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CLMP (CXADR like cell adhesion molecule)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79827
Gene nameGene Name - the full gene name approved by the HGNC.
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.
CLMP
SynonymsGene synonyms aliases
ACAM, ASAM, CSBM, CSBS
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022869 hsa-miR-124-3p Microarray 18668037
MIRT643395 hsa-miR-877-3p HITS-CLIP 23824327
MIRT643393 hsa-miR-4635 HITS-CLIP 23824327
MIRT643394 hsa-miR-324-5p HITS-CLIP 23824327
MIRT643392 hsa-miR-520d-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005881 Component Cytoplasmic microtubule IDA 23264731
GO:0005886 Component Plasma membrane IEA
GO:0005923 Component Bicellular tight junction IDA 22155368
GO:0009986 Component Cell surface HDA 19581412
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MSLLLLLLLVSYYVGTLGTHTEIKRVAEEKVTLPCHHQLGLPEKDTLDIEWLLTDNEGNQ
KVVITYSSRHVYNNLTEEQKGRVAFASNFLAGDASLQIEPLKPSDEGRYTCKVKNSGRYV
WSHVILKV
LVRPSKPKCELEGELTEGSDLTLQCESSSGTEPIVYYWQRIREKEGEDERLP
PKSRIDYNHPGRVLLQNLTMSYSGLYQCTAGNEAGKESCVVRVTV
QYVQSIGMVAGAVTG
IVAGALLIFLLVWLLIRRKDKERYEEEERPNEIREDAEAPKARLVKPSSSSSGSRSSRSG
SSSTRSTANSASRSQRTLSTDAAPQPGLATQAYSLVGPEVRGSEPKKVHHANLTKAETTP
SMIPSQSRAFQTV
Sequence length 373
Interactions View interactions
Associated diseases
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
Intestinal pseudoobstruction Intestinal Pseudo-Obstruction rs587776966, rs765907815 22155368, 27352967
Lipodystrophy Lipodystrophy rs553668, rs766817317
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
Unknown
Disease name Disease term dbSNP ID References
Congenital malrotation of intestine Congenital malrotation of intestine
Congenital shortened small intestine Congenital shortened small intestine
Dwarfism Dwarfism
Impaired cognition Impaired cognition

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