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Gene

SHANK2

SH3 and multiple ankyrin repeat domains 2

Summary

Cytogenetic location
11q13.3-q13.4
Coordinates
Chromosome 11: 70,467,854–71,252,577 (GRCh38)
Exons
26 exons across 784.7 kb
Protein
1,849 amino acids
Also known as
CTTNBP1, ProSAP1, SHANK, SPANK-3
Previous symbols
CORTBP1
MANE Select transcript
ENST00000601538.6NM_012309.5
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

  • Autism Spectrum Disorder

    • Autism, susceptibility to (single-gene forms)

      Single-gene contributions to autism, including variants in NLGN3, NLGN4X, PTCHD1, SHANK2, TBR1 and CHD8.

      • 3 GenCC submitters rate it definitive or strong

How SHANK2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where SHANK2 sits. SHANK2 and 21 genes near it on chromosome 11, from 69,683,130 to 72,037,301.Chromosome 1111q13.3-q13.4p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2570 Mb70.5 Mb71 Mb71.5 Mb72 MbFGF19: 69,698,232–69,704,660, reverse strandFGF19FGF4: 69,771,022–69,775,344, reverse strandFGF4FGF3: 69,809,968–69,819,416, reverse strandFGF3ANO1: 69,985,907–70,189,543, forward strandANO1FADD: 70,203,262–70,220,615, forward strandFADDPPFIA1: 70,270,655–70,385,312, forward strandPPFIA1CTTN: 70,397,704–70,436,584, forward strandCTTNSHANK2: 70,467,854–71,252,577, reverse strandSHANK2DHCR7: 71,428,193–71,452,868, reverse strandDHCR7NADSYN1: 71,453,109–71,524,107, forward strandNADSYN1KRTAP5-7: 71,527,267–71,528,669, forward strandKRTAP5-7KRTAP5-8: 71,538,025–71,539,209, forward strandKRTAP5-8KRTAP5-9: 71,548,420–71,549,608, forward strandKRTAP5-10: 71,565,563–71,566,735, forward strandKRTAP5-11: 71,581,855–71,603,353, reverse strandXNDC1N-ZNF705EP-ALG1L9P: 71,804,997–71,928,656, reverse strandXNDC1N-ZNF705EP-ALG1L9PDEFB108B: 71,833,200–71,837,710, forward strandDEFB108BXNDC1N: 71,865,504–71,928,917, reverse strandXNDC1NDEFB131B: 71,878,453–71,884,561, forward strandDEFB131BRNF121: 71,929,005–71,997,597, forward strandIL18BP: 71,998,613–72,007,315, forward strandNUMA1: 72,002,860–72,080,693, reverse strandDiagram of SHANK2: 26 exons on the reverse strand of chromosome 11Exon 26: 2 known disease-causing sitesExon 25: 6 known disease-causing sitesExon 23: 2 known disease-causing sitesExon 22: 2 known disease-causing sitesExon 19: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 14: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 6: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 26: 70,467,854–70,473,439, 5,586 basesExon 25: 70,485,314–70,487,720, 2,407 basesExon 24: 70,489,328–70,489,348, 21 basesExon 23: 70,490,276–70,490,387, 112 basesExon 22: 70,492,335–70,492,465, 131 basesExon 21: 70,500,570–70,500,590, 21 basesExon 20: 70,501,923–70,501,931, 9 basesExon 19: 70,502,206–70,502,286, 81 basesExon 18: 70,502,796–70,502,931, 136 basesExon 17: 70,659,828–70,659,952, 125 basesExon 16: 70,661,596–70,661,678, 83 basesExon 15: 70,698,688–70,698,763, 76 basesExon 14: 70,798,443–70,798,556, 114 basesExon 13: 70,807,002–70,807,171, 170 basesExon 12: 70,820,364–70,820,682, 319 basesExon 11: 70,896,501–70,896,567, 67 basesExon 10: 71,056,481–71,056,558, 78 basesExon 9: 71,075,159–71,075,275, 117 basesExon 8: 71,092,422–71,092,589, 168 basesExon 7: 71,094,537–71,094,688, 152 basesExon 6: 71,109,941–71,110,049, 109 basesExon 5: 71,113,293–71,113,364, 72 basesExon 4: 71,118,829–71,119,032, 204 basesExon 3: 71,147,120–71,147,338, 219 basesExon 2: 71,224,697–71,224,796, 100 basesExon 1: 71,252,425–71,252,577, 153 bases26201015′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 10.8 kb of the gene's 784.7 kb; 5,550 of those bases code for the protein.

How a genome test reads SHANK2

24

positions in SHANK2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 784.7 kb of SHANK2, introns included, not only the 10.8 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.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SHANK2 gene: SH3 and multiple ankyrin repeat domains 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/shank2

Vancouver

Dante Labs. SHANK2 gene: SH3 and multiple ankyrin repeat domains 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/shank2

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