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O00305 (CACB4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 153. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Voltage-dependent L-type calcium channel subunit beta-4

Short name=CAB4
Alternative name(s):
Calcium channel voltage-dependent subunit beta 4
Gene names
Name:CACNB4
Synonyms:CACNLB4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length520 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

The beta subunit of voltage-dependent calcium channels contributes to the function of the calcium channel by increasing peak calcium current, shifting the voltage dependencies of activation and inactivation, modulating G protein inhibition and controlling the alpha-1 subunit membrane targeting.

Subunit structure

The L-type calcium channel is composed of four subunits: alpha-1, alpha-2, beta and gamma. Interacts with FASLG. Ref.10

Tissue specificity

Expressed predominantly in the cerebellum and kidney.

Involvement in disease

Epilepsy, idiopathic generalized 9 (EIG9) [MIM:607682]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9

Juvenile myoclonic epilepsy 6 (EJM6) [MIM:607682]: A subtype of idiopathic generalized epilepsy. Patients have afebrile seizures only, with onset in adolescence (rather than in childhood) and myoclonic jerks which usually occur after awakening and are triggered by sleep deprivation and fatigue.
Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Ref.9

Episodic ataxia 5 (EA5) [MIM:613855]: A disorder characterized by episodes of vertigo and ataxia that last for several hours. Interictal examination show spontaneous downbeat and gaze-evoked nystagmus, mild dysarthria and truncal ataxia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.9

Sequence similarities

Belongs to the calcium channel beta subunit family.

Contains 1 SH3 domain.

Ontologies

Keywords
   Biological processCalcium transport
Ion transport
Transport
   Coding sequence diversityAlternative splicing
   DiseaseDisease mutation
Epilepsy
   DomainSH3 domain
   LigandCalcium
   Molecular functionCalcium channel
Ion channel
Voltage-gated channel
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processPeyer's patch development

Inferred from electronic annotation. Source: Ensembl

T cell receptor signaling pathway

Inferred from electronic annotation. Source: Ensembl

adult walking behavior

Inferred from electronic annotation. Source: Ensembl

axon guidance

Traceable author statement. Source: Reactome

cAMP metabolic process

Inferred from electronic annotation. Source: Ensembl

calcium ion transmembrane transport

Inferred from direct assay Ref.2. Source: GOC

cellular calcium ion homeostasis

Inferred from electronic annotation. Source: Ensembl

detection of light stimulus involved in visual perception

Inferred from electronic annotation. Source: Ensembl

gamma-aminobutyric acid secretion

Inferred from electronic annotation. Source: Ensembl

gamma-aminobutyric acid signaling pathway

Inferred from electronic annotation. Source: Ensembl

membrane depolarization

Traceable author statement. Source: Reactome

muscle fiber development

Inferred from electronic annotation. Source: Ensembl

neuromuscular junction development

Inferred from electronic annotation. Source: Ensembl

neuronal action potential propagation

Inferred from electronic annotation. Source: Ensembl

regulation of voltage-gated calcium channel activity

Inferred from mutant phenotype Ref.2. Source: UniProtKB

spleen development

Inferred from electronic annotation. Source: Ensembl

synaptic transmission

Traceable author statement. Source: Reactome

synaptic transmission, glutamatergic

Inferred from electronic annotation. Source: Ensembl

thymus development

Inferred from electronic annotation. Source: Ensembl

transport

Traceable author statement Ref.8. Source: ProtInc

   Cellular_componentcytoplasmic side of plasma membrane

Traceable author statement PubMed 16385006. Source: UniProtKB

cytosol

Traceable author statement. Source: Reactome

plasma membrane

Inferred from direct assay PubMed 16525042PubMed 16525042. Source: UniProtKB

synapse

Inferred from direct assay PubMed 16525042. Source: UniProtKB

voltage-gated calcium channel complex

Inferred from direct assay PubMed 16525042. Source: UniProtKB

   Molecular_functionprotein binding

Inferred from physical interaction PubMed 16525042. Source: IntAct

voltage-gated calcium channel activity

Inferred from electronic annotation. Source: Ensembl

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

SYT1P215792EBI-714855,EBI-524909

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O00305-1)

Also known as: 4b;

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: O00305-2)

Also known as: 4a;

The sequence of this isoform differs from the canonical sequence as follows:
     1-49: MSSSSYAKNGTADGPHSPTSQVARGTTTRRSRLKRSDGSTTSTSFILRQ → MYDNLYLHGIEDSEA
Isoform 3 (identifier: O00305-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-21: MSSSSYAKNGTADGPHSPTSQ → MDV
Note: No experimental confirmation available.
Isoform 4 (identifier: O00305-4)

Also known as: 4d;

The sequence of this isoform differs from the canonical sequence as follows:
     373-434: Missing.
Note: Unable to interact with the alpha-1 subunit.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 520520Voltage-dependent L-type calcium channel subunit beta-4
PRO_0000144060

Regions

Domain118 – 15336SH3

Amino acid modifications

Modified residue4111Phosphothreonine By similarity

Natural variations

Alternative sequence1 – 4949MSSSS…FILRQ → MYDNLYLHGIEDSEA in isoform 2.
VSP_000635
Alternative sequence1 – 2121MSSSS…SPTSQ → MDV in isoform 3.
VSP_043192
Alternative sequence373 – 43462Missing in isoform 4.
VSP_043193
Natural variant1041C → F in EA5; associated with susceptibility to EIG9. Ref.9
Corresponds to variant rs1805031 [ dbSNP | Ensembl ].
VAR_013669

Experimental info

Sequence conflict2451F → S in AAB53333. Ref.1
Sequence conflict2451F → S in AAL14351. Ref.2
Sequence conflict3111L → V in AAL14351. Ref.2
Sequence conflict4411S → T in AAL14351. Ref.2
Isoform 2:
Sequence conflict121D → N in AAL14351. Ref.2

Secondary structure

.......... 520
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (4b) [UniParc].

Last modified February 6, 2007. Version 2.
Checksum: 21025FA9782347FA

FASTA52058,169
        10         20         30         40         50         60 
MSSSSYAKNG TADGPHSPTS QVARGTTTRR SRLKRSDGST TSTSFILRQG SADSYTSRPS 

        70         80         90        100        110        120 
DSDVSLEEDR EAIRQEREQQ AAIQLERAKS KPVAFAVKTN VSYCGALDED VPVPSTAISF 

       130        140        150        160        170        180 
DAKDFLHIKE KYNNDWWIGR LVKEGCEIGF IPSPLRLENI RIQQEQKRGR FHGGKSSGNS 

       190        200        210        220        230        240 
SSSLGEMVSG TFRATPTSTA KQKQKVTEHI PPYDVVPSMR PVVLVGPSLK GYEVTDMMQK 

       250        260        270        280        290        300 
ALFDFLKHRF DGRISITRVT ADISLAKRSV LNNPSKRAII ERSNTRSSLA EVQSEIERIF 

       310        320        330        340        350        360 
ELARSLQLVV LDADTINHPA QLIKTSLAPI IVHVKVSSPK VLQRLIKSRG KSQSKHLNVQ 

       370        380        390        400        410        420 
LVAADKLAQC PPEMFDVILD ENQLEDACEH LGEYLEAYWR ATHTTSSTPM TPLLGRNLGS 

       430        440        450        460        470        480 
TALSPYPTAI SGLQSQRMRH SNHSTENSPI ERRSLMTSDE NYHNERARKS RNRLSSSSQH 

       490        500        510        520 
SRDHYPLVEE DYPDSYQDTY KPHRNRGSPG GYSHDSRHRL 

« Hide

Isoform 2 (4a) [UniParc].

Checksum: 5E8F03EA98A88597
Show »

FASTA48654,707
Isoform 3 [UniParc].

Checksum: 24BA6BA3A89A46BB
Show »

FASTA50256,422
Isoform 4 (4d) [UniParc].

Checksum: 4AC560044A3BA110
Show »

