouse NRC adapted from Collins et al (2006) 186
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000059 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-CONSENSUS Human cortex PSD consensus 748
L00000061 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-CONSENSUS Mouse cortex PSD consensus (ortho) 984
L00000069 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-FULL Human cortex biopsy PSD full list 1461
L00000071 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-FULL Mouse cortex PSD full list (ortho) 1556
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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