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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CRYM Gene

protein-coding GIFtS: 56
GCID: GC16M021269

crystallin, mu

Explore 21 diseases affiliated with
CRYM via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Crystallin, Mu¹ ²		NADP-Regulated Thyroid-Hormone Binding Protein²
DFNA40¹ ² ⁵		Thiomorpholine-Carboxylate Dehydrogenase²
Mu-Crystallin Homolog² ³		EC 1.5.1.25³
THBP² ³		NADP-Regulated Thyroid-Hormone-Binding Protein³
Ketimine Reductase² ³

External Ids:	HGNC: 2418¹	Entrez Gene: 1428²	Ensembl: ENSG00000103316⁷	OMIM: 123740⁵	UniProtKB: Q14894³

Export aliases for CRYM gene to outside databases

Previous GC identifers: GC16M020678 GC16M021278 GC16M021236 GC16M021177 GC16M019805

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CRYM:

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.

Multiple alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: CRYM_HUMAN, Q14894

Function: Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine

ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor.

Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its

nuclear receptors

Gene Wiki entry for CRYM

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000016.9 NC_018927.1 NT_010393.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CRYM gene promoter:
GATA-3 HNF-4alpha2 XBP-1 Nkx2-5 Ik-3 C/EBPalpha GATA-1 GATA-2 AREB6 MRF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CRYM promoter sequence

Search SABiosciences Chromatin IP Primers for CRYM

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYM

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.2 Ensembl cytogenetic band: 16p12.2 HGNC cytogenetic band: 16p12.2

CRYM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYM gene location

GeneLoc information about chromosome 16 GeneLoc Exon Structure

GeneLoc location for GC16M021269: view genomic region (about GC identifiers)

Start:	21,250,195 bp from pter	End:	21,314,404 bp from pter
Size:	64,210 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CRYM_HUMAN, Q14894 (See protein sequence)

Recommended Name: Thiomorpholine-carboxylate dehydrogenase

Size: 314 amino acids; 33776 Da

Cofactor: NAD or NADP

Subunit: Homodimer

Subcellular location: Cytoplasm

1 PDB 3D structure from and Proteopedia for CRYM:

2I99 (3D)

Secondary accessions: D5MNX0 Q5HYB7

Explore the universe of human proteins at neXtProt for CRYM: NX_Q14894

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q14894

CRYM Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001014444.1 NP_001879.1

ENSEMBL proteins:

ENSP00000459982 ENSP00000460820 ENSP00000219599 ENSP00000460126 ENSP00000461904

ENSP00000460510 ENSP00000440227 ENSP00000379341 ENSP00000390928

Human Recombinant Protein Products for CRYM:

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	Novus Biologicals CRYM Proteins Novus Biologicals CRYM Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--
GO:0005886	plasma membrane	IDA	--

CRYM for ontologies About GeneDecksing

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	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CRYM for domains About GeneDecksing

3 InterPro domains/families:

IPR003462 ODC_Mu_crystall

IPR023401 ODC_N

IPR016040 NAD(P)-bd_dom

Graphical View of Domain Structure for InterPro Entry Q14894

ProtoNet protein and cluster: Q14894

1 Blocks protein family: IPB003462 Ornithine cyclodeaminase/mu-crystallin

UniProtKB/Swiss-Prot: CRYM_HUMAN, Q14894

Similarity: Belongs to the ornithine cyclodeaminase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CRYM_HUMAN, Q14894

Function: Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine

ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor.

Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to its

nuclear receptors

Catalytic activity: Thiomorpholine 3-carboxylate + NAD(P)(+) = 3,4-dehydro-thiomorpholine-3-carboxylate + NAD(P)H

Biophysicochemical properties: pH dependence: Optimum pH is 4.5;

Genatlas biochemistry entry for CRYM:

crystallin,mu polypeptide

Enzyme Number (IUBMB): EC 1.5.1.25¹

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003714	transcription corepressor activity	IMP	11897713
GO:0042562	hormone binding	--	--
GO:0042803	protein homodimerization activity	IDA	12590647
GO:0047127	thiomorpholine-carboxylate dehydrogenase activity	IEA	--

CRYM for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for CRYM:

Increased G1 DNA content

Synthetic lethal with Ras

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Crym):

cardiovascular system

endocrine/exocrine gland

growth/size

hearing/vestibular/ear

homeostasis/metabolism

CRYM for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Crym^tm1Sasu for CRYM

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CRYM

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CRYM Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYM
		1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYM:
		hsa-miR-205*
		SwitchGear 3'UTR luciferase reporter plasmid: CRYM 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Customized stable knockdown cell line services for CRYM Sirion Biotech Customized inducible knockdown cell line services for CRYM Sirion Biotech Customized stable overexpressing cell line services for CRYM Sirion Biotech Customized inducible overexpressing cell line services for CRYM

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYM

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CRYM

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

4 Interacting proteins for CRYM (Q14894^{2, 3} ENSP00000219599⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
C7orf25	Q9BPX7²^,³	MINT-8249986 I2D: score=2
CDC37	Q16543²^,³	MINT-8250833 I2D: score=2
DLG4	P78352³	I2D: score=1
TERF1	ENSP00000276603⁴	STRING: ENSP00000276603

