HBB (hemoglobin subunit beta)
|
| Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
3043 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Hemoglobin subunit beta |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
HBB |
SynonymsGene synonyms aliases
|
CD113t-C, ECYT6, beta-globin |
ChromosomeChromosome number
|
11 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11p15.4 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia |
SNPsSNP information provided by dbSNP.
|
| SNP ID |
Visualize variation |
Clinical significance |
Consequence |
| rs334 |
T>A,C,G |
Protective, pathogenic, other |
Missense variant, coding sequence variant |
| rs1135071 |
C>A,G,T |
Pathogenic, uncertain-significance |
Synonymous variant, missense variant, coding sequence variant |
| rs1141387 |
C>A,G |
Pathogenic |
Missense variant, coding sequence variant |
| rs11549407 |
G>A,C,T |
Uncertain-significance, pathogenic |
Missense variant, stop gained, coding sequence variant |
| rs33910209 |
G>C,T |
Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, other |
Coding sequence variant, missense variant |
| rs33910569 |
T>C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33913413 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Intron variant |
| rs33913712 |
C>A,T |
Pathogenic, uncertain-significance, other |
Coding sequence variant, stop gained, missense variant |
| rs33914668 |
T>C,G |
Pathogenic |
Splice acceptor variant |
| rs33914944 |
C>A,G,R,T |
Pathogenic, uncertain-significance, other |
Coding sequence variant, missense variant, synonymous variant |
| rs33915112 |
T>A,C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33915217 |
C>A,G,T |
Pathogenic, pathogenic-likely-pathogenic |
Intron variant |
| rs33916412 |
A>C,G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33917628 |
C>G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33917785 |
A>C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33918338 |
T>A,C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33918343 |
A>C,G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33921821 |
G>A,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33922842 |
C>A,G,T |
Benign, pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs33922873 |
G>A,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33924146 |
A>C,G |
Pathogenic |
Coding sequence variant, missense variant |
| rs33924775 |
G>A,C,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33925391 |
A>C,G,T |
Uncertain-significance, likely-benign, pathogenic, other, likely-pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, missense variant |
| rs33929459 |
C>A,G,T |
Pathogenic, uncertain-significance, other |
Coding sequence variant, missense variant |
| rs33930165 |
C>G,T |
Pathogenic, protective, other |
Coding sequence variant, missense variant |
| rs33930702 |
C>A,G,T |
Pathogenic |
Missense variant, initiator codon variant |
| rs33931746 |
T>C,G |
Pathogenic, pathogenic-likely-pathogenic |
Upstream transcript variant |
| rs33931779 |
A>G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33933298 |
C>A,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33935673 |
T>C,G |
Uncertain-significance, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, missense variant |
| rs33936254 |
T>A,C,G |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, other, benign |
Coding sequence variant, missense variant |
| rs33937393 |
T>C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33940051 |
T>C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33940204 |
A>C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33941377 |
G>A,C,T |
Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic |
Upstream transcript variant |
| rs33941844 |
A>C,G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33941849 |
A>C,G,T |
Pathogenic, likely-pathogenic |
Missense variant, initiator codon variant |
| rs33943001 |
C>G,T |
Pathogenic |
Splice acceptor variant |
| rs33944208 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Upstream transcript variant |
