MIMS2

Summary

MIMS2 (mitochondrial inner membrane scaffold 2, HGNC:16102) is a protein-coding gene on chromosome 20q13.2, encoding Protein FAM210B, mitochondrial (Q96KR6). Plays a role in erythroid differentiation.

Involved in cellular response to estradiol stimulus and positive regulation of erythrocyte differentiation. Located in mitochondrial outer membrane.

Source: NCBI Gene 116151 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 23 total
• MANE Select transcript: NM_080821

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16102
Approved symbol	MIMS2
Name	mitochondrial inner membrane scaffold 2
Location	20q13.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ1167H4.1, DKFZP434A1114
Ensembl gene	ENSG00000124098
Ensembl biotype	protein_coding
OMIM	618722
Entrez	116151

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000371384, ENST00000437418

RefSeq mRNA: 1 — MANE Select: NM_080821 NM_080821

CCDS: CCDS13450

Canonical transcript exons

ENST00000371384 — 3 exons

Exon	Start	End
ENSE00000845683	56365087	56365262
ENSE00001286104	56358974	56359191
ENSE00001455111	56366071	56368663

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 98.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 56.2371 / max 3249.5062, expressed in 1817 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
185411	55.8949	1817
185410	0.2381	71
185409	0.1041	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
parotid gland	UBERON:0001831	98.78	gold quality
trabecular bone tissue	UBERON:0002483	98.59	gold quality
skin of hip	UBERON:0001554	97.06	gold quality
left adrenal gland	UBERON:0001234	97.02	gold quality
adrenal cortex	UBERON:0001235	96.98	gold quality
left adrenal gland cortex	UBERON:0035825	96.88	gold quality
right adrenal gland cortex	UBERON:0035827	96.87	gold quality
seminal vesicle	UBERON:0000998	96.72	gold quality
right adrenal gland	UBERON:0001233	96.64	gold quality
adrenal tissue	UBERON:0018303	96.64	gold quality
mammary duct	UBERON:0001765	96.60	gold quality
upper leg skin	UBERON:0004262	96.57	gold quality
left ovary	UBERON:0002119	96.40	gold quality
adrenal gland	UBERON:0002369	96.39	gold quality
lateral nuclear group of thalamus	UBERON:0002736	96.32	gold quality
trigeminal ganglion	UBERON:0001675	96.17	gold quality
nipple	UBERON:0002030	96.11	gold quality
body of tongue	UBERON:0011876	96.01	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.00	gold quality
urethra	UBERON:0000057	95.85	gold quality
mammalian vulva	UBERON:0000997	95.80	gold quality
cardia of stomach	UBERON:0001162	95.75	gold quality
blood	UBERON:0000178	95.71	gold quality
right ovary	UBERON:0002118	95.63	gold quality
ovary	UBERON:0000992	95.45	gold quality
palpebral conjunctiva	UBERON:0001812	95.43	gold quality
penis	UBERON:0000989	95.12	gold quality
dorsal root ganglion	UBERON:0000044	95.04	gold quality
saphenous vein	UBERON:0007318	94.80	gold quality
biceps brachii	UBERON:0001507	94.73	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-HCAD-4	yes	137.31
E-CURD-112	yes	59.68
E-MTAB-10042	yes	50.48
E-MTAB-9221	yes	25.36
E-MTAB-9067	yes	9.89
E-HCAD-9	yes	9.10
E-MTAB-9388	yes	8.72
E-MTAB-9467	yes	6.67
E-HCAD-10	yes	3.87
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

101 targeting MIMS2, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-652-5P	99.91	67.49	505
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-380-3P	99.89	70.18	1978
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-137-3P	99.87	74.74	2401

Literature-anchored findings (GeneRIF, showing 6)

