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Gene

TUBB4B

tubulin beta 4B class IVb

Summary

Cytogenetic location
9q34.3
Coordinates
Chromosome 9: 137,241,287–137,243,707 (GRCh38)
Exons
4 exons across 2.4 kb
Protein
445 amino acids
Inheritance
Autosomal recessive
Also known as
Beta2
Previous symbols
TUBB2C
MANE Select transcript
ENST00000340384.5NM_006088.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Leber Congenital Amaurosis & RPE65-Related Retinopathy

    • Leber Congenital AmaurosisAutosomal recessive

      A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How TUBB4B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where TUBB4B sits. TUBB4B and 60 genes near it on chromosome 9, from 136,742,497 to 137,742,496.Chromosome 99q34.3p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3136.8 Mb137 Mb137.2 Mb137.4 Mb137.6 Mb: 136,738,167–136,748,453, reverse strandLCN10: 136,738,167–136,743,356, reverse strandLCN6: 136,744,017–136,748,531, reverse strandLCN6LCN8: 136,754,386–136,758,543, reverse strandLCN8LCN15: 136,759,634–136,766,255, reverse strandLCN15TMEM141: 136,791,303–136,793,317, forward strand: 136,791,379–136,800,595, forward strandCCDC183: 136,796,338–136,807,741, forward strandRABL6: 136,807,848–136,841,187, forward strandAJM1: 136,842,478–136,848,801, forward strandAJM1PHPT1: 136,847,994–136,851,043, forward strandPHPT1MAMDC4: 136,850,943–136,860,802, forward strandMAMDC4EDF1: 136,862,113–136,866,343, reverse strandEDF1TRAF2: 136,881,903–136,929,221, forward strandTRAF2FBXW5: 136,938,431–136,950,122, reverse strandC8G: 136,942,532–136,946,980, forward strandC8GLCN12: 136,949,391–136,956,535, forward strandPTGDS: 136,975,053–136,981,750, forward strand: 136,977,518–136,985,435, forward strandLCNL1: 136,981,904–136,986,410, forward strandLCNL1PAXX: 136,992,400–136,994,074, forward strandPAXXCLIC3: 136,994,608–136,996,729, reverse strandCLIC3ABCA2: 137,007,226–137,028,915, reverse strandFUT7: 137,030,174–137,032,825, reverse strand: 137,031,241–137,040,436, reverse strandNPDC1: 137,037,577–137,046,700, reverse strandENTPD2: 137,048,107–137,054,069, reverse strandENTPD2SAPCD2: 137,062,127–137,070,593, reverse strandSAPCD2UAP1L1: 137,077,470–137,084,544, forward strandUAP1L1MAN1B1: 137,085,917–137,109,189, forward strandMAN1B1DPP7: 137,110,540–137,118,309, reverse strandDPP7GRIN1: 137,138,346–137,168,765, forward strandGRIN1LRRC26: 137,168,758–137,170,058, reverse strand: 137,168,854–137,171,984, reverse strandTMEM210: 137,170,858–137,172,056, reverse strandTMEM210ANAPC2: 137,174,784–137,189,028, reverse strandSSNA1: 137,188,640–137,190,371, forward strandTPRN: 137,191,617–137,204,193, reverse strandTMEM203: 137,204,082–137,205,648, reverse strandNDOR1: 137,205,662–137,219,371, forward strandRNF229: 137,217,494–137,219,361, forward strandRNF208: 137,219,577–137,222,312, reverse strandCYSRT1: 137,225,174–137,226,315, forward strandRNF224: 137,226,908–137,229,640, forward strandSLC34A3: 137,230,757–137,236,555, forward strandSLC34A3TUBB4B: 137,241,287–137,243,707, forward strandTUBB4BCIMIP2A: 137,243,584–137,247,770, reverse strandCIMIP2ASTPG3: 137,250,608–137,253,483, forward strandSTPG3NELFB: 137,255,210–137,273,542, forward strandTOR4A: 137,274,854–137,282,641, forward strandNRARP: 137,299,631–137,302,271, reverse strandEXD3: 137,306,894–137,423,911, reverse strandEXD3NOXA1: 137,422,752–137,434,451, forward strandNOXA1ENTPD8: 137,434,362–137,441,881, reverse strandENTPD8NSMF: 137,447,570–137,459,576, reverse strandNSMFPNPLA7: 137,459,952–137,550,560, reverse strandPNPLA7MRPL41: 137,550,424–137,552,555, forward strandMRPL41DPH7: 137,554,436–137,578,936, reverse strandDPH7ZMYND19: 137,582,066–137,590,520, reverse strandZMYND19ARRDC1: 137,605,619–137,617,859, forward strandARRDC1EHMT1: 137,618,901–137,870,016, forward strandEHMT1Diagram of TUBB4B: 4 exons on the forward strand of chromosome 9Exon 4: 4 known disease-causing sitesExon 1: 137,241,287–137,241,417, 131 basesExon 2: 137,241,721–137,241,829, 109 basesExon 3: 137,241,911–137,242,021, 111 basesExon 4: 137,242,496–137,243,707, 1,212 bases12345′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.6 kb of the gene's 2.4 kb; 1,338 of those bases code for the protein.

How a genome test reads TUBB4B

4

positions in TUBB4B where ClinVar classes a change as pathogenic or likely pathogenic

3 of them (75%) fall in regions short reads find hard.

  • Low mappability (3 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 2.4 kb of TUBB4B, introns included, not only the 1.6 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TUBB4B gene: tubulin beta 4B class IVb. Retrieved 16 October 2026, from https://dantelabs.com/genes/tubb4b

Vancouver

Dante Labs. TUBB4B gene: tubulin beta 4B class IVb [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tubb4b

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