Gene name:
HFE2 (HJV;RGMC) ;
Protein name:
Hemojuvelin ;
Alternative:
RGM domain family member C ;Hemochromatosis type 2 protein ;
Organism:
Human (Homo sapiens).
General Annotation
Sub Unit:
Interacts with BMP2 and BMP4 (By similarity). Interacts with BMPR1B.
Function:
Member of the repulsive guidance molecule (RGM) family. Involved in iron metabolism. Acts as a bone morphogenetic protein (BMP) coreceptor (By similarity). Enhancement of BMP signaling regulates hepcidin (HAMP) expression and iron metabolism (By similarity). May cooperate with hepcidin to restrict iron absorption in the gut. Could represent the cellular receptor for hepcidin.
Subcellular Location:
Cell membrane
Lipid-anchor
GPI-anchor
Protein Attributes:
50:
MGEPGQSPSP | RSSHGSPPTL | STLTLLLLLC | GHAHSQCKIL | RCNAEYVSST |
100:
LSLRGGGSSG | ALRGGGGGGR | GGGVGSGGLC | RALRSYALCT | RRTARTCRGD |
150:
LAFHSAVHGI | EDLMIQHNCS | RQGPTAPPPP | RGPALPGAGS | GLPAPDPCDY |
200:
EGRFSRLHGR | PPGFLHCASF | GDPHVRSFHH | HFHTCRVQGA | WPLLDNDFLF |
250:
VQATSSPMAL | GANATATRKL | TIIFKNMQEC | IDQKVYQAEV | DNLPVAFEDG |
300:
SINGGDRPGG | SSLSIQTANP | GNHVEIQAAY | IGTTIIIRQT | AGQLSFSIKV |
350:
AEDVAMAFSA | EQDLQLCVGG | CPPSQRLSRS | ERNRRGAITI | DTARRLCKEG |
400:
LPVEDAYFHS | CVFDVLISGD | PNFTVAAQAA | LEDARAFLPD | LEKLHLFPSD |
426:
AGVPLSSATL | LAPLLSGLFV | LWLCIQ
Vaild Sequence:
Related Databases
Uniprot:
ELISA Kit
CLIA Kit
Polyclonal Antibody
Monoclonal Antibody
Protein
FOR
Human
Rat
Mouse
ELISA Kit for Human Hemojuvelin
ELISA Kit for Human Hemojuvelin
ELISA Kit for Human Hemojuvelin
CLIA Kit for Human Hemojuvelin
CLIA Kit for Human Hemojuvelin
CLIA Kit for Human Hemojuvelin
Polyclonal Antibody for Human Hemojuvelin
Polyclonal Antibody for Human Hemojuvelin
Polyclonal Antibody for Human Hemojuvelin
Monoclonal Antibody for Human Hemojuvelin
Monoclonal Antibody for Human Hemojuvelin
Monoclonal Antibody for Human Hemojuvelin
Protein for Human Hemojuvelin
Protein for Human Hemojuvelin
Protein for Human Hemojuvelin
R&D Technical Data
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Precision
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Recovery
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
Linearity
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
References
1.
"Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis."
Papanikolaou G.
,
Samuels M.E.
,
Ludwig E.H.
,
MacDonald M.L.E.
,
Franchini P.L.
,
Dube M.-P.
,
Andres L.
,
MacFarlane J.
,
Sakellaropoulos N.
,
Politou M.
,
Nemeth E.
,
Thompson J.
,
Risler J.K.
,
Zaborowska C.
,
Babakaiff R.
,
Radomski C.C.
,
Pape T.D.
,
Davidas O.
,
Christakis J.
,
Brissot P.
,
Lockitch G.
,
Ganz T.
,
Hayden M.R.
,
Goldberg Y.P.
more...
Nat. Genet.36:77-82(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A);ALTERNATIVE SPLICING;TISSUE SPECIFICITY;VARIANTS HFE2A ASN-222 AND VAL-320
tissue :
Liver .
2.
"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.
more...
Nat. Genet.36:40-45(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS A AND B)
tissue :
Liver .
tissue :
Skeletal muscle .
3.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.
"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G.
,
Barlow K.F.
,
McLay K.E.
,
Kaul R.
,
Swarbreck D.
,
Dunham A.
,
Scott C.E.
,
Howe K.L.
,
Woodfine K.
,
Spencer C.C.A.
,
Jones M.C.
,
Gillson C.
,
Searle S.
,
Zhou Y.
,
Kokocinski F.
,
McDonald L.
,
Evans R.
,
Phillips K.
,
Atkinson A.
,
Cooper R.
,
Jones C.
,
Hall R.E.
,
Andrews T.D.
,
Lloyd C.
,
Ainscough R.
,
Almeida J.P.
,
Ambrose K.D.
,
Anderson F.
,
Andrew R.W.
,
Ashwell R.I.S.
,
Aubin K.
,
Babbage A.K.
,
Bagguley C.L.
,
Bailey J.
,
Beasley H.
,
Bethel G.
,
Bird C.P.
,
Bray-Allen S.
,
Brown J.Y.
