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CARMIL2 capping protein regulator and myosin 1 linker 2 [ Homo sapiens (human) ]

Gene ID: 146206, updated on 22-Jun-2019

Summary

Official Symbol
CARMIL2provided by HGNC
Official Full Name
capping protein regulator and myosin 1 linker 2provided by HGNC
Primary source
HGNC:HGNC:27089
See related
Ensembl:ENSG00000159753 MIM:610859
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
IMD58; RLTPR; LRRC16C; CARMIL2b
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 gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]
Expression
Biased expression in lymph node (RPKM 12.2), spleen (RPKM 8.2) and 10 other tissues See more
Orthologs

Genomic context

See CARMIL2 in Genome Data Viewer
Location:
16q22.1
Exon count:
39
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (67645004..67657569)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (67679030..67691472)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984813 Neighboring gene CCCTC-binding factor Neighboring gene par-6 family cell polarity regulator alpha Neighboring gene ACD shelterin complex subunit and telomerase recruitment factor Neighboring gene chromosome 16 open reading frame 86 Neighboring gene enkurin domain containing 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Vif vif HIV Vif interacts with CARMIL2 (RLTPR) PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex binding IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
actin cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
cell leading edge IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
extrinsic component of cytoplasmic side of plasma membrane NAS
Non-traceable Author Statement
more info
PubMed 
intermediate filament cytoskeleton IDA
Inferred from Direct Assay
more info
PubMed 
lamellipodium IDA
Inferred from Direct Assay
more info
PubMed 
macropinosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
ruffle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
capping protein, Arp2/3 and myosin-I linker protein 2
Names
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 repeat containing 16C
leucine-rich repeat-containing protein 16C

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054728.1 RefSeqGene

    Range
    5022..17651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001013838.3NP_001013860.1  capping protein, Arp2/3 and myosin-I linker protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001013860.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) retains an intron in the 5' coding region and contains an alternate in-frame exon in the 3' coding region compared to variant 2. The encoded isoform (1, also known as CARMIL2a) has the same N- and C-termini but is longer compared to isoform 2.
    Source sequence(s)
    AB113647
    Consensus CDS
    CCDS45513.1
    UniProtKB/Swiss-Prot
    Q6F5E8
    Related
    ENSP00000334958.5, ENST00000334583.11
    Conserved Domains (3) summary
    cd00116
    Location:277644
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00034
    Location:222246
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:8191109
    CARMIL_C; CARMIL C-terminus
  2. NM_001317026.3NP_001303955.1  capping protein, Arp2/3 and myosin-I linker protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter isoform (2, also known as CARMIL2b).
    Source sequence(s)
    AB113647, FJ026014
    Consensus CDS
    CCDS81998.1
    UniProtKB/Swiss-Prot
    Q6F5E8
    Related
    ENSP00000441481.1, ENST00000545661.5
    Conserved Domains (4) summary
    cd00116
    Location:277608
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:513539
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:222246
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:7831073
    CARMIL_C; CARMIL C-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    67645004..67657569
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011522875.2XP_011521177.2  capping protein, Arp2/3 and myosin-I linker protein 2 isoform X1

  2. XM_017022953.1XP_016878442.1  capping protein, Arp2/3 and myosin-I linker protein 2 isoform X2

  3. XM_011522874.1XP_011521176.1  capping protein, Arp2/3 and myosin-I linker protein 2 isoform X3

    Conserved Domains (4) summary
    cd00116
    Location:282613
    LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...
    sd00033
    Location:491517
    LRR_RI; leucine-rich repeat [structural motif]
    sd00034
    Location:252280
    LRR_AMN1; leucine-rich repeat [structural motif]
    pfam16000
    Location:7881078
    CARMIL_C; CARMIL C-terminus

RNA

  1. XR_001751843.1 RNA Sequence

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