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Q92908 (GATA6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 120. 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·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Transcription factor GATA-6
Alternative name(s):
GATA-binding factor 6
Gene names
Name:GATA6
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length595 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Transcriptional activator that regulates SEMA3C and PLXNA2. Thought to be important for regulating terminal differentiation and/or proliferation. Ref.10

Subunit structure

Interacts with LMCD1 By similarity.

Subcellular location

Nucleus Ref.10.

Tissue specificity

Expressed in heart, gut and gut-derived tissues.

Domain

The GATA-type zinc fingers mediate interaction with LMCD1 By similarity.

Involvement in disease

Conotruncal heart malformations (CTHM) [MIM:217095]: A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Note: The disease is caused by mutations affecting the gene represented in this entry. GATA6 mutations have been found in patients with non-syndromic persistent truncus arteriosus (Ref.10). Ref.10

Atrial septal defect 9 (ASD9) [MIM:614475]: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria. Some patients manifest tricuspid valve disease, pulmonary valve disease, and pulmonary artery hypertension.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12

Tetralogy of Fallot (TOF) [MIM:187500]: A congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing cyanosis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.13

Atrioventricular septal defect 5 (AVSD5) [MIM:614474]: A congenital heart malformation characterized by a common atrioventricular junction coexisting with deficient atrioventricular septation. The complete form involves underdevelopment of the lower part of the atrial septum and the upper part of the ventricular septum; the valve itself is also shared. A less severe form, known as ostium primum atrial septal defect, is characterized by separate atrioventricular valvar orifices despite a common junction.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.13

Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001]: An autosomal dominant disease characterized by pancreatic severe hypoplasia or agenesis, diabetes mellitus, and congenital heart abnormalities including ventricular septal defect, patent ductus arteriosus, pulmonary artery stenosis, truncus arteriosus and tetralogy of Fallot.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.14

Sequence similarities

Contains 2 GATA-type zinc fingers.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative initiation
Polymorphism
   DiseaseAtrial septal defect
Disease mutation
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
Zinc
   Molecular functionActivator
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processClara cell differentiation

Inferred from electronic annotation. Source: Ensembl

Type II pneumocyte differentiation

Inferred from electronic annotation. Source: Ensembl

blood coagulation

Traceable author statement. Source: Reactome

cardiac muscle cell differentiation

Inferred from electronic annotation. Source: Ensembl

cardiac muscle hypertrophy in response to stress

Inferred from electronic annotation. Source: Ensembl

cardiac vascular smooth muscle cell differentiation

Inferred from mutant phenotype PubMed 11889139PubMed 12615657. Source: UniProtKB

cellular response to BMP stimulus

Inferred from electronic annotation. Source: Ensembl

cellular response to gonadotropin stimulus

Inferred from electronic annotation. Source: Ensembl

cellular response to hypoxia

Inferred from direct assay PubMed 21127043. Source: UniProtKB

endodermal cell fate determination

Inferred from electronic annotation. Source: Ensembl

in utero embryonic development

Inferred from electronic annotation. Source: Ensembl

intestinal epithelial cell differentiation

Inferred from direct assay PubMed 9566909. Source: MGI

liver development

Inferred from electronic annotation. Source: Ensembl

lung saccule development

Inferred from electronic annotation. Source: Ensembl

male gonad development

Inferred from expression pattern PubMed 17848411. Source: UniProtKB

negative regulation of apoptotic process

Inferred from mutant phenotype PubMed 21127043. Source: UniProtKB

negative regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 18177748. Source: UniProtKB

negative regulation of transcription, DNA-templated

Inferred from direct assay PubMed 18177748. Source: UniProtKB

negative regulation of transforming growth factor beta1 production

Inferred from mutant phenotype PubMed 21127043. Source: UniProtKB

negative regulation of transforming growth factor beta2 production

Inferred from mutant phenotype PubMed 21127043. Source: UniProtKB

organ formation

Inferred from electronic annotation. Source: Ensembl

outflow tract septum morphogenesis

Inferred from mutant phenotype Ref.10. Source: BHF-UCL

pancreatic A cell differentiation

Inferred from electronic annotation. Source: Ensembl

phospholipid metabolic process

Inferred from electronic annotation. Source: Ensembl

positive regulation of angiogenesis

Inferred from direct assay PubMed 21127043. Source: UniProtKB

positive regulation of cardiac muscle cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of cardioblast differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell cycle arrest

