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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57631
Gene name	Leucine rich repeats and calponin homology domain containing 2
Gene symbol	LRCH2
Synonyms (NCBI Gene)	dA204F4.4
Chromosome	X
Chromosome location	Xq23
Summary	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 tha

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miRTarBase ID	miRNA	Experiments	Reference
MIRT018027	hsa-miR-335-5p	Microarray	18185580
MIRT027383	hsa-miR-101-3p	Sequencing	20371350
MIRT530157	hsa-miR-580-5p	PAR-CLIP	22012620
MIRT530156	hsa-miR-5587-5p	PAR-CLIP	22012620
MIRT530157	hsa-miR-580-5p	PAR-CLIP	22012620
MIRT530156	hsa-miR-5587-5p	PAR-CLIP	22012620
MIRT1117389	hsa-miR-1271	CLIP-seq
MIRT1117390	hsa-miR-182	CLIP-seq
MIRT1117391	hsa-miR-3129-3p	CLIP-seq
MIRT1117392	hsa-miR-3143	CLIP-seq
MIRT1117393	hsa-miR-3921	CLIP-seq
MIRT1117394	hsa-miR-4423-5p	CLIP-seq
MIRT1117395	hsa-miR-4653-5p	CLIP-seq
MIRT1117396	hsa-miR-4659a-5p	CLIP-seq
MIRT1117397	hsa-miR-4659b-5p	CLIP-seq
MIRT1117398	hsa-miR-4678	CLIP-seq
MIRT1117399	hsa-miR-4682	CLIP-seq
MIRT1117400	hsa-miR-4694-5p	CLIP-seq
MIRT1117401	hsa-miR-4729	CLIP-seq
MIRT1117402	hsa-miR-4775	CLIP-seq
MIRT1117403	hsa-miR-4776-3p	CLIP-seq
MIRT1117404	hsa-miR-496	CLIP-seq
MIRT1117405	hsa-miR-548ac	CLIP-seq
MIRT1117406	hsa-miR-548ae	CLIP-seq
MIRT1117407	hsa-miR-548ag	CLIP-seq
MIRT1117408	hsa-miR-548ai	CLIP-seq
MIRT1117409	hsa-miR-548aj	CLIP-seq
MIRT1117410	hsa-miR-548am	CLIP-seq
MIRT1117411	hsa-miR-548d-3p	CLIP-seq
MIRT1117412	hsa-miR-548x	CLIP-seq
MIRT1117413	hsa-miR-548z	CLIP-seq
MIRT1117414	hsa-miR-577	CLIP-seq
MIRT1117415	hsa-miR-605	CLIP-seq
MIRT1117416	hsa-miR-96	CLIP-seq
MIRT2263512	hsa-miR-101	CLIP-seq
MIRT2263513	hsa-miR-144	CLIP-seq
MIRT2263514	hsa-miR-3613-3p	CLIP-seq
MIRT2263515	hsa-miR-513a-3p	CLIP-seq
MIRT2263516	hsa-miR-582-5p	CLIP-seq
MIRT2263517	hsa-miR-664	CLIP-seq
MIRT2263518	hsa-miR-935	CLIP-seq
MIRT1117392	hsa-miR-3143	CLIP-seq
MIRT2453282	hsa-miR-124	CLIP-seq
MIRT2453283	hsa-miR-192	CLIP-seq
MIRT2453284	hsa-miR-215	CLIP-seq
MIRT2453285	hsa-miR-3714	CLIP-seq
MIRT2453286	hsa-miR-3910	CLIP-seq
MIRT2453287	hsa-miR-4470	CLIP-seq
MIRT2453288	hsa-miR-506	CLIP-seq
MIRT2453289	hsa-miR-524-3p	CLIP-seq
MIRT2453290	hsa-miR-525-3p	CLIP-seq
MIRT2562835	hsa-miR-1184	CLIP-seq
MIRT2562836	hsa-miR-1205	CLIP-seq
MIRT2562837	hsa-miR-186	CLIP-seq
MIRT2562838	hsa-miR-203	CLIP-seq
MIRT2562839	hsa-miR-3138	CLIP-seq
MIRT2562840	hsa-miR-3158-5p	CLIP-seq
MIRT2562841	hsa-miR-3194-3p	CLIP-seq
MIRT2562842	hsa-miR-3919	CLIP-seq
MIRT2562843	hsa-miR-4452	CLIP-seq
MIRT2562844	hsa-miR-4491	CLIP-seq
MIRT2562845	hsa-miR-4535	CLIP-seq
MIRT2562846	hsa-miR-4657	CLIP-seq
MIRT1117396	hsa-miR-4659a-5p	CLIP-seq
MIRT1117397	hsa-miR-4659b-5p	CLIP-seq
MIRT2562847	hsa-miR-4756-3p	CLIP-seq
MIRT2562848	hsa-miR-4800-5p	CLIP-seq
MIRT2562849	hsa-miR-492	CLIP-seq
MIRT2562839	hsa-miR-3138	CLIP-seq
MIRT2562842	hsa-miR-3919	CLIP-seq
MIRT2562844	hsa-miR-4491	CLIP-seq
MIRT2562845	hsa-miR-4535	CLIP-seq
MIRT2562846	hsa-miR-4657	CLIP-seq
MIRT1117396	hsa-miR-4659a-5p	CLIP-seq
MIRT1117397	hsa-miR-4659b-5p	CLIP-seq
MIRT2562847	hsa-miR-4756-3p	CLIP-seq
MIRT2562848	hsa-miR-4800-5p	CLIP-seq
MIRT2562849	hsa-miR-492	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24255178, 28514442, 32203420, 32296183, 33961781

