CBLIF

Summary

CBLIF (cobalamin binding intrinsic factor, HGNC:4268) is a protein-coding gene on chromosome 11q12.1, encoding Cobalamin binding intrinsic factor (P27352). Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum.

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.

Source: NCBI Gene 2694 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hereditary intrinsic factor deficiency (Strong, GenCC)
• Clinical variants (ClinVar): 176 total — 9 pathogenic, 7 likely-pathogenic
• Phenotypes (HPO): 26
• MANE Select transcript: NM_005142

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4268
Approved symbol	CBLIF
Name	cobalamin binding intrinsic factor
Location	11q12.1
Locus type	gene with protein product
Status	Approved
Aliases	TCN3, IF, IFMH, INF
Ensembl gene	ENSG00000134812
Ensembl biotype	protein_coding
OMIM	609342
Entrez	2694

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 3 retained_intron, 1 protein_coding, 1 nonsense_mediated_decay

ENST00000257248, ENST00000525058, ENST00000532070, ENST00000533067, ENST00000533847

RefSeq mRNA: 1 — MANE Select: NM_005142 NM_005142

CCDS: CCDS7977

Canonical transcript exons

ENST00000257248 — 9 exons

Exon	Start	End
ENSE00001170003	59845375	59845499
ENSE00002164105	59829273	59829545
ENSE00003511670	59837174	59837351
ENSE00003534224	59831678	59831796
ENSE00003541413	59843879	59844055
ENSE00003566775	59843028	59843141
ENSE00003614041	59835808	59836009
ENSE00003671074	59842443	59842583
ENSE00003678028	59841143	59841324

Expression profiles

Bgee: expression breadth ubiquitous, 141 present calls, max score 99.65.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6098 / max 1088.2645, expressed in 7 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
119883	0.6098	7

Top tissues by expression

281 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
cardia of stomach	UBERON:0001162	99.65	gold quality
pylorus	UBERON:0001166	98.03	gold quality
body of stomach	UBERON:0001161	90.18	gold quality
stomach	UBERON:0000945	89.77	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.54	gold quality
fundus of stomach	UBERON:0001160	87.26	gold quality
buccal mucosa cell	CL:0002336	72.78	silver quality
diaphragm	UBERON:0001103	67.09	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	66.35	gold quality
pancreatic ductal cell	CL:0002079	64.70	silver quality
cervix squamous epithelium	UBERON:0006922	63.21	gold quality
olfactory bulb	UBERON:0002264	60.49	gold quality
type B pancreatic cell	CL:0000169	60.27	gold quality
heart right ventricle	UBERON:0002080	59.63	gold quality
cardiac muscle of right atrium	UBERON:0003379	59.58	gold quality
left ventricle myocardium	UBERON:0006566	58.71	gold quality
right lung	UBERON:0002167	58.18	gold quality
hair follicle	UBERON:0002073	57.19	gold quality
decidua	UBERON:0002450	56.92	gold quality
ileal mucosa	UBERON:0000331	56.30	silver quality
myocardium	UBERON:0002349	55.22	gold quality
thymus	UBERON:0002370	54.16	gold quality
nasal cavity epithelium	UBERON:0005384	53.64	gold quality
endocervix	UBERON:0000458	53.49	gold quality
rectum	UBERON:0001052	53.17	gold quality
blood	UBERON:0000178	52.68	gold quality
cranial nerve II	UBERON:0000941	52.59	silver quality
cervix epithelium	UBERON:0004801	52.57	gold quality
quadriceps femoris	UBERON:0001377	52.17	gold quality
uterine cervix	UBERON:0000002	51.83	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.91

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREB1, KLF10, NEUROG1, USF1, USF2

miRNA regulators (miRDB)

28 targeting CBLIF, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-3616-5P	99.55	67.02	989
HSA-MIR-573	99.55	67.44	955
HSA-MIR-12131	99.48	68.72	1673
HSA-MIR-1911-3P	99.15	66.17	528
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4795-5P	99.11	66.90	876
HSA-MIR-153-3P	98.96	72.51	1644
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-937-5P	97.43	68.39	667
HSA-MIR-3121-5P	97.30	66.62	1146
HSA-MIR-620	96.94	66.79	888
HSA-MIR-1270	96.94	66.65	931
HSA-MIR-5702	96.68	68.21	958
HSA-MIR-4790-5P	96.67	67.45	167
HSA-MIR-597-3P	96.46	68.03	1035
HSA-MIR-6753-5P	94.70	64.08	470
HSA-MIR-3672	94.46	65.67	646
HSA-MIR-6864-3P	94.46	65.97	625

