Q86Y56 (HEAT2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
HEAT repeat-containing protein 2

Gene names

Name:

HEATR2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	855 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Subcellular location	Cytoplasm. Note: Observed only in the cytoplasm of ciliated airway epithelial cells. Absent from cilia. Ref.7
Involvement in disease	Primary ciliary dyskinesia 18 (CILD18) [MIM:614874]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7
Sequence similarities	Contains 10 HEAT repeats.
Sequence caution	The sequence AAH10850.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Disease mutation Primary ciliary dyskinesia
Domain	Repeat
Technical term	Complete proteome Direct protein sequencing Reference proteome
Gene Ontology (GO)
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q86Y56-1)

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: Q86Y56-2)

The sequence of this isoform differs from the canonical sequence as follows:
     811-855: EVLKEGSGLF...QHVQAVPATQ → DVPGSPSPSAMIGSFLRPPHPWRTVSQLNLFSS

Note: No experimental confirmation available.

Isoform 3 (identifier: Q86Y56-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-620: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 855	855	HEAT repeat-containing protein 2		PRO_0000050820
Regions
	Repeat	71 – 109	39	HEAT 1
	Repeat	202 – 240	39	HEAT 2
	Repeat	241 – 278	38	HEAT 3
	Repeat	280 – 318	39	HEAT 4
	Repeat	354 – 376	23	HEAT 5
	Repeat	377 – 414	38	HEAT 6
	Repeat	599 – 638	40	HEAT 7
	Repeat	696 – 734	39	HEAT 8
	Repeat	738 – 776	39	HEAT 9
	Repeat	784 – 822	39	HEAT 10
Natural variations
	Alternative sequence	1 – 620	620	Missing in isoform 3.		VSP_016109
	Alternative sequence	811 – 855	45	EVLKE…VPATQ → DVPGSPSPSAMIGSFLRPPH PWRTVSQLNLFSS in isoform 2.		VSP_016110
	Natural variant	560	1	R → C. Corresponds to variant rs73258248 [ dbSNP | Ensembl ].		VAR_060463
	Natural variant	632	1	V → A. Corresponds to variant rs4720951 [ dbSNP | Ensembl ].		VAR_056911
	Natural variant	743	1	R → K. Ref.1 Ref.3 Ref.5 Corresponds to variant rs3922641 [ dbSNP | Ensembl ].		VAR_060464
	Natural variant	795	1	L → P in CILD18. Ref.7		VAR_068969
Experimental info
	Sequence conflict	128	1	P → H in AAH47240. Ref.3
	Sequence conflict	419 – 421	3	SCT → TSS in AAH10850. Ref.3
	Sequence conflict	454	1	L → M in AAH47240. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 4. Checksum: D1ED73FAEAC8F54C	FASTA	855	93,521
