Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
rs1567626023	G>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1567628294	G>A	Likely-pathogenic	Splice donor variant
rs1567628757	T>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1567629943	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1567629968	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1567632829	CTCCCGGAGCTGC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1567632864	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained

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
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26578515
GO:0005886	Component	Plasma membrane	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IDA	19846667
GO:0010592	Process	Positive regulation of lamellipodium assembly	IDA	26466680
GO:0015629	Component	Actin cytoskeleton	IDA	26578515
GO:0015629	Component	Actin cytoskeleton	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030027	Component	Lamellipodium	IBA
GO:0030027	Component	Lamellipodium	IDA	26578515
GO:0030027	Component	Lamellipodium	IEA
GO:0030335	Process	Positive regulation of cell migration	IDA	19846667, 26466680, 26578515
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	NAS	26578515
GO:0031252	Component	Cell leading edge	IDA	26466680
GO:0034315	Process	Regulation of Arp2/3 complex-mediated actin nucleation	IBA
GO:0042995	Component	Cell projection	IEA
GO:0044319	Process	Wound healing, spreading of cells	IDA	26466680, 26578515
GO:0044354	Component	Macropinosome	IDA	26578515
GO:0044877	Function	Protein-containing complex binding	IDA	26466680
GO:0045111	Component	Intermediate filament cytoskeleton	IDA	19846667, 26466680, 26578515
GO:0051639	Process	Actin filament network formation	IDA	26466680, 26578515
GO:0061339	Process	Establishment or maintenance of monopolar cell polarity	IDA	26466680, 26578515
GO:0090091	Process	Positive regulation of extracellular matrix disassembly	IDA	26466680, 26578515
GO:1900029	Process	Positive regulation of ruffle assembly	IDA	26466680, 26578515
GO:1902745	Process	Positive regulation of lamellipodium organization	IDA	26578515
GO:2000813	Process	Negative regulation of barbed-end actin filament capping	IDA	26466680

MIM	HGNC	e!Ensembl
610859	27089	ENSG00000159753

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

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CARMIL2-related disorder	Likely pathogenic; Pathogenic	rs2543550264, rs1234367830, rs2543547067	RCV003399566 RCV003402115 RCV003393209	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic colitis	Likely pathogenic; Pathogenic	rs1567629968	RCV000681615	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency	Pathogenic; Likely pathogenic	rs886041043, rs886041044, rs1567629968	RCV000258850 RCV000258853 RCV000681615	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (10 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED IMMUNODEFICIENCY DUE TO CARMIL2 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF PHARYNX	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-INDUCED LYMPHOPROLIFERATIVE DISEASE DUE TO CARMIL2 DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 58	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSILLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (33)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic colitis	Colitis	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32586834	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	28112205		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	29479355		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Combined immunodeficiency	Severe combined immunodeficiency disease	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	29479355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	Pubtator	29479355, 34287962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	34287962	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	31079270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity	Hypersensitivity	Pubtator	27647349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 58	Immunodeficiency	CLINVAR_DG	27647349, 27896283, 29479355		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 58	Immunodeficiency	UNIPROT_DG	27647349, 27896283, 28112205, 29479355		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 58	Immunodeficiency	ORPHANET_DG	27896283, 29226302		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	31079270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31115454		★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	31115454, 32201938, 33723309, 34287962, 36515678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	28694326		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development Group II	Cortical development malformation	Pubtator	28112205	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy Myosin Storage	Myosin storage myopathy	Pubtator	32201938	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	28112205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent aphthous ulcer	Aphthous Ulcer	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe combined immunodeficiency due to CARMIL2 deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

CARMIL2 (capping protein regulator and myosin 1 linker 2)