Literature-anchored findings (GeneRIF, showing 12)

• A polymorphism in the gastric intrinsic factor gene is associated with congenital intrinsic factor deficiency. (PMID:14695536)
• The parameters obtained for ligand and receptor binding in this study indicate that both full-length 50-kDA intrinsic factor and its 30-kDa and 20-kDa fragments may be involved in assimilation of cobalamin. (PMID:15736970)
• possible basis for the lack of interchangeability of human and rat IF receptors is presented (PMID:17954916)
• The Q5R mutation of the intrinsic factor gene predisposes to adult-onset pernicious anemia & other causes of low vitamin B12. In this mutation, intrinsic factor secretion is preserved but B12 absorption may be impaired. (PMID:18338170)
• a specific GIF mutation to be responsible for all Juvenile cobalamin deficiency cases of West-African origin so far was identified (PMID:19036097)
• crystal structure of the complex between IF-Cbl and the cubilin IF-Cbl-binding-region (CUB(5-8)) determined at 3.3 A resolution (PMID:20237569)
• Acute lymphoblastic leukemia and vitamin B12 deficiency secondary to a gastric intrinsic factor gene mutation (PMID:22556038)
• Our genetic screening of 154 families of patients with inherited cobalamin malabsorption revealed population-specific mutations, mutational hotspots, and functionally distinct regions in the three causal genes: CUBN, AMN, and GIF. (PMID:22929189)
• study reports that FUT2 secretor variant influences GIF secretion in B12 deficient cases bearing GIF heterozygous mutations, in absence of H. pylori related gastritis (PMID:23402911)
• the present findings reveal that High-altitude polycythemia -induced gastric mucosal lesion inspires the protection responses by up-regulating APOA4 and APOC3, and down-regulating GIF. (PMID:26485402)
• The gastric intrinsic factor (GIF) 290C heterozygous/fucosyltransferase 2 (secretor status included) protein (FUT2) rs601338 secretor variant combined genotype was indicated in 6 of the 37 neural tube defects (NTDs) fetuses. (PMID:28742214)
• Pancytopenia and megaloblastic erythropoiesis reveal a novel GIF mutation. (PMID:29368379)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
mus_musculus	Cblif	ENSMUSG00000024682
rattus_norvegicus	Cblif	ENSRNOG00000021001
drosophila_melanogaster	CG3556	FBGN0029708

Paralogs (2): TCN1 (ENSG00000134827), TCN2 (ENSG00000185339)

Protein

Protein identifiers

Cobalamin binding intrinsic factor — P27352 (reviewed: P27352)

Alternative names: Gastric intrinsic factor, Intrinsic factor

All UniProt accessions (2): P27352, E9PM21

UniProt curated annotations — full annotation on UniProt →

Function. Promotes absorption of the essential vitamin cobalamin (Cbl) in the ileum. After interaction with CUBN, the CBLIF-cobalamin complex is internalized via receptor-mediated endocytosis.

Subunit / interactions. Interacts with CUBN (via CUB domains).

Subcellular location. Secreted.

Tissue specificity. Gastric mucosa.

Disease relevance. Hereditary intrinsic factor deficiency (IFD) [MIM:261000] Autosomal recessive disorder characterized by megaloblastic anemia. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the eukaryotic cobalamin transport proteins family.

Isoforms (2)

UniProt ID	Names	Canonical?
P27352-1	1	yes
P27352-2	2

RefSeq proteins (1): NP_005133* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002157	Cbl-bd_prot	Family
IPR051588	Cobalamin_Transport	Family

Pfam: PF01122

UniProt features (53 total): helix 18, strand 8, binding site 5, glycosylation site 4, sequence variant 4, sequence conflict 4, disulfide bond 3, turn 3, signal peptide 1, chain 1, splice variant 1, modified residue 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2PMV	X-RAY DIFFRACTION	2.6
3KQ4	X-RAY DIFFRACTION	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P27352-F1	90.69	0.83

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (5): 171; 222; 270; 365–370; 386–395

Post-translational modifications (1): 191

Disulfide bonds (3): 26–246, 103–288, 143–182

Glycosylation sites (4): 334, 413, 311, 330

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-3359457	Defective CBLIF causes IFD
R-HSA-3359462	Defective AMN causes MGA1
R-HSA-3359463	Defective CUBN causes MGA1
R-HSA-9758881	Uptake of dietary cobalamins into enterocytes

