CRYM (crystallin mu)

Gene

• Entrez ID: 1428
• Gene name: Crystallin mu
• Gene symbol: CRYM
• Synonyms (NCBI Gene): DFNA40, THBP
• Chromosome: 16
• Chromosome location: 16p12.2
• Summary: Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and r

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894509	T>A	Pathogenic	Terminator codon variant, stop lost
rs104894512	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs147233841	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs386789728	TC>AA	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	11897713
GO:0003714	Function	Transcription corepressor activity	IMP	11897713
GO:0005515	Function	Protein binding	IPI	21044950, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12471561, 12590647
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006554	Process	Lysine catabolic process	TAS
GO:0007605	Process	Sensory perception of sound	IMP	12471561
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0042403	Process	Thyroid hormone metabolic process	IBA
GO:0042403	Process	Thyroid hormone metabolic process	IEA
GO:0042562	Function	Hormone binding	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	12590647
GO:0047125	Function	Delta1-piperideine-2-carboxylate reductase activity	IDA	25931162
GO:0047125	Function	Delta1-piperideine-2-carboxylate reductase activity	IEA
GO:0047127	Function	Thiomorpholine-carboxylate dehydrogenase activity	IDA	21332720
GO:0047127	Function	Thiomorpholine-carboxylate dehydrogenase activity	IEA
GO:0047127	Function	Thiomorpholine-carboxylate dehydrogenase activity	TAS
GO:0050661	Function	NADP binding	IDA	17242435
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070324	Function	Thyroid hormone binding	IBA
GO:0070324	Function	Thyroid hormone binding	IDA	9328354
GO:0070324	Function	Thyroid hormone binding	IMP	16740909
GO:0070327	Process	Thyroid hormone transport	IMP	11897713

Other IDs

• MIM: 123740
• HGNC: 2418
• e!Ensembl: ENSG00000103316

Protein

• UniProt ID: Q14894
• Protein name: Ketimine reductase mu-crystallin (EC 1.5.1.25) (1-piperideine-2-carboxylate/1-pyrroline-2-carboxylate reductase) (P2C/Pyr2C reductase) (EC 1.5.1.1) (NADP-regulated thyroid-hormone-binding protein)
• Protein function: Catalyzes the NAD(P)H-dependent reduction of imine double bonds of a number of cyclic ketimine substrates, including sulfur-containing cyclic ketimines (PubMed:21332720, PubMed:25931162). Under physiological conditions, it efficiently catalyzes
• PDB: 2I99
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02423	OCD_Mu_crystall	3 → 314	Ornithine cyclodeaminase/mu-crystallin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in neural tissues, muscle and kidney (PubMed:1384048). Expressed in the inner ear (PubMed:12471561). {ECO:0000269|PubMed:12471561, ECO:0000269|PubMed:1384048}.
• Sequence:

  MSRVPAFLSAAEVEEHLRSSSLLIPPLETALANFSSGPEGGVMQPVRTVVPVTKHRGYLG
  VMPAYSAAEDALTTKLVTFYEDRGITSVVPSHQATVLLFEPSNGTLLAVMDGNVITAKRT
  AAVSAIATKFLKPPSSEVLCILGAGVQAYSHYEIFTEQFSFKEVRIWNRTKENAEKFADT
  VQGEVRVCSSVQEAVAGADVIITVTLATEPILFGEWVKPGAHINAVGASRPDWRELDDEL
  MKEAVLYVDSQEAALKESGDVLLSGAEIFAELGEVIKGVKPAHCEKTTVFKSLGMAVEDT
  VAAKLIYDSWSSGK

• Sequence length: 314

Pathways

Reactome:

Lysine catabolism

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
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant nonsyndromic hearing loss 40	Uncertain significance; Benign; Conflicting classifications of pathogenicity; no classifications from unflagged records	ClinVar ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRYM-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 40	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	34668150	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21220648		★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	30663491	Associate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	19007775		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 40	Deafness	UNIPROT_DG	12471561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 40	Deafness	CLINGEN_DG	12471561, 16740909, 17264173, 18448257, 24676347, 26915689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 40	Deafness	GENOMICS_ENGLAND_DG	9328354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 40	Deafness	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 40	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	BEFREE	28944914		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19353593		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	19809486	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	LHGDN	17451686		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11888886		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	12471561		★☆☆☆☆ Found in Text Mining only
Pelvic Organ Prolapse	Pelvic Organ Prolapse	GWASCAT_DG	26545240		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33034050	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19110265, 19165527		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	28944914	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	29923329	Associate	★☆☆☆☆ Found in Text Mining only