| rs33945777 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Splice donor variant |
| rs33946267 |
C>A,G,T |
Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity, other |
Coding sequence variant, stop gained, missense variant |
| rs33947020 |
C>A,G,T |
Conflicting-interpretations-of-pathogenicity, other |
Coding sequence variant, missense variant |
| rs33947415 |
C>G,T |
Uncertain-significance, other, pathogenic, not-provided, likely-pathogenic |
Coding sequence variant, missense variant |
| rs33949486 |
C>G,T |
Benign, likely-benign, pathogenic |
Coding sequence variant, missense variant |
| rs33949869 |
A>C,G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33950507 |
C>A,G,T |
Pathogenic, protective, other |
Coding sequence variant, stop gained, missense variant |
| rs33951465 |
A>C,T |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, synonymous variant |
| rs33951978 |
T>A,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33952266 |
C>A,G,T |
Pathogenic |
Splice acceptor variant |
| rs33954264 |
T>A,C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33954595 |
C>A,G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33956879 |
A>C,G,T |
Pathogenic |
Splice donor variant |
| rs33958358 |
C>A,T |
Pathogenic, uncertain-significance, other |
Coding sequence variant, missense variant |
| rs33959340 |
C>A,G,T |
Pathogenic, uncertain-significance, other |
Coding sequence variant, missense variant |
| rs33959855 |
C>A,G,T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, other |
Coding sequence variant, stop gained, missense variant |
| rs33960103 |
C>G,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs33961444 |
G>A,C |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33961886 |
C>A,G,T |
Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity, other, benign |
Coding sequence variant, missense variant |
| rs33962676 |
C>T |
Uncertain-significance, conflicting-interpretations-of-pathogenicity, other |
Coding sequence variant, missense variant |
| rs33965000 |
G>A,C |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33966487 |
C>G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33966761 |
A>C,G,T |
Pathogenic, uncertain-significance, other |
Coding sequence variant, missense variant |
| rs33969677 |
C>A,G,T |
Pathogenic, likely-pathogenic, other |
Coding sequence variant, missense variant |
| rs33969853 |
->T |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs33971048 |
T>A,C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33971440 |
C>A,T |
Pathogenic, pathogenic-likely-pathogenic |
Splice donor variant |
| rs33972047 |
T>C |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33972593 |
A>G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33974936 |
C>A,T |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant, stop gained |
| rs33978338 |
A>C,G,T |
Likely-pathogenic, other |
Coding sequence variant, missense variant |
| rs33978907 |
A>G,T |
Pathogenic, pathogenic-likely-pathogenic |
3 prime UTR variant |
| rs33980857 |
A>C,G,T |
Pathogenic, pathogenic-likely-pathogenic |
Upstream transcript variant |
| rs33981098 |
T>C,G |
Pathogenic |
Upstream transcript variant |
| rs33982568 |
G>A,T |
Pathogenic |
Coding sequence variant, stop gained, synonymous variant |
| rs33983205 |
T>A,C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33983276 |
G>A,C,T |
Pathogenic, uncertain-significance, likely-pathogenic, other |
Coding sequence variant, missense variant |
| rs33985472 |
T>C |
Pathogenic, likely-pathogenic |
3 prime UTR variant |
| rs33986703 |
T>A,C,G |
Pathogenic |
Coding sequence variant, stop gained, missense variant |
| rs33987903 |
T>A,C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33991059 |
C>G,T |
Pathogenic, other |
Coding sequence variant, missense variant, stop gained |
| rs33991472 |
G>C,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33991993 |
C>A,G,R,T |
Pathogenic, other, likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