• Both human and murine FAM210B are abundantly expressed in the later stages of erythroblast development. Moreover, the deduced amino acid sequence predicted that FAM210B is a membrane protein, and Western blot analysis demonstrated its mitochondrial localization. Loss-of-function analysis in erythroid cells suggested that FAM210B may be involved in erythroid differentiation. (PMID:26968549)
• it was found that low expression of FAM210B was significantly correlated with decreased survival and enhanced metastasis in vivo and in vitro, and the loss of FAM210B led to an increased mitochondrial respiratory capacity and reduced glycolysis through the downregulation of pyruvate dehydrogenase kinase 4 (PDK4). (PMID:28594398)
• FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity (PMID:30366982)
• Elucidation of the Role of FAM210B in Mitochondrial Metabolism and Erythropoiesis. (PMID:36374104)
• Mendelian randomization study on causal association of FAM210B with drug-induced lupus. (PMID:38436771)
• Multifaceted role of FAM210B in hepatocellular carcinoma: Implications for tumour progression, microenvironment modulation and therapeutic selection. (PMID:39198940)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam210b	ENSDARG00000052638
mus_musculus	Fam210b	ENSMUSG00000027495
rattus_norvegicus	Fam210b	ENSRNOG00000004466
drosophila_melanogaster	CG15403	FBGN0031504
drosophila_melanogaster	CG17508	FBGN0039970

Paralogs (1): FAM210A (ENSG00000177150)

Protein

Protein identifiers

Protein FAM210B, mitochondrial — Q96KR6 (reviewed: Q96KR6)

All UniProt accessions (2): Q96KR6, H0Y456

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in erythroid differentiation. Involved in cell proliferation and tumor cell growth suppression. Involved in the metabolic reprogramming of cancer cells in a PDK4-dependent manner.

Subcellular location. Mitochondrion. Mitochondrion outer membrane.

Tissue specificity. Expressed in late erythroblast differentiation stages. Underexpressed in ovarian cancer epithelia cells compared with normal human ovarian surface epithelia.

Induction. Up-regulated by the erythroid transcription factor GATA1.

Similarity. Belongs to the FAM210 family.

RefSeq proteins (1): NP_543011* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009688	FAM210A/B-like_dom	Domain
IPR045866	FAM210A/B-like	Family

Pfam: PF06916

UniProt features (10 total): transmembrane region 2, sequence conflict 2, transit peptide 1, chain 1, domain 1, region of interest 1, compositionally biased region 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96KR6-F1	68.03	0.04

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 160 (showing top): GOBP_MYELOID_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_ERYTHROCYTE_DIFFERENTIATION, GOBP_MYELOID_CELL_HOMEOSTASIS, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_MYELOID_CELL_DEVELOPMENT, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOBP_INFLAMMATORY_RESPONSE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_ERYTHROCYTE_HOMEOSTASIS, IVANOVA_HEMATOPOIESIS_MATURE_CELL, CTATGCA_MIR153, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_REGULATION_OF_HEMOPOIESIS

GO Biological Process (9): inflammatory response (GO:0006954), erythrocyte maturation (GO:0043249), skin development (GO:0043588), positive regulation of erythrocyte differentiation (GO:0045648), spleen development (GO:0048536), cellular response to estradiol stimulus (GO:0071392), reactive oxygen species metabolic process (GO:0072593), cell differentiation (GO:0030154), erythrocyte differentiation (GO:0030218)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial outer membrane (GO:0005741), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	1
cell maturation	1
erythrocyte development	1
animal organ development	1
erythrocyte differentiation	1
positive regulation of myeloid cell differentiation	1
regulation of erythrocyte differentiation	1
hematopoietic or lymphoid organ development	1
response to estradiol	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
metabolic process	1
cellular developmental process	1
myeloid cell differentiation	1
erythrocyte homeostasis	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
mitochondrial membrane	1
organelle outer membrane	1
cellular anatomical structure	1

