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Q8WYA1 (BMAL2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 29, 2013. Version 100. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Aryl hydrocarbon receptor nuclear translocator-like protein 2
Alternative name(s):
Basic-helix-loop-helix-PAS protein MOP9
Brain and muscle ARNT-like 2
CYCLE-like factor
Short name=CLIF
Class E basic helix-loop-helix protein 6
Short name=bHLHe6
Member of PAS protein 9
PAS domain-containing protein 9
Gene names
Name:ARNTL2
Synonyms:BHLHE6, BMAL2, CLIF, MOP9, PASD9
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length636 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

ARNTL2-CLOCK heterodimers activate E-box element (5'-CACGTG-5') transcription. Also, in umbilical vein endothelial cells, activates SERPINE1 through E-box sites. This transactivation is inhibited by PER2 and CRY1. Ref.2

Subunit structure

Component of the circadian core oscillator, which includes the CRY proteins, CLOCK, or NPAS2, ARNTL or ARNTL2, CSNK1D and/or CSNK1E, TIMELESS and the PER proteins. Interacts directly with CLOCK to form the ARNTL2-CLOCK transactivator. Can form heterodimers or homodimers which interact directly with CLOCK to form the transcription activator. Also interacts with NPAS2 and HIF1A. Ref.2 Ref.3

Subcellular location

Nucleus Ref.1.

Tissue specificity

Expressed in fetal brain. Highly expressed in brain and placenta. Lower levels in heart, liver, thymus, kidney and lung. Located to endothelial cells and neuronal cells of the suprachiasmatic nucleus (SCN). Also detected in endothelial cells of the heart, lung and kidney. In the brain, specifically expressed in the thalamus, hippocampus and amygdala. Ref.1 Ref.2 Ref.3

Induction

Constitutively expressed. Has no circadian rhythm expression pattern. Ref.2

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Contains 1 PAC (PAS-associated C-terminal) domain.

Contains 2 PAS (PER-ARNT-SIM) domains.

Alternative products

This entry describes 9 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8WYA1-1)

Also known as: BMAL2a;

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: Q8WYA1-2)

Also known as: BMAL2b;

The sequence of this isoform differs from the canonical sequence as follows:
     96-109: Missing.
Isoform 3 (identifier: Q8WYA1-3)

Also known as: BMAL2c;

The sequence of this isoform differs from the canonical sequence as follows:
     11-11: G → GEVAGGEATAPG
     62-95: Missing.
     96-109: Missing.
Isoform 4 (identifier: Q8WYA1-4)

Also known as: BMAL2d;

The sequence of this isoform differs from the canonical sequence as follows:
     62-95: Missing.
     96-109: Missing.
Isoform 5 (identifier: Q8WYA1-5)

Also known as: CLIF;

The sequence of this isoform differs from the canonical sequence as follows:
     62-95: Missing.
Isoform 6 (identifier: Q8WYA1-6)

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: Missing.
     62-95: Missing.
     96-109: Missing.
Isoform 7 (identifier: Q8WYA1-7)

Also known as: MOP9 long form;

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: Missing.
     96-109: Missing.
Isoform 8 (identifier: Q8WYA1-8)

Also known as: MOP9 short form;

The sequence of this isoform differs from the canonical sequence as follows:
     1-37: Missing.
     61-61: Q → H
     62-74: Missing.
     96-109: Missing.
Note: No experimental confirmation available.
Isoform 9 (identifier: Q8WYA1-9)

The sequence of this isoform differs from the canonical sequence as follows:
     11-11: G → GEVAGGEATAPG
     62-95: Missing.
     96-109: Missing.
     556-635: MSNKELFPPS...PGDFSDIQWT → VMVHSWISMPYVTMMTQPWLH
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 636636Aryl hydrocarbon receptor nuclear translocator-like protein 2
PRO_0000273631

Regions

Domain107 – 16054bHLH
Domain178 – 25073PAS 1
Domain357 – 42771PAS 2
Domain432 – 47544PAC

Natural variations

Alternative sequence1 – 3737Missing in isoform 6, isoform 7 and isoform 8.
VSP_022580
Alternative sequence111G → GEVAGGEATAPG in isoform 3 and isoform 9.
VSP_022585
Alternative sequence611Q → H in isoform 8.
VSP_022582
Alternative sequence62 – 9534Missing in isoform 3, isoform 4, isoform 5, isoform 6 and isoform 9.
VSP_022581
Alternative sequence62 – 7413Missing in isoform 8.
VSP_022583
Alternative sequence96 – 10914Missing in isoform 2, isoform 3, isoform 4, isoform 6, isoform 7, isoform 8 and isoform 9.
VSP_022584
Alternative sequence556 – 63580MSNKE…DIQWT → VMVHSWISMPYVTMMTQPWL H in isoform 9.
VSP_044773
Natural variant3401N → S.
Corresponds to variant rs1037921 [ dbSNP | Ensembl ].
VAR_030158
Natural variant5741A → V.
Corresponds to variant rs11049005 [ dbSNP | Ensembl ].
VAR_030159

Experimental info

Sequence conflict411F → S Ref.1
Sequence conflict1731R → G in BAH12415. Ref.5
Sequence conflict2571A → T Ref.3
Sequence conflict2761S → F Ref.3
Sequence conflict3041K → R in BAH12415. Ref.5
Sequence conflict3241P → R Ref.1
Sequence conflict5271L → I Ref.1

Secondary structure

.......................... 636
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (BMAL2a) [UniParc].