| rs33993004 |
G>C,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs33994806 |
G>A,C,T |
Pathogenic, likely-pathogenic |
Upstream transcript variant |
| rs33995148 |
T>A,C,G |
Pathogenic, uncertain-significance, other |
Coding sequence variant, stop gained, missense variant |
| rs33999427 |
->TG |
Pathogenic, other |
Coding sequence variant, frameshift variant, stop lost |
| rs34083951 |
G>A,C,T,Y |
Pathogenic |
Coding sequence variant, missense variant, synonymous variant |
| rs34135787 |
G>A,C |
Pathogenic |
5 prime UTR variant |
| rs34160180 |
AAC>- |
Pathogenic |
Coding sequence variant, inframe deletion |
| rs34165323 |
T>C |
Pathogenic, likely-pathogenic |
Coding sequence variant, missense variant |
| rs34218908 |
G>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs34282684 |
AC>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs34305195 |
T>G |
Pathogenic, pathogenic-likely-pathogenic |
5 prime UTR variant |
| rs34378160 |
A>C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs34451549 |
G>A |
Pathogenic |
Intron variant |
| rs34483965 |
G>A,C,T |
Pathogenic, uncertain-significance, likely-pathogenic |
Intron variant |
| rs34484056 |
A>T |
Pathogenic |
Coding sequence variant, missense variant |
| rs34500389 |
G>A,T |
Pathogenic, uncertain-significance |
Upstream transcript variant |
| rs34502690 |
CCT>- |
Pathogenic |
Coding sequence variant, inframe indel |
| rs34515413 |
G>A,C,T,Y |
Likely-benign, other, conflicting-interpretations-of-pathogenicity, pathogenic |
Coding sequence variant, missense variant, synonymous variant |
| rs34527846 |
A>C,G,T |
Pathogenic |
Intron variant |
| rs34533941 |
->CA |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs34563000 |
T>C |
Pathogenic |
Missense variant, initiator codon variant |
| rs34598529 |
T>C |
Pathogenic |
Upstream transcript variant |
| rs34690599 |
G>A,C |
Pathogenic |
Intron variant |
| rs34704828 |
C>A,T |
Pathogenic |
5 prime UTR variant |
| rs34716011 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs34718174 |
C>G,T |
Pathogenic, likely-benign |
Coding sequence variant, missense variant |
| rs34750035 |
TC>- |
Pathogenic |
Intron variant |
| rs34793594 |
A>C |
Pathogenic |
Intron variant |
| rs34809925 |
G>A,C,T |
Pathogenic |
3 prime UTR variant |
| rs34856846 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs34868397 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
| rs34883338 |
G>A |
Pathogenic, uncertain-significance |
Upstream transcript variant |
| rs34889882 |
AG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs34933751 |
G>A,C,T,Y |
Conflicting-interpretations-of-pathogenicity, other |
Coding sequence variant, missense variant, synonymous variant |
| rs34937014 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs34948328 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs34980264 |
C>T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs34999973 |
G>A,C |
Pathogenic, uncertain-significance, likely-pathogenic |
Upstream transcript variant |
| rs35004220 |
C>T |
Pathogenic |
Intron variant |
| rs35020585 |
C>A,G,T |
Pathogenic, not-provided, other |
Coding sequence variant, missense variant, synonymous variant |
| rs35067717 |
G>C |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs35117167 |
T>C |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs35209591 |
C>A,G,T |
Pathogenic, other |
Coding sequence variant, missense variant, synonymous variant |
| rs35225141 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35256489 |
A>G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs35291591 |
A>T |
Pathogenic, other |
Coding sequence variant, stop gained |
| rs35328027 |
A>C,G |
Pathogenic, likely-benign |
Intron variant |
| rs35348864 |
->GCC |
Pathogenic |
Coding sequence variant, splice acceptor variant |
| rs35351128 |
T>G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs35352549 |
A>- |
Pathogenic |
5 prime UTR variant |
| rs35383398 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35395625 |