	10 20 30 40 50 60 MAALGVAEAV AAPHPAEGAE TAEAVELSRA LSRLLPGLEA DSKPGRRRAL EALRRALEEP 70 80 90 100 110 120 GPAADPTAFQ GPWARLLLPR LLRCLSDPAE GCRALAVHLL DLGLRRAARP RDALPRLLPA 130 140 150 160 170 180 LAARLAGPVP ARRPPEACEE LRLALVQLLG LAVDLCGAAL APHLDDALRA LRCSLLDPFA 190 200 210 220 230 240 AVRRESCSCA AALAQATPDH FHMQSESLIG PLMQTISHQH WKVRVAAIEA TGAVIHFGNG 250 260 270 280 290 300 KSVDDVLSHF AQRLFDDVPQ VRRAVASVVG GWLLCLRDRY SFFHKLIPLL LSSLNDEVPE 310 320 330 340 350 360 VRQLAASLWE DVGLQWQKEN EEDLKDKLDF APPTPPHYPP HERRPVLGCR ELVFRNLSKI 370 380 390 400 410 420 LPALCHDITD WVVGTRVKSA QLLPVLLLHA EDHATQHLEV VLRTLFQACT DEEAAVVQSC 430 440 450 460 470 480 TRSAELVGTF VSPEVFLKLI LSTLKKTPSA SGLLVLASAM RGCPREALQP HLAAIATELA 490 500 510 520 530 540 QAHICQASEN DLYLERLLLC VQALVSVCHE DCGVASLQLL DVLLTIVALA GATGLRDKAQ 550 560 570 580 590 600 ETMDSLAMVE GVSSCQDLYR KHIGPLLERV TASHLDWTAH SPELLQFSVI VAQSGPALGE 610 620 630 640 650 660 ALPHVVPTLR ACLQPSQDPQ MRLKLFSILS TVLLRATDTI NSQGQFPSYL ETVTKDILAP 670 680 690 700 710 720 NLQWHAGRTA AAIRTAAVSC LWALTSSEVL SAEQIRDVQE TLMPQVLTTL EEDSKMTRLI 730 740 750 760 770 780 SCRIINTFLK TSGGMTDPEK LIRIYPELLK RLDDVSNDVR MAAASTLVTW LQCVKGANAK 790 800 810 820 830 840 SYYQSSVQYL YRELLVHLDD PERAIQDAIL EVLKEGSGLF PDLLVRETEA VIHKHRSATY 850 CEQLLQHVQA VPATQ
	Isoform 2 [UniParc]. Checksum: 2C9D9B186A452568	FASTA	843	92,044
	10 20 30 40 50 60 MAALGVAEAV AAPHPAEGAE TAEAVELSRA LSRLLPGLEA DSKPGRRRAL EALRRALEEP 70 80 90 100 110 120 GPAADPTAFQ GPWARLLLPR LLRCLSDPAE GCRALAVHLL DLGLRRAARP RDALPRLLPA 130 140 150 160 170 180 LAARLAGPVP ARRPPEACEE LRLALVQLLG LAVDLCGAAL APHLDDALRA LRCSLLDPFA 190 200 210 220 230 240 AVRRESCSCA AALAQATPDH FHMQSESLIG PLMQTISHQH WKVRVAAIEA TGAVIHFGNG 250 260 270 280 290 300 KSVDDVLSHF AQRLFDDVPQ VRRAVASVVG GWLLCLRDRY SFFHKLIPLL LSSLNDEVPE 310 320 330 340 350 360 VRQLAASLWE DVGLQWQKEN EEDLKDKLDF APPTPPHYPP HERRPVLGCR ELVFRNLSKI 370 380 390 400 410 420 LPALCHDITD WVVGTRVKSA QLLPVLLLHA EDHATQHLEV VLRTLFQACT DEEAAVVQSC 430 440 450 460 470 480 TRSAELVGTF VSPEVFLKLI LSTLKKTPSA SGLLVLASAM RGCPREALQP HLAAIATELA 490 500 510 520 530 540 QAHICQASEN DLYLERLLLC VQALVSVCHE DCGVASLQLL DVLLTIVALA GATGLRDKAQ 550 560 570 580 590 600 ETMDSLAMVE GVSSCQDLYR KHIGPLLERV TASHLDWTAH SPELLQFSVI VAQSGPALGE 610 620 630 640 650 660 ALPHVVPTLR ACLQPSQDPQ MRLKLFSILS TVLLRATDTI NSQGQFPSYL ETVTKDILAP 670 680 690 700 710 720 NLQWHAGRTA AAIRTAAVSC LWALTSSEVL SAEQIRDVQE TLMPQVLTTL EEDSKMTRLI 730 740 750 760 770 780 SCRIINTFLK TSGGMTDPEK LIRIYPELLK RLDDVSNDVR MAAASTLVTW LQCVKGANAK 790 800 810 820 830 840 SYYQSSVQYL YRELLVHLDD PERAIQDAIL DVPGSPSPSA MIGSFLRPPH PWRTVSQLNL FSS
	Isoform 3 [UniParc]. Checksum: 4B8A87065D76E953	FASTA	235	26,361
	10 20 30 40 50 60 MRLKLFSILS TVLLRATDTI NSQGQFPSYL ETVTKDILAP NLQWHAGRTA AAIRTAAVSC 70 80 90 100 110 120 LWALTSSEVL SAEQIRDVQE TLMPQVLTTL EEDSKMTRLI SCRIINTFLK TSGGMTDPEK 130 140 150 160 170 180 LIRIYPELLK RLDDVSNDVR MAAASTLVTW LQCVKGANAK SYYQSSVQYL YRELLVHLDD 190 200 210 220 230 PERAIQDAIL EVLKEGSGLF PDLLVRETEA VIHKHRSATY CEQLLQHVQA VPATQ