MSigDB gene sets: 155 (showing top): GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_VITAMIN_TRANSPORT, MORF_EPHA7, MORF_RAB3A, GOCC_APICAL_PLASMA_MEMBRANE, LEE_CALORIE_RESTRICTION_NEOCORTEX_UP, MORF_WNT1, VECCHI_GASTRIC_CANCER_EARLY_DN, MCCLUNG_COCAIN_REWARD_4WK, MORF_IL9, GOBP_TRANSMEMBRANE_TRANSPORT, MORF_DCC, AP1FJ_Q2, GOCC_LYSOSOMAL_LUMEN

GO Biological Process (3): cobalt ion transport (GO:0006824), cobalamin transport (GO:0015889), monoatomic ion transport (GO:0006811)

GO Molecular Function (4): cobalamin binding (GO:0031419), molecular carrier activity (GO:0140104), cargo receptor ligand activity (GO:0140355), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endosome (GO:0005768), microvillus (GO:0005902), apical plasma membrane (GO:0016324), lysosomal lumen (GO:0043202)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Defects in cobalamin (B12) metabolism	3
Cobalamin (Cbl, vitamin B12) transport and metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
transition metal ion transport	1
monoatomic cation transmembrane transport	1
vitamin transport	1
nitrogen compound transport	1
transport	1
vitamin binding	1
tetrapyrrole binding	1
heterocyclic compound binding	1
molecular_function	1
protein binding	1
cellular anatomical structure	1
endomembrane system	1
cytoplasmic vesicle	1
actin filament bundle	1
actin-based cell projection	1
apical part of cell	1
plasma membrane region	1
lysosome	1
vacuolar lumen	1

Protein interactions and networks

STRING

448 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CBLIF	CUBN	O60494	984
CBLIF	AMN	Q9BXJ7	899
CBLIF	CBL	P22681	815
CBLIF	LRP2	P98164	793
CBLIF	C1R	P00736	711
CBLIF	C1S	P09871	694
CBLIF	ATP4B	P51164	676
CBLIF	LDLRAP1	Q5SW96	639
CBLIF	TFF2	Q03403	633
CBLIF	BMP1	P13497	592
CBLIF	GAST	P01350	567
CBLIF	CD320	Q9NPF0	560
CBLIF	MUC6	Q6W4X9	531
CBLIF	LTF	P02788	524
CBLIF	GC	P02774	515

IntAct

29 interactions, top by confidence:

A	B	Type	Score
CBLIF	SLC7A14	psi-mi:“MI:0915”(physical association)	0.560
CBLIF	FFAR2	psi-mi:“MI:0915”(physical association)	0.560
CBLIF	SLC13A4	psi-mi:“MI:0915”(physical association)	0.560
CBLIF	TMEM237	psi-mi:“MI:0915”(physical association)	0.560
SLC22A23	CBLIF	psi-mi:“MI:0915”(physical association)	0.560
CBLIF	SLC7A1	psi-mi:“MI:0915”(physical association)	0.560
FFAR2	CBLIF	psi-mi:“MI:0915”(physical association)	0.560
CBLIF	CUBN	psi-mi:“MI:0407”(direct interaction)	0.560
ZNF354C	LRP4	psi-mi:“MI:0914”(association)	0.530
SLC5A9	CD63	psi-mi:“MI:0914”(association)	0.530
CBLIF	CBLIF	psi-mi:“MI:0407”(direct interaction)	0.440
CBLIF	HSPA8	psi-mi:“MI:0915”(physical association)	0.400
GALNT5	CBLIF	psi-mi:“MI:0915”(physical association)	0.400
CBLIF	FBXO2	psi-mi:“MI:0915”(physical association)	0.400
EBNA1	IGF2BP3	psi-mi:“MI:0914”(association)	0.350
SPAST	CBLIF	psi-mi:“MI:0914”(association)	0.350
CBLIF	SLC13A4	psi-mi:“MI:0915”(physical association)	0.000
CBLIF	TMEM237	psi-mi:“MI:0915”(physical association)	0.000
CBLIF	SLC7A1	psi-mi:“MI:0915”(physical association)	0.000
CBLIF	SLC22A23	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (18): FBXO2 (Affinity Capture-MS), GIF (Affinity Capture-MS), GIF (Two-hybrid), GIF (Two-hybrid), SLC22A23 (Two-hybrid), SLC7A1 (Two-hybrid), TMEM237 (Two-hybrid), SLC13A4 (Two-hybrid), GIF (Proximity Label-MS), GIF (Reconstituted Complex), FBXO2 (Affinity Capture-MS), GIF (Affinity Capture-MS), GIF (Affinity Capture-MS), GIF (Affinity Capture-MS), GIF (Affinity Capture-MS)