G>-,GG |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs35424040 |
C>A,G,T |
Pathogenic, likely-pathogenic, other |
Coding sequence variant, missense variant |
| rs35456885 |
A>C,G,T |
Pathogenic, likely-benign, likely-pathogenic |
Intron variant |
| rs35477349 |
->A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35485099 |
G>A,T |
Pathogenic |
Coding sequence variant, missense variant |
| rs35497102 |
TT>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35532010 |
G>-,GG |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs35578002 |
G>A,T |
Pathogenic, likely-benign |
Coding sequence variant, synonymous variant |
| rs35619054 |
->AGAT |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35662066 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35684407 |
T>C,G |
Likely-pathogenic |
Coding sequence variant, missense variant, synonymous variant |
| rs35693898 |
A>G |
Pathogenic |
Coding sequence variant, missense variant |
| rs35699606 |
->C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35703285 |
A>C |
Pathogenic |
Intron variant |
| rs35724775 |
A>G,T |
Pathogenic, uncertain-significance |
Intron variant |
| rs35799536 |
G>A,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs35849199 |
A>C,G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs35890959 |
C>A,G,T |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs35894115 |
->T |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs35949130 |
TTATT>- |
Pathogenic |
3 prime UTR variant |
| rs36015961 |
A>G |
Pathogenic, other |
Coding sequence variant, missense variant |
| rs36107977 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs41417446 |
AAA>- |
Pathogenic |
Coding sequence variant, inframe deletion |
| rs41443947 |
AG>C |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs63749819 |
T>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs63749960 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs63750099 |
TGGGTCC>- |
Pathogenic |
Coding sequence variant, stop gained |
| rs63750128 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs63750205 |
AT>- |
Likely-pathogenic |
3 prime UTR variant |
| rs63750223 |
CAGCCTAAGGGTGGGAAAATAGACC>- |
Pathogenic |
Coding sequence variant, intron variant, splice acceptor variant |
| rs63750283 |
A>C,G,T |
Likely-pathogenic |
Splice donor variant |
| rs63750400 |
C>G,T |
Uncertain-significance, likely-pathogenic |
Upstream transcript variant |
| rs63750475 |
C>- |
Pathogenic |
Frameshift variant, initiator codon variant |
| rs63750513 |
T>C,G |
Pathogenic |
Splice acceptor variant |
| rs63750532 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs63750681 |
C>G |
Pathogenic, uncertain-significance |
Upstream transcript variant |
| rs63750783 |
C>T |
Pathogenic |
Coding sequence variant, stop gained |
| rs63750860 |
CAGC>TGTGG |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs63750953 |
TT>- |
Likely-pathogenic |
Upstream transcript variant |
| rs63750954 |
T>A,C |
Pathogenic |
3 prime UTR variant |
| rs63751076 |
ACCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCA>- |
Pathogenic |
Coding sequence variant, intron variant, splice donor variant |
| rs63751128 |
T>C |
Pathogenic, pathogenic-likely-pathogenic |
3 prime UTR variant |
| rs63751175 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs63751201 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs63751208 |
G>A |
Pathogenic |
Upstream transcript variant |
| rs63751218 |
TCACT>A |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs80356820 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
| rs80356821 |
AGAA>- |
Pathogenic, pathogenic-likely-pathogenic |
Frameshift variant, coding sequence variant |
| rs111645889 |
G>A,T |
Other, likely-pathogenic, conflicting-interpretations-of-pathogenicity |
Missense variant, coding sequence variant |
| rs140033163 |
C>G |
Conflicting-interpretations-of-pathogenicity, benign |
Intron variant |
| rs145669504 |
G>C,T |
