FAM210B

Mitochondrial inner membrane scaffold 2 Q96KR6 MIMS2_HUMAN
Swiss-Prot reviewed
Mutations
60
CL 16 · Tissue 42
Samples
57
CL 16 · Tissue 39
Peptides
49
unique mutant peptides
Transcripts
1
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Total = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

TotalCell lineTissue
Mutations601642
Samples571639
Peptides491336

Function

FAM210B · Mitochondrial inner membrane scaffold 2

Mitochondrial inner membrane adapter protein essential for terminal erythroid differentiation and heme biosynthesis (PubMed:26968549, PubMed:28594398). Facilitates formation of an oligomeric mitochondrial iron transport complex required for iron acquisition during heme synthesis, although it does not function as a direct iron transporter (By similarity). Directly interacts with terminal heme synthesis enzymes PPOX and FECH to enhance ferrochelatase activity and couple iron import with heme synthesis (By similarity). Regulates mitochondrial energy metabolism through interaction with ATP synthase subunits (PubMed:36374104)

Isoforms & Proteins

1 transcript · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.

The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.

Counts are mutations and unique mutant peptides on each transcript.

TranscriptUniProtMutationsPeptides
ENST00000371384 Q96KR6 60 49

Gene Properties

Recurrent Mutations

All 49 amino-acid changes on canonical ENST00000371384 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).

X-axis = amino-acid position in the protein.

Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.

The most recurrent changes are labelled; hover any needle for the change, position and counts.

Mutation frequency across cancer types

% of samples with a missense/complex mutation in FAM210B · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FAM210B – counted as distinct samples (a sample counts once no matter how many mutations it has).

Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.

Cancer typeCell linesTissue samples
Hodgkins Lymphoma
2/16 12%
0/122 0%
Other Sarcomas
0/69 0%
3/699 0%
Colorectal Carcinoma
3/143 2%
10/3239 0%
Endometrial Carcinoma
1/42 2%
1/612 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Medulloblastoma
0/0 0%
1/450 0%
Biliary Tract Carcinoma
1/54 2%
1/950 0%
Bladder Carcinoma
2/58 3%
0/956 0%
Melanoma
0/210 0%
4/1899 0%
Glioma
0/52 0%
4/2127 0%
Non-Small Cell Lung Carcinoma
1/304 0%
2/1390 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Non-Cancerous
1/104 1%
0/830 0%
Hepatocellular Carcinoma
0/46 0%
2/2210 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Prostate Carcinoma
0/13 0%
2/2105 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
2/2550 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%
Breast Carcinoma
0/144 0%
2/3264 0%
Other Solid Cancers
0/94 0%
1/1515 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
Kidney Carcinoma
1/85 1%
0/1862 0%
Gastric Carcinoma
0/74 0%
1/1809 0%
Other Blood Cancers
0/61 0%
1/2725 0%

Mutation Distribution

Where FAM210B is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in FAM210B were found in each tissue, across the whole database.

Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.

This shows the cancer-context where this gene is recurrently altered.

GTEx Expression

Median TPM across 54 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.

Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.

Scroll or drag the mini-axis below the chart to browse all tissues.

Mutations

All 60 mutations in FAM210B

About the mutation list
Mutations

Every mutation record for this gene, across all samples and sources.

The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).

Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide