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O14647 (CHD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 122. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Chromodomain-helicase-DNA-binding protein 2

Short name=CHD-2
EC=3.6.4.12
Alternative name(s):
ATP-dependent helicase CHD2
Gene names
Name:CHD2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1828 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression By similarity.

Catalytic activity

ATP + H2O = ADP + phosphate.

Subunit structure

Interacts with MYOD1. Interacts with histone H3.3 By similarity.

Subcellular location

Nucleus By similarity. Note: Binds to myogenic gene promoters By similarity.

Involvement in disease

Epileptic encephalopathy, childhood-onset (EEOC) [MIM:615369]: A severe form of epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

Sequence similarities

Belongs to the SNF2/RAD54 helicase family.

Contains 2 chromo domains.

Contains 1 helicase ATP-binding domain.

Contains 1 helicase C-terminal domain.

Ontologies

Keywords
   Biological processMyogenesis
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDisease mutation
Epilepsy
   DomainRepeat
   LigandATP-binding
DNA-binding
Nucleotide-binding
   Molecular functionChromatin regulator
Helicase
Hydrolase
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processDNA duplex unwinding

Traceable author statement Ref.1. Source: GOC

cellular response to DNA damage stimulus

Inferred from electronic annotation. Source: Ensembl

chromatin modification

Inferred from electronic annotation. Source: UniProtKB-KW

hematopoietic stem cell differentiation

Inferred from electronic annotation. Source: Ensembl

muscle organ development

Inferred from sequence or structural similarity. Source: UniProtKB

regulation of transcription from RNA polymerase II promoter

Traceable author statement Ref.1. Source: ProtInc

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from sequence or structural similarity. Source: UniProtKB

   Molecular_functionATP binding

Inferred from electronic annotation. Source: UniProtKB-KW

ATP-dependent DNA helicase activity

Traceable author statement Ref.1. Source: ProtInc

DNA binding

Traceable author statement Ref.1. Source: ProtInc

core promoter sequence-specific DNA binding

Inferred from sequence or structural similarity. Source: UniProtKB

histone binding

Inferred from sequence or structural similarity. Source: UniProtKB

poly(A) RNA binding

Inferred from direct assay PubMed 22658674PubMed 22681889. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O14647-1)

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: O14647-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1719-1739: HHHDSKRRRSDEFRPQNYHQQ → YAKGCETPGANLCQELFLGRK
     1740-1828: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: O14647-3)

The sequence of this isoform differs from the canonical sequence as follows:
     502-1828: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 18281828Chromodomain-helicase-DNA-binding protein 2
PRO_0000080226

Regions

Domain261 – 35393Chromo 1
Domain378 – 45679Chromo 2
Domain496 – 666171Helicase ATP-binding
Domain795 – 946152Helicase C-terminal
Nucleotide binding509 – 5168ATP Potential
Motif617 – 6204DEAH box
Compositional bias13 – 7462Ser-rich
Compositional bias121 – 13919Ser-rich
Compositional bias966 – 1066101Glu-rich

Amino acid modifications

Modified residue2071Phosphoserine Ref.10 Ref.11
Modified residue2081Phosphoserine Ref.10 Ref.11
Modified residue2401Phosphothreonine Ref.9 Ref.11
Modified residue2421Phosphoserine Ref.9 Ref.11

Natural variations

Alternative sequence502 – 18281327Missing in isoform 3.
VSP_042791
Alternative sequence1719 – 173921HHHDS…NYHQQ → YAKGCETPGANLCQELFLGR K in isoform 2.
VSP_021918
Alternative sequence1740 – 182889Missing in isoform 2.
VSP_021919
Natural variant5481W → R in EEOC. Ref.12
VAR_070209
Natural variant8231L → P in EEOC. Ref.12
VAR_070210
Natural variant15741G → A.
Corresponds to variant rs56227200 [ dbSNP | Ensembl ].
VAR_061099

Experimental info

Sequence conflict11561I → L in AAB87382. Ref.1

Sequences

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

Last modified December 12, 2006. Version 2.
Checksum: 13139D6059210F00

FASTA1,828211,344
        10         20         30         40         50         60 
MMRNKDKSQE EDSSLHSNAS SHSASEEASG SDSGSQSESE QGSDPGSGHG SESNSSSESS 

        70         80         90        100        110        120 
ESQSESESES AGSKSQPVLP EAKEKPASKK ERIADVKKMW EEYPDVYGVR RSNRSRQEPS 

       130        140        150        160        170        180 
RFNIKEEASS GSESGSPKRR GQRQLKKQEK WKQEPSEDEQ EQGTSAESEP EQKKVKARRP 

       190        200        210        220        230        240 
VPRRTVPKPR VKKQPKTQRG KRKKQDSSDE DDDDDEAPKR QTRRRAAKNV SYKEDDDFET 

       250        260        270        280        290        300 
DSDDLIEMTG EGVDEQQDNS ETIEKVLDSR LGKKGATGAS TTVYAIEANG DPSGDFDTEK 

       310        320        330        340        350        360 
DEGEIQYLIK WKGWSYIHST WESEESLQQQ KVKGLKKLEN FKKKEDEIKQ WLGKVSPEDV 

       370        380        390        400        410        420 
EYFNCQQELA SELNKQYQIV ERVIAVKTSK STLGQTDFPA HSRKPAPSNE PEYLCKWMGL 

       430        440        450        460        470        480 
PYSECSWEDE ALIGKKFQNC IDSFHSRNNS KTIPTRECKA LKQRPRFVAL KKQPAYLGGE 

       490        500        510        520        530        540 
NLELRDYQLE GLNWLAHSWC KNNSVILADE MGLGKTIQTI SFLSYLFHQH QLYGPFLIVV 

       550        560        570        580        590        600 
PLSTLTSWQR EFEIWAPEIN VVVYIGDLMS RNTIREYEWI HSQTKRLKFN ALITTYEILL 

       610        620        630        640        650        660 
KDKTVLGSIN WAFLGVDEAH RLKNDDSLLY KTLIDFKSNH RLLITGTPLQ NSLKELWSLL 

       670        680        690        700        710        720 
HFIMPEKFEF WEDFEEDHGK GRENGYQSLH KVLEPFLLRR VKKDVEKSLP AKVEQILRVE 

       730        740        750        760        770        780 
MSALQKQYYK WILTRNYKAL AKGTRGSTSG FLNIVMELKK CCNHCYLIKP PEENERENGQ 

       790        800        810        820        830        840 
EILLSLIRSS GKLILLDKLL TRLRERGNRV LIFSQMVRML DILAEYLTIK HYPFQRLDGS 

       850        860        870        880        890        900 
IKGEIRKQAL DHFNADGSED FCFLLSTRAG GLGINLASAD TVVIFDSDWN PQNDLQAQAR 

       910        920        930        940        950        960 
AHRIGQKKQV NIYRLVTKGT VEEEIIERAK KKMVLDHLVI QRMDTTGRTI LENNSGRSNS 

       970        980        990       1000       1010       1020 
NPFNKEELTA ILKFGAEDLF KELEGEESEP QEMDIDEILR LAETRENEVS TSATDELLSQ 

      1030       1040       1050       1060       1070       1080 
FKVANFATME DEEELEERPH KDWDEIIPEE QRKKVEEEER QKELEEIYML PRIRSSTKKA 

      1090       1100       1110       1120       1130       1140 
QTNDSDSDTE SKRQAQRSSA SESETEDSDD DKKPKRRGRP RSVRKDLVEG FTDAEIRRFI 

      1150       1160       1170       1180       1190       1200 
KAYKKFGLPL ERLECIARDA ELVDKSVADL KRLGELIHNS CVSAMQEYEE QLKENASEGK 

      1210       1220       1230       1240       1250       1260 
GPGKRRGPTI KISGVQVNVK SIIQHEEEFE MLHKSIPVDP EEKKKYCLTC RVKAAHFDVE 

      1270       1280       1290       1300       1310       1320 
WGVEDDSRLL LGIYEHGYGN WELIKTDPEL KLTDKILPVE TDKKPQGKQL QTRADYLLKL 

      1330       1340       1350       1360       1370       1380 
LRKGLEKKGA VTGGEEAKLK KRKPRVKKEN KVPRLKEEHG IELSSPRHSD NPSEEGEVKD 

      1390       1400       1410       1420       1430       1440 
DGLEKSPMKK KQKKKENKEN KEKQMSSRKD KEGDKERKKS KDKKEKPKSG DAKSSSKSKR 

      1450       1460       1470       1480       1490       1500 
SQGPVHITAG SEPVPIGEDE DDDLDQETFS ICKERMRPVK KALKQLDKPD KGLNVQEQLE 

      1510       1520       1530       1540       1550       1560 
HTRNCLLKIG DRIAECLKAY SDQEHIKLWR RNLWIFVSKF TEFDARKLHK LYKMAHKKRS 

      1570       1580       1590       1600       1610       1620 
QEEEEQKKKD DVTGGKKPFR PEASGSSRDS LISQSHTSHN LHPQKPHLPA SHGPQMHGHP 

      1630       1640       1650       1660       1670       1680 
RDNYNHPNKR HFSNADRGDW QRERKFNYGG GNNNPPWGSD RHHQYEQHWY KDHHYGDRRH 

      1690       1700       1710       1720       1730       1740 
MDAHRSGSYR PNNMSRKRPY DQYSSDRDHR GHRDYYDRHH HDSKRRRSDE FRPQNYHQQD 

      1750       1760       1770       1780       1790       1800 
FRRMSDHRPA MGYHGQGPSD HYRSFHTDKL GEYKQPLPPL HPAVSDPRSP PSQKSPHDSK 

      1810       1820 
SPLDHRSPLE RSLEQKNNPD YNWNVRKT 

« Hide

Isoform 2 [UniParc].

Checksum: 934528063B1A950E
Show »

FASTA1,739200,562
Isoform 3 [UniParc].