FASTA45851,331

References

« Hide 'large scale' references
[1]"Assignment of human genes for beta 2 and beta 4 subunits of voltage-dependent Ca2+ channels to chromosomes 10p12 and 2q22-q23."
Taviaux S., Williams M.E., Harpold M.M., Nargeot J., Lory P.
Hum. Genet. 100:151-154(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Brain.
[2]"Alternative splicing of the beta 4 subunit has alpha 1 subunit subtype-specific effects on Ca2+ channel gating."
Helton T.D., Horne W.A.
J. Neurosci. 22:1573-1582(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), ALTERNATIVE SPLICING.
Tissue: Spinal cord.
[3]"The GK domain of the voltage-dependent calcium channel beta subunit is essential for binding to the alpha subunit."
Kobayashi T., Yamada Y., Fukao M., Shiratori K., Tsutsuura M., Tanimoto K., Tohse N.
Biochem. Biophys. Res. Commun. 360:679-683(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4).
Tissue: Brain.
[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).
Tissue: Amygdala and Hippocampus.
[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., 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[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).
Tissue: Brain.
[8]"Calcium channel beta4 (CACNB4): human ortholog of the mouse epilepsy gene lethargic."
Escayg A., Jones J.M., Kearney J.A., Hitchcock P.F., Meisler M.H.
Genomics 50:14-22(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 9-520 (ISOFORM 1).
[9]"Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia."
Escayg A., De Waard M., Lee D.D., Bichet D., Wolf P., Mayer T., Johnston J., Baloh R., Sander T., Meisler M.H.
Am. J. Hum. Genet. 66:1531-1539(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: INVOLVEMENT IN EJM6 AND EIG9, VARIANT EA5 PHE-104.
[10]"Identification of SH3 domain interaction partners of human FasL (CD178) by phage display screening."
Voss M., Lettau M., Janssen O.
BMC Immunol. 10:53-53(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH FASLG.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U95020 mRNA. Translation: AAB53333.1.
AY054985 mRNA. Translation: AAL14351.1.
AB302276 mRNA. Translation: BAF73808.1.
AK290049 mRNA. Translation: BAF82738.1.
AK294398 mRNA. Translation: BAG57651.1.
AK316045 mRNA. Translation: BAH14416.1.
AC068547 Genomic DNA. No translation available.
AC079790 Genomic DNA. No translation available.
AC097448 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX11494.1.
BC075049 mRNA. Translation: AAH75049.1.
AF038852 mRNA. Translation: AAC24206.1.
CCDSCCDS46426.1. [O00305-1]
CCDS46427.1. [O00305-3]
CCDS46428.1. [O00305-2]
CCDS54409.1. [O00305-4]
RefSeqNP_000717.2. NM_000726.3. [O00305-1]
NP_001005746.1. NM_001005746.2. [O00305-3]
NP_001005747.1. NM_001005747.2. [O00305-2]
NP_001139270.1. NM_001145798.1. [O00305-4]
UniGeneHs.120725.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1VYVX-ray3.00A/B254-408[»]
2D46NMR-A50-92[»]
ProteinModelPortalO00305.
SMRO00305. Positions 50-403.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107239. 6 interactions.
IntActO00305. 7 interactions.
MINTMINT-1418672.
STRING9606.ENSP00000343563.

Chemistry

ChEMBLCHEMBL2363032.
DrugBankDB00661. Verapamil.

Protein family/group databases

TCDB8.A.22.1.4. the ca(2+) channel auxiliary subunit types 1-4 (cca-) family.

PTM databases

PhosphoSiteO00305.

Proteomic databases

PaxDbO00305.
PRIDEO00305.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000201943; ENSP00000201943; ENSG00000182389. [O00305-4]
ENST00000427385; ENSP00000410978; ENSG00000182389. [O00305-3]
ENST00000534999; ENSP00000443893; ENSG00000182389. [O00305-2]
ENST00000539935; ENSP00000438949; ENSG00000182389. [O00305-1]
GeneID785.
KEGGhsa:785.
UCSCuc002txy.3. human. [O00305-2]
uc002txz.3. human. [O00305-3]
uc002tya.3. human. [O00305-1]
uc010fnz.3. human. [O00305-4]

Organism-specific databases

CTD785.
GeneCardsGC02M152659.
HGNCHGNC:1404. CACNB4.
HPAHPA015601.
MIM601949. gene.
607682. phenotype.
613855. phenotype.
neXtProtNX_O00305.
Orphanet211067. Episodic ataxia type 5.
307. Juvenile myoclonic epilepsy.
PharmGKBPA26014.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG326500.
HOGENOMHOG000230979.
HOVERGENHBG050765.
InParanoidO00305.
KOK04865.
OMASYAKNGT.
OrthoDBEOG7966G4.
PhylomeDBO00305.
TreeFamTF316195.

Enzyme and pathway databases

ReactomeREACT_111045. Developmental Biology.
REACT_13685. Neuronal System.

Gene expression databases

ArrayExpressO00305.
BgeeO00305.
CleanExHS_CACNB4.
GenevestigatorO00305.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR008145. GK/Ca_channel_bsu.
IPR027417. P-loop_NTPase.
IPR001452. SH3_domain.
IPR000584. VDCC_L_bsu.
[Graphical view]
PANTHERPTHR11824. PTHR11824. 1 hit.
PfamPF00625. Guanylate_kin. 1 hit.
PF12052. VGCC_beta4Aa_N. 1 hit.
[Graphical view]
PRINTSPR01626. LCACHANNELB.
SMARTSM00072. GuKc. 1 hit.
SM00326. SH3. 1 hit.
[Graphical view]
SUPFAMSSF50044. SSF50044. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEPS50002. SH3. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSCACNB4. human.
EvolutionaryTraceO00305.
GeneWikiCACNB4.
GenomeRNAi785.
NextBio3194.
PROO00305.
SOURCESearch...

Entry information

Entry nameCACB4_HUMAN
AccessionPrimary (citable) accession number: O00305
Secondary accession number(s): A7BJ74 expand/collapse secondary AC list , A8K1Y4, B4DG40, O60515, Q6B000, Q96L40
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: February 6, 2007
Last modified: July 9, 2014
This is version 153 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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

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