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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. , 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 3), VARIANT LYS-743. Tissue: Colon carcinoma.
[2]	"The DNA sequence of human chromosome 7." Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K. Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"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), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 422-855 (ISOFORM 2), VARIANT LYS-743. Tissue: Hippocampus and Pancreas.
[4]	Bienvenut W.V. Submitted (JUN-2005) to UniProtKB Cited for: PROTEIN SEQUENCE OF 94-105; 423-438; 625-655 AND 804-814, MASS SPECTROMETRY. Tissue: B-cell lymphoma.
[5]	"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 662-855 (ISOFORMS 1/3), VARIANT LYS-743. Tissue: Melanoma.
[6]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[7]	"Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia." Horani A., Druley T.E., Zariwala M.A., Patel A.C., Levinson B.T., Van Arendonk L.G., Thornton K.C., Giacalone J.C., Albee A.J., Wilson K.S., Turner E.H., Nickerson D.A., Shendure J., Bayly P.V., Leigh M.W., Knowles M.R., Brody S.L., Dutcher S.K., Ferkol T.W. Am. J. Hum. Genet. 91:685-693(2012) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CILD18 PRO-795, SUBCELLULAR LOCATION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK000404 mRNA. Translation: BAA91142.1. AC144411 Genomic DNA. No translation available. BC010850 mRNA. Translation: AAH10850.1. Different initiation. BC047240 mRNA. Translation: AAH47240.1. AL832914 mRNA. Translation: CAH10624.2.
IPI	IPI00242630. IPI00654611. IPI00784196.
RefSeq	NP_060272.3. NM_017802.3.
UniGene	Hs.535896.
3D structure databases
ProteinModelPortal	Q86Y56.
SMR	Q86Y56. Positions 166-235, 745-770.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q86Y56. 2 interactions.
MINT	MINT-1391398.
STRING	9606.ENSP00000297440.
PTM databases
PhosphoSite	Q86Y56.
Polymorphism databases
DMDM	269849689.
Proteomic databases
PaxDb	Q86Y56.
PRIDE	Q86Y56.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000297440; ENSP00000297440; ENSG00000164818. ENST00000313147; ENSP00000321451; ENSG00000164818.
GeneID	54919.
KEGG	hsa:54919.
UCSC	uc003siz.2. human. uc003sjb.2. human.
Organism-specific databases
CTD	54919.
GeneCards	GC07P000732.
H-InvDB	HIX0006405. HIX0200638.
HGNC	HGNC:26013. HEATR2.
HPA	HPA020243.
MIM	614864. gene. 614874. phenotype.
neXtProt	NX_Q86Y56.
PharmGKB	PA145008229.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG29211.
HOGENOM	HOG000007194.
HOVERGEN	HBG079488.
InParanoid	Q86Y56.
OMA	PELLQFS.
OrthoDB	EOG4XD3QM.
Gene expression databases
ArrayExpress	Q86Y56.
Bgee	Q86Y56.
CleanEx	HS_HEATR2.
Genevestigator	Q86Y56.
GermOnline	ENSG00000164818. Homo sapiens.
Family and domain databases
Gene3D	1.25.10.10. 3 hits.
InterPro	IPR011989. ARM-like. IPR016024. ARM-type_fold. IPR000357. HEAT. IPR021133. HEAT_type_2. [Graphical view]
Pfam	PF02985. HEAT. 2 hits. [Graphical view]
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
PROSITE	PS50077. HEAT_REPEAT. 1 hit. [Graphical view]
ProtoNet	Search...
Other
ChiTaRS	HEATR2. human.
GenomeRNAi	54919.
NextBio	57986.
SOURCE	Search...

Entry information

Entry name

HEAT2_HUMAN

Accession

Primary (citable) accession number: Q86Y56
Secondary accession number(s): Q69YL1, Q96FI9, Q9NX75

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 8, 2005
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 96 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.