Gene Gene information from NCBI Gene database.
Entrez ID 79827
Gene name CXADR like cell adhesion molecule
Gene symbol CLMP
Synonyms (NCBI Gene)
ACAMASAMCSBMCSBS
Chromosome 11
Chromosome location 11q24.1
Summary 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
SNPs SNP information provided by dbSNP.
7
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
miRNA miRNA information provided by mirtarbase database.
398
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005881 Component Cytoplasmic microtubule IDA 23264731
GO:0005881 Component Cytoplasmic microtubule IEA
GO:0005886 Component Plasma membrane IEA
GO:0005923 Component Bicellular tight junction IDA 22155368
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611693 24039 ENSG00000166250
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in epithelial cells within different tissues and in the white adipose tissue. Expressed at high levels in small intestine and placenta, at intermediate levels in the heart, skeletal muscle, colon, spleen, kidney
Sequence
MSLLLLLLLVSYYVGTLGTHTEIKRVAEEKVTLPCHHQLGLPEKDTLDIEWLLTDNEGNQ
KVVITYSSRHVYNNLTEEQKGRVAFASNFLAGDASLQIEPLKPSDEGRYTCKVKNSGRYV
WSHVILKV
LVRPSKPKCELEGELTEGSDLTLQCESSSGTEPIVYYWQRIREKEGEDERLP
PKSRIDYNHPGRVLLQNLTMSYSGLYQCTAGNEAGKESCVVRVTV
QYVQSIGMVAGAVTG
IVAGALLIFLLVWLLIRRKDKERYEEEERPNEIREDAEAPKARLVKPSSSSSGSRSSRSG
SSSTRSTANSASRSQRTLSTDAAPQPGLATQAYSLVGPEVRGSEPKKVHHANLTKAETTP
SMIPSQSRAFQTV
Sequence length 373
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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 Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital short bowel syndrome Likely pathogenic; Pathogenic rs765907815 RCV001847943
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital short bowel syndrome, autosomal recessive Likely pathogenic; Pathogenic rs765907815, rs749804569, rs1394600425, rs587776964, rs587776965, rs587776966, rs587776967 RCV002517422
RCV003142277
RCV003226009
RCV000043524
RCV000043525
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intestinal pseudo-obstruction Likely pathogenic; Pathogenic rs765907815, rs587776966 RCV000236558
RCV000043526
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLMP-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyloidosis cutis dyschromia Amyloidosis Cutis Dyschromia BEFREE 31783056
★☆☆☆☆
Found in Text Mining only
Avellino corneal dystrophy Avellino Corneal Dystrophy BEFREE 31783056
★☆☆☆☆
Found in Text Mining only
Chronic intestinal pseudo-obstruction Intestinal Pseudoobstruction BEFREE 27720179
★☆☆☆☆
Found in Text Mining only
Colitis Ulcerative Ulcerative colitis Pubtator 33793617 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 32859214 Associate
★☆☆☆☆
Found in Text Mining only
Congenital malrotation of intestine Congenital malrotation of intestine HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital shortened small intestine Congenital shortened small intestine HPO_DG
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis BEFREE 28081250
★☆☆☆☆
Found in Text Mining only
Dermatitis Allergic Contact Allergic contact dermatitis Pubtator 31783056 Inhibit
★☆☆☆☆
Found in Text Mining only
Dwarfism Dwarfism HPO_DG
★☆☆☆☆
Found in Text Mining only