CARMIL2 (capping protein regulator and myosin 1 linker 2)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
146206
Gene name Gene Name - the full gene name approved by the HGNC.
Capping protein regulator and myosin 1 linker 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CARMIL2
Synonyms (NCBI Gene) Gene synonyms aliases
CARMIL2b, IMD58, LRRC16C, RLTPR
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this g
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
SNP ID Visualize variation Clinical significance Consequence
rs751102649 C>G,T Likely-pathogenic Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs775061512 T>A,G Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs886041043 ->G Pathogenic Frameshift variant, non coding transcript variant, coding sequence variant
rs886041044 G>T Pathogenic Splice donor variant
rs1555539013 G>T Likely-pathogenic Splice donor variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0001726 Component Ruffle IDA 26466680, 26578515
GO:0001726 Component Ruffle IEA
GO:0005543 Function Phospholipid binding IDA 26578515
GO:0005737 Component Cytoplasm IDA 19846667, 26466680
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610859 27089 ENSG00000159753
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q6F5E8
Protein name Capping protein, Arp2/3 and myosin-I linker protein 2 (Capping protein regulator and myosin 1 linker 2) (F-actin-uncapping protein RLTPR) (Leucine-rich repeat-containing protein 16C) (RGD, leucine-rich repeat, tropomodulin and proline-rich-containing prot
Protein function Cell membrane-cytoskeleton-associated protein that plays a role in the regulation of actin polymerization at the barbed end of actin filaments. Prevents F-actin heterodimeric capping protein (CP) activity at the leading edges of migrating cells,
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17888 Carm_PH 34 → 120 Carmil pleckstrin homology domain Domain
PF13516 LRR_6 273 → 296 Leucine Rich repeat Repeat
PF13516 LRR_6 607 → 630 Leucine Rich repeat Repeat
PF16000 CARMIL_C 819 → 1112 CARMIL C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues tested, including thymus, spleen, colon, leukocytes, peripheral blood, skin, skin keratinocytes and skin fibroblasts. Strong expression is detected in naive and memory CD4+ and CD8+ T cells, naive and memory B
Sequence 
MAQTPDGISCELRGEITRFLWPKEVELLLKTWLPGEGAVQNHVLALLRWRAYLLHTTCLP
LRVDCTFSYLEVQAMALQETPPQVTFELESLRELVLEFPGVAALEQLAQHVAAAIKKVFP
RSTLGKLFRRPTPASMLARLERSSPSESTDPCSPCGGFLETYEALCDYNGFPFREEIQWD
VDTIYHRQGCRHFSLGDFSHLGSRDLALSVAALSYNLWFRCLSCVDMKLSLEVSEQILHM
MSQSSHLEELVLETCSLRGDFVRRLAQALAGHSSSGLRELSLAGNLLDDRGMTALSRHLE
RCPGALRRLSLAQTGLTPRGMRALGRALATNAAFDSTLTHLDLSGNPGALGASEDSGGLY
SFLSRPNVLSFLNLAGTDTALDTVRGCSVGGWMTGRADWRAGRGGLGPPAGVANSLPPQL
FAAVSRGCCTSLTHLDASRNVFSRTKSRAAPAALQLFLSRARTLRHLGLAGCKLPPDALR
ALLDGLALNTHLRDLHLDLSACELRSAGAQVIQDLVCDAGAVSSLDLADNGFGSDMVTLV
LAIGRSRSLRHVALGRNFNVRCKETLDDVLHRIVQLMQDDDCPLQSLSVAESRLKLGASV
LLRALATNPNLTALDISGNAMGDAGAKLLAKALRVNSRLRSVVWDRNHTSALGLLDVAQA
LEQNHSLKAMPLPLNDVAQAQRSRPELTARAVHQIQACLLRNNRADPASSDHTTRLQPLG
LVSDPSEQEVNELCQSVQEHVELLGCGAGPQGEAAVRQAEDAIQNANFSLSILPILYEAG
SSPSHHWQLGQKLEGLLRQVGEVCRQDIQDFTQATLDTARSLCPQMLQGSSWREQLEGVL
AGSRGLPELLPEQLLQDAFTRLRDMRLSITGTLAESIVAQALAGLSAARDQLVESLAQQA
TVTMPPALPAPDGGEPSLLEPGELEGLFFPEEKEEEKEKDDSPPQKWPELSHGLHLVPFI
HSAAEEAEPEPELAAPGEDAEPQAGPSARGSPSPAAPGPPAGPLPRMDLPLAGQPLRHPT
RARPRPRRQHHHRPPPGGPQVPPALPQEGNGLSARVDEGVEEFFSKRLIQQDRLWAPEED
PATEGGATPVPRTLRKKLGTLFAFKKPRSTRGPRTDLETSPGAAPRTRKTTFGDLLRPPT
RPSRGEELGGAEGDTSSPDPAGRSRPRYTRDSKAYSMILLPAEEEATLGARPDKRRPLER
GETELAPSFEQRVQVMLQRIGVSRGSGGAEGKRKQSKDGEIKKAGSDGDIMDSSTEAPPI
SIKSRTHSVSADPSCRPGPGSQGPESATWKTLGQQLNAELRSRGWGQQDGPGPPSPGQSP
SPCRTSPSPDSLGLPEDPCLGPRNEDGQLRPRPLSAGRRAVSVHEDQLQAPAERPLRLQR
SPVLKRRPKLEAPPSPSLGSGLGTEPLPPQPTEPSSPERSPPSPATDQRGGGPNP
Sequence length 1435
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Severe combined immunodeficiency disease severe combined immunodeficiency due to carmil2 deficiency, combined immunodeficiency rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs886041043, rs886041044 N/A
Show/Hide Text Mining Associations (22)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Candidiasis Associate 27647349
Colorectal Neoplasms Associate 32586834
Dermatitis Associate 29479355, 34287962
Diarrhea Associate 34287962
Epstein Barr Virus Infections Associate 32625199, 34287962
Hypersensitivity Associate 27647349
Immunologic Deficiency Syndromes Associate 33723309
Infections Associate 29479355, 33723309
Inflammatory Bowel Diseases Associate 31115454, 32201938, 33723309, 34287962, 36515678
Lymphoma B Cell Associate 27647349