Inferred from direct assay PubMed 9593712. Source: UniProtKB

positive regulation of transcription from RNA polymerase II promoter

Inferred from direct assay PubMed 19497978PubMed 19497978. Source: UniProtKB

response to drug

Inferred from mutant phenotype PubMed 18671946. Source: UniProtKB

response to estrogen

Inferred from electronic annotation. Source: Ensembl

response to growth factor

Inferred from direct assay PubMed 21127043. Source: UniProtKB

smooth muscle cell differentiation

Inferred from mutant phenotype PubMed 17626241. Source: UniProtKB

transcription from RNA polymerase II promoter

Inferred from direct assay Ref.10. Source: BHF-UCL

tube morphogenesis

Inferred from electronic annotation. Source: Ensembl

type B pancreatic cell differentiation

Inferred from electronic annotation. Source: Ensembl

   Cellular_componentnucleoplasm

Traceable author statement. Source: Reactome

nucleus

Inferred from direct assay PubMed 17785913PubMed 20206639PubMed 21127043PubMed 9593712. Source: UniProtKB

transcription factor complex

Inferred from electronic annotation. Source: Ensembl

   Molecular_functionRNA polymerase II core promoter sequence-specific DNA binding

Inferred from electronic annotation. Source: Ensembl

RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: Ensembl

chromatin binding

Inferred from electronic annotation. Source: Ensembl

protein kinase binding

Inferred from physical interaction PubMed 20864106. Source: UniProtKB

sequence-specific DNA binding RNA polymerase II transcription factor activity

Inferred from mutant phenotype PubMed 21127043. Source: UniProtKB

sequence-specific DNA binding transcription factor activity

Inferred from direct assay Ref.10. Source: BHF-UCL

transcription factor binding

Inferred from physical interaction PubMed 14988427. Source: UniProtKB

transcription regulatory region DNA binding

Inferred from direct assay PubMed 18177748PubMed 20206639. Source: UniProtKB

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative initiation. [Align] [Select]
Isoform 1 (identifier: Q92908-1)

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: Q92908-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.
Note: Produced by alternative initiation at Met-147 of isoform 1.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 595595Transcription factor GATA-6
PRO_0000083423

Regions

Zinc finger390 – 41425GATA-type 1
Zinc finger444 – 46825GATA-type 2
Compositional bias173 – 18311Poly-Ala
Compositional bias324 – 33310Poly-His
Compositional bias449 – 4535Poly-Thr

Amino acid modifications

Modified residue2681Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 146146Missing in isoform 2.
VSP_035778
Natural variant151G → R. Ref.10 Ref.12 Ref.13
Corresponds to variant rs116262672 [ dbSNP | Ensembl ].
VAR_067380
Natural variant1781A → V in AVSD5; increased transcriptional activity. Ref.13
VAR_067381
Natural variant1841S → N in ASD9 and TOF; loss of transcriptional activity. Ref.12
VAR_067382
Natural variant1981L → V in TOF; uncertain pathological significance; does not affect transcriptional activity. Ref.13
VAR_067383
Natural variant4521T → A in PACHD. Ref.14
VAR_067384
Natural variant4561R → C in PACHD; loss of transcriptional activity. Ref.14
VAR_067385
Natural variant4561R → H in PACHD. Ref.14
VAR_067386
Natural variant4661N → D in PACHD; loss of transcriptional activity. Ref.14
VAR_067387
Natural variant4661N → H in CTHM; persistent truncus arteriosus; loss of transcriptional activity. Ref.10
VAR_067388
Natural variant4671A → T in PACHD; loss of transcriptional activity. Ref.14
VAR_067389
Natural variant4731K → Q in PACHD; loss of transcriptional activity. Ref.14
VAR_067390

Experimental info

Sequence conflict2811G → V in CAA64997. Ref.2

Sequences

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

Last modified November 25, 2008. Version 2.
Checksum: C4D5410916543E0B

FASTA59560,033
        10         20         30         40         50         60 
MALTDGGWCL PKRFGAAGAD ASDSRAFPAR EPSTPPSPIS SSSSSCSRGG ERGPGGASNC 

