CHODL (chondrolectin)

Gene

• Entrez ID: 140578
• Gene name: Chondrolectin
• Gene symbol: CHODL
• Synonyms (NCBI Gene): C21orf68, MT75, PRED12
• Chromosome: 21
• Chromosome location: 21q21.1
• Summary: This gene encodes a type I membrane protein with a carbohydrate recognition domain characteristic of C-type lectins in its extracellular portion. In other proteins, this domain is involved in endocytosis of glycoproteins and exogenous sugar-bearing pathog

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT890958	hsa-miR-1224-5p	CLIP-seq
MIRT890959	hsa-miR-1257	CLIP-seq
MIRT890960	hsa-miR-1304	CLIP-seq
MIRT890961	hsa-miR-3150b-3p	CLIP-seq
MIRT890962	hsa-miR-3662	CLIP-seq
MIRT890963	hsa-miR-3915	CLIP-seq
MIRT890964	hsa-miR-4452	CLIP-seq
MIRT890965	hsa-miR-4689	CLIP-seq
MIRT890966	hsa-miR-4784	CLIP-seq
MIRT890967	hsa-miR-549	CLIP-seq
MIRT890968	hsa-miR-3622a-3p	CLIP-seq
MIRT890969	hsa-miR-3622b-3p	CLIP-seq
MIRT890970	hsa-miR-3663-5p	CLIP-seq
MIRT2200300	hsa-miR-31	CLIP-seq
MIRT2200301	hsa-miR-4727-3p	CLIP-seq
MIRT2503164	hsa-miR-3185	CLIP-seq
MIRT2503165	hsa-miR-4709-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005540	Function	Hyaluronic acid binding	IDA	12079284
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22042635
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IDA
GO:0007399	Process	Nervous system development	IEA
GO:0007517	Process	Muscle organ development	NAS	12079284
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12079284
GO:0050772	Process	Positive regulation of axonogenesis	IBA

Other IDs

• MIM: 607247
• HGNC: 17807
• e!Ensembl: ENSG00000154645

Protein

• UniProt ID: Q9H9P2
• Protein name: Chondrolectin (Transmembrane protein MT75)
• Protein function: May play a role in the development of the nervous system such as in neurite outgrowth and elongation. May be involved in motor axon growth and guidance.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00059	Lectin_C	50 → 180	Lectin C-type domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in spleen, testis, prostate and fetal liver. Expression limited to vascular muscle of testis, smooth muscle of prostate stroma, heart muscle, skeletal muscle, crypts of small intestine, and red pulp of spleen. B lymphocytes expre
• Sequence:

  MSRVVSLLLGAALLCGHGAFCRRVVSGQKVCFADFKHPCYKMAYFHELSSRVSFQEARLA
  CESEGGVLLSLENEAEQKLIESMLQNLTKPGTGISDGDFWIGLWRNGDGQTSGACPDLYQ
  WSDGSNSQYRNWYTDEPSCGSEKCVVMYHQPTANPGLGGPYLYQWNDDRCNMKHNYICKY
  EPEINPTAPVEKPYLTNQPGDTHQNVVVTEAGIIPNLIYVVIPTIPLLLLILVAFGTCCF
  QMLHKSKGRTKTSPNQSTLWISKSTRKESGMEV

• Sequence length: 273

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BULIMIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTANEOUS MELANOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATIC HEART DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Alzheimer Disease	Associate	33188687	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	36581816	★☆☆☆☆ Found in Text Mining only