Seroatlas · Human Serome Atlas

CARMIL2

Capping protein, Arp2/3 and myosin-I linker protein 2

Also known as: CARL2_HUMAN, LRRC16C, RLTPR

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q6F5E8
Gene: CARMIL2
Ensembl: ENSG00000159753
Chromosome: 16
Canonical length: 1435 aa
Protein class: Disease related genes, Predicted intracellular proteins
Quaternary structure: Homodimer

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

1435 residues, UniProt reviewed canonical sequence.

>Q6F5E8|CARMIL2
     1  MAQTPDGISC ELRGEITRFL WPKEVELLLK TWLPGEGAVQ NHVLALLRWR AYLLHTTCLP
    61  LRVDCTFSYL EVQAMALQET PPQVTFELES LRELVLEFPG VAALEQLAQH VAAAIKKVFP
   121  RSTLGKLFRR PTPASMLARL ERSSPSESTD PCSPCGGFLE TYEALCDYNG FPFREEIQWD
   181  VDTIYHRQGC RHFSLGDFSH LGSRDLALSV AALSYNLWFR CLSCVDMKLS LEVSEQILHM
   241  MSQSSHLEEL VLETCSLRGD FVRRLAQALA GHSSSGLREL SLAGNLLDDR GMTALSRHLE
   301  RCPGALRRLS LAQTGLTPRG MRALGRALAT NAAFDSTLTH LDLSGNPGAL GASEDSGGLY
   361  SFLSRPNVLS FLNLAGTDTA LDTVRGCSVG GWMTGRADWR AGRGGLGPPA GVANSLPPQL
   421  FAAVSRGCCT SLTHLDASRN VFSRTKSRAA PAALQLFLSR ARTLRHLGLA GCKLPPDALR
   481  ALLDGLALNT HLRDLHLDLS ACELRSAGAQ VIQDLVCDAG AVSSLDLADN GFGSDMVTLV
   541  LAIGRSRSLR HVALGRNFNV RCKETLDDVL HRIVQLMQDD DCPLQSLSVA ESRLKLGASV
   601  LLRALATNPN LTALDISGNA MGDAGAKLLA KALRVNSRLR SVVWDRNHTS ALGLLDVAQA
   661  LEQNHSLKAM PLPLNDVAQA QRSRPELTAR AVHQIQACLL RNNRADPASS DHTTRLQPLG
   721  LVSDPSEQEV NELCQSVQEH VELLGCGAGP QGEAAVRQAE DAIQNANFSL SILPILYEAG
   781  SSPSHHWQLG QKLEGLLRQV GEVCRQDIQD FTQATLDTAR SLCPQMLQGS SWREQLEGVL
   841  AGSRGLPELL PEQLLQDAFT RLRDMRLSIT GTLAESIVAQ ALAGLSAARD QLVESLAQQA
   901  TVTMPPALPA PDGGEPSLLE PGELEGLFFP EEKEEEKEKD DSPPQKWPEL SHGLHLVPFI
   961  HSAAEEAEPE PELAAPGEDA EPQAGPSARG SPSPAAPGPP AGPLPRMDLP LAGQPLRHPT
  1021  RARPRPRRQH HHRPPPGGPQ VPPALPQEGN GLSARVDEGV EEFFSKRLIQ QDRLWAPEED
  1081  PATEGGATPV PRTLRKKLGT LFAFKKPRST RGPRTDLETS PGAAPRTRKT TFGDLLRPPT
  1141  RPSRGEELGG AEGDTSSPDP AGRSRPRYTR DSKAYSMILL PAEEEATLGA RPDKRRPLER
  1201  GETELAPSFE QRVQVMLQRI GVSRGSGGAE GKRKQSKDGE IKKAGSDGDI MDSSTEAPPI
  1261  SIKSRTHSVS ADPSCRPGPG SQGPESATWK TLGQQLNAEL RSRGWGQQDG PGPPSPGQSP
  1321  SPCRTSPSPD SLGLPEDPCL GPRNEDGQLR PRPLSAGRRA VSVHEDQLQA PAERPLRLQR
  1381  SPVLKRRPKL EAPPSPSLGS GLGTEPLPPQ PTEPSSPERS PPSPATDQRG GGPNP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CARMIL2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 22 nTPM

Expression across tissuesHPA

Tissue

lymph node: 22 nTPM
thymus: 20 nTPM
spleen: 20 nTPM
hippocampal formation: 15 nTPM
small intestine: 13 nTPM
appendix: 12 nTPM

Single-cell type

brain excitatory neurons: 27 nCPM
retinal horizontal cells: 22 nCPM
other brain neurons: 21 nCPM
brain inhibitory neurons: 21 nCPM
somatotrophs: 12 nCPM
b-cells: 11 nCPM

Immune cell

naive B-cell: 1.3 nTPM
MAIT T-cell: 1.2 nTPM
plasmacytoid DC: 1.1 nTPM
T-reg: 1.1 nTPM
NK-cell: 1 nTPM
memory CD4 T-cell: 0.9 nTPM

Brain region

cerebral cortex: 92 nTPM
hippocampal formation: 78 nTPM
white matter: 52 nTPM
basal ganglia: 38 nTPM
pons: 37 nTPM
amygdala: 35 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CARMIL2.

Disease | AllUniProt

Conditions CARMIL2 is implicated in, by any mechanism.

Immunodeficiency 58 (IMD58) MIM:618131

Disease | GeneticClinVar

81 pathogenic / likely-pathogenic of 1,242 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Severe combined immunodeficiency due to CARMIL2 deficiency
Combined immunodeficiency
CARMIL2-related disorder
Chronic colitis
Autosomal recessive congenital ichthyosis

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.55
gnomAD pLI: 0
DepMap mean gene effect: -0.05
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of CARMIL2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

CAPZB

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads CARMIL2 as an antibody target. Whether an autoantibody or antibody against CARMIL2 could matter depends on whether native CARMIL2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

CARMIL2 is annotated at the cell surface, where native CARMIL2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label CARMIL2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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