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This gene is a member of the cobalamin transport protein family. It encodes a glycoprotein secreted by parietal cells of the gastric mucosa and is required for adequate absorption of vitamin B12. Vitamin B12 is necessary for erythrocyte maturation and mutations in this gene may lead to congenital pernicious anemia. [provided by RefSeq, Jul 2008]
CBLIF (Cobalamin Binding Intrinsic Factor) is a Protein Coding gene. Diseases associated with CBLIF include Intrinsic Factor Deficiency and Congenital Intrinsic Factor Deficiency. Among its related pathways are Vitamin digestion and absorption and Selenium Micronutrient Network. An important paralog of this gene is TCN1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J059849 | Enhancer | 0.4 | Ensembl | 750.6 | -1.7 | -1664 | 1.6 | PKNOX1 FOXK2 ZFHX2 | CBLIF STX3 lnc-TCN1-1 | |
GH11J059845 | Promoter | 0.3 | EPDnew | 750.6 | +0.0 | 18 | 0.1 | CBLIF HSALNG0084431 | ||
GH11J059846 | Enhancer | 0.2 | ENCODE | 750.6 | -0.1 | -146 | 0.2 | CBLIF lnc-TCN1-1 | ||
GH11J059919 | Enhancer | 0.8 | Ensembl ENCODE | 11.4 | -73.5 | -73464 | 0.8 | CTCF CC2D1A RAD21 ZNF384 ARID2 REST CEBPB JUND DEK RFX5 | lnc-OOSP2-3 TCN1 CBLIF OOSP2 MS4A2 SRD5A3P1 | |
GH11J059891 | Enhancer | 0.9 | Ensembl ENCODE | 10.7 | -46.5 | -46539 | 1 | SMARCE1 ZNF148 BACH1 SMARCA4 IKZF1 ATF1 PKNOX1 HDAC1 ZNF316 MTA2 | TCN1 CBLIF MS4A2 NONHSAG008417.2 piR-38351-077 OOSP3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0031419 | cobalamin binding | IDA | 14695536 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IDA | 14695536 |
GO:0005768 | endosome | TAS | -- |
GO:0005902 | microvillus | IDA | 8886952 |
GO:0016324 | apical plasma membrane | IDA | 8886952 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006824 | cobalt ion transport | IEA | -- |
GO:0009235 | cobalamin metabolic process | TAS | -- |
GO:0015889 | cobalamin transport | IMP | 15738392 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | GIF 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Gif 33 32 |
|
OneToOne | |
Cblif 17 |
|
||||
cow (Bos Taurus) |
Mammalia | GIF 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Gif 32 |
|
||
dog (Canis familiaris) |
Mammalia | GIF 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | GIF 33 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | GIF 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | GIF 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | GIF 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | gif 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs115964827 | uncertain-significance, Intrinsic factor deficiency | 59,843,888(-) | C/T | coding_sequence_variant, missense_variant | |
rs11825834 | likely-benign, not provided, - | 59,843,942(-) | C/T | coding_sequence_variant, missense_variant | |
rs121434322 | uncertain-significance, Intrinsic factor deficiency, Hereditary intrinsic factor deficiency (IFD) [MIM:261000] | 59,843,998(-) | G/A/T | coding_sequence_variant, missense_variant, stop_gained | |
rs139444835 | uncertain-significance, Intrinsic factor deficiency | 59,843,917(-) | T/C | coding_sequence_variant, missense_variant | |
rs144916324 | uncertain-significance, Intrinsic factor deficiency, not provided | 59,843,981(-) | A/T | coding_sequence_variant, missense_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
intrinsic factor deficiency |
|
|
congenital intrinsic factor deficiency |
|
|
pernicious anemia |
|
|
megaloblastic anemia |
|
|
megaloblastic anemia 1 |
|
|