Checksum: 14320F994CE72BF1
Show »

FASTA50156,826

References

« Hide 'large scale' references
[1]"Characterization of the CHD family of proteins."
Woodage T., Basrai M.A., Baxevanis A.D., Hieter P., Collins F.S.
Proc. Natl. Acad. Sci. U.S.A. 94:11472-11477(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[3]NHLBI resequencing and genotyping service (RS&G)
Submitted (DEC-2008) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]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].
[6]"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 3).
Tissue: Skin.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1635-1828 (ISOFORM 1).
Tissue: T-cell.
[8]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-240 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[10]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-207 AND SER-208, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[11]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-207; SER-208; THR-240 AND SER-242, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[12]"Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1."
Carvill G.L., Heavin S.B., Yendle S.C., McMahon J.M., O'Roak B.J., Cook J., Khan A., Dorschner M.O., Weaver M., Calvert S., Malone S., Wallace G., Stanley T., Bye A.M., Bleasel A., Howell K.B., Kivity S., Mackay M.T. expand/collapse author list , Rodriguez-Casero V., Webster R., Korczyn A., Afawi Z., Zelnick N., Lerman-Sagie T., Lev D., Moeller R.S., Gill D., Andrade D.M., Freeman J.L., Sadleir L.G., Shendure J., Berkovic S.F., Scheffer I.E., Mefford H.C.
Nat. Genet. 45:825-830(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS EEOC ARG-548 AND PRO-823.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF006514 mRNA. Translation: AAB87382.1.
BT007050 mRNA. Translation: AAP35699.1.
FJ515838 Genomic DNA. Translation: ACS13730.1.
AC013394 Genomic DNA. No translation available.
CH471101 Genomic DNA. Translation: EAX02160.1.
BC007347 mRNA. Translation: AAH07347.1.
CR978407 mRNA. No translation available.
RefSeqNP_001036037.1. NM_001042572.2.
NP_001262.3. NM_001271.3.
UniGeneHs.220864.

3D structure databases

ProteinModelPortalO14647.
SMRO14647. Positions 261-447, 1129-1334.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107531. 6 interactions.
IntActO14647. 6 interactions.
STRING9606.ENSP00000377747.

PTM databases

PhosphoSiteO14647.

Proteomic databases

PaxDbO14647.
PRIDEO14647.

Protocols and materials databases

DNASU1106.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000394196; ENSP00000377747; ENSG00000173575. [O14647-1]
ENST00000420239; ENSP00000406581; ENSG00000173575. [O14647-3]
ENST00000557381; ENSP00000451366; ENSG00000173575. [O14647-2]
GeneID1106.
KEGGhsa:1106.
UCSCuc002bsn.3. human. [O14647-3]
uc002bso.1. human. [O14647-2]
uc002bsp.3. human. [O14647-1]

Organism-specific databases

CTD1106.
GeneCardsGC15P094240.
HGNCHGNC:1917. CHD2.
HPAHPA053875.
HPA060744.
HPA060960.
MIM602119. gene.
615369. phenotype.
neXtProtNX_O14647.
Orphanet1942. Epilepsy with myoclonic-astatic seizures.
2382. Lennox-Gastaut syndrome.
PharmGKBPA26453.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0553.
HOGENOMHOG000207917.
HOVERGENHBG005325.
InParanoidO14647.
KOK11367.
OMAKRPYEQY.
OrthoDBEOG7NPFSB.
PhylomeDBO14647.
TreeFamTF313461.

Gene expression databases

ArrayExpressO14647.
BgeeO14647.
CleanExHS_CHD2.
GenevestigatorO14647.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR023780. Chromo_domain.
IPR000953. Chromo_domain/shadow.
IPR016197. Chromodomain-like.
IPR023779. Chromodomain_CS.
IPR025260. DUF4208.
IPR014001. Helicase_ATP-bd.
IPR001650. Helicase_C.
IPR027417. P-loop_NTPase.
IPR000330. SNF2_N.
[Graphical view]
PfamPF00385. Chromo. 2 hits.
PF13907. DUF4208. 1 hit.
PF00271. Helicase_C. 1 hit.
PF00176. SNF2_N. 1 hit.
[Graphical view]
SMARTSM00298. CHROMO. 2 hits.
SM00487. DEXDc. 1 hit.
SM00490. HELICc. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 2 hits.
SSF54160. SSF54160. 2 hits.
PROSITEPS00598. CHROMO_1. 2 hits.
PS50013. CHROMO_2. 2 hits.
PS51192. HELICASE_ATP_BIND_1. 1 hit.
PS51194. HELICASE_CTER. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCHD2. human.
GeneWikiCHD2.
GenomeRNAi1106.
NextBio4584.
PROO14647.
SOURCESearch...

Entry information

Entry nameCHD2_HUMAN
AccessionPrimary (citable) accession number: O14647
Secondary accession number(s): C6G482, Q96IP5
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: December 12, 2006
Last modified: April 16, 2014
This is version 122 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 15

Human chromosome 15: entries, gene names and cross-references to MIM