Last modified January 23, 2007. Version 2.
Checksum: 972CE2BC5B05B1F3

FASTA63670,887
        10         20         30         40         50         60 
MAAEEEAAAG GKVLREENQC IAPVVSSRVS PGTRPTAMGS FSSHMTEFPR KRKGSDSDPS 

        70         80         90        100        110        120 
QSGIMTEKVV EKLSQNPLTY LLSTRIEISA SSGSRVEDGE HQVKMKAFRE AHSQTEKRRR 

       130        140        150        160        170        180 
DKMNNLIEEL SAMIPQCNPM ARKLDKLTVL RMAVQHLRSL KGLTNSYVGS NYRPSFLQDN 

       190        200        210        220        230        240 
ELRHLILKTA EGFLFVVGCE RGKILFVSKS VSKILNYDQA SLTGQSLFDF LHPKDVAKVK 

       250        260        270        280        290        300 
EQLSSFDISP REKLIDAKTG LQVHSNLHAG RTRVYSGSRR SFFCRIKSCK ISVKEEHGCL 

       310        320        330        340        350        360 
PNSKKKEHRK FYTIHCTGYL RSWPPNIVGM EEERNSKKDN SNFTCLVAIG RLQPYIVPQN 

       370        380        390        400        410        420 
SGEINVKPTE FITRFAVNGK FVYVDQRATA ILGYLPQELL GTSCYEYFHQ DDHNNLTDKH 

       430        440        450        460        470        480 
KAVLQSKEKI LTDSYKFRAK DGSFVTLKSQ WFSFTNPWTK ELEYIVSVNT LVLGHSEPGE 

       490        500        510        520        530        540 
ASFLPCSSQS SEESSRQSCM SVPGMSTGTV LGAGSIGTDI ANEILDLQRL QSSSYLDDSS 

       550        560        570        580        590        600 
PTGLMKDTHT VNCRSMSNKE LFPPSPSEMG ELEATRQNQS TVAVHSHEPL LSDGAQLDFD 

       610        620        630 
ALCDNDDTAM AAFMNYLEAE GGLGDPGDFS DIQWTL 

« Hide

Isoform 2 (BMAL2b) [UniParc].

Checksum: EE042DBFFB87BC63
Show »

FASTA62269,231
Isoform 3 (BMAL2c) [UniParc].

Checksum: A5B1B84DBC4B5B40
Show »

FASTA59966,493
Isoform 4 (BMAL2d) [UniParc].

Checksum: 3D49ACC111064FD8
Show »

FASTA58865,553
Isoform 5 (CLIF) [UniParc].

Checksum: AD8937DD526D8B45
Show »

FASTA60267,209
Isoform 6 [UniParc].

Checksum: F845E3F54FFA39B0
Show »

FASTA55161,788
Isoform 7 (MOP9 long form) [UniParc].

Checksum: EE2E576065881B01
Show »

FASTA58565,466
Isoform 8 (MOP9 short form) [UniParc].

Checksum: FDDF781F6E2FDBC5
Show »

FASTA57264,072
Isoform 9 [UniParc].

Checksum: 9C6DF2CB4CE1BB8A
Show »

