LRCH2

Protein identityUniProt · HPA

UniProt accession

Q5VUJ6

Gene

LRCH2

Ensembl

ENSG00000130224

Chromosome

X

Canonical length

765 aa

Protein class

Predicted intracellular proteins

Subcellular location

Plasma membrane

OverviewNCBI Gene

This gene encodes a member of the leucine-rich repeat and calponin homology domain-containing protein family. These family members contain multiple N-terminal leucine-rich repeats, in addition to a C-terminal calponin homology domain, a type of domain that mediates interactions with actin filaments. These proteins are conserved across animal species, and studies of a similar Drosophila protein indicate a function as a cytoskeletal scaffolding protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]

Canonical amino-acid sequenceUniProt

765 residues, UniProt reviewed canonical sequence.

>Q5VUJ6|LRCH2
     1  MAASQGGGGN SGGGGCGGGG SSGGCGTAGG GGGGAGGGGG GGGGTLVVPI PVPTLFGQPF
    61  PNGPPWNPGS LQPQHTVRSL DRALEEAGSS GILSLSGRKL RDFPGSGYDL TDTTQADLSR
   121  NRFTEIPSDV WLFAPLETLN LYHNCIKTIP EAIKNLQMLT YLNISRNLLS TLPKYLFDLP
   181  LKVLVVSNNK LVSIPEEIGK LKDLMELDIS CNEIQVLPQQ MGKLHSLREL NIRRNNLHVL
   241  PDELGDLPLV KLDFSCNKVT EIPVCYRKLH HLQVIILDNN PLQVPPAQIC LKGKVHIFKY
   301  LNIQACCRMD KKPDSLDLPS LSKRMPSQPL TDSMEDFYPN KNHGPDSGIG SDNGEKRLST
   361  TEPSDDDTVS LHSQVSESNR EQTSRNDSHI IGSKTDSQKD QEVYDFVDPN TEDVAVPEQG
   421  NAHIGSFVSF FKGKEKCSEK SRKNEELGDE KRLEKEQLLA EEEDDDLKEV TDLRKIAAQL
   481  LQQEQKNRIL NHSTSVMRNK PKQTVECEKS VSADEVNSPL SPLTWQPLEN QKDQIDEQPW
   541  PESHPIIWQS EERRRSKQIR KEYFKYKSMR KSSSGNENDE QDSDNANMST QSPVSSEEYD
   601  RTDGFSHSPF GLKPRSAFSR SSRQEYGAAD PGFTMRRKME HLREEREQIR QLRNNLESRL
   661  KVILPDDIGA ALMDGVVLCH LANHIRPRSV ASIHVPSPAV PKLSMAKCRR NVENFLDACK
   721  KLGVSQERLC LPHHILEERG LVKVGVTVQA LLELPTTKAS QLSVA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LRCH2 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

Unknown

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.49

Highest tissue expression

7.8 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LRCH2.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 145 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Demyelinating peripheral neuropathy
• Cerebellar ataxia

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)

0.24

gnomAD pLI

1

gnomAD missense Z

1.94

DepMap mean gene effect

0

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

Protein domainsUniProt · Pfam · InterPro

• Leucine-rich repeat
• Calponin homology domain
• Leucine-rich repeat, typical subtype
• Leucine-rich repeat domain superfamily
• CH domain superfamily
• Leucine-rich repeat domain-containing protein
• Calponin homology (CH) domain
• Leucine rich repeat

KeywordsUniProt

• Coiled coil
• Leucine-rich repeat
• Repeat

InteractionsUniProt · HPA

Protein binding partners of LRCH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• DOCK7
• DOCK8