ESM2 similar proteins: A2RT67, A4D0V7, A4FV27, A6NFY4, D2XPP7, D3Z2R5, O18638, O70367, O75129, O75829, O77770, P0CG01, P17267, P17404, P20362, P24405, P27352, P40682, P45641, P52787, P54863, P79894, Q2MV58, Q3U128, Q52LC2, Q5PPI4, Q5R2I8, Q5R2J4, Q5RBY5, Q62522, Q66KI8, Q6DF34, Q6E211, Q6PGD0, Q6Q2W4, Q6UW56, Q7Z7H3, Q8CB65, Q8J025, Q95LL7

Diamond homologs: P17267, P20061, P27352, P52787, Q5XWD5, P17630, P20062, Q5REL7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

176 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	7
Uncertain significance	77
Likely benign	52
Benign	15

Top pathogenic / likely-pathogenic (16)

Variant ID	HGVS	Classification
1745	NM_005142.3(CBLIF):c.80-1G>A	Pathogenic
1747	NM_005142.3(CBLIF):c.161del (p.Asn54fs)	Pathogenic
1748	NM_005142.3(CBLIF):c.1175dup (p.Thr393fs)	Pathogenic
208191	NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter)	Pathogenic
2903417	NM_005142.3(CBLIF):c.310C>T (p.Arg104Ter)	Pathogenic
3721037	NM_005142.3(CBLIF):c.659T>C (p.Ile220Thr)	Pathogenic
439755	NM_005142.3(CBLIF):c.79+1G>A	Pathogenic
4749260	NM_005142.3(CBLIF):c.52_56del (p.Thr18fs)	Pathogenic
566919	NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	Pathogenic
1746	NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)	Likely pathogenic
1969715	NM_005142.3(CBLIF):c.370+83_426del	Likely pathogenic
2425302	NC_000011.9:g.(?59603261)(59604844_?)dup	Likely pathogenic
2431712	NM_005142.3(CBLIF):c.370+1G>C	Likely pathogenic
3362465	NM_005142.3(CBLIF):c.395_396delinsAA (p.Phe132Ter)	Likely pathogenic
3766532	NM_005142.3(CBLIF):c.67_68del (p.Gln23fs)	Likely pathogenic
830018	NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg)	Likely pathogenic

SpliceAI

1202 predictions. Top by Δscore:

Variant	Effect	Δscore
11:59837348:GAGC:G	acceptor_gain	1.0000
11:59837349:AGCC:A	acceptor_loss	1.0000
11:59837350:GC:G	acceptor_gain	1.0000
11:59837351:CC:C	acceptor_gain	1.0000
11:59837352:CTGGG:C	acceptor_loss	1.0000
11:59837353:T:A	acceptor_loss	1.0000
11:59841325:C:CC	acceptor_gain	1.0000
11:59842587:C:CT	acceptor_gain	1.0000
11:59842588:G:T	acceptor_gain	1.0000
11:59843008:C:CA	donor_gain	1.0000
11:59843026:A:AC	donor_gain	1.0000
11:59843027:C:CC	donor_gain	1.0000
11:59843873:TCTCA:T	donor_loss	1.0000
11:59843874:CTCA:C	donor_loss	1.0000
11:59843875:TCACC:T	donor_loss	1.0000
11:59843876:CACC:C	donor_loss	1.0000
11:59843877:A:AC	donor_gain	1.0000
11:59843877:A:C	donor_loss	1.0000
11:59843878:C:CC	donor_gain	1.0000
11:59844053:CGG:C	acceptor_gain	1.0000
11:59845374:CAG:C	donor_gain	1.0000
11:59829543:CCC:C	acceptor_gain	0.9900
11:59829543:CCCCT:C	acceptor_loss	0.9900
11:59829544:CCC:C	acceptor_gain	0.9900
11:59829545:CCTG:C	acceptor_loss	0.9900
11:59829546:CT:C	acceptor_loss	0.9900
11:59829547:T:A	acceptor_loss	0.9900
11:59831797:C:CC	acceptor_gain	0.9900
11:59835806:A:AC	donor_gain	0.9900
11:59835807:C:CC	donor_gain	0.9900