        70         80         90        100        110        120 
GTPQLDTEAA AGPPARSLLL SSYASHPFGA PHGPSAPGVA GPGGNLSSWE DLLLFTDLDQ 

       130        140        150        160        170        180 
AATASKLLWS SRGAKLSPFA PEQPEEMYQT LAALSSQGPA AYDGAPGGFV HSAAAAAAAA 

       190        200        210        220        230        240 
AAASSPVYVP TTRVGSMLPG LPYHLQGSGS GPANHAGGAG AHPGWPQASA DSPPYGSGGG 

       250        260        270        280        290        300 
AAGGGAAGPG GAGSAAAHVS ARFPYSPSPP MANGAAREPG GYAAAGSGGA GGVSGGGSSL 

       310        320        330        340        350        360 
AAMGGREPQY SSLSAARPLN GTYHHHHHHH HHHPSPYSPY VGAPLTPAWP AGPFETPVLH 

       370        380        390        400        410        420 
SLQSRAGAPL PVPRGPSADL LEDLSESREC VNCGSIQTPL WRRDGTGHYL CNACGLYSKM 

       430        440        450        460        470        480 
NGLSRPLIKP QKRVPSSRRL GLSCANCHTT TTTLWRRNAE GEPVCNACGL YMKLHGVPRP 

       490        500        510        520        530        540 
LAMKKEGIQT RKRKPKNINK SKTCSGNSNN SIPMTPTSTS SNSDDCSKNT SPTTQPTASG 

       550        560        570        580        590 
AGAPVMTGAG ESTNPENSEL KYSGQDGLYI GVSLASPAEV TSSVRPDSWC ALALA 

« Hide

Isoform 2 [UniParc].

Checksum: 2A0C294757CC2E92
Show »

FASTA44945,386

References

« Hide 'large scale' references
[1]"The human GATA-6 gene: structure, chromosomal location, and regulation of expression by tissue-specific and mitogen-responsive signals."
Suzuki E., Evans T., Lowry J., Truong L., Bell D.W., Testa J.R., Walsh K.
Genomics 38:283-290(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[2]"Molecular cloning of human GATA-6 DNA binding protein: high levels of expression in heart and gut."
Huggon I.C., Davies A., Gove C., Moscoso G., Moniz C., Foss Y., Farzaneh F., Towner P.
Biochim. Biophys. Acta 1353:98-102(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
Tissue: Heart.
[3]"GATA-6 DNA binding protein expressed in human gastric adenocarcinoma MKN45 cells."
Yoshida T., Sato R., Mahmood S., Kawasaki S., Futai M., Maeda M.
FEBS Lett. 414:333-337(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]NHLBI resequencing and genotyping service (RS&G)
Submitted (DEC-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(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].
[7]"The human and mouse GATA-6 genes utilize two promoters and two initiation codons."
Brewer A., Gove C., Davies A., McNulty C., Barrow D., Koutsourakis M., Farzaneh F., Pizzey J., Bomford A., Patient R.
J. Biol. Chem. 274:38004-38016(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE INITIATION.
[8]"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 SER-268, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[9]"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]"GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling."
Kodo K., Nishizawa T., Furutani M., Arai S., Yamamura E., Joo K., Takahashi T., Matsuoka R., Yamagishi H.
Proc. Natl. Acad. Sci. U.S.A. 106:13933-13938(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, VARIANT CTHM HIS-466, VARIANT ARG-15, CHARACTERIZATION OF VARIANT CTHM HIS-466.
[11]"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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect."
Lin X., Huo Z., Liu X., Zhang Y., Li L., Zhao H., Yan B., Liu Y., Yang Y., Chen Y.H.
J. Hum. Genet. 55:662-667(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ASD9 ASN-184, VARIANT TOF ASN-184, CHARACTERIZATION OF VARIANT ASD9 ASN-184, VARIANT ARG-15.
[13]"Identification of GATA6 sequence variants in patients with congenital heart defects."
Maitra M., Koenig S.N., Srivastava D., Garg V.
Pediatr. Res. 68:281-285(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ARG-15, VARIANT AVSD5 VAL-178, VARIANT TOF VAL-198, CHARACTERIZATION OF VARIANT AVSD5 VAL-178, CHARACTERIZATION OF VARIANT TOF VAL-198.
[14]"GATA6 haploinsufficiency causes pancreatic agenesis in humans."
Allen H.L., Flanagan S.E., Shaw-Smith C., De Franco E., Akerman I., Caswell R., Ferrer J., Hattersley A.T., Ellard S.
Nat. Genet. 44:20-22(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PACHD ALA-452; CYS-456; HIS-456; ASP-466; THR-467 AND GLN-473, CHARACTERIZATION OF VARIANTS PACHD CYS-456; ASP-466; THR-467 AND GLN-473.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U66075 mRNA. Translation: AAC50941.1.
X95701 mRNA. Translation: CAA64997.1.
D87811 mRNA. Translation: BAA22621.1.
EF444980 Genomic DNA. Translation: ACA05995.1.
AC091588 Genomic DNA. No translation available.
CH471088 Genomic DNA. Translation: EAX01137.1.
RefSeqNP_005248.2. NM_005257.4.
XP_005258305.1. XM_005258248.2.
UniGeneHs.514746.
Hs.741506.