Protein interactions and networks

STRING

466 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MIMS2	CHST4	Q8NCG5	458
MIMS2	FECH	P22830	454
MIMS2	LMBR1	Q8WVP7	452
MIMS2	TERB1	Q8NA31	430
MIMS2	TRIM58	Q8NG06	426
MIMS2	MKLN1	Q9UL63	416
MIMS2	UROD	P06132	413
MIMS2	SLC25A39	Q9BZJ4	397
MIMS2	FAM209A	Q5JX71	395
MIMS2	RTF2	Q9BY42	391
MIMS2	CPOX	P36551	383
MIMS2	ANKLE1	Q8NAG6	383
MIMS2	DMTN	Q08495	373
MIMS2	ALAS2	P22557	369
MIMS2	BLVRB	P30043	360

IntAct

238 interactions, top by confidence:

A	B	Type	Score
TMEM107	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
SERP1	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
YIF1A	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
CCDC167	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
BET1	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
MFF	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
SMCO4	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
HMOX2	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
RTP2	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
VKORC1	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
SERP2	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
LPAR3	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
SLC35B4	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
CNIH3	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
TF	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
CYP4F2	FAM210B	psi-mi:“MI:0915”(physical association)	0.560
FAM210B	VKORC1	psi-mi:“MI:0915”(physical association)	0.560
CYB5R3	FAM210B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (114): FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Affinity Capture-MS), FAM210B (Two-hybrid), FAM210B (Two-hybrid), FAM210B (Two-hybrid)

ESM2 similar proteins: A0A2K3D1C8, A0A2K3DU55, A0JMH2, A2YQ58, A8ID74, A8IF44, A8ITV9, A8J1V4, A8JAF2, D0N4E2, E6ZZ11, F5A894, O80952, P22185, Q05B87, Q0C8L9, Q0D3F2, Q0VCH8, Q2QPW2, Q39586, Q3S2U3, Q4VKB4, Q53JI9, Q5GA22, Q5N9A1, Q5U2V5, Q6EU10, Q6PI78, Q6R2V6, Q6Z4A7, Q75BG6, Q75CX4, Q7SEE1, Q80ZM8, Q84V18, Q8GTZ9, Q8GVC7, Q8H8U0, Q8MZC4, Q8RVC7

Diamond homologs: A4IJ20, Q05B67, Q1MTD4, Q5CZQ0, Q5M7E0, Q5RE99, Q5XIJ4, Q5ZML6, Q8BGY7, Q96KR6, Q96ND0, Q9D8B6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 82 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Transferrin endocytosis and recycling	5	40.9×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	17
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

270 predictions. Top by Δscore:

Variant	Effect	Δscore
20:56365073:T:TA	acceptor_gain	1.0000
20:56365081:A:AG	acceptor_gain	1.0000
20:56365082:C:G	acceptor_gain	1.0000
20:56365082:CACA:C	acceptor_loss	1.0000
20:56365083:A:AG	acceptor_gain	1.0000
20:56365083:ACAG:A	acceptor_gain	1.0000
20:56365084:C:G	acceptor_gain	1.0000
20:56365084:CAGG:C	acceptor_loss	1.0000
20:56365085:A:AG	acceptor_gain	1.0000
20:56365085:AG:A	acceptor_gain	1.0000
20:56365086:G:GG	acceptor_gain	1.0000
20:56365086:GG:G	acceptor_gain	1.0000
20:56365086:GGA:G	acceptor_gain	1.0000
20:56365086:GGAC:G	acceptor_gain	1.0000
20:56365260:AAGG:A	donor_loss	1.0000
20:56365263:G:GC	donor_loss	1.0000
20:56365263:G:GG	donor_gain	1.0000
20:56366066:CCTA:C	acceptor_loss	1.0000
20:56366067:CTA:C	acceptor_loss	1.0000
20:56366069:A:AG	acceptor_gain	1.0000
20:56366069:AG:A	acceptor_loss	1.0000
20:56366069:AGT:A	acceptor_gain	1.0000
20:56366069:AGTG:A	acceptor_gain	1.0000
20:56366070:G:C	acceptor_loss	1.0000
20:56366070:G:GA	acceptor_gain	1.0000
20:56366070:GT:G	acceptor_gain	1.0000
20:56366070:GTG:G	acceptor_gain	1.0000
20:56366070:GTGG:G	acceptor_gain	1.0000
20:56366070:GTGGT:G	acceptor_gain	1.0000
20:56359188:CCAGG:C	donor_loss	0.9900

