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Gene

ARFGEF3

ARFGEF family member 3

Summary

Cytogenetic location
6q23.3-q24.1
Coordinates
Chromosome 6: 138,161,939–138,344,663 (GRCh38)
Exons
34 exons across 182.7 kb
Protein
2,177 amino acids
Also known as
dJ171N11.1, BIG3, PPP1R33
Previous symbols
C6orf92, KIAA1244
MANE Select transcript
ENST00000251691.5NM_020340.5
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

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 1 GenCC submitter rates it definitive or strong

How ARFGEF3 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Stretches short reads find hard
Chromosome 6, with a bracket where ARFGEF3 sits. ARFGEF3 and 6 genes near it on chromosome 6, from 137,753,301 to 138,753,300.Chromosome 66q23.3-q24.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27137.8 Mb138 Mb138.2 Mb138.4 Mb138.6 MbTNFAIP3: 137,866,383–137,885,836, forward strandTNFAIP3PERP: 138,015,003–138,107,848, reverse strandPERPARFGEF3: 138,161,939–138,344,663, forward strandARFGEF3PBOV1: 138,215,986–138,218,491, reverse strandPBOV1SMIM28: 138,377,905–138,383,486, forward strandSMIM28HEBP2: 138,403,531–138,422,197, forward strandHEBP2NHSL1: 138,422,033–138,693,253, reverse strandNHSL1Diagram of ARFGEF3: 34 exons on the forward strand of chromosome 6Exon 1: 138,161,939–138,162,171, 233 basesExon 2: 138,170,662–138,170,713, 52 basesExon 3: 138,207,042–138,207,123, 82 basesExon 4: 138,209,910–138,210,041, 132 basesExon 5: 138,229,784–138,229,852, 69 basesExon 6: 138,238,509–138,238,631, 123 basesExon 7: 138,242,952–138,242,994, 43 basesExon 8: 138,245,513–138,245,591, 79 basesExon 9: 138,253,880–138,253,984, 105 basesExon 10: 138,255,436–138,255,769, 334 basesExon 11: 138,261,527–138,261,639, 113 basesExon 12: 138,262,701–138,263,611, 911 basesExon 13: 138,278,451–138,278,617, 167 basesExon 14: 138,279,999–138,280,164, 166 basesExon 15: 138,285,946–138,286,053, 108 basesExon 16: 138,286,701–138,286,916, 216 basesExon 17: 138,287,074–138,287,184, 111 basesExon 18: 138,289,818–138,289,968, 151 basesExon 19: 138,291,733–138,292,053, 321 basesExon 20: 138,293,993–138,294,126, 134 basesExon 21: 138,296,810–138,296,955, 146 basesExon 22: 138,298,606–138,298,785, 180 basesExon 23: 138,307,253–138,307,397, 145 basesExon 24: 138,308,739–138,308,861, 123 basesExon 25: 138,311,407–138,311,510, 104 basesExon 26: 138,313,795–138,313,939, 145 basesExon 27: 138,317,251–138,317,379, 129 basesExon 28: 138,319,703–138,319,879, 177 basesExon 29: 138,321,111–138,321,225, 115 basesExon 30: 138,323,671–138,323,773, 103 basesExon 31: 138,324,023–138,324,154, 132 basesExon 32: 138,328,021–138,328,142, 122 basesExon 33: 138,333,970–138,335,188, 1,219 basesExon 34: 138,336,295–138,344,663, 8,369 bases151015202530345′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 14.9 kb of the gene's 182.7 kb; 6,534 of those bases code for the protein.

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.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ARFGEF3 gene: ARFGEF family member 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/arfgef3

Vancouver

Dante Labs. ARFGEF3 gene: ARFGEF family member 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/arfgef3

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