CARMIL2 (capping protein regulator and myosin 1 linker 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID 146206
Gene name Capping protein regulator and myosin 1 linker 2
Gene symbol CARMIL2
Synonyms (NCBI Gene)
CARMIL2bIMD58LRRC16CRLTPR
Chromosome 16
Chromosome location 16q22.1
Summary 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.
12
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
610859 27089 ENSG00000159753
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
98
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CARMIL2-related disorder Likely pathogenic; Pathogenic rs2543550264, rs1234367830, rs2543547067 RCV003399566
RCV003402115
RCV003393209
Chronic colitis Likely pathogenic; Pathogenic rs1567629968 RCV000681615
Combined immunodeficiency Pathogenic; Likely pathogenic rs886041043, rs886041044, rs1567629968 RCV000258850
RCV000258853
RCV000681615
Severe combined immunodeficiency due to CARMIL2 deficiency Likely pathogenic; Pathogenic rs758210528, rs765817045, rs780608299, rs886041043, rs886041044, rs1278614363, rs2052672266, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs774594582, rs1567628294 RCV001533422
RCV001808110
RCV001824237
RCV000684759
RCV000684760
RCV003337933
RCV003493224
RCV004997138
RCV000684755
RCV000684756
RCV000684757
RCV000684761
RCV000684762
RCV001255614
RCV001262691
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colon adenocarcinoma Uncertain significance rs200995809 RCV005911026
Gastric cancer Benign; Likely benign rs116162519, rs752094175 RCV005927850
RCV005935018
Thymoma Conflicting classifications of pathogenicity; Likely benign rs150710381, rs770766359 RCV005927877
RCV005928379
Show/Hide Text Mining Associations (22)
Associations from Text MiningDisease 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