Likely-benign, conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs191535077 |
A>T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs193922552 |
TC>AT |
Likely-pathogenic |
Coding sequence variant, missense variant |
| rs193922553 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs193922555 |
C>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs193922563 |
GCCTAAGGGTGGGAAAATAGACCAA>-,GCCTAAGGGTGGGAAAATAGACCAAGCCTAAGGGTGGGAAAATAGACCAA |
Pathogenic |
Splice acceptor variant, coding sequence variant, intron variant |
| rs267607291 |
GG>-,G |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs267607297 |
G>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs281864518 |
G>A |
Likely-pathogenic |
Upstream transcript variant |
| rs281864530 |
A>T |
Pathogenic |
Stop gained, coding sequence variant |
| rs281864581 |
C>A,G |
Pathogenic |
Coding sequence variant, missense variant |
| rs281864901 |
G>- |
Pathogenic, pathogenic-likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs281865475 |
G>- |
Pathogenic, likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs370075492 |
G>A,T |
Likely-pathogenic |
Synonymous variant, coding sequence variant |
| rs558554234 |
G>A |
Likely-benign, pathogenic |
Intron variant |
| rs560643693 |
A>C |
Conflicting-interpretations-of-pathogenicity, benign |
Downstream transcript variant |
| rs762782573 |
C>T |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs769583496 |
G>A |
Conflicting-interpretations-of-pathogenicity |
Coding sequence variant, synonymous variant |
| rs781604042 |
A>G |
Likely-pathogenic |
Intron variant |
| rs1034207896 |
T>C |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1170203019 |
A>- |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
| rs1554917561 |
GTGGGGTG>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554917831 |
T>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554917888 |
->A |
Pathogenic |
Coding sequence variant, stop gained |
| rs1554917935 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1554917947 |
C>- |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554918032 |
CTAAGGGTGGGAAAATA>- |
Pathogenic |
Splice acceptor variant, intron variant |
| rs1554918165 |
->C |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1554918214 |
->G |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1564874813 |
A>- |
Likely-pathogenic |
Splice donor variant |
| rs1564874901 |
->GTGC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1564875128 |
->CATC |
Likely-pathogenic |
Coding sequence variant, frameshift variant |
| rs1564875145 |
AC>- |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1564875331 |
CATAA>TGATGCC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1564875707 |
CCTGTCTTGTAACCTTGATACCAACCTGCCCAGGGCCTCACCACCAACTTCATCCACGTTCACCTTGCCCCACAGGGCAGTAACGGCAGACTTCTCCTCAGGAGTCAGATGCACCATGGTGTCTGTTTGAGGTTGCTAGTGAACACAGTTGTGTCAGAAGCAAATGTAAGCAATAGATGGCTCTGCCCTGACTTTTATGCCCAGCCCTGGCTCCTGCCCTCCCTGCTCCTGGGAGTAGATTGGCCAACCCTAGGG |
Pathogenic |
Initiator codon variant, 5 prime UTR variant, upstream transcript variant, intron variant, splice donor variant |
| rs1589891039 |
CAATGAAAATAAATGTTTTTTATTAGGCAGAATCCAGATGCTCAAGGCCCTTCATAATATCCCCCAGTTTAGTAGTTGGACTTAGGGAACAAAGGAACCTTTAATAGAAATTGGACAGCAAGAAAGCGAGCTTAGTGATACTTGTGGGCCAGGGCATTAGCCACACCAGCCACCACTTTCTGATAGGCAGCCTGCACTGGTGGGGTGAATTCTTTGCCAAAGTGATGGGCCAGCACACAGACCAGCACGTTGCCC |
Pathogenic |
Terminator codon variant, splice acceptor variant, intron variant, 3 prime UTR variant |
| rs1589892417 |
->CCAC |
Pathogenic |
Coding sequence variant, frameshift variant |
| rs1589892882 |
->AGAT |
Pathogenic |
Coding sequence variant, frameshift variant |
|
miRNAmiRNA information provided by mirtarbase database.
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| Transcription factors
|
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
| GO ID |
Ontology |
Definition |
Evidence |
Reference |
| GO:0004601 |
Function |
Peroxidase activity |
IBA |
21873635 |
| GO:0004601 |
Function |
Peroxidase activity |