3D structure databases

ProteinModelPortalQ92908.
SMRQ92908. Positions 386-494.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108897. 5 interactions.
IntActQ92908. 3 interactions.
MINTMINT-3379576.
STRING9606.ENSP00000269216.

PTM databases

PhosphoSiteQ92908.

Polymorphism databases

DMDM215273987.

Proteomic databases

PaxDbQ92908.
PRIDEQ92908.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269216; ENSP00000269216; ENSG00000141448. [Q92908-1]
ENST00000581694; ENSP00000462313; ENSG00000141448. [Q92908-1]
GeneID2627.
KEGGhsa:2627.
UCSCuc002ktt.2. human. [Q92908-1]

Organism-specific databases

CTD2627.
GeneCardsGC18P019749.
H-InvDBHIX0039732.
HGNCHGNC:4174. GATA6.
HPACAB011581.
MIM187500. phenotype.
217095. phenotype.
600001. phenotype.
601656. gene.
614474. phenotype.
614475. phenotype.
neXtProtNX_Q92908.
Orphanet99103. Atrial septal defect, ostium secundum type.
1329. Complete atrioventricular canal.
334. Familial atrial fibrillation.
2255. Pancreatic hypoplasia - diabetes - congenital heart disease.
1330. Partial atrioventricular canal.
3303. Tetralogy of Fallot.
PharmGKBPA28589.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5641.
HOGENOMHOG000047700.
HOVERGENHBG051703.
InParanoidQ92908.
KOK17897.
OMAGAHPGWP.
OrthoDBEOG7CCBRF.
PhylomeDBQ92908.
TreeFamTF315391.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.
SignaLinkQ92908.

Gene expression databases

ArrayExpressQ92908.
BgeeQ92908.
CleanExHS_GATA6.
GenevestigatorQ92908.

Family and domain databases

Gene3D3.30.50.10. 2 hits.
InterProIPR008013. GATA_N.
IPR028437. TF_GATA_6.
IPR000679. Znf_GATA.
IPR013088. Znf_NHR/GATA.
[Graphical view]
PANTHERPTHR10071:SF23. PTHR10071:SF23. 1 hit.
PfamPF00320. GATA. 2 hits.
PF05349. GATA-N. 1 hit.
[Graphical view]
PRINTSPR00619. GATAZNFINGER.
SMARTSM00401. ZnF_GATA. 2 hits.
[Graphical view]
PROSITEPS00344. GATA_ZN_FINGER_1. 2 hits.
PS50114. GATA_ZN_FINGER_2. 2 hits.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiGATA6.
GenomeRNAi2627.
NextBio10349.
PROQ92908.
SOURCESearch...

Entry information

Entry nameGATA6_HUMAN
AccessionPrimary (citable) accession number: Q92908
Secondary accession number(s): B0YJ17, P78327
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 25, 2008
Last modified: April 16, 2014
This is version 120 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 18

Human chromosome 18: entries, gene names and cross-references to MIM