AlphaMissense

1207 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:56366204:A:C	S166R	0.989
20:56366206:C:A	S166R	0.989
20:56366206:C:G	S166R	0.989
20:56366182:G:C	K158N	0.982
20:56366182:G:T	K158N	0.982
20:56366211:C:A	T168K	0.976
20:56366199:G:C	R164T	0.974
20:56366200:A:C	R164S	0.973
20:56366200:A:T	R164S	0.973
20:56366211:C:G	T168R	0.972
20:56366168:T:G	Y154D	0.971
20:56365237:G:C	G113R	0.966
20:56365199:G:A	G100D	0.965
20:56366172:C:A	A155E	0.963
20:56365238:G:A	G113D	0.962
20:56366150:A:C	S148R	0.962
20:56366152:T:A	S148R	0.962
20:56366152:T:G	S148R	0.962
20:56366156:T:C	F150L	0.962
20:56366158:C:A	F150L	0.962
20:56366158:C:G	F150L	0.962
20:56366166:C:A	A153D	0.962
20:56365217:G:A	G106E	0.961
20:56365216:G:A	G106R	0.960
20:56365216:G:C	G106R	0.960
20:56365190:G:T	G97V	0.954
20:56366177:C:G	H157D	0.954
20:56365210:C:G	H104D	0.953
20:56366171:G:C	A155P	0.953
20:56366235:T:A	V176D	0.953

dbSNP variants (sampled 300 via entrez): RS1000105592 (20:56367441 C>T), RS1000338162 (20:56362507 C>G), RS1000520773 (20:56357771 G>C), RS1000796424 (20:56357522 T>C), RS1001518486 (20:56363391 T>C), RS1001727266 (20:56369156 T>A,G), RS1001840391 (20:56358687 CCA>C), RS1001913178 (20:56357186 A>G), RS1002190065 (20:56359549 G>C), RS1002497550 (20:56359230 C>T), RS1002863765 (20:56358845 A>C,T), RS1003897944 (20:56367020 C>G), RS1003914749 (20:56359881 G>T), RS1003950269 (20:56366781 T>C), RS1004592713 (20:56358580 T>A,C)

Disease associations

OMIM: gene MIM:618722 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

71 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	5
Cyclosporine	decreases expression	4
sodium arsenite	decreases expression, increases abundance	3
Benzo(a)pyrene	decreases methylation, increases expression	3
bisphenol A	decreases expression, affects cotreatment, increases expression	2
trichostatin A	increases expression, affects cotreatment	2
arsenite	affects binding, increases reaction, increases methylation	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Cadmium Chloride	decreases expression	2
Particulate Matter	decreases expression, increases abundance, increases expression	2
dicrotophos	decreases expression	1
chloroacetaldehyde	affects expression	1
daidzein	affects cotreatment, increases expression	1
daidzin	affects cotreatment, increases expression	1
beta-lapachone	decreases expression	1
cobaltous chloride	decreases expression	1
perfluorooctanoic acid	affects cotreatment, increases expression	1
cupric chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment, decreases expression, affects response to substance	1
genistin	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
glycitein	affects cotreatment, increases expression	1
entinostat	increases expression	1
glycitin	affects cotreatment, increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dimethylarsinous acid	decreases expression	1
nutlin 3	affects cotreatment, increases expression	1
bisphenol B	increases expression	1
abrine	decreases expression	1

Clinical trials (associated diseases)

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