AlphaMissense

2744 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:59831712:C:A	W386C	0.991
11:59831712:C:G	W386C	0.991
11:59831714:A:G	W386R	0.990
11:59831714:A:T	W386R	0.990
11:59829504:C:G	A412P	0.986
11:59829503:G:T	A412D	0.982
11:59835833:C:G	A350P	0.978
11:59841297:A:G	L180P	0.978
11:59842546:A:C	S136R	0.978
11:59842546:A:T	S136R	0.978
11:59842548:T:G	S136R	0.978
11:59843106:C:G	A98P	0.976
11:59837313:C:A	W244C	0.974
11:59837313:C:G	W244C	0.974
11:59831713:C:G	W386S	0.972
11:59841292:A:G	C182R	0.971
11:59837230:A:G	L272P	0.969
11:59843947:A:G	L63P	0.969
11:59841290:A:C	C182W	0.968
11:59831793:A:C	F359L	0.967
11:59831793:A:T	F359L	0.967
11:59831795:A:G	F359L	0.967
11:59842525:G:C	C143W	0.967
11:59835810:G:C	F357L	0.966
11:59835810:G:T	F357L	0.966
11:59835812:A:G	F357L	0.966
11:59835935:A:C	Y316D	0.966
11:59842527:A:G	C143R	0.966
11:59831761:A:T	V370D	0.965
11:59837239:G:T	A269D	0.965

dbSNP variants (sampled 300 via entrez): RS1000067116 (11:59831417 T>C), RS1000553130 (11:59834539 C>T), RS1000716897 (11:59828830 T>C), RS1000966650 (11:59847443 A>T), RS1000985388 (11:59840989 A>C,G), RS1001016630 (11:59840536 A>C), RS1001310716 (11:59847077 A>G), RS1001333685 (11:59837700 T>C), RS1001338574 (11:59831146 T>C), RS1001461489 (11:59844800 T>C), RS1001489258 (11:59834249 T>A,C), RS1001720440 (11:59835452 A>G), RS1001842727 (11:59830706 T>C), RS1001924823 (11:59833933 A>G), RS1001968500 (11:59841950 C>G,T)

Disease associations

OMIM: gene MIM:609342 | disease phenotypes: MIM:261000

GenCC curated gene-disease

Disease	Classification	Inheritance
hereditary intrinsic factor deficiency	Strong	Autosomal recessive

Mondo (1): hereditary intrinsic factor deficiency (MONDO:0009852)

Orphanet (1): Congenital intrinsic factor deficiency (Orphanet:332)

HPO phenotypes

26 total (26 of 26 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000726	Dementia
HP:0001328	Specific learning disability
HP:0001510	Growth delay
HP:0001889	Megaloblastic anemia
HP:0002160	Hyperhomocystinemia
HP:0002315	Headache
HP:0002719	Recurrent infections
HP:0002912	Methylmalonic acidemia
HP:0003401	Paresthesia
HP:0003474	Somatic sensory dysfunction
HP:0003621	Juvenile onset
HP:0005219	Absence of intrinsic factor
HP:0005518	Increased mean corpuscular volume
HP:0006827	Atrophy of the spinal cord
HP:0009830	Peripheral neuropathy
HP:0011463	Childhood onset
HP:0012120	Methylmalonic aciduria
HP:0020181	Reduced haptoglobin level
HP:0025406	Asthenia
HP:0025435	Increased circulating lactate dehydrogenase concentration
HP:0031965	Increased RBC distribution width
HP:0100502	Decreased circulating vitamin B12 concentration
HP:0200118	Malabsorption of Vitamin B12
HP:0200143	Megaloblastic erythroid hyperplasia
HP:6000344	Anti-intrinsic factor antibody positivity

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563242	Intrinsic Factor Deficiency (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
Benzo(a)pyrene	affects methylation	1
Cadmium	decreases expression	1
Free Radicals	affects metabolic processing	1
Tetradecanoylphorbol Acetate	affects cotreatment, affects expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	affects expression	1
Zinc	affects cotreatment, affects expression	1
Hydroxyl Radical	affects metabolic processing	1

Cellosaurus cell lines

1 cell lines: 1 finite cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B3YS	WG2436	Finite cell line	Female

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT03655223	Not specified	ENROLLING_BY_INVITATION	Early Check: Expanded Screening in Newborns