Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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79827 |
Gene nameGene Name - the full gene name approved by the HGNC.
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CXADR like cell adhesion molecule |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CLMP |
SynonymsGene synonyms aliases
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ACAM, ASAM, CSBM, CSBS |
ChromosomeChromosome number
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11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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11q24.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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This gene encodes a type I transmembrane protein that is localized to junctional complexes between endothelial and epithelial cells and may have a role in cell-cell adhesion. Expression of this gene in white adipose tissue is implicated in adipocyte matur |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs587776964 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs587776965 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs587776966 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs587776967 |
A>G,T |
Pathogenic |
Coding sequence variant, missense variant |
rs765907815 |
G>A,C |
Pathogenic |
Missense variant, coding sequence variant, stop gained |
rs879253854 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs879253855 |
T>C |
Pathogenic |
Splice acceptor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
Q9H6B4 |
Protein name |
CXADR-like membrane protein (Adipocyte adhesion molecule) (Coxsackie- and adenovirus receptor-like membrane protein) (CAR-like membrane protein) |
Protein function |
May be involved in the cell-cell adhesion. May play a role in adipocyte differentiation and development of obesity. Is required for normal small intestine development. {ECO:0000269|PubMed:14573622, ECO:0000269|PubMed:15563274, ECO:0000269|PubMed |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF07686 |
V-set |
18 → 129 |
Immunoglobulin V-set domain |
Domain |
PF13895 |
Ig_2 |
129 → 225 |
Immunoglobulin domain |
Domain |
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Sequence |
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Sequence length |
373 |
Interactions |
View interactions |
Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Hypotrichosis |
Hypotrichosis |
rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121 |
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Intestinal pseudoobstruction |
Intestinal Pseudo-Obstruction |
rs587776966, rs765907815 |
22155368, 27352967 |
Lipodystrophy |
Lipodystrophy |
rs553668, rs766817317 |
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Visceral myopathy |
Visceral Myopathy |
rs587777383, rs587777384, rs587777385, rs78001248, rs587777386, rs587777387, rs587777388, rs786205435, rs587777870, rs730880256, rs797044959, rs864309490, rs864309491, rs768290597, rs864309492, rs777696417, rs1553787823, rs1057516046, rs1553787619, rs1553396458, rs1596904322, rs1573468797, rs1573461481, rs1573462811, rs757905857, rs1680192455 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Congenital malrotation of intestine |
Congenital malrotation of intestine |
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Congenital shortened small intestine |
Congenital shortened small intestine |
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Dwarfism |
Dwarfism |
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Impaired cognition |
Impaired cognition |
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Lipoatrophy |
Lipoatrophy |
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Paralytic ileus |
Paralytic Ileus |
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