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. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5`-epsilon -- gamma-G -- gamma-A -- delta -- beta--3`. [provided by RefSeq, Jul 2008] |
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.
|
|
|
| Transcription factors
|
|
|
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 |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
| 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]: functions as an endogenous inhibitor of enkephalin-degrading enzymes such as DPP3, and as a selective antagonist of the P2RX3 receptor which is involved in pain signaling, these properties implicate it as a regulator of pain and inflammation. |
| 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 |
|
|