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	IMP	11897713
GO:0007605	sensory perception of sound	IMP	12471561
GO:0042403	thyroid hormone metabolic process	IEA	--
GO:0070327	thyroid hormone transport	IMP	11897713

CRYM for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CRYM for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CRYM
8 Novoseek chemical compound relationships for CRYM gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tetrahydrobiopterin	71.4	31	20018174 (11), 15489553 (5), 9328354 (3), 12160330 (2) (see all 5)
ornithine	68.3	8	15516582 (2), 15518536 (1), 17242435 (1), 17692531 (1) (see all 7)
nadph	45.9	2	17242435 (1), 9285773 (1)
triiodothyronine	34.6	1	17289043 (1)
thyroxine	26.1	4	15489553 (2), 17289043 (1)
alanine	21.7	3	15516582 (1), 17242435 (1), 18214971 (1)
potassium	5.26	2	16740909 (1)
atp	0	1	17233837 (1)

Search CenterWatch for drugs/clinical trials and news about CRYM

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CRYM gene (2 alternative transcripts):

NM_001014444.2 NM_001888.3

Unigene Cluster for CRYM:

Crystallin, mu

Hs.924 [show with all ESTs]

Unigene Representative Sequence: BX648477

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000574448(uc010bwq.1) ENST00000570401 ENST00000219599(uc002dim.3 uc002dil.3)

ENST00000572113 ENST00000576703 ENST00000571666 ENST00000572914 ENST00000571358

ENST00000574787 ENST00000543948 ENST00000396023 ENST00000415987

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CRYM Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYM
		1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYM:
		hsa-miR-205*
		SwitchGear 3'UTR luciferase reporter plasmid: CRYM 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CRYM (see all 7) OriGene shRNA RFP: CRYM OriGene siRNA: CRYM
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		Sirion Biotech Custom design and validation of potent shRNA sequences against CRYM

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CRYM (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CRYM (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CRYM
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Additional cDNA sequence:

AK290852.1 AK310424.1 BC008398.1 BC018061.1 BX648477.1 L02950.1 U85772.1

8 DOTS entries:

DT.113280 DT.95164008 DT.120657645 DT.87046931 DT.100781760 DT.120657639 DT.40126790 DT.95196460

24/90 AceView cDNA sequences (see all 90):

AA936267 BI860684 BQ639566 BQ639878 CA944935 AI859176 U85772 CD107892

BM709216 AV703147 T28859 CD513160 NM_001888 L02950 BI914956 AA662278

AI659267 BV179762 BP347857 AI304917 AI914479 BX648477 CF551980 AI247731

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for CRYM About this scheme

ExUns:	1a	·	1b	·	1c	^	2a	·	2b	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7a	·	7b	^	8
SP1:															-				-						-
SP2:							-								-				-
SP3:
SP4:

ECgene alternative splicing isoforms for CRYM

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CRYM expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTTACCTTA

About this image

CRYM expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Metanephric Mesenchyme

Metanephric Mesenchyme Cells

Kidney

Limb

Forelimb Myotome

Limb Muscle Progenitor Cells

Skeletal Muscle

Limb

Zeugopod

Mesenchymal Condensate Cells

Bone, Cartilage

Skeletal Muscle

Hyoid Arch Muscles

Myoblasts

Skeletal Muscle

Mandibular Arch Muscles

Skeletal Muscle

Brain

Brain

Brain

Head Mesenchyme

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Posterior foregut-like cells (A scalable, suspensi...)

Beating cell clusters (Spontaneous differen...)

See CRYM Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CRYM

SOURCE GeneReport for Unigene cluster: Hs.924

UniProtKB/Swiss-Prot: CRYM_HUMAN, Q14894

Tissue specificity: Expressed in neural tissue, muscle and kidney

SABiosciences Custom PCR Arrays for CRYM

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRYM

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYM

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CRYM gene from 8/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Crym^{1 , 5}	crystallin, mu^{1, 5}	87.01(n)¹ 88.82(a)¹		7 (64.47 cM)⁵ 12971¹ NM_016669.1¹ NP_057878.1¹ 120186380⁵
chicken (Gallus gallus)	Aves	CRYM¹	crystallin, mu	70.1(n) 73.95(a)		427008 XM_424610.3 XP_424610.2
lizard (Anolis carolinensis)	Reptilia	CRYM⁶	--	80(a)	1 ↔ 1	AAWZ02036656(11169-23523)
African clawed frog (Xenopus laevis)	Amphibia	Xl.24695²	Xenopus laevis transcribed sequence with weak similarity more	73.62(n)		CB565151.1
zebrafish (Danio rerio)	Actinopterygii	Dr.22409²	Transcribed sequence with moderate similarity to protein more	72.65(n)		BI886818.1
fruit fly (Drosophila melanogaster)	Insecta	CG4872¹	CG4872	49.12(n) 35.76(a)		32676 NM_132945.2 NP_573173.2
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G52810¹	Rossmann-fold NAD(P)-binding domain-containing protein	44.96(n) 32.89(a)		835358 NM_124659.1 NP_200093.1
rice (Oryza sativa)	Liliopsida	Os10g0533200¹	hypothetical protein	49.43(n) 38.44(a)		4349222 NM_001071689.1 NP_001065154.1

ENSEMBL Gene Tree for CRYM (if available)
TreeFam Gene Tree for CRYM (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894509^1,2	C	pathogenic	19805353(-)	`AAATAA/TAACAA`	4	* Y	--		0	--	--	--	--
rs104894512^1,2	C	pathogenic	19805357(-)	`TGGTAA/CATAAA`	4	K T	mis¹		0	--	--	--	--
rs74595324^1,2	F	--	19805240(+)	`CATGAT/CAAGCA`	2	--	ut3¹		1		WA	118
rs35946835^1,2	C	--	19805260(+)	`AGTTCA/GCTGGG`	2	--	ut3¹		1		NA	2
rs10726^1,2	C	--	19805262(-)	`TCCCCA/GGTGAA`	2	--	ut3¹ ese³		2		MN NA	186
rs76286936^1,2	C	--	19805532(+)	`ATTGGA/CATAAC`	2	--	int¹		2		CSA WA	120
rs11859085^1,2	C,F,H	--	19806617(+)	`CCTTTG/ATCTTC`	2	--	int¹		9		NS EA NA WA	834
rs73539733^1,2	C	--	19807410(+)	`TGGGTC/GTCTGC`	2	--	int¹		2		WA	120
rs9929642^1,2	C,F	--	19809600(+)	`CAACCA/GGTTCT`	2	--	int¹		1		WA	118
rs226049^1,2	C,F,A,H	--	19809792(+)	`caacaT/Cggtga`	2	--	int¹		3		NA	10

HapMap Linkage Disequilibrium report for CRYM (21250195 - 21314404 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CRYM
2 CNVs: 3114 8817
Human Gene Mutation Database (HGMD): CRYM

Locus Specific Mutation Databases (LSDB): CRYM

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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CRYM for disorders           About GeneDecksing

OMIM gene information: 123740    OMIM disorders: --

20/21 diseases for CRYM (see all 21):    About MalaCards

deafness, autosomal dominant 40 thyroiditis familial juvenile hyperuricemic nephropathy facioscapulohumeral muscular dystrophy

thyroid hormone metabolism hyperuricemic nephropathy nonsyndromic deafness muscular dystrophy

macular degeneration retinitis pigmentosa prostate cancer, progression of hyperthyroidism

brain cancer prostate cancer cataract hyperglycemia

retinitis nephropathy prostatitis breast cancer

2 diseases from the University of Copenhagen DISEASES database for CRYM:

Facioscapulohumeral muscular dystrophy Nonsyndromic deafness

2 Novoseek disease relationships for CRYM gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tumors	0	6	12160330 (1), 11888886 (1), 19353593 (1)
cancer	0	2	19353593 (2)

Human Genome Epidemiology (HuGE) Navigator: CRYM (1 document)

Export disorders for CRYM gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CRYM gene, integrated from 9 sources (see all 43):
(articles sorted by number of sources associating them with CRYM)

Utopia: connect your pdf to the dynamic
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Mammalian forebrain ketimine reductase identified as I1-crystallin; potential regulation by thyroid hormones. (PubMed id 21332720)^{1, 2, 3} Hallen A....Willows R.D. (2011)
Two roles for mu-crystallin: a lens structural protein in diurnal marsupials and a possible enzyme in mammalian retinas. (PubMed id 9285773)^{1, 2, 9} Segovia L.... Wistow G. (1997)
Crystal structure of human micro-crystallin complexed with NADPH. (PubMed id 17242435)^{1, 2, 9} Cheng Z.... Gong W. (2007)
Mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina. (PubMed id 1384048)^{1, 2, 9} Kim R.Y.... Wistow G.J. (1992)
Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein. (PubMed id 9328354)^{1, 2, 9} Vie M.-P.... Blondeau J.-P. (1997)
Localization of the human gene for mu-crystallin to chromosome 16p. (PubMed id 1478656)^{1, 3, 9} Chen H....Antonarakis S.E. (1992)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)^{1, 2} Loftus B.J.... Adams M.D. (1999)
Hyperglycemia induces elevated expression of thyroid hormone binding protein in vivo in kidney and heart and in vitro in mesangial c ells. (PubMed id 20018174)^{1, 9} Al-Kafaji G. and Malik A.N. (2010)
Identification of mu-crystallin as an androgen-regula ted gene in human prostate cancer. (PubMed id 19353593)^{1, 9} Malinowska K....Culig Z. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 1428	HGNC: 2418	AceView: CRYM	Ensembl:ENSG00000103316	euGenes: HUgn1428
ECgene: CRYM	H-InvDB: CRYM

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CRYM	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CRYM gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CRYM gene:
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GeneCards and IP:
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crystallin, mu

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