FASTA54060,390

References

« Hide 'large scale' references
[1]"cDNA cloning of a novel bHLH-PAS transcription factor superfamily gene, BMAL2; Its mRNA expression, subcellular distribution, and chromosomal localization."
Ikeda M., Yu W., Hirai M., Ebisawa T., Honma S., Yoshimura K., Honma K., Nomura M.
Biochem. Biophys. Res. Commun. 275:493-502(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 6), SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
Tissue: Brain.
[2]"CLIF, a novel cycle-like factor, regulates the circadian oscillation of plasminogen activator inhibitor-1 gene expression."
Maemura K., de La Monte S.M., Chin M.T., Layne M.D., Hsieh C.-M., Yet S.-F., Perrella M.A., Lee M.-E.
J. Biol. Chem. 275:36847-36851(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 5), FUNCTION, INDUCTION, TISSUE SPECIFICITY, INTERACTION WITH CLOCK.
Tissue: Umbilical vein endothelial cell.
[3]"The basic helix-loop-helix-PAS protein MOP9 is a brain-specific heterodimeric partner of circadian and hypoxia factors."
Hogenesch J.B., Gu Y.-Z., Moran S.M., Shimomura K., Radcliffe L.A., Takahashi J.S., Bradfield C.A.
J. Neurosci. 20:RC83-RC83(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7 AND 8), TISSUE SPECIFICITY, INTERACTION WITH CLOCK; NPAS2 AND HIF1A.
Tissue: Brain.
[4]"Chicken pineal clock genes: implication of BMAL2 as a bidirectional regulator in circadian clock oscillation."
Okano T., Yamamoto K., Okano K., Hirota T., Kasahara T., Sasaki M., Takanaka Y., Fukada Y.
Genes Cells 6:825-836(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3 AND 4).
Tissue: Embryonic kidney.
[5]"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] (ISOFORM 9).
Tissue: Tongue.
[6]"The finished DNA sequence of human chromosome 12."
Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R. expand/collapse author list , Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.
Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
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] (ISOFORMS 3; 4 AND 5).
Tissue: Placenta.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB039921 mRNA. Translation: BAB01485.1.
AF256215 mRNA. Translation: AAG34652.1.
AF231338 mRNA. Translation: AAF71306.1.
AF231339 mRNA. Translation: AAF71307.1.
AF246960 mRNA. Translation: AAL50339.1.
AF246961 mRNA. Translation: AAL50340.1.
AF246962 mRNA. Translation: AAL50341.1.
AF246963 mRNA. Translation: AAL50342.1.
AK296706 mRNA. Translation: BAH12415.1.
AC068794 Genomic DNA. No translation available.
AC092829 Genomic DNA. No translation available.
BC000172 mRNA. Translation: AAH00172.3.
BC125061 mRNA. Translation: AAI25062.1.
BC125062 mRNA. Translation: AAI25063.1.
IPIIPI00142781.
IPI00163662.
IPI00465306.
IPI00788724.
IPI00789255.
IPI00795339.
IPI00827866.
IPI00827897.
IPI01009213.
RefSeqNP_001234931.1. NM_001248002.1.
NP_001234932.1. NM_001248003.1.
NP_001234933.1. NM_001248004.1.
NP_001234934.1. NM_001248005.1.
NP_064568.3. NM_020183.4.
UniGeneHs.434269.
Hs.445447.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
2KDKNMR-A360-477[»]
ProteinModelPortalQ8WYA1.
ModBaseSearch...

Protein-protein interaction databases

IntActQ8WYA1. 3 interactions.

PTM databases

PhosphoSiteQ8WYA1.

Polymorphism databases

DMDM124007121.

Proteomic databases

PaxDbQ8WYA1.
PRIDEQ8WYA1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000261178; ENSP00000261178; ENSG00000029153.
ENST00000266503; ENSP00000266503; ENSG00000029153.
ENST00000311001; ENSP00000312247; ENSG00000029153.
ENST00000395901; ENSP00000379238; ENSG00000029153.
ENST00000542388; ENSP00000445836; ENSG00000029153.
ENST00000544915; ENSP00000442438; ENSG00000029153.
ENST00000546179; ENSP00000438545; ENSG00000029153.
GeneID56938.
KEGGhsa:56938.
UCSCuc001rht.2. human.
uc001rhu.2. human.
uc001rhv.2. human.
uc001rhw.3. human.
uc009zji.2. human.
uc010sjp.2. human.

Organism-specific databases

CTD56938.
GeneCardsGC12P027485.
H-InvDBHIX0037110.
HGNCHGNC:18984. ARNTL2.
MIM614517. gene.
neXtProtNX_Q8WYA1.
PharmGKBPA134896555.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG288887.
HOVERGENHBG107503.
InParanoidQ8WYA1.
KOK09099.
OMAIPQCNPM.
PhylomeDBQ8WYA1.

Gene expression databases

ArrayExpressQ8WYA1.
BgeeQ8WYA1.
CleanExHS_ARNTL2.
GenevestigatorQ8WYA1.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
IPR001067. Nuc_translocat.
IPR001610. PAC.
IPR000014. PAS.
IPR013767. PAS_fold.
IPR013655. PAS_fold_3.
[Graphical view]
PfamPF00010. HLH. 1 hit.
PF00989. PAS. 1 hit.
PF08447. PAS_3. 1 hit.
[Graphical view]
PRINTSPR00785. NCTRNSLOCATR.
SMARTSM00353. HLH. 1 hit.
SM00086. PAC. 1 hit.
SM00091. PAS. 2 hits.
[Graphical view]
SUPFAMSSF47459. HLH_basic. 1 hit.
SSF55785. SSF55785. 2 hits.
TIGRFAMsTIGR00229. sensory_box. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
PS50113. PAC. False negative.
PS50112. PAS. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi56938.
NextBio62501.
SOURCESearch...

Entry information

Entry nameBMAL2_HUMAN
AccessionPrimary (citable) accession number: Q8WYA1
Secondary accession number(s): B7Z429 expand/collapse secondary AC list , F5H402, Q8WYA2, Q8WYA3, Q8WYA4, Q96J63, Q9H2M4, Q9NS70, Q9NYQ4, Q9NYQ5
Entry history
Integrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: January 23, 2007
Last modified: May 29, 2013
This is version 100 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

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families