• Gene id: 146206

Gene Summary

• Gene Symbol: CARMIL2   Gene   UCSC   Ensembl
• Aliases: CARMIL2b, IMD58, LRRC16C, RLTPR
• Gene name: capping protein regulator and myosin 1 linker 2
• Alternate names: capping protein, Arp2/3 and myosin-I linker protein 2, F-actin-uncapping protein RLTPR, RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing, RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein, leucine rich ,
• Gene location: 16q22.1 (67645003: 67657568)     Exons: 39     NC_000016.10
• Gene summary(Entrez): 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
• OMIM: 612051

Protein Summary

• Protein general information: Q6F5E8  
  • 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
  • Length: 1435  
  • Mass: 154689
  • 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:

  MAQTPDGISCELRGEITRFLWPKEVELLLKTWLPGEGAVQNHVLALLRWRAYLLHTTCLPLRVDCTFSYLEVQAM
  ALQETPPQVTFELESLRELVLEFPGVAALEQLAQHVAAAIKKVFPRSTLGKLFRRPTPASMLARLERSSPSESTD
  PCSPCGGFLETYEALCDYNGFPFREEIQWDVDTIYHRQGCRHFSLGDFSHLGSRDLALSVAALSYNLWFRCLSCV
  DMKLSLEVSEQILHMMSQSSHLEELVLETCSLRGDFVRRLAQALAGHSSSGLRELSLAGNLLDDRGMTALSRHLE
  RCPGALRRLSLAQTGLTPRGMRALGRALATNAAFDSTLTHLDLSGNPGALGASEDSGGLYSFLSRPNVLSFLNLA
  GTDTALDTVRGCSVGGWMTGRADWRAGRGGLGPPAGVANSLPPQLFAAVSRGCCTSLTHLDASRNVFSRTKSRAA
  PAALQLFLSRARTLRHLGLAGCKLPPDALRALLDGLALNTHLRDLHLDLSACELRSAGAQVIQDLVCDAGAVSSL
  DLADNGFGSDMVTLVLAIGRSRSLRHVALGRNFNVRCKETLDDVLHRIVQLMQDDDCPLQSLSVAESRLKLGASV
  LLRALATNPNLTALDISGNAMGDAGAKLLAKALRVNSRLRSVVWDRNHTSALGLLDVAQALEQNHSLKAMPLPLN
  DVAQAQRSRPELTARAVHQIQACLLRNNRADPASSDHTTRLQPLGLVSDPSEQEVNELCQSVQEHVELLGCGAGP
  QGEAAVRQAEDAIQNANFSLSILPILYEAGSSPSHHWQLGQKLEGLLRQVGEVCRQDIQDFTQATLDTARSLCPQ
  MLQGSSWREQLEGVLAGSRGLPELLPEQLLQDAFTRLRDMRLSITGTLAESIVAQALAGLSAARDQLVESLAQQA
  TVTMPPALPAPDGGEPSLLEPGELEGLFFPEEKEEEKEKDDSPPQKWPELSHGLHLVPFIHSAAEEAEPEPELAA
  PGEDAEPQAGPSARGSPSPAAPGPPAGPLPRMDLPLAGQPLRHPTRARPRPRRQHHHRPPPGGPQVPPALPQEGN
  GLSARVDEGVEEFFSKRLIQQDRLWAPEEDPATEGGATPVPRTLRKKLGTLFAFKKPRSTRGPRTDLETSPGAAP
  RTRKTTFGDLLRPPTRPSRGEELGGAEGDTSSPDPAGRSRPRYTRDSKAYSMILLPAEEEATLGARPDKRRPLER
  GETELAPSFEQRVQVMLQRIGVSRGSGGAEGKRKQSKDGEIKKAGSDGDIMDSSTEAPPISIKSRTHSVSADPSC
  RPGPGSQGPESATWKTLGQQLNAELRSRGWGQQDGPGPPSPGQSPSPCRTSPSPDSLGLPEDPCLGPRNEDGQLR
  PRPLSAGRRAVSVHEDQLQAPAERPLRLQRSPVLKRRPKLEAPPSPSLGSGLGTEPLPPQPTEPSSPERSPPSPA
  TDQRGGGPNP

• Structural information:
  • Interpro: IPR029763  IPR031943  IPR041245  IPR001611  IPR011993  
  • STRING: ENSP00000334958
• Other Databases: GeneCards:  CARMIL2  Malacards:  CARMIL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090091	positive regulation of extracellular matrix disassembly	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0044319	wound healing, spreading of cells	IDA	biological process
GO:0044354	macropinosome	IDA	cellular component
GO:0001726	ruffle	IDA	cellular component
GO:0015629	actin cytoskeleton	IDA	cellular component
GO:0090091	positive regulation of extracellular matrix disassembly	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0044319	wound healing, spreading of cells	IDA	biological process
GO:0001726	ruffle	IDA	cellular component
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0051639	actin filament network formation	IDA	biological process
GO:1900029	positive regulation of ruffle assembly	IDA	biological process
GO:0061339	establishment or maintenance of monopolar cell polarity	IDA	biological process
GO:1902745	positive regulation of lamellipodium organization	IDA	biological process
GO:0005543	phospholipid binding	IDA	molecular function
GO:0030027	lamellipodium	IDA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0051639	actin filament network formation	IDA	biological process
GO:2000813	negative regulation of barbed-end actin filament capping	IDA	biological process
GO:1900029	positive regulation of ruffle assembly	IDA	biological process
GO:0061339	establishment or maintenance of monopolar cell polarity	IDA	biological process
GO:0010592	positive regulation of lamellipodium assembly	IDA	biological process
GO:0044877	protein-containing complex binding	IDA	molecular function
GO:0007163	establishment or maintenance of cell polarity	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0045111	intermediate filament cytoskeleton	IDA	cellular component
GO:0031252	cell leading edge	IDA	cellular component
GO:0031234	extrinsic component of cytoplasmic side of plasma membrane	NAS	cellular component
GO:0016477	cell migration	IEA	biological process
GO:0030011	maintenance of cell polarity	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0001726	ruffle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq