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Q8IZ52 (CHSS2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 105. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chondroitin sulfate synthase 2

EC=2.4.1.175
EC=2.4.1.226
Alternative name(s):
Chondroitin glucuronyltransferase 2
Chondroitin-polymerizing factor
Short name=ChPF
Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase II
N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase II
N-acetylgalactosaminyltransferase 2
Gene names
Name:CHPF
Synonyms:CSS2
ORF Names:UNQ651/PRO1281
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length775 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin polymer. Isoform 2 may facilitate PARK2 transport into the mitochondria. In collaboration with PARK2, isoform 2 may enhance cell viability and protect cells from oxidative stress. Ref.2 Ref.9

Catalytic activity

UDP-N-acetyl-alpha-D-galactosamine + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan = UDP + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-proteoglycan.

UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan.

Cofactor

Mn2+. Highest activities are measured with manganese. Can also utilize cobalt. Ref.2

Subunit structure

Binds CHSY1. Isoform 1, isoform 2 and isoform 3 interact with PARK2.

Subcellular location

Isoform 1: Golgi apparatusGolgi stack membrane; Single-pass type II membrane protein Probable. Cytoplasmcytosol.

Isoform 3: Cytoplasmcytosol. Mitochondrion Ref.9.

Isoform 2: Mitochondrion matrix Probable Ref.9.

Tissue specificity

Ubiquitous. Highly expressed in pancreas, ovary, brain, heart, skeletal muscle, colon, kidney, liver, stomach, spleen and placenta. Isoform 3 is also ubiquitous. Isoform 2 is expressed in brain, spleen, ovary, testis, lung and peripheral mononuclear cells. Ref.1 Ref.2 Ref.9

Sequence similarities

Belongs to the chondroitin N-acetylgalactosaminyltransferase family.

Ontologies

Keywords
   Cellular componentCytoplasm
Golgi apparatus
Membrane
Mitochondrion
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainSignal-anchor
Transmembrane
Transmembrane helix
   LigandMetal-binding
   Molecular functionTransferase
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcarbohydrate metabolic process

Traceable author statement. Source: Reactome

chondroitin sulfate biosynthetic process

Traceable author statement. Source: Reactome

chondroitin sulfate metabolic process

Traceable author statement. Source: Reactome

glycosaminoglycan metabolic process

Traceable author statement. Source: Reactome

small molecule metabolic process

Traceable author statement. Source: Reactome

   Cellular_componentGolgi cisterna membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

Golgi membrane

Traceable author statement. Source: Reactome

cytosol

Inferred from electronic annotation. Source: UniProtKB-SubCell

integral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

mitochondrial matrix

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionN-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity

Inferred from electronic annotation. Source: UniProtKB-EC

glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity

Inferred from electronic annotation. Source: UniProtKB-EC

metal ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

PARK2O602605EBI-9029620,EBI-716346

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8IZ52-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q8IZ52-2)

Also known as: Klokin1;

The sequence of this isoform differs from the canonical sequence as follows:
     1-460: Missing.
Isoform 3 (identifier: Q8IZ52-4)

Also known as: ChPF(D996);

The sequence of this isoform differs from the canonical sequence as follows:
     1-162: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 775775Chondroitin sulfate synthase 2
PRO_0000189560

Regions

Topological domain1 – 1515Cytoplasmic Potential
Transmembrane16 – 3419Helical; Signal-anchor for type II membrane protein; Potential
Topological domain35 – 775741Lumenal Potential
Compositional bias515 – 57157Ala-rich

Sites

Metal binding6171Divalent metal cation Potential

Amino acid modifications

Glycosylation1381N-linked (GlcNAc...) Potential
Glycosylation3611N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence1 – 460460Missing in isoform 2.
VSP_053433
Alternative sequence1 – 162162Missing in isoform 3.
VSP_053434
Natural variant3711Q → R Most frequent polymorphism. Ref.1 Ref.2 Ref.3 Ref.4 Ref.6 Ref.7 Ref.8
Corresponds to variant rs6436155 [ dbSNP | Ensembl ].
VAR_047394

Experimental info

Sequence conflict6501A → G in AAQ88769. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 2, 2010. Version 2.
Checksum: 94EDDB2481C97B70

FASTA77585,467
        10         20         30         40         50         60 
MRASLLLSVL RPAGPVAVGI SLGFTLSLLS VTWVEEPCGP GPPQPGDSEL PPRGNTNAAR 

        70         80         90        100        110        120 
RPNSVQPGAE REKPGAGEGA GENWEPRVLP YHPAQPGQAA KKAVRTRYIS TELGIRQRLL 

       130        140        150        160        170        180 
VAVLTSQTTL PTLGVAVNRT LGHRLERVVF LTGARGRRAP PGMAVVTLGE ERPIGHLHLA 

       190        200        210        220        230        240 
LRHLLEQHGD DFDWFFLVPD TTYTEAHGLA RLTGHLSLAS AAHLYLGRPQ DFIGGEPTPG 

       250        260        270        280        290        300 
RYCHGGFGVL LSRMLLQQLR PHLEGCRNDI VSARPDEWLG RCILDATGVG CTGDHEGVHY 

       310        320        330        340        350        360 
SHLELSPGEP VQEGDPHFRS ALTAHPVRDP VHMYQLHKAF ARAELERTYQ EIQELQWEIQ 

       370        380        390        400        410        420 
NTSHLAVDGD QAAAWPVGIP APSRPASRFE VLRWDYFTEQ HAFSCADGSP RCPLRGADRA 

       430        440        450        460        470        480 
DVADVLGTAL EELNRRYHPA LRLQKQQLVN GYRRFDPARG MEYTLDLQLE ALTPQGGRRP 

       490        500        510        520        530        540 
LTRRVQLLRP LSRVEILPVP YVTEASRLTV LLPLAAAERD LAPGFLEAFA TAALEPGDAA 

       550        560        570        580        590        600 
AALTLLLLYE PRQAQRVAHA DVFAPVKAHV AELERRFPGA RVPWLSVQTA APSPLRLMDL 

       610        620        630        640        650        660 
LSKKHPLDTL FLLAGPDTVL TPDFLNRCRM HAISGWQAFF PMHFQAFHPA VAPPQGPGPP 

       670        680        690        700        710        720 
ELGRDTGRFD RQAASEACFY NSDYVAARGR LAAASEQEEE LLESLDVYEL FLHFSSLHVL 

       730        740        750        760        770 
RAVEPALLQR YRAQTCSARL SEDLYHRCLQ SVLEGLGSRT QLAMLLFEQE QGNST 

« Hide

Isoform 2 (Klokin1) [UniParc].

Checksum: F31E832CBAF52F64
Show »

FASTA31534,955
Isoform 3 (ChPF(D996)) [UniParc].

Checksum: F921806F335177C7
Show »

FASTA61368,341

References

« Hide 'large scale' references
[1]"Molecular cloning of a chondroitin polymerizing factor that cooperates with chondroitin synthase for chondroitin polymerization."
Kitagawa H., Izumikawa T., Uyama T., Sugahara K.
J. Biol. Chem. 278:23666-23671(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), INTERACTION WITH CHSY1, TISSUE SPECIFICITY, VARIANT ARG-371.
[2]"Chondroitin sulfate synthase-2. Molecular cloning and characterization of a novel human glycosyltransferase homologous to chondroitin sulfate glucuronyltransferase, which has dual enzymatic activities."
Yada T., Gotoh M., Sato T., Shionyu M., Go M., Kaseyama H., Iwasaki H., Kikuchi N., Kwon Y.-D., Togayachi A., Kudo T., Watanabe H., Narimatsu H., Kimata K.
J. Biol. Chem. 278:30235-30247(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, COFACTOR, TISSUE SPECIFICITY, VARIANT ARG-371.
[3]"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment."
Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. expand/collapse author list , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.
Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-371.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), VARIANT ARG-371.
Tissue: Small intestine.
[5]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANT ARG-371.
[7]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ARG-371.
Tissue: Brain, Muscle and Skin.
[8]"Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs."
Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S., Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J., Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W., Ottenwaelder B., Obermaier B. expand/collapse author list , Tampe J., Heubner D., Wambutt R., Korn B., Klein M., Poustka A.
Genome Res. 11:422-435(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 210-775, VARIANT ARG-371.
Tissue: Testis.
[9]"Parkin interacts with Klokin1 for mitochondrial import and maintenance of membrane potential."
Kuroda Y., Sako W., Goto S., Sawada T., Uchida D., Izumi Y., Takahashi T., Kagawa N., Matsumoto M., Matsumoto M., Takahashi R., Kaji R., Mitsui T.
Hum. Mol. Genet. 21:991-1003(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING, FUNCTION (ISOFORM 2), INTERACTION WITH PARK2, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Web resources

