CRYM - crystallin mu Gene

Also Known as THBP; DFNA40

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1428

About CRYM

Cytogenetic location: 16p12.2 Genomic coordinates (GRCh38): 16:21,258,521-21,303,062 (from NCBI)

This gene has 10 transcripts (splice variants), 201 orthologues and is associated with 2 phenotypes. Biased expression in heart (RPKM 46.6), brain (RPKM 32.2) and 9 other tissues.

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 refractive index of the lens. This gene encodes a taxon-specific crystallin protein that binds NADPH and has sequence similarity to Bacterial ornithine cyclodeaminases. The encoded protein does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic deafness. [provided by RefSeq, Sep 2014]

CRYM Products (2)

mRNA	Protein	Name
NM_001376256.1	NP_001363185.1	ketimine reductase mu-crystallin
NM_001888.5	NP_001879.1	ketimine reductase mu-crystallin

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables NADP binding	IDA IDA: Inferred from direct assay	17242435	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21044950	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	12590647	GOA
enables thiomorpholine-carboxylate dehydrogenase activity	IDA IDA: Inferred from direct assay	21332720	GOA
enables thyroid hormone binding	IDA IDA: Inferred from direct assay	9328354	GOA
enables thyroid hormone binding	IMP IMP: Inferred from mutant phenotype	16740909	GOA
enables transcription corepressor activity	IMP IMP: Inferred from mutant phenotype	11897713	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	11897713	GOA
involved in sensory perception of sound	IMP IMP: Inferred from mutant phenotype	12471561	GOA
involved in thyroid hormone transport	IMP IMP: Inferred from mutant phenotype	11897713	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	12471561	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYM Protein Structure

OCD_Mu_crystall

0
100
200
300
314 a.a.

Protein Preferred Names	Protein Names
ketimine reductase mu-crystallin	NADP-regulated thyroid-hormone binding protein

CRYM Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	CRYM	Q14894	TERF1	Homo sapiens	P54274	BiFC	21044950
Intra	CRYM	Q14894	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	CRYM	Q14894	OPTN	Homo sapiens	Q96CV9	Validated Y2H	32814053
Intra	CRYM	Q14894	OPTN	Homo sapiens	Q96CV9	Y2H Pooling	32814053
Intra	CRYM	Q14894	OPTN	Homo sapiens	Q96CV9	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Deafness, Autosomal Dominant 40	DFNA40 Autosomal Dominant Nonsyndromic Deafness 40 Autosomal Dominant Deafness 40 Deafness, Autosomal Dominant, 40 Deafness, Autosomal Dominant, Type 40
Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna	Autosomal Dominant Isolated Neurosensory Deafness Type Dfna Autosomal Dominant Isolated Neurosensory Hearing Loss Type Dfna Autosomal Dominant Isolated Sensorineural Deafness Type Dfna Autosomal Dominant Isolated Sensorineural Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Deafness Type Dfna Autosomal Dominant Non-Syndromic Neurosensory Hearing Loss Type Dfna Autosomal Dominant Non-Syndromic Sensorineural Hearing Loss Type Dfna
Deafness, Autosomal Recessive 91	DFNB91 Autosomal Recessive Nonsyndromic Deafness 91 Autosomal Recessive Deafness 91 Deafness, Autosomal Recessive, 91 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91 Deafness, Autosomal Recessive, Type 91
Deafness, Autosomal Recessive 89	DFNB89 Autosomal Recessive Nonsyndromic Deafness 89 Autosomal Recessive Deafness 89 Deafness, Autosomal Recessive, 89 Deafness, Autosomal Recessive, Type 89
Deafness, Autosomal Dominant 3a	DFNA3A Autosomal Dominant Nonsyndromic Deafness 3a Autosomal Dominant Deafness 3a Deafness, Autosomal Dominant, 3a Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 3a Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 3a Deafness, Autosomal Dominant, Type 3a
Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy Fshd Landouzy-Dejerine Muscular Dystrophy Muscular Dystrophy, Facioscapulohumeral FSHD1 Fshd1a Muscular Dystrophy, Facioscapulohumeral, Type 1a Facioscapulohumeral Muscular Dystrophy Type 1a Fsh Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy 1a Facioscapulohumeral Atrophy Facioscapulohumeral Myopathy Muscular Dystrophy, Facioscapulohumeral, Type 1 Facioscapulohumeral Muscular Dystrophy Type 1 Landouzy Dejerine Muscular Dystrophy Muscular Dystrophy, Landouzy-Dejerine Fshmd1a Facio-Scapulo-Humeral Dystrophy Facioscapulohumeral Type Progressive Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy Facioscapulohumeral Dystrophy Fsh Dystrophy Landouzy-Dejerine Dystrophy Landouzy-Dejerine Myopathy Fmd Facioscapulohumeral Muscular Dystrophy-1a Muscular Dystrophy Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral Dystrophy, Muscular, Facioscapulohumeral, Type 1 Landouzy-Dejerine Disease Landouzy-Déjerine Atrophy Facioscapulohumeral Muscle Dystrophy Fmd - [Facioscapulohumeral Muscular Dystrophy] Fsh - [Facioscapulohumeral Muscular Dystrophy] Fshd - [Facioscapulohumeral Muscular Dystrophy] Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy Landouzy-Déjérine Muscular Dystrophy
Deafness, Autosomal Recessive 1a	DFNB1A Deafness, Digenic, Gjb2/Gjb3 Autosomal Recessive Nonsyndromic Deafness 1a Deafness, Digenic, Gjb2/Gjb6 Deafness, Digenic Gjb2/Gjb6 Autosomal Recessive Deafness 1a Deafness, Autosomal Recessive, 1a Deafness Digenic Gjb2/Gjb3 Deafness Digenic Gjb2/Gjb6 Deafness Neurosensory Autosomal Recessive 1 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 1 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 1 Nsrd1 Deafness, Autosomal Recessive, Type 1a
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Muscular Dystrophy	Muscular Dystrophies Congenital Md Congenital Muscular Dystrophy Cmd Mdc Dystrophy, Muscular Gower'S Muscular Dystrophy Progressive Musclular Dystrophy Pseudohypertrophic Atrophy Pseudohypertrophic Muscle Paralysis Pseudohypertrophic Muscular Atrophy Pseudohypertrophic Muscular Dystrophy Pseudohypertrophic Paralysis Pseudomuscular Hypertrophy
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03218	CRYM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CRYM	VGNC	VGNC:71508
Mus musculus	CRYM	MGD	MGI:102675
Felis catus	CRYM	VGNC	VGNC:61209
Bos taurus	CRYM	VGNC	VGNC:27745
Canis familiaris	CRYM	VGNC	VGNC:39648
Rattus norvegicus	CRYM	RGD	RGD:620943
Others	CRYM	NCBI