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q5VUJ6

Protein name

Leucine-rich repeat and calponin homology domain-containing protein 2

Protein function

May play a role in the organization of the cytoskeleton.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13855	LRR_8	116 → 173	Leucine rich repeat	Repeat
PF13855	LRR_8	180 → 237	Leucine rich repeat	Repeat
PF13855	LRR_8	226 → 282	Leucine rich repeat	Repeat
PF00307	CH	643 → 756	Calponin homology (CH) domain	Domain

Sequence

MAASQGGGGNSGGGGCGGGGSSGGCGTAGGGGGGAGGGGGGGGGTLVVPIPVPTLFGQPF
PNGPPWNPGSLQPQHTVRSLDRALEEAGSSGILSLSGRKLRDFPGSGYDLTDTTQADLSR
NRFTEIPSDVWLFAPLETLNLYHNCIKTIPEAIKNLQMLTYLNISRNLLSTLPKYLFDLP
LKVLVVSNNKLVSIPEEIGKLKDLMELDISCNEIQVLPQQMGKLHSLRELNIRRNNLHVL
PDELGDLPLVKLDFSCNKVTEIPVCYRKLHHLQVIILDNNPLQVPPAQICLKGKVHIFKY
LNIQACCRMDKKPDSLDLPSLSKRMPSQPLTDSMEDFYPNKNHGPDSGIGSDNGEKRLST
TEPSDDDTVSLHSQVSESNREQTSRNDSHIIGSKTDSQKDQEVYDFVDPNTEDVAVPEQG
NAHIGSFVSFFKGKEKCSEKSRKNEELGDEKRLEKEQLLAEEEDDDLKEVTDLRKIAAQL
LQQEQKNRILNHSTSVMRNKPKQTVECEKSVSADEVNSPLSPLTWQPLENQKDQIDEQPW
PESHPIIWQSEERRRSKQIRKEYFKYKSMRKSSSGNENDEQDSDNANMSTQSPVSSEEYD
RTDGFSHSPFGLKPRSAFSRSSRQEYGAADPGFTMRRKMEHLREEREQIRQLRNNLESRL
KVILPDDIGAALMDGVVLCHLANHIRPRSVASIHVPSPAVPKLSMAKCRRNVENFLDACK
KLGVSQERLCLPHHILEERGLVKVGVTVQALLELPTTKASQLSVA

Sequence length

765

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebellar ataxia	Pathogenic	rs2147404569	RCV002051959	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Demyelinating peripheral neuropathy	Pathogenic	rs2147404569	RCV002051959	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

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.
KLEINE-LEVIN SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Ataxia	Associate	35351988	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Associate	35351988	★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Associate	35351988	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Associate	35725478	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rotator Cuff Injuries	Associate	35725478	★★★★★ ★☆☆☆☆ Found in Text Mining only

LRCH2 (leucine rich repeats and calponin homology domain containing 2)