,
Brown A.J.
,
Buckley D.
,
Burton J.
,
Bye J.
,
Carder C.
,
Chapman J.C.
,
Clark S.Y.
,
Clarke G.
,
Clee C.
,
Cobley V.
,
Collier R.E.
,
Corby N.
,
Coville G.J.
,
Davies J.
,
Deadman R.
,
Dunn M.
,
Earthrowl M.
,
Ellington A.G.
,
Errington H.
,
Frankish A.
,
Frankland J.
,
French L.
,
Garner P.
,
Garnett J.
,
Gay L.
,
Ghori M.R.J.
,
Gibson R.
,
Gilby L.M.
,
Gillett W.
,
Glithero R.J.
,
Grafham D.V.
,
Griffiths C.
,
Griffiths-Jones S.
,
Grocock R.
,
Hammond S.
,
Harrison E.S.I.
,
Hart E.
,
Haugen E.
,
Heath P.D.
,
Holmes S.
,
Holt K.
,
Howden P.J.
,
Hunt A.R.
,
Hunt S.E.
,
Hunter G.
,
Isherwood J.
,
James R.
,
Johnson C.
,
Johnson D.
,
Joy A.
,
Kay M.
,
Kershaw J.K.
,
Kibukawa M.
,
Kimberley A.M.
,
King A.
,
Knights A.J.
,
Lad H.
,
Laird G.
,
Lawlor S.
,
Leongamornlert D.A.
,
Lloyd D.M.
,
Loveland J.
,
Lovell J.
,
Lush M.J.
,
Lyne R.
,
Martin S.
,
Mashreghi-Mohammadi M.
,
Matthews L.
,
Matthews N.S.W.
,
McLaren S.
,
Milne S.
,
Mistry S.
,
Moore M.J.F.
,
Nickerson T.
,
O'Dell C.N.
,
Oliver K.
,
Palmeiri A.
,
Palmer S.A.
,
Parker A.
,
Patel D.
,
Pearce A.V.
,
Peck A.I.
,
Pelan S.
,
Phelps K.
,
Phillimore B.J.
,
Plumb R.
,
Rajan J.
,
Raymond C.
,
Rouse G.
,
Saenphimmachak C.
,
Sehra H.K.
,
Sheridan E.
,
Shownkeen R.
,
Sims S.
,
Skuce C.D.
,
Smith M.
,
Steward C.
,
Subramanian S.
,
Sycamore N.
,
Tracey A.
,
Tromans A.
,
Van Helmond Z.
,
Wall M.
,
Wallis J.M.
,
White S.
,
Whitehead S.L.
,
Wilkinson J.E.
,
Willey D.L.
,
Williams H.
,
Wilming L.
,
Wray P.W.
,
Wu Z.
,
Coulson A.
,
Vaudin M.
,
Sulston J.E.
,
Durbin R.M.
,
Hubbard T.
,
Wooster R.
,
Dunham I.
,
Carter N.P.
,
McVean G.
,
Ross M.T.
,
Harrow J.
,
Olson M.V.
,
Beck S.
,
Rogers J.
,
Bentley D.R.
more...
Nature441:315-321(2006)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
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.
,
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.
more...
Submitted (2005-07) to the EMBL/GenBank/DDBJ databases
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
6.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS B AND C)
tissue :
PNS .
tissue :
Skeletal muscle .
7.
"Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression."
Babitt J.L.
,
Huang F.W.
,
Wrighting D.M.
,
Xia Y.
,
Sidis Y.
,
Samad T.A.
,
Campagna J.A.
,
Chung R.T.
,
Schneyer A.L.
,
Woolf C.J.
,
Andrews N.C.
,
Lin H.Y.
Nat. Genet.38:531-539(2006)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH BMPR1B
8.
"Molecular mechanisms of the defective hepcidin inhibition in TMPRSS6 mutations associated with iron-refractory iron deficiency anemia."
Silvestri L.
,
Guillem F.
,
Pagani A.
,
Nai A.
,
Oudin C.
,
Silva M.
,
Toutain F.
,
Kannengiesser C.
,
Beaumont C.
,
Camaschella C.
,
Grandchamp B.
Blood113:5605-5608(2009)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : INTERACTION WITH TMPRSS6
9.
"Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis."
Lanzara C.
,
Roetto A.
,
Daraio F.
,
Rivard S.
,
Ficarella R.
,
Simard H.
,
Cox T.M.
,
Cazzola M.
,
Piperno A.
,
Gimenez-Roqueplo A.P.
,
Grammatico P.
,
Volinia S.
,
Gasparini P.
,
Camaschella C.
Blood103:4317-4321(2004)
[
PubMed ]
[
Europe PMC ]
[
Abstract ]
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HFE2A PRO-85; ARG-99; ASP-168; SER-170; GLU-172; CYS-191; ARG-205; VAL-250; TRP-288 AND VAL-320
10.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HFE2A ARG-80; PRO-101; ASN-222 AND VAL-320
11.
[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s)
Cited for : VARIANTS HFE2A VAL-320 AND TRP-321