IDA |
19740759 |
| GO:0005344 |
Function |
Oxygen carrier activity |
IBA |
21873635 |
| GO:0005344 |
Function |
Oxygen carrier activity |
NAS |
1301199, 11747442 |
| GO:0005515 |
Function |
Protein binding |
IPI |
1552945, 6683087, 9441940, 9830011, 9894000, 10390349, 10930828, 11159543, 11724557, 15835899, 16169070, 25502805, 29997244, 31515488, 32296183 |
| GO:0005576 |
Component |
Extracellular region |
TAS |
|
| GO:0005615 |
Component |
Extracellular space |
IDA |
21805676 |
| GO:0005829 |
Component |
Cytosol |
TAS |
|
| GO:0005833 |
Component |
Hemoglobin complex |
IBA |
21873635 |
| GO:0005833 |
Component |
Hemoglobin complex |
IDA |
19740759 |
| GO:0005833 |
Component |
Hemoglobin complex |
NAS |
1301199, 10588683 |
| GO:0005833 |
Component |
Hemoglobin complex |
TAS |
1540659 |
| GO:0006898 |
Process |
Receptor-mediated endocytosis |
TAS |
|
| GO:0007596 |
Process |
Blood coagulation |
TAS |
|
| GO:0008217 |
Process |
Regulation of blood pressure |
IEA |
|
| GO:0010942 |
Process |
Positive regulation of cell death |
IDA |
19740759 |
| GO:0015671 |
Process |
Oxygen transport |
NAS |
1301199, 11747442 |
| GO:0015671 |
Process |
Oxygen transport |
TAS |
1540659 |
| GO:0015701 |
Process |
Bicarbonate transport |
TAS |
|
| GO:0019825 |
Function |
Oxygen binding |
IBA |
21873635 |
| GO:0019825 |
Function |
Oxygen binding |
IDA |
11747442, 28066926 |
| GO:0020037 |
Function |
Heme binding |
IBA |
21873635 |
| GO:0030185 |
Process |
Nitric oxide transport |
NAS |
8292032 |
| GO:0030492 |
Function |
Hemoglobin binding |
IDA |
1512262 |
| GO:0031720 |
Function |
Haptoglobin binding |
IBA |
21873635 |
| GO:0031720 |
Function |
Haptoglobin binding |
IDA |
19740759 |
| GO:0031721 |
Function |
Hemoglobin alpha binding |
IBA |
21873635 |
| GO:0031838 |
Component |
Haptoglobin-hemoglobin complex |
IBA |
21873635 |
| GO:0031838 |
Component |
Haptoglobin-hemoglobin complex |
IDA |
19740759 |
| GO:0042542 |
Process |
Response to hydrogen peroxide |
IDA |
19740759 |
| GO:0042744 |
Process |
Hydrogen peroxide catabolic process |
IBA |
21873635 |
| GO:0042744 |
Process |
Hydrogen peroxide catabolic process |
IDA |
19740759 |
| GO:0043177 |
Function |
Organic acid binding |
IBA |
21873635 |
| GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
| GO:0045429 |
Process |
Positive regulation of nitric oxide biosynthetic process |
NAS |
7965120 |
| GO:0046872 |
Function |
Metal ion binding |
IEA |
|
| GO:0070062 |
Component |
Extracellular exosome |
HDA |
19056867, 23533145 |
| GO:0070293 |
Process |
Renal absorption |
IMP |
18465053, 18974585 |
| GO:0070527 |
Process |
Platelet aggregation |
HMP |
23382103 |
| GO:0071682 |
Component |
Endocytic vesicle lumen |
TAS |
|
| GO:0072562 |
Component |
Blood microparticle |
HDA |
22516433 |
| GO:0098869 |
Process |
Cellular oxidant detoxification |
IEA |
|
| GO:1904724 |
Component |
Tertiary granule lumen |
TAS |
|
| GO:1904813 |
Component |
Ficolin-1-rich granule lumen |
TAS |
|
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein
|
| UniProt ID |
P68871 |
| Protein name |
Hemoglobin subunit beta (Beta-globin) (Hemoglobin beta chain) [Cleaved into: LVV-hemorphin-7; Spinorphin] |
| Protein function |
Involved in oxygen transport from the lung to the various peripheral tissues. ; LVV-hemorphin-7 potentiates the activity of bradykinin, causing a decrease in blood pressure.; [Spinorphin]: Functi |
| PDB |
1A00
,
1A01
,
1A0U
,
1A0Z
,
1A3N
,
1A3O
,
1ABW
,
1ABY
,
1AJ9
,
1B86
,
1BAB
,
1BBB
,
1BIJ
,
1BUW
,
1BZ0
,
1BZ1
,
1BZZ
,
1C7B
,
1C7C
,
1C7D
,
1CBL
,
1CBM
,
1CH4
,
1CLS
,
1CMY
,
1COH
,
1DKE
,
1DXT
,
1DXU
,
1DXV
,
1FN3
,
1G9V
,
1GBU
,
1GBV
,
1GLI
,
1GZX
,
1HAB
,
1HAC
,
1HBA
,
1HBB
,
1HBS
,
1HCO
,
1HDB
,
1HGA
,
1HGB
,
1HGC
,
1HHO
,
1IRD
,
1J3Y
,
1J3Z
,
1J40
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF00042 |
Globin |
8 → 112 |
Globin |
Domain |
|
Sequence |
|
| Sequence length |
147 |
| Interactions |
View interactions |
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|