GGDB

GlycoGene database

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB095813 mRNA. Translation: BAC78393.1.
AB086063 mRNA. Translation: BAC81536.1.
AY358403 mRNA. Translation: AAQ88769.1.
AK026331 mRNA. Translation: BAB15449.1.
AK302124 mRNA. Translation: BAG63502.1.
AC009955 Genomic DNA. No translation available.
CH471063 Genomic DNA. Translation: EAW70768.1.
BC008878 mRNA. Translation: AAH08878.2.
BC021223 mRNA. Translation: AAH21223.2.
BC023531 mRNA. Translation: AAH23531.1.
AL136814 mRNA. Translation: CAB66748.2.
RefSeqNP_001182660.1. NM_001195731.1.
NP_078812.2. NM_024536.5.
UniGeneHs.516711.

3D structure databases

ProteinModelPortalQ8IZ52.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122729. 10 interactions.
IntActQ8IZ52. 8 interactions.
MINTMINT-1184453.
STRING9606.ENSP00000243776.

Protein family/group databases

CAZyGT31. Glycosyltransferase Family 31.
GT7. Glycosyltransferase Family 7.

PTM databases

PhosphoSiteQ8IZ52.

Polymorphism databases

DMDM311033361.

Proteomic databases

PaxDbQ8IZ52.
PRIDEQ8IZ52.

Protocols and materials databases

DNASU79586.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000243776; ENSP00000243776; ENSG00000123989. [Q8IZ52-1]
ENST00000535926; ENSP00000445571; ENSG00000123989. [Q8IZ52-4]
GeneID79586.
KEGGhsa:79586.
UCSCuc002vmc.4. human. [Q8IZ52-1]

Organism-specific databases

CTD79586.
GeneCardsGC02M220367.
HGNCHGNC:24291. CHPF.
HPAHPA035123.
MIM610405. gene.
neXtProtNX_Q8IZ52.
PharmGKBPA162382245.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG331887.
HOGENOMHOG000037934.
HOVERGENHBG050941.
InParanoidQ8IZ52.
KOK00747.
OMACRNDIVS.
OrthoDBEOG790G17.
PhylomeDBQ8IZ52.
TreeFamTF318303.

Enzyme and pathway databases

BioCycMetaCyc:HS13103-MONOMER.
BRENDA2.4.1.226. 2681.
ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

ArrayExpressQ8IZ52.
BgeeQ8IZ52.
CleanExHS_CHPF.
GenevestigatorQ8IZ52.

Family and domain databases

InterProIPR008428. Chond_GalNAc.
[Graphical view]
PANTHERPTHR12369. PTHR12369. 1 hit.
PfamPF05679. CHGN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiCHPF.
GenomeRNAi79586.
NextBio68587.
PROQ8IZ52.
SOURCESearch...

Entry information

Entry nameCHSS2_HUMAN
AccessionPrimary (citable) accession number: Q8IZ52
Secondary accession number(s): B4DXU0 expand/collapse secondary AC list , Q6UXD6, Q7L4G1, Q9H0F8, Q9H618
Entry history
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: November 2, 2010
Last modified: April 16, 2014
This is version 105 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM